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
KLHDC4_chr16_87702812_87770986	87739111	C C	CCTCATCC others(196): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCA GCAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	235	0.0043	203	c.507 others(220): Show c.507-8468_507-8467insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739131	G G	GCACCTCA others(196): Show GCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCA CACACCAGCATCTCATCCATCCACACACCAGCATCTCATCCATCCACACA CCAC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	378	0.0026	203	c.507 others(220): Show c.507-8488_507-8487insGTGGTGTGTGGATGGATGAGATGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LDLRAD4_chr18_13213760_13657751	13494662	A A	AGTGAGAC others(196): Show AGTGAGACTCCATCTCCACTAAAATATATATATATATAAAATATTATATT TATATATTATATATATAATATATATATAATATTATTTTATATATATTATA TATATAATATTATATATATAATATATATAATATAATATTATATATATTAT ATATATAATATATATAATATAATATTATATATATTATATATATAAAATTA TATT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	43	0.0233	203	c.181 others(222): Show c.181+56278_181+56279insGTGAGACTCCATCTCCACTAAAATAT ATATATATATAAAATATTATATTTATATATTATATATATAATATATATAT AATATTATTTTATATATATTATATATATAATATTATATATATAATATATA TAATATAATATTATATATATTATATATATAATATATATAATATAATATTA TATATATTATATATATAAAATTATATT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATAAA others(196): Show TATATAAAATATATATAATATATATTATATATAAAATATATATAATATAT ATTATATATAAAATATATAATATATATTATATAAAATATATATAATATAT ATTATATATAAAATATATAATATATATTATATAAAATATATAATATATAT TATATAAAATATATAATATATATTATATATAAAATATATAATATATTATA TAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp1 HG01884.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0277 a0001c0001t0002g0278	2	249	0.0080	203	c.42+ others(216): Show c.42+347_42+348insAAATATATATAATATATATTATATATAAAATA TATATAATATATATTATATATAAAATATATAATATATATTATATAAAATA TATATAATATATATTATATATAAAATATATAATATATATTATATAAAATA TATAATATATATTATATAAAATATATAATATATATTATATATAAAATATA TAATATATTATATAAAATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	936103	T T	TGGCTGAG others(196): Show TGGCTGAGGAAGGAGGCTGGGAGGGAGAGAGGGCACCCCGTGGGCTGAGG AAGGAGGCTGGGAGGGAGAGAGGGCACCCCGTGGGCTGAGGAAGGTGGCT GGGAGAGAGAGGGGGCACCGTGTGGGCTGAGGAAGGAGGCTAGGAGAGAG GGGATACCCCGTGGGCTGAGGAAGCAGGCTGGGAGGGAGAGAGGGCACCC CGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0268 a0001c0022t0001g0268	1	292	0.0034	203	c.504 others(220): Show c.504-1850_504-1849insCACGGGGTGCCCTCTCTCCCTCCCAGCC TGCTTCCTCAGCCCACGGGGTATCCCCTCTCTCCTAGCCTCCTTCCTCAG CCCACACGGTGCCCCCTCTCTCTCCCAGCCACCTTCCTCAGCCCACGGGG TGCCCTCTCTCCCTCCCAGCCTCCTTCCTCAGCCCACGGGGTGCCCTCTC TCCCTCCCAGCCTCCTTCCTCAGCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(196): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATATTATTATAT GTATATAAATATATATATTTATTAATATATATAAATATATATATTTATTA ATAATATATATAATATATATATAATATATAATATATAATATATAATATAT ATTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	225	0.0044	203	c.622 others(218): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATATTATTATATGTATATAAATATATATATTTATTAATATATA TAAATATATATATTTATTAATAATATATATAATATATATATAATATATAA TATATAATATATAATATATATTT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(196): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATTATTATATAT ATATAAATATATATATTTATTAATATATATATAAATATATATATTTATTA ATAATATATATAATATATATATAATATATAATATATAATATATAATATAT ATTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19059.hp2 NA19089.hp2 others(1): Show NA18950.hp1 NA19059.hp2 NA19089.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0034 a0002c0002t0002g0092 others(1): Show a0002c0002t0002g0020 a0002c0002t0002g0034 a0002c0002t0002g0092 a0002c0002t0002g0109	4	228	0.0175	203	c.622 others(218): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATATATATAAATATATATATTTATTAATATATATA TAAATATATATATTTATTAATAATATATATAATATATATATAATATATAA TATATAATATATAATATATATTT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867164	G G	GGTGTGTG others(196): Show GGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGT GGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGG GGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTGT GTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG03471.hp2 others(1): Show HG00738.hp2 HG01346.hp1 HG03471.