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
ISYNA1_chr19_18429388_18443133	18442090	A A	ACACCCCA others(421): Show ACACCCCACCCCCACACACCACCCAACACCACCACCCCACACACCCCCCA CACCACACACCACCCCCACACCCACCACCCACACCCACCACCCACCCCAC ACCACCCCACCCCCCCACCCACCCACCCCACACACCACCACCCCCACACC CCCACCCCACACCACCACACCCCACCCACACACCCACCCACCCCACCACA CCCCACACCCACCACACCCACACCCCAACACACCCCACACCACACACCCA CCACCACCCACACCCACCCCAACACACACCAACACACCACCACACCCCAC ACCCCCACCCCACACACACCCACACCACATCCCCACCACACCACACACCC CACCACACCCCAACCACACACCCCACCACCACCCCACCCACATACCACCC CACAACACCACACCTCACCACACCACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	308	0.0033	428	c.-40 others(439): Show c.-4008_-4007insGGGGTGGTGTGGTGAGGTGTGGTGTTGTGGGGTG GTATGTGGGTGGGGTGGTGGTGGGGTGTGTGGTTGGGGTGTGGTGGGGTG TGTGGTGTGGTGGGGATGTGGTGTGGGTGTGTGTGGGGTGGGGGTGTGGG GTGTGGTGGTGTGTTGGTGTGTGTTGGGGTGGGTGTGGGTGGTGGTGGGT GTGTGGTGTGGGGTGTGTTGGGGTGTGGGTGTGGTGGGTGTGGGGTGTGG TGGGGTGGGTGGGTGTGTGGGTGGGGTGTGGTGGTGTGGGGTGGGGGTGT GGGGGTGGTGGTGTGTGGGGTGGGTGGGTGGGGGGGTGGGGTGGTGTGGG GTGGGTGGTGGGTGTGGGTGGTGGGTGTGGGGGTGGTGTGTGGTGTGGGG GGTGTGTGGGGTGGTGGTGTTGGGTGGTGTGTGGGGGTGGGGTG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		3958		chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173137	C C	CCCCTCCC others(421): Show CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCTCTCTCTCC CCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCCCCC TCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTC TCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTC TCCTCCTCCTTCCCCCTGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0014 a0002c0016t0014	a0002c0016t0014g0143 a0002c0016t0014g0143	1	158	0.0063	428	c.11 others(449): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTC TCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCT CCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCT CCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCCCC CCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCC CTCCTTCCCTCTCTCTCTCTCCTCCTCCTTCCCCCTGTCTCTCTCTCTCC CTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(421): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATTATATATAAAATATATAATATATATAAAATATATACTATATAT AAAATATATAATATATATAAAATATATACTATATATAAAATATATACTAT ATATAAAATATATACTATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0215 a0001c0001t0058g0215	1	260	0.0039	428	c.963 others(447): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATTATATATAAAATATATAATATATAT AAAATATATACTATATATAAAATATATAATATATATAAAATATATACTAT ATATAAAATATATACTATATATAAAATATATACTATATATAAAATATATA CTATATATAAAATATATATTATATATAAAATATATACTATATATAAAATA TA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(421): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATTATATATTAAATATATATTATATATATAAAATATATATAAAATA TATATTATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATTATATATAAAATATATAATATATAT AAAATATATACTATATATAAAATATATAATATATATAAAATATATACTAT ATATAAAATATATACTATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20805.hp1 NA20905.hp2 HG04115.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0032 a0001c0001t0015g0018 a0001c0001t0015g0089 a0001c0001t0012g0032 a0001c0001t0015g0018 a0001c0001t0015g0089	3	260	0.0115	428	c.963 others(447): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATTATATATTAAATATATATTATATATA TAAAATATATATAAAATATATATTATATAAAATATATATAAAATATATAT TATATAAAATATATATAAAATATATATTATATAAAATATATATTATATAT AAAATATATAATATATATAAAATATATACTATATATAAAATATATAATAT ATATAAAATATATACTATATATAAAATATATACTATATATAAAATATATA CTATATATAAAATATATATTATATATAAAATATATACTATATATAAAATA TA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(421): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA TATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	232	0.0043	428	c.-67 others(447): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATGTACACACAAGAGG ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(421): Show TCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACACA AGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAG AGGATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	232	0.0043	428	c.-67 others(447): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGA GGATATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGA GG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(421): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACATATACACACATACACCCATACACACAC ATCATACACACACACACCACACACATACACCACACACACCACACATGCAC ACACACCACACACATATATACGCATACACCCATACACACATCATACACAC ACACACCACACACACCACACATGCACACCACACACATACACGCATACACC CATACACACACATCATACACACACACACCACACACATATACGCATACACC CATACACACACATCATACACACACATACACCACACACACCACACACGCAC ACCACACACATATACACACATACACCCATGCACACACATCATACACACAC AAACCACACATACCACACACATACACCAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	2	400	0.0050	428	c.-39 others(445): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTG TGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTG TGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGA TGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTGTGTAT GGGTGTGTGCGTATATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(421): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGAGGGAGGAGGGGAGGGGGAGGGGGTCA GGGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGG AAGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAG AGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	316	0.0032	428	c.583 others(443): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTC CTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCT GACCCCCTCCCCCTCCCCTCCTCCCTCTCTCCTTCCCCTCTTCCCTCTCC TCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(421): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAG AGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	316	0.0032	428	c.583 others(443): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCC CTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCC TCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(421): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGAGGAGGAGGAAG AGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19080.hp2 NA18954.