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
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGGT others(189): Show GGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTCGGGGGGGGTAGGGAGGATTTCAGGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	198	0.0051	196	c.624 others(213): Show c.624+9137_624+9138insGGAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGGTAGGGAGGAT TTCAGGTGAGGGGGGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507319	G G	GATTTCAG others(189): Show GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGA TTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	244	0.0041	196	c.624 others(213): Show c.624+9255_624+9256insGTAGGGAGGATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507463	G G	GAGGATTT others(189): Show GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGTAGGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	247	0.0040	196	c.624 others(213): Show c.624+9378_624+9379insGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAG GGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504074	A A	ACCCCTGC others(189): Show ACCCCTGCACCCCGGGCTCCACACCCCCCCACCCGTGCCCGGCCTTACCC CTGCAACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCC TGCACCCCGGGGCTCCACACCCCCCCCCGCCGGTGCCCGGCCTTACCCCT GCACCCCGGGCTCCACACACCCCCCCCCCCCCGGTGCCCGGCCTTAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0076 a0001c0009t0006g0076	1	412	0.0024	196	c.171 others(213): Show c.1719-171_1719-170insGTAAGGCCGGGCACCGGGGGGGGGGGGG TGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGCGGGGGGGGG TGTGGAGCCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGGGGGGGT GTGGAGCCCGGGGTTGCAGGGGTAAGGCCGGGCACGGGTGGGGGGGTGTG GAGCCCGGGGTGCAGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRP8_chr1_53237364_53333070	53283681	T T	TTACCTAC others(189): Show TTACCTACTACATACCCGGGCCACTTACCTACTACACACCCGGGCCGCTT ACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	274	0.0036	196	c.368 others(213): Show c.368-2967_368-2966insGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTGGC CCGGGTATGTAGTAGGTA	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283984	A A	ACATACCC others(189): Show ACATACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTA CCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCT TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0272 a0001c0001t0011g0272	1	294	0.0034	196	c.368 others(213): Show c.368-3270_368-3269insCAGTAGGTAAGTAAGCGGCCCGGGTATG CAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCG GGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGC GGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAA GTAAGCGGCCCGGGTATG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACCCTT others(189): Show CCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACGCCCACACTTACACCCACGCTTACAT CTACCTCCACGCCCACACTTACACCCACGCTTACATCTACCTCCACGCCC ACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0015 a0004c0015t0015	a0004c0015t0015g0063 a0004c0015t0015g0063	1	242	0.0041	196	c.129 others(215): Show c.1290-1046_1290-1045insTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACAC TTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCACGCTT ACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(189): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0333 a0001c0008t0007g0333	1	364	0.0027	196	c.839 others(213): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(189): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0055 a0004c0055	a0004c0055t0001 a0004c0055t0001	a0004c0055t0001g0353 a0004c0055t0001g0353	1	308	0.0032	196	c.839 others(213): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LYPD8_chr1_248734415_248760759	248744491	A A	ATCAAATG others(189): Show ATCAAATGTGGATCTCACAATGGGTAGCGTCAAATGTGGATCTCACAATG GGTAGCATCAAATGTGGATCTCACAATGGGTAGCGTCAAATGTGGATCTC ACAATGGGTAGCGTCAAATGTGGATCTCACAATGGGTAGCGTCAAATGTG GATCTCACAATGGGTAGCGTCAAATGTGGATCTCACAATGGGTAGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0112 a0002c0002t0003g0112	1	324	0.0031	196	c.475 others(211): Show c.475+650_475+651insCGCTACCCATTGTGAGATCCACATTTGACG CTACCCATTGTGAGATCCACATTTGACGCTACCCATTGTGAGATCCACAT