Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KREMEN1_chr22_29068035_29151820	29120109	A A	AACAGGGA others(165): Show AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAG GAAGGAGAGGTGATGAAGGAAAC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18963.hp2 NA18966.hp1 others(4): Show NA18955.hp2 NA18963.hp2 NA18966.hp1 NA18986.hp1 NA19003.hp1 NA19010.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0018 a0001c0002t0022 a0001c0002t0004 a0001c0002t0018 a0001c0002t0022	a0001c0002t0004g0056 a0001c0002t0018g0004 a0001c0002t0022g0031 others(3): Show a0001c0002t0004g0056 a0001c0002t0018g0004 a0001c0002t0022g0031 a0001c0002t0022g0037 a0001c0002t0022g0044 a0001c0002t0022g0057	7	368	0.0190	172	c.353 others(189): Show c.353-1247_353-1246insCAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAG AGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGAAGGAAACA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120221	A A	AACAGGGA others(165): Show AACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGATGGAAATGGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAG GAGGGAGAGGTGATGAAGGAAAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0045 a0001c0002t0003g0045	1	368	0.0027	172	c.353 others(189): Show c.353-1135_353-1134insCAGGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAG AGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120286	G G	GGGAGAGG others(165): Show GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGATGCAAACAGGGAGGAAGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	368	0.0027	172	c.353 others(188): Show c.353-1000_353-999insTGCAAACAGGGAGGAAGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120286	G G	GGGAGAGG others(165): Show GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAAGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(67): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01358.hp1 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp2 HG02572.hp1 HG03017.hp1 HG03471.hp2 HG03492.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19090.hp1 NA20129.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0004 a0003c0006 others(1): Show a0001c0001 a0003c0004 a0003c0006 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0003c0004t0007 a0003c0004t0010 a0003c0004t0046 a0003c0006t0007 a0012c0015t0010	a0001c0001t0001g0170 a0001c0001t0002g0008 a0001c0001t0002g0009 others(65): Show a0001c0001t0001g0170 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0003g0175 a0001c0001t0011g0010 a0001c0001t0011g0138 a0001c0001t0011g0139 a0001c0001t0011g0152 a0001c0001t0011g0153 a0001c0001t0011g0154 a0001c0001t0011g0157 a0001c0001t0012g0171 a0001c0001t0012g0172 a0001c0001t0015g0128 a0001c0001t0018g0123 a0001c0001t0018g0124 a0001c0001t0020g0015 a0001c0001t0020g0127 a0001c0001t0021g0016 a0001c0001t0021g0142 a0001c0001t0021g0145 a0001c0001t0074g0195 a0001c0001t0075g0150 a0001c0001t0076g0192 a0003c0004t0007g0132 a0003c0004t0007g0134 a0003c0004t0007g0160 a0003c0004t0007g0161 a0003c0004t0007g0162 a0003c0004t0007g0177 a0003c0004t0010g0163 a0003c0004t0046g0166 a0003c0006t0007g0076 a0012c0015t0010g0122	70	368	0.1902	172	c.353 others(188): Show c.353-1000_353-999insTGGAAACAGGGAGGAAGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124507111	G G	GGGGGTAG others(165): Show GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	260	0.0039	172	c.624 others(189): Show c.624+8986_624+8987insGTAGGGAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG	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(165): Show GATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTA TTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGATAGGGAGT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0215 a0004c0007t0003g0215	1	260	0.0039	172	c.624 others(189): Show c.624+9214_624+9215insTATTTCAGGTCGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGTAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507525	G G	GGGGGGAT others(165): Show GGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGTATTTCAGGTGGGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0010	1	260	0.0039	172	c.624 others(189): Show c.624+9400_624+9401insGGATAGGGAGTATTTCAGGTGGGGGGGG TAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIN28B_chr6_104952107_105088332	105023350	T T	TAATTATA others(165): Show TAATTATATTATATATAATATATATAATTATATTATATATAATATAATTA TATTATATATAATATATATAATTATATTATATATAATATAATTATATTAT ATATAATATATATAATTATATTATATATAATATAATTATATTATATATAA TATATATAATTATATTATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	278	0.0036	172	c.199 others(189): Show c.199-2947_199-2946insATTATATTATATATAATATATATAATTA TATTATATATAATATAATTATATTATATATAATATATATAATTATATTAT ATATAATATAATTATATTATATATAATATATATAATTATATTATATATAA TATAATTATATTATATATAATATATATAATTATATTATATATAA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LINGO2_chr9_27932617_29218601	28189553	A A	AAAGAAGG others(165): Show AAAGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	62	0.0161	172	c.-36 others(193): Show c.-36+105654_-36+105655insCCCTCCCTTCCTTCCTTCCTTCCT TCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28189669	G G	GAGGGAGG others(165): Show GAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAA GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGG AAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGAAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	62	0.0161	172	c.