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0127 a0001c0001t0001g0196 a0001c0001t0001g0279 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0196 a0001c0001t0001g0279 a0001c0001t0003g0064	4	98	0.0408	203	c.130 others(220): Show c.1309-185_1309-184insTGTTGGGGGGTGGGGTGTGTGTGTGTGT GGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGT GGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTT GGGGGGTGGGGTGTGTGTGTGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LY75_chr2_159798355_159909756	159873772	C C	CATATAGT others(196): Show CATATAGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATA AACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAA TACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTT TGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGT ATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0032 a0032	a0032c0049 a0032c0049	a0032c0049t0001 a0032c0049t0001	a0032c0049t0001g0223 a0032c0049t0001g0223	1	313	0.0032	203	c.197 others(222): Show c.1975-1180_1975-1179insATATACGTTTATATGTATTTTTACAA AATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTAT TTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTT ATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATAT ATACGTTTATATGTATTTTTACTATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(196): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTT CTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	378	0.0026	203	c.40 others(214): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGG AAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAEA_chr4_1284891_1345137	1335860	T T	TCAGAGTT others(196): Show TCAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTA AGTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTAAGTCAGCAC CTGCCCTGCAGTGTGTTGAAATCAGAGTTAAGTCAGCACCTGCCCTGCAG TGTGTTGAAATCACAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAA ATCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	386	0.0026	203	c.766 others(218): Show c.766-959_766-757dupCAGAGTTAAGTCAGCACCTGCCCTGCAGTG TGTTGAAATCACAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAAAT CAGAGTTAAGTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTAA GTCAGCACCTGCCCTGCAGTGTGTTGAAATCACAGAGTTAAGTCAGCACC TGCCCTGCAGTGTGTTGAAATCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(196): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATATTAATATAT ATTAATATATATTAATATATATATTAATATATATTAATTATATATATTAA TTATATATATTAATATATATTAATTATATATATTAATTATATATATTTAT ATAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	75	0.0133	203	c.316 others(222): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATATTAATATATATTAATATATATTAATATATATATTAAT ATATATTAATTATATATATTAATTATATATATTAATATATATTAATTATA TATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(196): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATATAACTATATATTAATTATATATATTAATATAT ATTAATATATATTAATATATATATTAATATATATTAATTATATATATTAA TTATATATATTAATATATATTAATTATATATATTAATTATATATATTTAT ATAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0134	1	75	0.0133	203	c.316 others(222): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATATAACTATATA TTAATTATATATATTAATATATATTAATATATATTAATATATATATTAAT ATATATTAATTATATATATTAATTATATATATTAATATATATTAATTATA TATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGAGAGAG others(196): Show GGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGGAGAGGGGGGGGGGGAGGGGGGGGGAGAGGGGGGAGGGGGAGAGGGGG AGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGGA GGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGG GGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	96	0.0104	203	c.525 others(220): Show c.525+8478_525+8479insTCCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCTCCCCCCTCTCCCCCCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCTC CCCCCCCCTCCCCCCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCTCCCCTCCCCCCTCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCO_chr2_118937194_118999660	118972995	A A	AACTCTCT others(196): Show AACTCTCTCTCTCCATGTCTCTCTCTCTGTCTCTCTGAATATAGATGTAT GTACATAGAGAAAAACTCCAACTCTCTCTCTCCATGTCTCTCTCTCTGTC TCTCTGAATATAGATGTATGTACATAGAGAAAAACTCCGACTCTCTCCAT GTCTCTCTCTCTGTCTCTCTGAATATAGATGTATGTACACAGAGAAAAAC TCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	392	0.0026	203	c.461 others(220): Show c.461-1136_461-1135insCACTCTCTCTCTCCATGTCTCTCTCTCT GTCTCTCTGAATATAGATGTATGTACATAGAGAAAAACTCCAACTCTCTC TCTCCATGTCTCTCTCTCTGTCTCTCTGAATATAGATGTATGTACATAGA GAAAAACTCCGACTCTCTCCATGTCTCTCTCTCTGTCTCTCTGAATATAG ATGTATGTACACAGAGAAAAACTCC	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEGF11_chr15_65890299_66258750	66212004	T T	TAGGTGAG others(196): Show TAGGTGAGCAGAGTTGCTCTCAGCTCCAGTTCTCGTTGGGCTCCTGCGAC CCTTCTGCTTGTGGCAGGGCAGGACTGTGGGAATCCACAAGCAATGTGAA AACACTCAGGACTTTGCAATGGTGGGAAGACATCACCATGACAAGTCCTG AAGGGCAAAGAGAAGAGAGAAGCAGAAGGGTCGCAGGAGCCCTGCGAGAA CTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01167.hp1 others(11): Show HG00597.hp1 HG00735.hp1 HG01167.hp1 HG01433.hp1 HG01516.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG03453.hp2 NA19066.