TTGACGCTACCCATTGTGAGATCCACATTTGACGCTACCCATTGTGAGAT CCACATTTGATGCTACCCATTGTGAGATCCACATTTGACGCTACCCATTG TGAGATCCACATTTGA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYRM4_chr6_5103419_5265950	5135010	G G	GCTGTGGA others(189): Show GCTGTGGAGGGTGCGGATCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACT CCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGG TTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGG GTGCGGATCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0197 a0002c0002t0005g0197	1	277	0.0036	196	c.208 others(215): Show c.208-25520_208-25519insTCCCGGGAGTGAACCGCACCCTCCAC AGCCCCGGGAGAGATCCGCACCCTCCACAGCCCCGGGAGCGATCCGCACC CTCCACAGTCCCGGGAGTGAACCGCACCCTCCACAGTCCCGGGAGCGATC CGCACCCTCCACAGTCCCGGGAGTGAACCGCACCCTCCACAGCCCCGGGA GAGATCCGCACCCTCCACAG	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MACROD2_chr20_13990516_16058197	14862420	T T	TATATATA others(189): Show TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	20	0.0500	196	c.418 others(217): Show c.418+177468_418+177469insAATATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(189): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	360	0.0028	196	c.-11 others(207): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAN1B1_chr9_137081985_137114183	137102285	T T	TCACGCTG others(189): Show TCACGCTGTTGCAGACGTGCAGGTCGGTGCTGTTACACACATTCATGCTG TTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGTGTGCAGGT CGGTGGTGGTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTG GTGCATTCATGCTGTTGCAGGAGTACAGGTCGGTGGCGTTACATTCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	404	0.0025	196	c.125 others(213): Show c.1254+616_1254+617insGCTGTTGCAGACGTGCAGGTCGGTGCTG TTACACACATTCATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGC TGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCACGCTGTTGCAG GCGTGCAGGTCGGTGGTGGTGCATTCATGCTGTTGCAGGAGTACAGGTCG GTGGCGTTACATTCACAC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137102356	T T	TACACACA others(189): Show TACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTACATTCACAC TGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTG CAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGG TGGTGTTACATTAACACTTGCAGGCGTGCAGGTCGGTGGTGTTACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0128 a0002c0003t0002g0128	1	404	0.0025	196	c.125 others(213): Show c.1254+687_1254+688insCACATTCACGCTGTTGCAGGCGTGCAGG TCGGTGGTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACA TTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGT TGCAGGCGTGCAGGTCGGTGGTGTTACATTAACACTTGCAGGCGTGCAGG TCGGTGGTGTTACACACA	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAP3K15_chrX_19355059_19520508	19477982	G G	GGAGAGAG others(189): Show GGAGAGAGGGAGGGGAGGGGGGAGTGGGGGGAGGGGGGGAGGGGGGGGGA GGGGGGGAGGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG AGGGGGGAGGAGGGGAGAGGGGGGAGGAGGGGGGAGGGGGAGAGGGGGGA GGGGGAGAGGGGGGAGGGGAGAGGGGGGGAGGGGGGGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	151	0.0066	196	c.525 others(213): Show c.525+8499_525+8500insTCCCCCCTCTCCCCCCCTCCCCCCCTCT CCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCCTCCCCC CTCTCCCCTCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC CTCTCCCCCCCTCCCCCCCTCCCCCCCCCTCCCCCCCTCCCCCCACTCCC CCCTCCCCTCCCTCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396568	C C	CTATATAT others(189): Show CTATATATTCACATATATATATTCACATATATATTCACATATATAGATTC ATATATATATATTCATATATAGATTCATATATATATATTCATATATAGAT TCATATATATATATTCATATATAGATTCATATATAGATTCATATATAGAT TCATATATATTCATATATAGATTCATATATATTCATATATAGATTCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	180	0.0056	196	c.343 others(213): Show c.343-4235_343-4234insTGAATCTATATATGAATATATATGAATC TATATATGAATATATATGAATCTATATATGAATCTATATATGAATCTATA TATGAATATATATATATGAATCTATATATGAATATATATATATGAATCTA TATATGAATATATATATATGAATCTATATATGTGAATATATATGTGAATA TATATATGTGAATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54188026	A A	AAAGGAAG others(189): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	371	0.0027	196	c.206 others(211): Show c.206+190_206+191insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(189): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACACATGTACATATATGTACATATG TACACATGTACATATATGTACATATATGTACATATATGTACATATATGTA CATATATGTACATATGTATATATGTACATATATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0033 a0002c0001t0033	a0002c0001t0033g0142 a0002c0001t0033g0142	1	89	0.0112	196	c.627 others(213): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATACATATGTACATATATGTACATATATGTACATATATGTACATATATGT ACATATATGTACATGTGTACATATGTACATATATGTACATGTGTACATAT ATACATATATACATATATGTACATATATACATATATACATATATACATAT ATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(189): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTATATATGTACATATATGTATATATG TATATATGTACATATGTACATATATGTACATATGTACACATGTACATATG TACATATGTACACATGTACACATGTACATATATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0053 a0004c0053	a0004c0053t0001 a0004c0053t0001	a0004c0053t0001g0114 a0004c0053t0001g0114	1	89	0.0112	196	c.627 others(213): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATGT GTACATGTGTACATATGTACATATGTACATGTGTACATATGTACATATAT GTACATATGTACATATATACATATATACATATATGTACATATATACATAT ATACATATATACATATATGTACATATATACATATATACATATATACATAT ATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94243318	T T	TATATGCG others(189): Show TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	197	0.0051	196	c.-66 others(215): Show c.-66+11655_-66+11656insTATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUB_chr4_109555246_109693719	109597335	A A	AGACGGGG others(189): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(49): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG01071.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02698.hp2 HG03017.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp1 NA18939.hp1 NA18946.hp1 NA18949.hp2 NA18955.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0002 a0003c0003t0001 a0003c0003t0007 a0003c0007t0001	a0001c0001t0001g0258 a0001c0001t0003g0070 a0001c0001t0005g0284 others(48): Show a0001c0001t0001g0258 a0001c0001t0003g0070 a0001c0001t0005g0284 a0002c0002t0002g0283 a0003c0003t0001g0044 a0003c0003t0001g0085 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0208 a0003c0003t0001g0215 a0003c0003t0001g0218 a0003c0003t0001g0228 a0003c0003t0001g0234 a0003c0003t0001g0236 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0287 a0003c0003t0001g0294 a0003c0003t0001g0299 a0003c0003t0001g0308 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0007g0006 a0003c0007t0001g0103 a0003c0007t0001g0272 a0003c0007t0001g0273	52	238	0.2185	196	c.99+ others(213): Show c.99+36930_99+36931insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGAC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597335	A A	AGACGGGG others(189): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp2 HG02257.hp1 others(4): Show HG01891.hp2 HG01975.hp2 HG02257.hp1 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0001c0001t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0042 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0004g0056 a0003c0003t0001g0054 a0003c0003t0001g0055	7	193	0.0363	196	c.99+ others(213): Show c.99+36930_99+36931insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGAC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597335	A A	AGACGGGG others(189): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0310 a0002c0002t0002g0310	1	187	0.0053	196	c.99+ others(213): Show c.99+36930_99+36931insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGAC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597356	G G	GGGGGGCT others(189): Show GGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0311 a0003c0003t0001g0311	1	331	0.0030	196	c.99+ others(213): Show c.99+36930_99+36931insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGAC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597502	C C	CGGGGGGC others(189): Show CGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	323	0.0031	196	c.99+ others(213): Show c.99+37091_99+37092insGCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCT	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597531	G G	GGACGGGG others(189): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	332	