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0146 a0001c0001t0001g0181	2	316	0.0063	428	c.583 others(443): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCC TCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCT CCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCT TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCT TCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCC CTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCC TCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(421): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAG GAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAG AGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	316	0.0032	428	c.583 others(443): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCC TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCT TCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCC CTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCC TCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(421): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAG GAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAG AGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	316	0.0032	428	c.583 others(443): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCC TCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LINGO2_chr9_27932617_29218601	28189641	A A	AAGGAAGG others(421): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0005 a0001c0001t0036	a0001c0001t0005g0059 a0001c0001t0036g0062 a0001c0001t0005g0059 a0001c0001t0036g0062	2	62	0.0323	428	c.-36 others(449): Show c.-36+105566_-36+105567insCCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT TCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28189641	A A	AAGGAAGG others(421): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0037 a0001c0001t0023g0037	1	62	0.0161	428	c.-36 others(449): Show c.-36+105566_-36+105567insCCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT TCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(421): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAATATATAATA TATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00735.hp1 others(29): Show HG00280.hp2 HG00544.hp2 HG00735.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG03239.hp2 HG03704.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18965.hp1 NA18975.hp1 NA18983.hp2 NA19003.hp1 NA19007.hp2 NA19057.hp2 NA19070.hp1 NA20300.hp1	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0007c0009 a0012c0015 a0001c0001 a0007c0009 a0012c0015	a0001c0001t0001 a0007c0009t0001 a0012c0015t0001 a0001c0001t0001 a0007c0009t0001 a0012c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0131 a0007c0009t0001g0013 a0012c0015t0001g0002	32	316	0.1013	428	c.622 others(443): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(421): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATTAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAATATATAATA TATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04199.hp1 HG03704.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	316	0.0063	428	c.622 others(443): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATTATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LYRM7_chr5_131165944_131210428	131181418	T T	TATATATA others(421): Show TATATATATATATGTATATATATATATATATATACATATATATATATATA TATATATATATATATATATATATGTATATATATATATATATACATGTATA TATGTATATATATATATACATGTATATATATATATATATACATATATATA TATACATGTATATATGTATATATATATATATATATATGTATATATATATA TATACATGTATATATATATATACATATATATATATATATATATATATGTA TATATAATATATATGTATATATATATATGTATAATATATATGTATATATA TGTATATATAATATATATATATATAATATATATATATATATATATATTAT AATATATATATAATATATGTATAATATATATGTATATATAATATATATGT ATATATTATATATATACATATATATGTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0132 a0001c0001t0024g0132	1	300	0.0033	428	c.92- others(441): Show c.92-800_92-799insTGTATATATATATATATATATACATATATATA TATATATATATATATATATATATATATATGTATATATATATATATATACA TGTATATATGTATATATATATATACATGTATATATATATATATATACATA TATATATATACATGTATATATGTATATATATATATATATATATGTATATA TATATATATACATGTATATATATATATACATATATATATATATATATATA TATGTATATATAATATATATGTATATATATATATGTATAATATATATGTA TATATATGTATATATAATATATATATATATAATATATATATATATATATA TATTATAATATATATATAATATATGTATAATATATATGTATATATAATAT ATATGTATATATTATATATATACATATATATGTTAATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(421): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGGGGGAGGGGAGAGGG GAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	104	0.0096	428	c.313 others(449): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCTTC CTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCC TTCTCCCCTCCCCTCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCT CCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTGTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCC TCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCCTCC CCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTCCCC TCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(421): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGGCACCTCCTCAGCATGGGCTCCTGGCGA GTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCCTCCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAG TGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCCCCCGCGCCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0098 a0098	a0098c0049 a0098c0049	a0098c0049t0001 a0098c0049t0001	a0098c0049t0001g0162 a0098c0049t0001g0162	1	292	0.0034	428	c.218 others(443): Show c.2189-97_2189-96insAGGCGCGGGGGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACAC TCGCCAGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCAT GTGAGGGAGGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGCTGAGGAGGTGCCGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(421): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	390	0.0026	428	c.112 others(445): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(421): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	428	c.18 others(439): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTG AGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATCTC GGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTAATT TTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGATGGT CTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATATATA TTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGGGCA ATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGCCTC CCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRTFA_chr22_40405289_40641719	40537575	T T	TGTCCGGG others(421): Show TGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGG GGTCAGTCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGTCCCCCGCCTGGCCAGCCGTGCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	256	0.0039	428	c.241 others(447): Show c.241+14530_241+14531insGGCACGGCTGGCCAGGCGGGGGACTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTG ACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGG AC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537575	T T	TGTCCGGG others(421): Show TGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGG GGTCAGTCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGTCCCCCGCCTGGCCAGCCGTGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	256	0.0039	428	c.241 others(447): Show c.241+14530_241+14531insGGCACGGCTGGCCAGGCGGGGGACTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTG ACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG AC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATACAT others(421): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATATAA AATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATATT TTATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATA TAAAATCTTTATATATATTTTATATATATAAAATCTTTATATATATTTTA TATATATAAAATCTTTATATATATTTTATATATATAAAATCTTACTTTAT ATATATTTTATATATATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	330	0.0030	428	c.-5+ others(443): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAGATTTTAT ATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATAAA ATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTT TATATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATAT AAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTA TATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAA TAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(421): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAA CTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATT CTTCAAGAACATATAACTACTGTAAATATATATATTATATATATATAAAA CCAAAACCAGAAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTT GGTTTTTTATATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTA TATATATATTTATATAAATATAAATATATAAATATATATAATTATATATA TATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00642.hp1 others(32): Show HG00280.hp1 HG00423.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01433.hp2 HG01891.hp2 HG01978.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02698.hp2 HG03017.hp2 HG04115.hp1 HG04184.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18969.hp1 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19064.hp1 NA19065.hp1 NA19085.hp2 NA19088.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027	a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0061 others(32): Show a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0134 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0281 a0001c0001t0002g0299 a0001c0001t0003g0156 a0001c0001t0015g0095 a0001c0001t0018g0108 a0001c0001t0027g0101	35	312	0.1122	428	c.293 others(447): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATTTA GCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATG AGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAAC ATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAG AAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTAT ATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATT TATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGTC CTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTG GT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(421): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0149 a0003c0003t0001g0149	1	364	0.0028	428	c.394 others(443): Show c.394-735_394-734insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588927	A A	ACATATAT others(421): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0206 a0002c0014t0001g0206	1	364	0.0028	428	c.394 others(443): Show c.394-707_394-706insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYL2_chr12_110905845_110925579	110905890	A A	ATTATATA others(421): Show ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATTATATAATATATATTATATATAAT ATATATTATATTATATAATATATATTATATATAATATATATTATATATAA TATAATATATATTATATATAATATATATTATATAATATAATATATATTAT ATATAATATATATTATATTATATATAATATATATTATATATAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATTATATATAAAATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	368	0.0027	428	c.51 others(439): Show c.5186_*5187insATATTATATAATATAATATATATTTTATATAATA TATATTATATATAATATAATATATATTTTATATAATATATATTATATATA ATATAATATATATTTTATATAATATATTTTATATATAATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA TATTATATATAATATATATTATATATAATATAATATATATTATATATAAT ATATATTATATTATATAATATATATTATATATAATATATATTATATTATA TATAATATATATTATATATAATATATATTATATAATATAATATATATTAT ATATAATATATATTATATAATATAATATATATTATATATAATATATATTA TATATAATATATATTATATATAATATAATATATATTATATATAA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4954		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(421): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGT GACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0212 a0001c0001t0044g0212	1	384	0.0026	428	c.160 others(445): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(421): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGCGGCGATGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18979.hp2 NA18956.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0068 a0001c0001t0003g0071	2	384	0.0052	428	c.160 others(445): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCGCCACCACCACCACCACCACCATCGCCGCCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(421): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGCGGCGATGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19056.hp2 NA18939.