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
ITPK1_chr14_92931914_93120925	93058800	C C	CGGGGGCG others(217): Show CGGGGGCGGGTGCTGGTCACAAGGTGGGGTGGAGGGGGTACGGGTCACAA GGCGGGGTGGAGGGGGTGCAGGTCGTGAGGCAGGGGTGGAGGGGGTGCAG GTCACGAGGCGGGGTGGAGGGGGTGCGGGTCACGAGGCAGGGGTGGAGGG GGTGCGGATCATGAGGCAAGGGTGAACGGGGTGCGGGTTACGAGGGAGGG TGGAGGGGGTGCGGGTCTTGAGGCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0084 a0001c0001t0030g0084	1	243	0.0041	224	c.120 others(243): Show c.120+17794_120+17795insCGCCTCAAGACCCGCACCCCCTCCAC CCTCCCTCGTAACCCGCACCCCGTTCACCCTTGCCTCATGATCCGCACCC CCTCCACCCCTGCCTCGTGACCCGCACCCCCTCCACCCCGCCTCGTGACC TGCACCCCCTCCACCCCTGCCTCACGACCTGCACCCCCTCCACCCCGCCT TGTGACCCGTACCCCCTCCACCCCACCTTGTGACCAGCACCCGCCCCC	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	3/10			chr14	TogoVar
JAZF1_chr7_27825577_28185795	28110448	A A	AAAAGGAA others(217): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	206	0.0049	224	c.115 others(243): Show c.115+70014_115+70015insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(217): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATATAT ATATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	152	0.0066	224	c.160 others(243): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(217): Show GGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGCAGGTGGG GCACAGGGGAGCTGGTGGTGGGGGAGGGGGCAGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGTGGGGGAGGGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0010 a0001c0001t0017g0010	1	270	0.0037	224	c.178 others(239): Show c.1785+47_1785+48insAGCGGGGGAGGCAGGGAGGAGGGGCAGGTG GGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGCAGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTG GTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KNDC1_chr10_133155219_133231412	133227483	G G	GCGCCATC others(217): Show GCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGG CTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGC CATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTCT GTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATC CACTCCCCGGCTCTGTCCCCCACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	332	0.0030	224	c.25 others(235): Show c.2593_*2594insCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCG CCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTC TGTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCAT CCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTC CCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		1072		chr10	TogoVar
LHFPL3_chr7_104323603_104913561	104824294	T T	TAATATAT others(217): Show TAATATATAATATATAATATATAATATATATAATATATTATATATAATAT ATAATATATAATATATTATATATAATATATAATATATAATATATATTATA TATATAATATATTATATAATATATAATATATATTATATATATAATATATT ATATAATATATTATATATATAATATATATTATATATTATATACAATATAT TATATATTATATACATTATATATTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	86	0.0116	224	c.683 others(243): Show c.683-81893_683-81892insAATATATAATATATAATATATAATAT ATATAATATATTATATATAATATATAATATATAATATATTATATATAATA TATAATATATAATATATATTATATATATAATATATTATATAATATATAAT ATATATTATATATATAATATATTATATAATATATTATATATATAATATAT ATTATATATTATATACAATATATTATATATTATATACATTATATATTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(217): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0013 a0001c0001t0026g0013	1	62	0.0161	224	c.-36 others(245): Show c.-36+105674_-36+105675insTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCTCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(217): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGG AAGAGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAA GGAAGGGAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	62	0.0161	224	c.-36 others(245): Show c.-36+105674_-36+105675insTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCTCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	953033	A A	ACACCCAC others(217): Show ACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACC AGCCTCCTACATATCCACACAGACACCCACCCCAAACCAGCCTCCTGCAC GTCCACACAGACACCCCAAACCAGCCTCCTACACATCCACACAGACACCC ACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	294	0.0034	224	c.503 others(241): Show c.503+1323_503+1324insGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGATGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTG CAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGATATGTAGGAGGCTGGT TTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953105	A A	ACACGGAC others(217): Show ACACGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGGACCCCA AACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCT GCACGTCCACACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTGCACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG04204.hp1 HG01071.