0.0030	196	c.99+ others(213): Show c.99+37115_99+37116insGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597531	G G	GGACGGGG others(189): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04115.hp1 HG03834.hp2 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0059 a0003c0003t0001g0264 a0001c0001t0004g0059 a0003c0003t0001g0264	2	333	0.0060	196	c.99+ others(213): Show c.99+37115_99+37116insGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCUB_chr4_109555246_109693719	109597535	G G	GGGGCGGC others(189): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02818.hp2 others(6): Show HG01255.hp1 HG01884.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0012t0001g0052	9	250	0.0360	196	c.99+ others(213): Show c.99+37115_99+37116insGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGC	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(189): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	85	0.0118	196	c.107 others(215): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(189): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG06807.hp1 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0004 a0001c0001t0008g0134 a0001c0001t0001g0004 a0001c0001t0008g0134	2	86	0.0233	196	c.107 others(215): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MIER2_chr19_300573_349796	307796	A A	ATAGGTGT others(189): Show ATAGGTGTAAACAATGCCGGGGGCACTGCAGAGGGTAAATACAGGGTCTG TGGAATACACAGACTTAGGTGTAAACAATGCCGGGGCGGGGCGCTGCAGA GGGTAAATACAGGGTCTGTGGAATACACAGACTTAGGTGTAAACAATGCC GGGGGCACTGCAGAGGGTAAATACAGGGTCTGTGGAATACACAGACT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	363	0.0028	196	c.119 others(213): Show c.1199-261_1199-260insAGTCTGTGTATTCCACAGACCCTGTATT TACCCTCTGCAGTGCCCCCGGCATTGTTTACACCTAAGTCTGTGTATTCC ACAGACCCTGTATTTACCCTCTGCAGCGCCCCGCCCCGGCATTGTTTACA CCTAAGTCTGTGTATTCCACAGACCCTGTATTTACCCTCTGCAGTGCCCC CGGCATTGTTTACACCTA	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	12/13			chr19	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(189): Show TGTATATATATATATGTATATATATATGTATATATATGTGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATGTGTATATATATGTATA TATATATATGTATATATATGTATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	59	0.0169	196	c.484 others(211): Show c.484-693_484-692insGTATATATATATATACATATATATATACAT ATATATACATATATATATATACATATATATACACATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ATACATATATATATACATATATATATACACATATATATACATATATATAT ACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767748	G G	GGGGGCGC others(189): Show GGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGT GGAGGGGGGCGTGTGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	320	0.0031	196	c.159 others(213): Show c.1596+292_1596+293insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGCGCGTGGGGGTGTGTGGGGGG GGCACGTGGAGGGGGGCGTGTGGGGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767815	G G	GGGGGCGC others(189): Show GGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGG GGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	343	0.0029	196	c.159 others(213): Show c.1596+361_1596+362insTGTGGAGGGGGGCGCGTGGGGGGGCGTG GAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGT GGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAG GAGGGGCGCGTGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250678	A A	AAAGAAGA others(189): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	226	0.0044	196	c.677 others(211): Show c.677+227_677+228insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTHFD2_chr2_74193615_74222565	74203906	G G	GTTTAGTT others(189): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	380	0.0026	196	c.102 others(213): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUSK_chr9_110663791_110811558	110681088	T T	TATATTAA others(189): Show TATATTAATATTATATATATTATATAATATTATATATATTATATAATATA TATTATATATAATATATATTATATTATATATTATATTATATATATAATAT ATATAATATAATATATAATATAATATATATTATATATAATATATTATATT ATATATTATATTATATATATTATATATATAATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0142 a0002c0004t0011g0142	1	175	0.0057	196	c.80- others(211): Show c.80-1582_80-1581insTAATATTATATATATTATATAATATTATAT