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0012 a0012c0011	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0002c0005t0001 a0002c0012t0001 a0012c0011t0001	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0112 others(11): Show a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0004g0047 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0068 a0002c0002t0001g0084 a0002c0002t0006g0063 a0002c0002t0012g0127 a0002c0005t0001g0049 a0002c0012t0001g0126 a0012c0011t0001g0051	14	174	0.0805	203	c.-9+ others(220): Show c.-9+41600_-9+41601insCCAGTTCTCGCAGGGCTCCTGCGACCCT TCTGCTTCTCTCTTCTCTTTGCCCTTCAGGACTTGTCATGGTGATGTCTT CCCACCATTGCAAAGTCCTGAGTGTTTTCACATTGCTTGTGGATTCCCAC AGTCCTGCCCTGCCACAAGCAGAAGGGTCGCAGGAGCCCAACGAGAACTG GAGCTGAGAGCAACTCTGCTCACCT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGT others(196): Show TCCCCAGTGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCT GGGGAGACCCAGCACCTCCGCAGAACCCCTCCTCAGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACCCCTCCTCAGCC CGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0035 a0035	a0035c0068 a0035c0068	a0035c0068t0032 a0035c0068t0032	a0035c0068t0032g0274 a0035c0068t0032g0274	1	267	0.0037	203	c.481 others(220): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGAGGAGGG GTTCTGCGGAGGTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTC CTGCCCACTCCACGTTCCACTGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090345	C C	CCCCCACA others(196): Show CCCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGC CCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACA CACCCCCCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACA CACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0015 a0001c0003t0003g0015	2	373	0.0054	203	c.557 others(220): Show c.557-2821_557-2820insCCCACACACACACCCCGCCCCACACACA CACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCGCCCCACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACACCCCCCCCCACACACACCCCGCCCCACA CACACACCCCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(196): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCGCCCCAGGGTGGGAGCC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0321 a0001c0001t0015g0321	1	259	0.0039	203	c.557 others(220): Show c.557-2656_557-2655insCGCCCCGCCCCAGGGTGGGAGCCACACA CCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACAC ACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACC CCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(196): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	259	0.0039	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCG CCCCACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(196): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0175 a0001c0009t0001g0175	1	259	0.0039	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCCACACACCCCC GCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACA CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCG CCCCACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090505	C C	CCCCCCCG others(196): Show CCCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCC CCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACA CACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACA CACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0264 a0001c0003t0002g0264	1	380	0.0026	203	c.557 others(220): Show c.557-2662_557-2661insCCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACAC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACA CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACA	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3			chr17	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(196): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AGCCACACACACACACACCCCCCCACACACACACCCCCCGCCCCACACAC ACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	255	0.0039	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACACACCCCCCCACACACACACCCCCC GCCCCACACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(196): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AGCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	255	0.0039	203	c.557 others(220): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(196): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACAGCCGGGAGCTATAGAAACACCGCCCGG AGCTGTAGAAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAA CACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	131	0.0076	203	c.984 others(220): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCGGTGTTTCTATAGCTCCC GGCTGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTC TATAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTTTCTGCAGCTCC GGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(196): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACAGCCGGGAGCTATAGAAACACGGCCCGG AGCTGTAGAAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAA CACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01081.hp2 others(46): Show HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18951.hp2 NA18961.hp2 NA18971.hp2 NA18975.