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0035 a0001c0010 a0002c0035	a0001c0010t0001 a0002c0035t0001 a0001c0010t0001 a0002c0035t0001	a0001c0010t0001g0271 a0002c0035t0001g0280 a0001c0010t0001g0271 a0002c0035t0001g0280	2	294	0.0068	224	c.503 others(241): Show c.503+1251_503+1252insGGTGTCTGTGTGGACGTGCAGGAGGCTG GTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTC TGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTGTGGACGTGCAGG AGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGG GGTCCGTGTCTCTGTGGACTTGTAGGAGGCTGGTTTGGGGTCCGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953177	A A	ACACCCAC others(217): Show ACACCCACTCCAAACCAGCCTCTTACACGTCCACACAGACACGGACCCCA AACCAGCCTCCTACAAGTCCACAGAGACACGGACCCCAAACCAGCCTCCT ACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACAC ACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAG CCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	294	0.0034	224	c.503 others(241): Show c.503+1179_503+1180insGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTG TGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGG AGGCTGGTTTGGGGTCCGTGTCTCTGTGGACTTGTAGGAGGCTGGTTTGG GGTCCGTGTCTGTGTGGACGTGTAAGAGGCTGGTTTGGAGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954038	C C	CTCCTACA others(217): Show CTCCTACATGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTC CACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACC CACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCT CCTGCACATCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCA CACAGACACCCACCCCACACCAGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0050 a0001c0002t0006g0050	1	294	0.0034	224	c.503 others(239): Show c.503+318_503+319insAGCTGGTGTGGGGTGGGTGTCTGTGTGGAC ATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGATGTGCAGGAGGCT GGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGT CTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACAT GTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MAML3_chr4_139711753_140159184	140019098	T T	TTTTTTTT others(217): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02809.hp2 others(2): Show HG01069.hp1 HG01243.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0011 a0002c0003 a0006c0007 others(1): Show a0001c0011 a0002c0003 a0006c0007 a0006c0014	a0001c0011t0001 a0002c0003t0002 a0006c0007t0014 others(2): Show a0001c0011t0001 a0002c0003t0002 a0006c0007t0014 a0006c0007t0017 a0006c0014t0001	a0001c0011t0001g0103 a0002c0003t0002g0079 a0006c0007t0014g0139 others(2): Show a0001c0011t0001g0103 a0002c0003t0002g0079 a0006c0007t0014g0139 a0006c0007t0017g0011 a0006c0014t0001g0031	5	152	0.0329	224	c.469 others(245): Show c.469-128132_469-128131insGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(217): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGGGG GGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	163	0.0061	224	c.525 others(241): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(217): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01261.hp2 HG01884.hp2 others(20): Show HG00438.hp1 HG01261.hp2 HG01884.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18969.hp2 NA18984.hp2 NA19058.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0003 a0001c0002t0027 a0001c0002t0028 a0001c0005t0011 a0001c0005t0016 a0001c0006t0001 a0001c0006t0014 a0002c0003t0001 a0002c0003t0008 a0002c0004t0002 a0002c0004t0029	a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0038 others(20): Show a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0006g0008 a0001c0001t0007g0043 a0001c0001t0007g0049 a0001c0001t0009g0034 a0001c0002t0003g0016 a0001c0002t0027g0046 a0001c0002t0028g0099 a0001c0005t0011g0069 a0001c0005t0016g0048 a0001c0006t0001g0041 a0001c0006t0014g0010 a0002c0003t0001g0027 a0002c0003t0001g0055 a0002c0003t0008g0075 a0002c0004t0002g0065 a0002c0004t0029g0047	23	102	0.2255	224	c.111 others(243): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATCTCC GCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MCTP2_chr15_94226561_94488952	94243452	T T	TATATGCG others(217): Show TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TACATGCGTATGCGTATATGCGTATGTACACACATACGTATGCGTACATA CGTATGCGTATATGCGTATGTACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01255.hp2 HG00741.hp2 HG01099.hp2 HG01255.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0002c0003t0025 a0001c0001t0002 a0001c0002t0001 a0002c0003t0025	a0001c0001t0002g0072 a0001c0002t0001g0068 a0002c0003t0025g0078 a0001c0001t0002g0072 a0001c0002t0001g0068 a0002c0003t0025g0078	3	276	0.0109	224	c.-66 others(243): Show c.-66+11789_-66+11790insTATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTACATGCGTATGCGTATATGCGTATGTA CACACATACGTATGCGTACATACGTATGCGTATATGCGTATGTACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(217): Show TTTTCCTTTCCTTTCCTTTCCTTTTCCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTCTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0164 a0002c0003t0002g0164	1	181	0.0055	224	c.107 others(243): Show c.1073+5165_1073+5166insTCCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTCTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIER2_chr19_300573_349796	310547	G G	GCAGAAAC others(217): Show GCAGAAACACAGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAAC AGGCCGGGAGCTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAG TCCAGAAACACAGCCCGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAA CACAGCCGGGAGCTATAGAAACACAGCCCGGAGCTGTAGAAACACGGCCC GGAGCTATAGAAACGGCCCAGAGTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	384	0.0026	224	c.984 others(241): Show c.984+1297_984+1298insGACTCTGGGCCGTTTCTATAGCTCCGGG CCGTGTTTCTACAGCTCCGGGCTGTGTTTCTATAGCTCCCGGCTGTGTTT CTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTC TGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTT TCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGCTGTGTTTCTG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(217): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAACACAGCCGGG AGCTATAGAAACACAGCCCGGAGCTGTAGAAACACGGCCCGGAGCTATAG AAACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01123.hp1 others(13): Show HG00099.hp1 HG00639.hp2 HG01123.hp1 HG01516.hp1 HG02145.hp2 HG02559.