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0226 a0001c0001t0003g0070 a0001c0001t0002g0226 a0001c0001t0003g0070	2	384	0.0052	428	c.160 others(445): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCGCCACCACCACCACCACCACCATCGCCGCCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCT others(421): Show GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	378	0.0027	428	c.148 others(447): Show c.1480-2580_1480-2579insTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGGGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(421): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATAAATATATATATAATATATAATATATATTATATATAAATATATAAT ATATAATATATATTATATTATATATTAATAATATGTAAATATATATTATA TATATTATATAATATATAATATATTATATATATTATATAATATATTATAT ATAATATAATATATAATATATTATATAATATATTATATATTATATAATAT ATTATATATAATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0159 a0002c0003t0015g0159	1	348	0.0029	428	c.48+ others(443): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATAAATATATATATAATATATAATATATAT TATATATAAATATATAATATATAATATATATTATATTATATATTAATAAT ATGTAAATATATATTATATATATTATATAATATATAATATATTATATATA TTATATAATATATTATATATAATATAATATATAATATATTATATAATATA TTATATATTATATAATATATTATATATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(421): Show GATGGTGGGCGTGATGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGT GGGCATGATGATGATGGGCGTGATGATGATGGGGGGTGATGATGGGCATG ATGATGGGCGTGATGATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGAT GATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGAT GGGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGATG ATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGATGATGGGGGTGGGGGG GGTGGGCCTGATGGGGGTGTGGGCATGATGATGATGGGCGTGATGATGAT GGGGGGTGATGATGGGCATGATGATGGGCGTGATGATAGGGGTGATGGTG GGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0108 a0001c0002t0108	a0001c0002t0108g0081 a0001c0002t0108g0081	1	355	0.0028	428	c.10 others(437): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCTATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCCCA CCCCCATCATCACGCCCACCATCACCCCCACCATCACCCCTATCATCACG CCCATCATCATGCCCATCATCACCCCCCATCATCATCACGCCCATCATCA TCATGCCCACACCCCCATCAGGCCCACCCCCCCCACCCCCATCATCACGC CCACCATCACCCCCACCATCACCCCTATCATCACGCCCATCATCATGCCC ATCATCACCCCCCATCATCATCACGCCCATCATCATCATGCCCACACCCC CATCAGGCCCACCCCCCCCACCCCCATCATCACGCCCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(421): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGG ATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGG GGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGA GGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGG GGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGG AGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG03130.hp2 others(1): Show HG02559.hp2 HG02809.hp2 HG03130.hp2 NA18906.hp1	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0003 a0001c0016 a0004c0015 others(1): Show a0001c0003 a0001c0016 a0004c0015 a0014c0029	a0001c0003t0069 a0001c0016t0106 a0004c0015t0036 others(1): Show a0001c0003t0069 a0001c0016t0106 a0004c0015t0036 a0014c0029t0036	a0001c0003t0069g0012 a0001c0016t0106g0011 a0004c0015t0036g0013 others(1): Show a0001c0003t0069g0012 a0001c0016t0106g0011 a0004c0015t0036g0013 a0014c0029t0036g0313	4	344	0.0116	428	c.154 others(445): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCA TCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCC CCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(421): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGG GGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGA TGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGG GGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAG GGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAA GAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG06807.hp1 HG03041.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0074 a0001c0001t0078 a0001c0001t0039 a0001c0001t0074 a0001c0001t0078	a0001c0001t0039g0177 a0001c0001t0074g0176 a0001c0001t0078g0175 a0001c0001t0039g0177 a0001c0001t0074g0176 a0001c0001t0078g0175	3	344	0.0087	428	c.154 others(445): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(421): Show GGGGAGGGGGGAGGAGGGGGGGAGGGGAGGGGGAGGGAGGGGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGG GGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGA TGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGG GGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAG GGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAA GAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0168 a0001c0001t0023g0172 a0001c0001t0023g0168 a0001c0001t0023g0172	2	344	0.0058	428	c.154 others(445): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCCCCCTCCCTCCCCCTCCCCTCCCCCCCTCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(421): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	326	0.0031	428	c.433 others(445): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGAAGGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841445	C C	CCCCCGAC others(421): Show CCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCACG GAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCACCCTGACCACAGAGCATCTCACACGGG CGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCC ACCCTGACCACAGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	242	0.0041	428	c.361 others(447): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCAG GGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGC TCGCCCGTGTGAGATGCTCTGTGGTCAGGGTGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGT GGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCTCTGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CTCCGTGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGG GG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841585	C C	CGGGCGAG others(421): Show CGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACAGGCAG GTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGAGCATCTCACACCCACGGGCAGGTCCCCCCTGACCACGGAGCATC TCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	242	0.0041	428	c.361 others(447): Show c.361-15508_361-15507insATGTGAGATGCGCCGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCCCGTGGGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCCTGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237632	A A	ATACTATA others(421): Show ATACTATATATACTATACATACTATATAGTATATATAGTATATATACTAT TTATACTATAGTATATATAGTATATATACTATATATAGTATATATAGTAT ATATACTATATATACTATAGTATATATAGTATATATACTATATGTAATAT AGTATATATAGTATATATACTATATGTAATATAGTATATATAGTATATAT ACTATATGTAATATAGTATATATAGTATATATACTATATGTAATATAGTA TATATAGTATATATATATACTACTATATATATAATAGTATATATAGGATA TATATATACTACTATATATAGTATATATAGTAGATATACTATATATACTA TATAGTATATATAGTATATCTACTATATAGTACATATAGTATATACAGTA TATCTACTATATAGTATATATACTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	439	0.0023	428	c.