-36 others(193): Show c.-36+105538_-36+105539insTCCTCCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LOC122319696_chrX_149409877_149420506	149418521	T T	TTATATAT others(165): Show TTATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATATCATATATATAATATATATTA TATTATATATATATCATATATATAATATATATTATATTATATATATATCA TATATATAATATATATTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02451.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	313	0.0064	172	c.-30 others(183): Show c.-3045_-3044insTAATATAATATATATTATATATATGATATATATA TAATATAATATATATTATATATATGATATATATATAATATAATATATATT ATATATATGATATATATATAATATAATATATATTATATATATGATATATA TATAATATAATATATATTATATATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		3016		chrX	TogoVar
LRCOL1_chr12_132598151_132615582	132598569	G G	GCCCCGCC others(165): Show GCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCT CCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCC CCTCCTCTCCGCGCGCCCCCTCCTCCTCTCCGCGCGCCCCCTCCTCTCCG CGCGCCCCCTCCTCTCCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	172	c.48 others(183): Show c.4832_*4833insGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG GGGCGCGCGGAGAGGAGGAGGGGGCGCGCGGAGAGGAGGGGGCGCGCGGA GAGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGGGG CGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGCGGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4581		chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCAC others(165): Show CCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0226 a0001c0002t0024g0226	1	290	0.0035	172	c.129 others(189): Show c.1290-937_1290-936insCACACCCACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC3_chr21_44450510_44467196	44465618	T T	TTCTCCCT others(165): Show TTCTCCCTGTACACACACACTCTCCCTGTACACACACACACATGCTCACT CTCTCTGTACACACACGCGCATGCTCACTCTCCTTGTACACACACTCCCT GTACACACACTCCCTGTACACACACACACGCTCACTCTCCCTGTACACAC ACATTCTCCCTGTACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	172	c.82 others(183): Show c.8200_*8201insTCTCCCTGTACACACACACTCTCCCTGTACACAC ACACACATGCTCACTCTCTCTGTACACACACGCGCATGCTCACTCTCCTT GTACACACACTCCCTGTACACACACTCCCTGTACACACACACACGCTCAC TCTCCCTGTACACACACATTCTCCCTGTACACACACAC	LRRC3	ENSG00000160233.8	transcript	ENST00000291592.6	protein_coding		3423		chr21	TogoVar
LRRK1_chr15_100914357_101083257	100962821	A A	ACACATAT others(165): Show ACACATATATATATATACATATATATATATATACACATATATATATATAC ATATATATATATACACATATATATATATACATATATATATATATACATAT ATATATATACATATATATATATATACATATATATATATACATATATATAT ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0093 a0001c0011t0016g0093	1	338	0.0030	172	c.98- others(189): Show c.98-10983_98-10982insCACATATATATATATACATATATATATA TATACACATATATATATATACATATATATATATACACATATATATATATA CATATATATATATATACATATATATATATACATATATATATATATACATA TATATATATACATATATATATATATATATATATTTTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
LRRK1_chr15_100914357_101083257	100962821	A A	ACACATAT others(165): Show ACACATATATATATATACATATATATATATATACACATATATATATATAC ATATATATATATATACACATATATATATATACATATATATATATATACAT ATATATATACATATATATATATATACATATATATATATACATATATATAT ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0182 a0001c0013t0182	a0001c0013t0182g0109 a0001c0013t0182g0109	1	338	0.0030	172	c.98- others(189): Show c.98-10983_98-10982insCACATATATATATATACATATATATATA TATACACATATATATATATACATATATATATATATACACATATATATATA TACATATATATATATATACATATATATATACATATATATATATATACATA TATATATATACATATATATATATATATATATATTTTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
LRRK1_chr15_100914357_101083257	100962821	A A	ACACATAT others(165): Show ACACATATATATATATACATATATATATATATACACATATATATATATAC GTATATATATATATACATATATATATATACATATATATATATATACATAT ATATATATACATATATATATATATACATATATATATATACATATATATAT ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0058 a0001c0054t0058	a0001c0054t0058g0013 a0001c0054t0058g0013	1	338	0.0030	172	c.98- others(189): Show c.98-10983_98-10982insCACATATATATATATACATATATATATA TATACACATATATATATATACGTATATATATATATACATATATATATATA CATATATATATATATACATATATATATATACATATATATATATATACATA TATATATATACATATATATATATATATATATATTTTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(165): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(165): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(165): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18940.hp2 NA18979.hp2 others(2): Show HG02074.hp2 NA18940.hp2 NA18979.hp2 NA18990.hp2 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	5	456	0.0110	172	c.-11 others(183): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(165): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1171_-1170insAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(165): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1171_-1170insAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(165): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01175.hp2 others(16): Show HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01993.hp2 HG02148.hp2 HG03688.hp2 HG03927.hp2 NA18942.hp1 NA18954.hp2 NA18976.hp1 NA18983.hp2 NA18995.