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0007 a0001c0001t0001g0218 a0001c0001t0001g0238 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0017t0001g0325	16	384	0.0417	224	c.984 others(241): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCTGTGTTTCTATAGCTCCC GGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCTC CCGGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(217): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAACACAGCCGGG AGCTATAGAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGAGCTACAG AAACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	384	0.0026	224	c.984 others(241): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTG TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCTC CCGGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(217): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAACACAGCCGGG AGCTATAGAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGAGCTATAG AAACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(167): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0006 a0001c0007 others(11): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0023 a0001c0024 a0001c0027 a0002c0004 a0002c0015 a0004c0019 a0005c0025 a0006c0018 a0008c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0006t0003 a0001c0007t0001 a0001c0007t0006 a0001c0007t0009 a0001c0008t0001 a0001c0013t0001 a0001c0023t0001 a0001c0024t0001 a0001c0027t0001 a0002c0004t0003 a0002c0015t0003 a0004c0019t0001 a0005c0025t0001 a0006c0018t0001 a0008c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(145): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0005g0030 a0001c0001t0005g0288 a0001c0001t0005g0311 a0001c0001t0007g0320 a0001c0001t0008g0173 a0001c0001t0013g0296 a0001c0006t0003g0121 a0001c0007t0001g0155 a0001c0007t0001g0156 a0001c0007t0006g0152 a0001c0007t0009g0151 a0001c0008t0001g0182 a0001c0013t0001g0239 a0001c0013t0001g0240 a0001c0023t0001g0201 a0001c0024t0001g0175 a0001c0027t0001g0140 a0002c0004t0003g0086 a0002c0004t0003g0114 a0002c0004t0003g0115 a0002c0004t0003g0116 a0002c0004t0003g0118 a0002c0004t0003g0119 a0002c0004t0003g0120 a0002c0015t0003g0224 a0002c0015t0003g0229 a0004c0019t0001g0184 a0005c0025t0001g0165 a0006c0018t0001g0179 a0008c0016t0001g0176	170	384	0.4427	224	c.984 others(241): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCTC CCGGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(217): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCGGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAACACAGCCGGG AGCTATAGAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGAGCTATAG AAACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	384	0.0026	224	c.984 others(241): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCCGGCTGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCTC CCGGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543219	G G	GACAGTAG others(217): Show GACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGG GGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTGGTGAAT GGGGGACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTGAG TGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0272 a0001c0022t0001g0272	1	286	0.0035	224	c.153 others(241): Show c.1539+565_1539+566insAGTGAGTGGGGGGACAGTGGTGAGTGGG CACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTG GGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGAGACAGTGGTGAGTT GGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TGGGGAGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGTACAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543492	G G	GAGGGGAC others(217): Show GAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGAGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	286	0.0035	224	c.153 others(241): Show c.1539+833_1539+834insAGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543768	G G	GAGGGGAC others(217): Show GAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAA GTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	286	0.0035	224	c.153 others(243): Show c.1539+1109_1539+1110insAGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGCAAGTGGGCA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(217): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00597.hp1 others(134): Show HG00280.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(23): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0022 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0041 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0058 a0001c0002t0059 a0001c0002t0061 a0001c0002t0062 a0001c0002t0065 a0001c0002t0067 a0001c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 others(58): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0092 a0001c0002t0005g0001 a0001c0002t0005g0026 a0001c0002t0005g0053 a0001c0002t0007g0001 a0001c0002t0007g0027 a0001c0002t0010g0001 a0001c0002t0010g0006 a0001c0002t0010g0013 a0001c0002t0010g0026 a0001c0002t0010g0036 a0001c0002t0011g0001 a0001c0002t0011g0030 a0001c0002t0011g0032 a0001c0002t0013g0001 a0001c0002t0022g0001 a0001c0002t0022g0030 a0001c0002t0026g0001 a0001c0002t0026g0061 a0001c0002t0027g0023 a0001c0002t0027g0068 a0001c0002t0033g0001 a0001c0002t0033g0051 a0001c0002t0036g0080 a0001c0002t0037g0001 a0001c0002t0038g0013 a0001c0002t0041g0001 a0001c0002t0052g0067 a0001c0002t0053g0001 a0001c0002t0054g0001 a0001c0002t0055g0055 a0001c0002t0056g0001 a0001c0002t0058g0069 a0001c0002t0059g0001 a0001c0002t0061g0001 a0001c0002t0062g0063 a0001c0002t0065g0001 a0001c0002t0067g0001 a0001c0008t0001g0036	137	386	0.3549	224	c.