ATATTATATAATATATATTATATATAATATATATTATATTATATATTATA TTATATATATAATATATATAATATAATATATAATATAATATATATTATAT ATAATATATTATATTATATATTATATTATATATATTATATATATAATATA ATATATAATATAATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2127727	G G	GGCAGGCA others(189): Show GGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAGCCGCAGGCAGGCAGT ACCTCGGCGTGACGCGGTGACGCAGCCGCAGGCAGGCAGTACCTCGGCGT GACGCGGTGACGCAGCCGCAGGCAGGCAGTACCTCGGCGTGACGCGGTGA CGCAGCCGCAGGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0051 a0051	a0051c0141 a0051c0141	a0051c0141t0001 a0051c0141t0001	a0051c0141t0001g0062 a0051c0141t0001g0062	1	201	0.0050	196	c.369 others(215): Show c.3695-1372_3695-1371insACGCAGCCGCAGGCAGGCAGTACCTC GGCGTGACGCGGTGACGCAGCCGCAGGCAGGCAGTACCTCGGCGTGACGC GGTGACGCAGCCGCAGGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAG CCGCAGGCAGGCAGTACCTCGGCGTGACGCGGTGACGCAGCCGCAGGCAG TACCTCGGCGTGACGCGGTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(189): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTCCCCCTCCCCTCTCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0072 a0001c0004t0004g0072	1	32	0.0313	196	c.289 others(213): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCTC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCCTCCCCTCTCCCTCCCCTTCC CCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(189): Show TACTCTATATATATACTCTATATATATATATACACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATACTCTATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp2 NA20300.hp1 HG01975.hp1 HG01978.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0022 a0001c0001t0003g0099 a0001c0001t0003g0113 a0001c0001t0002g0022 a0001c0001t0003g0099 a0001c0001t0003g0113	3	79	0.0380	196	c.738 others(213): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TACACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATACTCTATATATA TATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331578	T T	TACTCTAT others(189): Show TACTCTATATACATATATATACTCTATATATATACTCTATATATATATAT ATACTCTATATATATATATATACTCTCTCTCTCTCCATATATATATATAT ATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATATAT ATATATATACTCTATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	42	0.0238	196	c.738 others(213): Show c.738-3926_738-3925insCTCTATATACATATATATACTCTATATA TATACTCTATATATATATATATACTCTATATATATATATATACTCTCTCT CTCTCCATATATATATATATATACTCTATATATATATATATATATACTCT CTCTCTCTCCATATATATATATATATATACTCTATATATATATATATATA TATATAGAGAGAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCOR2_chr12_124319415_124572612	124320025	G G	GGATGACC others(189): Show GGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTGGGGG TGGGTGGGATGACCTCTTTCTTTAGGGGCAGGTGGGATGACCTCTTTCTT TGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTC TTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG03654.hp1 HG03704.hp2 others(2): Show HG02129.hp2 HG03654.hp1 HG03704.hp2 NA18966.hp1 NA19000.hp1	a0001 a0005 a0028 a0001 a0005 a0028	a0001c0021 a0001c0099 a0005c0066 others(1): Show a0001c0021 a0001c0099 a0005c0066 a0028c0127	a0001c0021t0023 a0001c0021t0033 a0001c0099t0012 others(2): Show a0001c0021t0023 a0001c0021t0033 a0001c0099t0012 a0005c0066t0004 a0028c0127t0004	a0001c0021t0023g0170 a0001c0021t0033g0187 a0001c0099t0012g0012 others(2): Show a0001c0021t0023g0170 a0001c0021t0033g0187 a0001c0099t0012g0012 a0005c0066t0004g0044 a0028c0127t0004g0009	5	169	0.0296	196	c.53 others(207): Show c.5376_*5377insTCACCTACCCGCAAACAAAGAGGTCATCCCACTT ACCCCCAAAGAAAGAGGTCATCCCACCCGCCCCCAAAGAAAGAGGTCATC CCACCCGCCCCCAAAGAAAGAGGTCATCCCACCTGCCCCTAAAGAAAGAG GTCATCCCACCCACCCCCAAAGAAAGAGGTCATCCCACCTCCCCCCAAAG AAAGAGGTCATC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		4389		chr12	TogoVar