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	19	456	0.0417	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	456	0.0044	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18944.hp2 HG03490.hp1 HG03492.hp1 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0002g0000 a0002c0002t0005g0000	3	456	0.0066	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA18998.hp2 HG04204.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	456	0.0044	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0002 a0014c0013t0002	a0014c0013t0002g0000 a0014c0013t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712997	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG02257.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	456	0.0044	172	c.-11 others(183): Show c.-1177_-1176insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		934		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712997	C C	CTTCCTTC others(165): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	172	c.-11 others(183): Show c.-1177_-1176insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		934		chr3	TogoVar
MAML3_chr4_139711753_140159184	140104370	A A	ATATATAA others(165): Show ATATATAATATATATATATTATATATTATATAATATATATATTATATATT ATATAATATATATATATTATATATTATATAATATATATATATTATATATT ATATAATATATATATATTATATAATATATAATATATATATTATATATTAT ATAATATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0004 a0004c0022t0004	a0004c0022t0004g0105 a0004c0022t0004g0105	1	152	0.0066	172	c.468 others(191): Show c.468+48489_468+48490insATATATAATATATAATATATTATATA ATATATAATATATATATTATATATTATATAATATATATATATTATATAAT ATATAATATATATATATTATATAATATATAATATATATATATTATATAAT ATATAATATATATATTATATAATATATAATATATATATATTATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(165): Show TATATATACATGCATGTGATGCATATATACATGCATGTGATGCATATATA CATGCATGTGATGCATATATACATGCATGTGATGCATATATACATGCATG TGATGCATATATACATGCATGTGATGCATATATATACATGCATGTGATGC ATATATATACATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0093 a0001c0001t0023g0093	1	102	0.0098	172	c.-38 others(191): Show c.-38-40740_-38-40739insGCATCACATGCATGTATATATATGCA TCACATGCATGTATATATATGCATCACATGCATGTATATATGCATCACAT GCATGTATATATGCATCACATGCATGTATATATGCATCACATGCATGTAT ATATGCATCACATGCATGTATATATGCATCACATGCATGTATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(165): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATGCA TGTGATGCATATATATATGCATGTGATGCATATATATATATGCATGTGAT GCATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	102	0.0098	172	c.-38 others(191): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATATATGCATCACATGCATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(165): Show TATTCATATATATATTCATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	191	0.0052	172	c.343 others(189): Show c.343-4412_343-4411insGAATATATATGAATATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATGAATATATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(165): Show TATTCATATATATATTCATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19009.hp1 NA18952.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0114 a0001c0001t0019g0113 a0001c0001t0001g0114 a0001c0001t0019g0113	2	191	0.0105	172	c.343 others(189): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATGAATATATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111838	A A	ATATATAT others(165): Show ATATATATACGTATATATATACGTATATATACGTATATATATACGTATAT ATACGTATATATATACGTATATATACGTATATATACGTATATATACGTAT ATATACGTATATATACGTATATATATACGTATATATACGTATATATATAC GTATATATACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0298 a0001c0001t0064g0298	1	336	0.0030	172	c.120 others(191): Show c.1209+1037_1209+1038insCGTATATATATACGTATATATACGTA TATATATACGTATATATACGTATATATATACGTATATATACGTATATATA CGTATATATACGTATATATACGTATATATACGTATATATATACGTATATA TACGTATATATATACGTATATATACGTATATATATACGTATATATA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54181993	G G	GGGAGGGA others(165): Show GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGA GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAGGGAAGGAGG GAAGGAAGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	373	0.0027	172	c.494 others(187): Show c.494-861_494-860insTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181993	G G	GGGAGGGA others(165): Show GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGA GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAGGGAAGGAGG GAAGGAAGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	373	0.0027	172	c.494 others(187): Show c.494-861_494-860insTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181993	G G	GGGAGGGA others(165): Show GGGAGGGAAGGAGGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGA GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAGGGAAGGAGG GAAGGAAGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	373	0.0027	172	c.494 others(187): Show c.494-861_494-860insTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(165): Show AATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATAT ATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATA TATAGTCTATATATATATAGACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02486.hp1 others(2): Show HG02257.hp1 HG02258.hp1 HG02486.hp1 HG03098.