-25 others(235): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCC CCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(217): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCC GCCCTGTCTGGGAGGGAGGTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA19012.hp2 NA19081.hp1 NA18994.hp2 NA19012.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0065 a0001c0002t0011g0017 a0001c0002t0001g0065 a0001c0002t0011g0017	3	386	0.0078	224	c.-25 others(235): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCC CCCGCCAGGCCAGCCGCCCTGTCTGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(217): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG02055.hp1 others(13): Show HG01167.hp2 HG01884.hp1 HG02055.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0021 a0002c0003t0070 others(1): Show a0002c0003t0009 a0002c0003t0021 a0002c0003t0070 a0002c0003t0071	a0002c0003t0009g0008 a0002c0003t0009g0010 a0002c0003t0009g0072 others(6): Show a0002c0003t0009g0008 a0002c0003t0009g0010 a0002c0003t0009g0072 a0002c0003t0009g0082 a0002c0003t0009g0084 a0002c0003t0021g0008 a0002c0003t0021g0010 a0002c0003t0070g0008 a0002c0003t0071g0008	16	386	0.0415	224	c.-25 others(235): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCC CCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(217): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG00741.hp1 others(39): Show HG00099.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01981.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG03491.hp1 HG04204.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18981.hp1 NA18984.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0002t0001 a0001c0004t0002 a0001c0005t0003 a0002c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0002g0024 a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0148 a0001c0001t0002g0219 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0023 a0001c0001t0003g0108 a0001c0001t0003g0121 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0004g0106 a0001c0001t0004g0147 a0001c0001t0007g0050 a0001c0001t0007g0124 a0001c0001t0009g0161 a0001c0001t0016g0136 a0001c0002t0001g0155 a0001c0002t0001g0164 a0001c0004t0002g0132 a0001c0005t0003g0220 a0002c0011t0001g0158	42	250	0.1680	224	c.225 others(241): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432761	A A	AAGAGAAA others(217): Show AAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGGGAAAGAGAAAGGGAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp1 HG01243.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0242 a0001c0001t0004g0243 a0001c0001t0002g0242 a0001c0001t0004g0243	2	250	0.0080	224	c.225 others(241): Show c.225-2232_225-2231insAAGGGAGGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AAAGGGAG others(217): Show AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAG AGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0206 a0001c0007t0002g0206	1	250	0.0040	224	c.225 others(241): Show c.225-2158_225-2157insAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG GGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTGTATA others(217): Show TGTGTATATATATATGTATATATATATGTATATATATATATGTATATATA TATGTATATATATGTGTATATATATATGTATATATATATGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATGTGTATATATATGTATATATATATATGTATATATATGTATA TATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	410	0.0024	224	c.484 others(239): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACACATATATATACATATATAT ATACATATATATATATACATATATATATACATATATATATACAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSI2_chr17_57251523_57689689	57649173	T T	TACCCAAC others(217): Show TACCCAACACATGTACACAATACGTACACTCAATATACAACACACACACC CAATACATACATACACTCAACACACACATCCACATACACCCAACACAGGT ACACAATACGTACACTCAACAAACACAACACACACAACACATACATACAC TCAACACACATCCACATACGCCCAACACATATACACAACACATAACACAC ATGTACTCAACACACACATCCATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0108 a0001c0001t0068g0108	1	168	0.0060	224	c.728 others(241): Show c.728-2906_728-2683dupTACGTACACTCAATATACAACACACACA CCCAATACATACATACACTCAACACACACATCCACATACACCCAACACAG GTACACAATACGTACACTCAACAAACACAACACACACAACACATACATAC ACTCAACACACATCCACATACGCCCAACACATATACACAACACATAACAC ACATGTACTCAACACACACATCCATACACCCAACACATGTACACAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(217): Show GGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGG AGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCG CGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCA CGTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18943.hp2 HG02129.