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19081.hp2 NA19090.hp2 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0001c0022 a0009c0026	a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 others(4): Show a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 a0001c0011t0002 a0001c0014t0002 a0001c0022t0002 a0009c0026t0002	a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 others(44): Show a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0246 a0001c0003t0002g0015 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0185 a0001c0005t0002g0013 a0001c0005t0002g0129 a0001c0005t0002g0130 a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0244 a0001c0005t0002g0245 a0001c0011t0002g0267 a0001c0011t0002g0283 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0022t0002g0326 a0009c0026t0002g0128	49	179	0.2737	203	c.984 others(220): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTC TATAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTTTCTGCAGCTCC GGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIER2_chr19_300573_349796	310590	C C	CAGAAACA others(196): Show CAGAAACAGGCCGGGAGCTGTAGAAACATGGCCCGGAGCTATAGAAACGG CCCAGAGTCCAGAAACACAGCCCGGAGCTGTAGAAACACGGCCGGGAGCT GCAGAAACACAGCCGGGAGCTATAGAAACACGGCCCGGAGCTGTAGAAAC ACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACACAGCCCGGAG CTAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0017 a0001c0010t0001g0017	2	382	0.0052	203	c.984 others(220): Show c.984+1254_984+1255insATAGCTCCGGGCTGTGTTTCTGGACTCT GGGCCGTTTCTATAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTT TCTATAGCTCCCGGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGC TCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATG TTTCTACAGCTCCCGGCCTGTTTCT	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237543215	G G	GGGGGGAC others(196): Show GGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAA GTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGT GTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGTACAGT GAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0119 a0006c0006t0003g0119	1	282	0.0035	203	c.153 others(220): Show c.1539+560_1539+561insGACAGTGGTGAGTGGGGGGATGGTGAGT GGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTG GTGAGTGGGGGTACAGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MNT_chr17_2379073_2406060	2380409	C C	CAGTTCGA others(196): Show CAGTTCGAGGGCAGCCCATTATCTGTCGCAGACATCTGCCATGTCCCTGA GACTGCGGGAGGCAGGGGATGCATGGGTGTCCCCATCTGTCCCTGGTGAG AAGCAAGGCTAGCTCTGCCTTCCACATGCTTCTCAGGATGCCAAGAGGCC TAGGAACCCAGAAACCCCCTTGGAGGAGCTGTGTATGCGGGGGTGCCAGG AAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	442	0.0023	203	c.62 others(214): Show c.6289_*6491dupCCTTCCTGGCACCCCCGCATACACAGCTCCTCCA AGGGGGTTTCTGGGTTCCTAGGCCTCTTGGCATCCTGAGAAGCATGTGGA AGGCAGAGCTAGCCTTGCTTCTCACCAGGGACAGATGGGGACACCCATGC ATCCCCTGCCTCCCGCAGTCTCAGGGACATGGCAGATGTCTGCGACAGAT AATGGGCTGCCCTCGAACT	MNT	ENSG00000070444.15	transcript	ENST00000174618.5	protein_coding		3663		chr17	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(196): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTATAT ATATAATATATATTATATATAATATATATTATATATATATAATATATATT ATATATAATATATATTATATATATATAATATATATTATATATATTTTAAA TATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0086 a0012c0025t0001g0086	1	50	0.0200	203	c.547 others(220): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATATAATA TATATTATATATAATATATATTATATATATAATATATATTATATATTATA ATATATAATATATATTATATATTATATATATAATATATATTATATATATT ATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(196): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TTATATATATATATTATAATATATATTATATATATTATATATATAATATA TATAATATATATATTATATATATATTATATATATATATAATATATATAAT ATAATATATATATATATTATATATATAATATATATTATATATATTTTAAA TATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02896.hp1 others(1): Show HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0033 a0001c0003 a0001c0033	a0001c0003t0001 a0001c0033t0001 a0001c0003t0001 a0001c0033t0001	a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0096 others(1): Show a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0096 a0001c0033t0001g0045	4	53	0.0755	203	c.547 others(220): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATATATATTATATTATATATATTATATATATATAT AATATATATATAATATATATATTATATATATTATATATATAATATATATA ATATATATTATAATATATATATATAATATATAATATATATTATATATATT ATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(196): Show TAATATATATTATATATATAATATATAATATATATTATATATATAATATA TAATATATAATATATATTATATATATAATATATAATATATATAATATATA TTATATATATAATATATAATATATAATATATATTATATATATAATATATA TTATATATAATATATATTATATATATAATATATATTATATATATTTTAAA TATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	