NEGR1_chr1_71390943_72287539	71928049	C C	CACACACA others(189): Show CACACACATATGTATATATACACATATGTATATATGTATATATACACACA TATGTATATACACATATGTATATATGTACATATACACACATATGTATATA CACATATGTATATATGTATATATACACACATATGTATATATACACATATG TATATATGTATATATACACACATATGTATATACACATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	54	0.0185	196	c.409 others(213): Show c.409+7029_409+7030insATATATACATATGTGTATATACATATGT GTGTATATATACATATATACATATGTGTATATATACATATGTGTGTATAT ATACATATATACATATGTGTATATACATATGTGTGTATATGTACATATAT ACATATGTGTATATACATATGTGTGTATATATACATATATACATATGTGT ATATATACATATGTGTGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTG others(189): Show CATATGTGTATATATACACACATATGTATATATGTATATATACACACATA TGTGTATATACACATATGTATATATGTATATATACACACATATGTGTATA TACACATATGTATATATGTATATATACACACATATGTGTATATACACATA TGTATATATGTATATATACACACATATGTGTATATACACATATGTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0013 a0001c0003t0006g0013	1	10	0.1000	196	c.409 others(213): Show c.409+6947_409+6948insATACATATGTGTATATACACATATGTGT GTATATATACATATATACATATGTGTATATACACATATGTGTGTATATAT ACATATATACATATGTGTATATACACATATGTGTGTATATATACATATAT ACATATGTGTATATACACATATGTGTGTATATATACATATATACATATGT GTGTATATATACACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241806087	C C	CCCCTCAA others(189): Show CCCCTCAACCCAGGAACCTCCGCAGCCACCCTCCCTCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	315	0.0032	196	c.-31 others(207): Show c.-3191_-3190insCCCTCAACCCAGGAACCTCCGCAGCCACCCTCCC TCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCTCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3105		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806758	A A	ACCCTCCC others(189): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	202	0.0050	196	c.-25 others(207): Show c.-2520_-2519insCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCT GCAGGCCACCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2434		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(189): Show CAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTC CCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCTCTGAAACCCA CCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp2 HG02273.hp1 others(1): Show HG01496.hp2 HG01943.hp2 HG02273.hp1 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0100 a0002c0002t0102 others(1): Show a0001c0001t0004 a0002c0002t0100 a0002c0002t0102 a0002c0002t0116	a0001c0001t0004g0252 a0002c0002t0100g0263 a0002c0002t0102g0229 others(1): Show a0001c0001t0004g0252 a0002c0002t0100g0263 a0002c0002t0102g0229 a0002c0002t0116g0230	4	238	0.0168	196	c.-16 others(217): Show c.-163-18247_-163-18246insTGAAGCCCACCTTCTCTCTGAAGC CCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCT CTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTC TCTCTGAAGCCCACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232900230	A A	ACTTACAC others(189): Show ACTTACACACATGCTCTCACAGTCACTCATATGCACGTTCACTCATTCAC TCACACACACGCTCACAGTCACTCATATACACGTTCACTCACATTCACTC ACACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCAC TTAGACACATGCTCTCAGTCACTCATATACACGTTCACTCACATTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02818.hp1 others(8): Show HG02572.hp2 HG02615.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0010	a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0228 others(8): Show a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0228 a0001c0003t0010g0017 a0001c0003t0010g0045 a0001c0003t0010g0099 a0001c0003t0010g0222 a0001c0003t0010g0223 a0001c0003t0010g0224 a0001c0003t0010g0225 a0001c0003t0010g0227	11	360	0.0306	196	c.829 others(213): Show c.829-5315_829-5314insAGAATGTGAGTGAACGTGTATATGAGTG ACTGAGAGCATGTGTCTAAGTGAATGTGAGTGAACGTGTATATGAGTGAC TGTGAGAGCGTGTGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTG ACTGTGAGCGTGTGTGTGAGTGAATGAGTGAACGTGCATATGAGTGACTG TGAGAGCATGTGTGTAAG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993461	C C	CCCCCCCC others(189): Show CCCCCCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCCTCTCCCCCCCTCCC CCCCCTCTCCCCCCCTCTCCCCCCCCTCCCCCCCCCTCTCCCCCCCCCTC CCCCCCCTCCCCCACCTCTCCCCCACCTCTCCCCCCCTCTCCCCCCCTCC CCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0038 a0003c0004t0038	a0003c0004t0038g0197 a0003c0004t0038g0197	1	344	0.0029	196	c.55 others(207): Show c.5548_*5549insCCCCCCCCTCCCCCCCTCCCCCCCCCCTCCCCCC CTCTCCCCCCCTCCCCCCCCTCTCCCCCCCTCTCCCCCCCCTCCCCCCCC CTCTCCCCCCCCCTCCCCCCCCTCCCCCACCTCTCCCCCACCTCTCCCCC CCTCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCTCCC CCTCCCCCCTCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4833		chr19	TogoVar

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