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0001 a0001c0038t0001 a0001c0001t0001 a0001c0038t0001	a0001c0001t0001g0104 a0001c0038t0001g0083 a0001c0001t0001g0104 a0001c0038t0001g0083	2	388	0.0052	224	c.159 others(241): Show c.1596+176_1596+177insAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGT GGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGA GGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767718	A A	AGGGGGGC others(217): Show AGGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGGGGGCGTGT GGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGAGGGGCCCGTGGAGGAGGG GCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGCGAGTGGAGGAGCCCCGG TGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGA GGGGCACGTGGAGGAGGGGCGAGCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0346 a0004c0006t0001g0346	1	388	0.0026	224	c.159 others(241): Show c.1596+250_1596+251insGGGGCGCGTGGGGGTGCGTGGGGGGGCA CGTGGAGGGGGGGGCGTGTGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGG AGGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGG GCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGCGTGGA GGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189538	A A	ATTATATA others(217): Show ATTATATATATATAAAATCTTATTTTATATATTATATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATT TTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATA TATTTTATATATATAAAATCTTATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0053 a0001c0001t0042g0053	1	330	0.0030	224	c.-5+ others(239): Show c.-5+3059_-5+3060insAATAAGATTTTATATATATAAAATATATAT AAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAA GATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATATAATATATAAAATAAGATTTTATATATATATAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTNR1A_chr4_186528655_186560567	186546886	G G	GTGGGACA others(217): Show GTGGGACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCAC ACCACACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGG GACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACACCA CACCCTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCCTGGGACA CACCGTCCACACCACACCCTGTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19009.hp1 NA19009.hp2 HG03209.hp1 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0116 a0001c0001t0001g0229 a0001c0001t0001g0240	3	396	0.0076	224	c.184 others(241): Show c.184+8295_184+8296insGGAACAGGGTGTGGTGTGGACGGTGTGT CCCAGGAACAGGGTGTGGTGTGGACGGTGTGTCCCAGGAACAGGGTGTGG TGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCA CGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTG GACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCA	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MUC4_chr3_195741771_195816929	195771078	T T	TGGTTGGG others(217): Show TGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATT CCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGC CGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0060 a0060	a0060c0041 a0060c0041	a0060c0041t0001 a0060c0041t0001	a0060c0041t0001g0179 a0060c0041t0001g0179	1	249	0.0040	224	c.132 others(243): Show c.13242+573_13242+574insGCGAGACTGACCAGGAATACCCCAAC CCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCAACC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MYL5_chr4_669542_687028	679234	C C	CAGGGCGG others(217): Show CAGGGCGGGTGGGACAGCCCAAGCCTGGAAACTCAGAGCCCTGAAGCTGC GAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAGAGCTGGCAGAGAGCA TCCCAGGGTGAGACAGGGCGGGTGGGACAGCCCAAGCCTGGAAACTCAGA GCCCTGAAGCTGCGAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAGAG CTGGCAGAGAGCATCCCAGGGTGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0070 a0004c0006t0001g0071 a0004c0006t0001g0070 a0004c0006t0001g0071	2	412	0.0049	224	c.187 others(239): Show c.187+205_187+206insCGGGTGGGACAGCCCAAGCCTGGAAACTCA GAGCCCTGAAGCTGCGAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAG AGCTGGCAGAGAGCATCCCAGGGTGAGACAGGGCGGGTGGGACAGCCCAA GCCTGGAAACTCAGAGCCCTGAAGCTGCGAGGTGATGGCCCTGGCCGCCC TTGGTTCCATCAGAGCTGGCAGAGAGCATCCCAGGGTGAGAGGG	MYL5	ENSG00000215375.7	transcript	ENST00000400159.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(217): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGT GGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAG TGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACC ATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0176 a0001c0001t0057g0176	1	384	0.0026	224	c.160 others(241): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACTA CTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACC ACCACCACCATCACCATCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(217): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04115.hp2 HG01192.hp1 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0134 a0003c0007t0001g0073 a0001c0001t0001g0134 a0003c0007t0001g0073	2	170	0.0118	224	c.332 others(243): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(217): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTGTGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18990.hp2 NA18970.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0002t0002g0075 a0001c0001t0001g0074 a0001c0002t0002g0075	2	170	0.0118	224	c.332 others(243): Show c.332+40056_332+40057insTATAATACACATCTGTGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084681	T T	TACACATC others(217): Show TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTAT CGATATATAATACACATCTATGTATTATATATCGATAGATAATACACATC TATGTATTATATATCGATAATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp1 HG02451.hp1 HG03486.