-17 others(439): Show c.-1711_-1710insTACTATATATACTATACATACTATATAGTATATA TAGTATATATACTATTTATACTATAGTATATATAGTATATATACTATATA TAGTATATATAGTATATATACTATATATACTATAGTATATATAGTATATA TACTATATGTAATATAGTATATATAGTATATATACTATATGTAATATAGT ATATATAGTATATATACTATATGTAATATAGTATATATAGTATATATACT ATATGTAATATAGTATATATAGTATATATATATACTACTATATATATAAT AGTATATATAGGATATATATATACTACTATATATAGTATATATAGTAGAT ATACTATATATACTATATAGTATATATAGTATATCTACTATATAGTACAT ATAGTATATACAGTATATCTACTATATAGTATATATACTATATC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1653		chr14	TogoVar
P2RY8_chrX_1457581_1542185	1514627	T T	TCCCTTCC others(421): Show TCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCCCCTTCCTCCCCT CCTTTCCCTTCCCTTCCCTTCCTTTCCTTCCCTTCCTTCCCTTCCCTTCC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTC CCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCCCCTCCTTTC CCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCT TCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCTTCCC TTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCCCCTCCTTTCC CTTCCCTTCCCTTCCCTTCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03195.hp2 others(2): Show HG01884.hp2 HG02723.hp2 HG03195.hp2 HG03209.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0006 a0001c0003t0003 a0001c0003t0005 others(2): Show a0001c0001t0006 a0001c0003t0003 a0001c0003t0005 a0002c0002t0009 a0002c0002t0027	a0001c0001t0006g0029 a0001c0003t0003g0030 a0001c0003t0005g0031 others(2): Show a0001c0001t0006g0029 a0001c0003t0003g0030 a0001c0003t0005g0031 a0002c0002t0009g0006 a0002c0002t0027g0100	5	114	0.0439	428	c.-25 others(447): Show c.-25+22293_-25+22294insGGAAGGGAAGGAAGGGAAGGGAAGGG AAGGGAAAGGAGGGGAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGG AAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGG GAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAG GGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGA AGGGAAAGGAGGGGAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGA AGGGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGG AAGGGAAGGGAAGGGAAGGAAGGGAAGGAAAGGAAGGGAAGGGAAGGGAA AGGAGGGGAGGAAGGGGAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAG GG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(421): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATG GTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAG TGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGA AGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGT GATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0258	1	380	0.0026	428	c.255 others(447): Show c.2556+1616_2556+1617insTCACCACCACCTTCACCACTCACTGT CGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCA CCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCAC TCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCAT CA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(421): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	428	c.-26 others(439): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PERM1_chr1_970198_987093	977476	C C	CAACCCCG others(421): Show CAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGA ACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0223 a0002c0005t0005g0223	1	408	0.0025	428	c.215 others(445): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGAT TGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAGGCGG TTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGTCGGTGGG GGCAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CAACCCCG others(421): Show CAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGA ACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0019 a0003c0003t0005g0019	1	422	0.0024	428	c.29 others(439): Show c.2901_*2902insAACCCCGGGAACCGCCTGCCCCCACCGACCAACC CCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGA CCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(421): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGAT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGT GATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGA TGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	374	0.0027	428	c.-46 others(439): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(421): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGAT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGT GATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGA TGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	374	0.0027	428	c.-46 others(439): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(421): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	374	0.0027	428	c.-46 others(439): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392594	G G	GTGGTGGT others(421): Show GTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGT GATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGA TGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGT GATGGGGGTGGTGGTAATGATGATGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	374	0.0027	428	c.-46 others(439): Show c.-4633_-4632insTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGATGATGGTGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA TGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTG GTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4605		chr10	TogoVar

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