50	0.0200	203	c.547 others(220): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATATATTATATATATAATATATATTATATATATTATATATT ATATATATAATATATATTATATATTATATATTATATATATAATATATATT ATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO16_chr13_108624611_109213005	109023305	T T	TATATATA others(196): Show TATATATATTTATATATTATACAGATATAAATATATATTTATATATTATA CAGATATAAATATATATTTATATATTATACAGATATAAATATATATTTAT ATATTATACAGATATAAATATATATTTATATATTATACAGATATAAATAT ATATTTATATATTATACAGATATAAATATATATTTATATATTATACAGAT ATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0100 a0001c0025t0004g0100	1	79	0.0127	203	c.279 others(222): Show c.2796+3403_2796+3605dupTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATATTTATATATTA TACAGATATAAATATATATTTATATATTATACAGATATAAATATATATTT ATATATTATACAGATATAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYT1_chr20_64159452_64247253	64175587	T T	TAGCATCT others(196): Show TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTC CTGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0127 a0001c0002t0006g0127	1	91	0.0110	203	c.-99 others(222): Show c.-99+10859_-99+10860insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCGTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176127	C C	CCTGCAGC others(196): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	200	0.0050	203	c.-99 others(222): Show c.-99+11440_-99+11441insCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTCCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALADL2_chr3_174854334_175815548	174962383	T T	TATATGTC others(196): Show TATATGTCATAGTGACTATGACATATATATATATATATATGTCATAGTCA CTATGACATATATATATATATGTCATAGTGACTATGACATATATATATAT GTCATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATAT ATATATATGTCATAGTGACTATGACATATATATATATGTCATAGTGACTA TGAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	59	0.0169	203	c.43+ others(222): Show c.43+102937_43+102938insGTCATAGTGACTATGACATATATATA TATATATATGTCATAGTCACTATGACATATATATATATATGTCATAGTGA CTATGACATATATATATATGTCATAGTGACTATGACATATATATATATGT CATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATATAT ATATATGTCATAGTGACTATGACATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174962383	T T	TATATGTC others(196): Show TATATGTCATAGTGACTATGACATATATATATATATATATGTCATAGTGA CTATGACATATATATATATATGTCATAGTGACTATGACATATATATATAT GTCATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATAT ATATATATGTCATAGTGACTATGACATATATATATATGTCATAGTGACTA TGAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0018 a0004c0002t0018	a0004c0002t0018g0003 a0004c0002t0018g0003	1	59	0.0169	203	c.43+ others(222): Show c.43+102937_43+102938insGTCATAGTGACTATGACATATATATA TATATATATGTCATAGTGACTATGACATATATATATATATGTCATAGTGA CTATGACATATATATATATGTCATAGTGACTATGACATATATATATATGT CATAGTGACTATGACATATATATATATGTCATAGTGACTATGACATATAT ATATATGTCATAGTGACTATGACATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(196): Show CTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTAT AGTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAGTATACATATATGTATAGTATACATATATGTATACTATACGTATAGTA TACATATATGTATACTATACGTATAGTATACATATATGTATACTATACGT ATAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	18	0.0556	203	c.137 others(220): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATAGTATACATATATGTATAGTATACATAT ATGTATAGTATACATATATGTATAGTATACATATATGTATACTATACGTA TAGTATACATATATGTATACTATACGTATAGTATACATATATGTATACTA TACGTATAGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(196): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGCAGTCCG ACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	159	0.0063	203	c.291 others(220): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NBAS_chr2_15161916_15566334	15402828	A A	AAGAAAGA others(196): Show AAGAAAGATGGCTACTTAGGGTGACTTTCTGTATAGAACAAAGCATTTCC CATGGCAAACCACAGATTCCCATTCTTGGAGTATTTTCCAGGATATGAAA ATAACCAATTGATTTTTTTCTCATCTATAAAGCATGAATATTAACAATAC CTTTCTAAGAAGACTATTTCAAGGATTAAATTAATAAATATAGAATGAAA ATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01358.hp2 others(9): Show HG00408.hp2 HG00438.hp2 HG01358.hp2 HG02451.hp2 HG02698.hp1 HG03540.hp2 HG04199.hp1 NA18948.hp1 NA18963.hp2 NA19010.hp2 NA19072.hp1 NA19084.hp1	a0005 a0008 a0010 others(1): Show a0005 a0008 a0010 a0016	a0005c0006 a0005c0051 a0008c0014 others(2): Show a0005c0006 a0005c0051 a0008c0014 a0010c0013 a0016c0052	a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 others(2): Show a0005c0006t0001 a0005c0051t0001 a0008c0014t0001 a0010c0013t0001 a0016c0052t0001	a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 others(9): Show a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0051t0001g0137 a0008c0014t0001g0133 a0008c0014t0001g0134 a0010c0013t0001g0131 a0010c0013t0001g0132 a0016c0052t0001g0135	12	222	0.0541	