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0159 a0002c0011t0001g0160 a0002c0011t0001g0159 a0002c0011t0001g0160	2	170	0.0118	224	c.332 others(243): Show c.332+40411_332+40412insCACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATATATAATACACATCTATGTATTAT ATATCGATAGATAATACACATCTATGTATTATATATCGATAATACACA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	2295539	G G	GAGAGAGA others(217): Show GAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGACAGACAGACA GAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACAGA CAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGA GAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGAGA GAGAGAGATAGAGAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0103 a0001c0005t0026g0103	1	104	0.0096	224	c.-52 others(245): Show c.-520-11037_-520-11036insGTCTGTCTGTCTCTCTATCTCTCT CTCTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTCT CTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCT GTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCT CTGTCTGTCTGTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NAALADL2_chr3_174854334_175815548	175132476	C C	CGGGGGGC others(217): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCGGGA GAGGGGCACCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACAGGAAGAATGGCCGGGCGGGGGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCCGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0032 a0003c0005t0032	a0003c0005t0032g0050 a0003c0005t0032g0050	1	64	0.0156	224	c.545 others(243): Show c.545+35185_545+35186insGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGTCTGGCCGGGAGAGGGGCACCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGAAGAATGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCCGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175132476	C C	CGGGGGGC others(217): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCGGGA GAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGAAGAATGGCCGGGCGGGGGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCCGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0037 a0013c0023t0001g0037	1	64	0.0156	224	c.545 others(243): Show c.545+35185_545+35186insGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGTCTGGCCGGGAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGAAGAATGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCCGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175132476	C C	CGGGGGGC others(217): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCGGGA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGAAGAATGGCCGGGCGGGGGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCCGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG03579.hp1 HG02895.hp2 HG03486.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0031 a0002c0003t0004 a0002c0003t0005 a0001c0001t0031 a0002c0003t0004 a0002c0003t0005	a0001c0001t0031g0026 a0002c0003t0004g0046 a0002c0003t0005g0014 a0001c0001t0031g0026 a0002c0003t0004g0046 a0002c0003t0005g0014	3	64	0.0469	224	c.545 others(243): Show c.545+35185_545+35186insGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGTCTGGCCGGGAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGAAGAATGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCCGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175132476	C C	CGGGGGGC others(217): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCGGGA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGAAGAATGGCCTGGCGGGGGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCCGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0018 a0001c0001 a0008c0018	a0001c0001t0003 a0008c0018t0001 a0001c0001t0003 a0008c0018t0001	a0001c0001t0003g0015 a0008c0018t0001g0043 a0001c0001t0003g0015 a0008c0018t0001g0043	2	64	0.0313	224	c.545 others(243): Show c.545+35185_545+35186insGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGTCTGGCCGGGAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGAAGAATGGCCTGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCCGGC AGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698227	A A	ATGTATGT others(217): Show ATGTATGTATACATATATATGTGTATGTATACATATATATGTGTATGTAT ACATATATATGTGTATGTATACATATATATGTGTATGTATACATATATAT GTGTATGTATACATATATATGTGTATGTATACATATATATGTGTATATGT GTATGTATACATATATATGTGTATATGTGTATGTATACATATATATGTGT ATGTATACATATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0062 a0004c0008t0002g0062	1	64	0.0156	224	c.189 others(245): Show c.1897-39054_1897-39053insGTATACATATATATGTGTATGTAT ACATATATATGTGTATGTATACATATATATGTGTATGTATACATATATAT GTGTATGTATACATATATATGTGTATGTATACATATATATGTGTATATGT GTATGTATACATATATATGTGTATATGTGTATGTATACATATATATGTGT ATGTATACATATATATGTGTATATGTGTATGTATACATATATATGTGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(217): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02965.hp1 HG01952.hp1 HG02965.hp1	a0004 a0009 a0004 a0009	a0004c0042 a0009c0113 a0004c0042 a0009c0113	a0004c0042t0001 a0009c0113t0001 a0004c0042t0001 a0009c0113t0001	a0004c0042t0001g0161 a0009c0113t0001g0061 a0004c0042t0001g0161 a0009c0113t0001g0061	2	166	0.0121	224	c.439 others(241): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar

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