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0095 a0001c0001t0121 others(1): Show a0001c0001t0018 a0001c0001t0095 a0001c0001t0121 a0001c0001t0132	a0001c0001t0018g0025 a0001c0001t0018g0026 a0001c0001t0095g0022 others(2): Show a0001c0001t0018g0025 a0001c0001t0018g0026 a0001c0001t0095g0022 a0001c0001t0121g0023 a0001c0001t0132g0093	5	186	0.0269	172	c.-56 others(191): Show c.-56-60532_-56-60531insAGTCTATATATATATAGACTATATAT ATATAGACTATATATATAGACTATATATATATAGACTATATATATATAGA CTATATATATATAGACTATATATATAGACTATATATATATAGACTATATA TATAGACTATATATATAGACTATATATATATAGTCTATATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(165): Show AATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATAT ATATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGT CTATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATA TATATAGTCTATATATATAGACT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03492.hp1 HG01346.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0133 a0001c0001t0130 a0001c0001t0133	a0001c0001t0130g0036 a0001c0001t0133g0034 a0001c0001t0130g0036 a0001c0001t0133g0034	2	186	0.0108	172	c.-56 others(191): Show c.-56-60532_-56-60531insAGTCTATATATATAGACTATATATAT ATAGACTATATATATAGACTATATATATATAGACTATATATATATAGACT ATATATATATAGACTATATATATAGACTATATATATATAGACTATATATA TATAGACTATATATATAGACTATATATATATAGTCTATATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110297	T T	TATATATA others(165): Show TATATATATATAGTCTATATATATATAGTCTATATATATAGACTATATAT ATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATATA GTCTATATATATATAGTCTATATATATATAGACTATATATATATAGACTA TATATATAGACTATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0186 a0001c0001t0151g0186	1	186	0.0054	172	c.-56 others(191): Show c.-56-60575_-56-60574insTATATATATATAGTCTATATATATAG TCTATATATATATAGTCTATATATATATAGACTATATATATATAGACTAT ATATATATAGACTATATATATATAGACTATATATATATAGACTATATATA TATAGTCTATATATATAGACTATATATATATAGACTATATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(165): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTT TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	181	0.0055	172	c.107 others(191): Show c.1074-5181_1074-5180insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIOX_chr22_50481859_50495648	50488407	T T	TGGTGCTT others(165): Show TGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCA CGGCCCCCCGACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTG GGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCGACGG CTGCCTGTCCCTCTGGTGGCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03486.hp2 NA19240.hp2 HG02109.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0022 a0001c0004t0004g0022	3	436	0.0069	172	c.408 others(187): Show c.408+209_408+210insGACGGCTGCCTGTCCCTCTGGTGGCCTCGG TGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGG CCCCCCGACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGA TACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MLPH_chr2_237482251_237560322	237543422	G G	GGGCATGG others(165): Show GGGCATGGTAGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTTGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0026 a0020c0018t0001g0027 a0020c0018t0001g0026 a0020c0018t0001g0027	2	286	0.0070	172	c.153 others(189): Show c.1539+765_1539+766insCATGGTAGTGAGTGGGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTTGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTTGGGACAGTGG TGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP26_chr11_4699784_4997429	4734757	T T	TTCTATAT others(165): Show TTCTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATATTTATA TAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATATTTATATAAGCAG GGCATAGGCAGAATAGCATCGCATAGCATATTTATATAAGCAGGGCATAG GCAGAATAGCATCGCATAGCATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 HG01516.hp1 others(4): Show HG01099.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG02738.hp1 HG03710.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0199 a0001c0001t0002g0004 a0001c0001t0003g0193 a0001c0001t0003g0197	7	206	0.0340	172	c.-21 others(193): Show c.-217+29713_-217+29714insCTATATAAGCAGGGCATAGGCAGA ATAGCATCGCATAGCATATTTATATAAGCAGGGCATAGGCAGAATAGCAT CGCATAGCATATTTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAG CATATTTATATAAGCAGGGCATAGGCAGAATAGCATCGCATAGCATAT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MPG_chr16_73225_90846	82089	G G	GCCCCTTC others(165): Show GCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC CACGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAA TGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAACCTCCGGGAAGGC CTCCTGAATGCTCCCCGCGCTGA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	442	0.0023	172	c.301 others(187): Show c.301-937_301-936insAGGAAGCCCTCCTGAATGCTCCCCACGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCC CACACTGACCCCTTCTTCCCACCACCCTAACCTCCGGGAAGGCCTCCTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(165): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCACCCA CCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACCCATC CATCCACCCACCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	172	c.30 others(183): Show c.3029_*3030insATGGATGGGTGGGTGGGTGGATGGATGGGTGGGT GGATGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTGGGTGG GTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGGT GGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar

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