203	c.293 others(220): Show c.2938-528_2938-527insATATTTTCATTCTATATTTATTAATTTA ATCCTTGAAATAGTCTTCTTAGAAAGGTATTGTTAATATTCATGCTTTAT AGATGAGAAAAAAATCAATTGGTTATTTTCATATCCTGGAAAATACTCCA AGAATGGGAATCTGTGGTTTGCCATGGGAAATGCTTTGTTCTATACAGAA AGTCACCCTAAGTAGCCATCTTTCT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	25/51			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667549	C C	CTCTTACC others(196): Show CTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	305	0.0033	203	c.148 others(222): Show c.1480-2800_1480-2799insAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667781	C C	CCCTTACC others(196): Show CCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCTCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	299	0.0033	203	c.148 others(222): Show c.1480-3032_1480-3031insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGAGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTTGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667840	C C	CCTTACCC others(196): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCG CCCT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	266	0.0038	203	c.148 others(222): Show c.1480-3091_1480-3090insAGGGCGGAGGGACCCAGTTGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(196): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCG CCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0130 a0013c0015t0002g0130	1	253	0.0040	203	c.148 others(222): Show c.1480-3293_1480-3292insAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGCCACAGGGTAGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668245	C C	CTTACCCA others(196): Show CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTAC CCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCC CCCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA21309.hp1 HG02886.hp1 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0330 a0003c0006t0001g0332 a0003c0006t0001g0330 a0003c0006t0001g0332	2	363	0.0055	203	c.147 others(222): Show c.1479+3268_1479+3269insCGGGGGGCGGAGGGACCCAGGGTCGG TAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAG GGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCK2_chr2_105739912_105899272	105840978	G G	GGACAGAC others(196): Show GGACAGACCAGTTGTAACTTTAGGTCAGTAATTGAGGTCTACCTTCTAAT TCTCCACACTGATAGTGTGGATTACAAGCTTATCTTCCCAGGTGCAGAAC AAGTCCAGACTCATTTCTTCCACCTACCCAGAGATGACTGCATAATTGTC TCTTCCGACATTCACTTTATCTGATGTAAAATGTAGATTTACTGGGCACT AACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp2 HG03041.hp1 others(1): Show HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 others(1): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0281	4	332	0.0120	203	c.-16 others(222): Show c.-16-14069_-16-13867dupGACAGACCAGTTGTAACTTTAGGTCA GTAATTGAGGTCTACCTTCTAATTCTCCACACTGATAGTGTGGATTACAA GCTTATCTTCCCAGGTGCAGAACAAGTCCAGACTCATTTCTTCCACCTAC CCAGAGATGACTGCATAATTGTCTCTTCCGACATTCACTTTATCTGATGT AAAATGTAGATTTACTGGGCACTAACC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCS1_chr9_130167404_130242303	130221958	A A	AATATAAA others(196): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02698.hp2 HG03710.hp2 HG01361.hp1 HG02698.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0073 a0001c0002t0185 a0001c0002t0009 a0001c0002t0073 a0001c0002t0185	a0001c0002t0009g0092 a0001c0002t0073g0028 a0001c0002t0185g0145 a0001c0002t0009g0092 a0001c0002t0073g0028 a0001c0002t0185g0145	3	292	0.0103	203	c.308 others(218): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221958	A A	AATATAAA others(196): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATCTATAAATATATAT ACAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18959.hp1 HG01934.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0180 a0001c0002t0011 a0001c0002t0180	a0001c0002t0011g0129 a0001c0002t0180g0257 a0001c0002t0011g0129 a0001c0002t0180g0257	2	291	0.0069	203	c.308 others(218): Show c.308-691_308-690insTATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATCTATAAATATATATACATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805556	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0033 a0002c0003t0002g0033	2	185	0.0108	203	c.-37 others(214): Show c.-3722_-3721insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(196): Show TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGAGACCTCCGCAGGCCAC TCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGA GACCTCCGCAGGCCACTCTCCCTCCCCCTCAGCCCAGAGACCTCTGCAGG CCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0026 a0001c0006t0001g0026	1	247	0.0040	203	c.-33 others(214): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGAG ACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCCTCAGCCC AGAGACCTCTGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar

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