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
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(411): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp2 HG02074.hp2 others(13): Show HG00438.hp1 HG01192.hp2 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02970.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18952.hp2 NA18992.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0161 a0001c0001t0004g0164 others(13): Show a0001c0001t0004g0005 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0182 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212	16	117	0.1368	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074166	A A	ATAAATAT others(411): Show ATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATAT ATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATAC ATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTAT TCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATAT ACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTT ATTCATATATAAATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	204	0.0049	418	c.-97 others(435): Show c.-97-2331_-97-2330insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATGTAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074265	C C	CACATATA others(411): Show CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCACATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCACATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATTTACATATAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0012 a0001c0002t0007g0012	1	131	0.0076	418	c.-97 others(435): Show c.-97-2259_-97-2258insCATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCACATATAAATATATATAAATATACA TGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATTTACATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(411): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATT TATATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATA TATAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATA ACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATA TAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATT TATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	85	0.0118	418	c.-97 others(435): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA TATATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGT TATTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATA TATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATA AATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATA TAGATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK5_chr10_119202571_119464745	119394232	G G	GTGTGTGG others(411): Show GTGTGTGGGTGTCTGTGTGGGTGTATCTGTGTGTGTGGGCACGTGTGTGT GTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGCGTGTGTGTGT GTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTGTGT ATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGGTAT CTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATGGG TGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGGGTGT GGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTGTGA GTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGT GGCTATGTGGATGTGTGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG01109.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0049 a0002c0003t0050 a0001c0001t0049 a0002c0003t0050	a0001c0001t0049g0123 a0002c0003t0050g0128 a0001c0001t0049g0123 a0002c0003t0050g0128	2	190	0.0105	418	c.262 others(435): Show c.262-2445_262-2444insGGTGTATCTGTGTGTGTGGGCACGTGTG TGTGTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGCGTGTGTG TGTGTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTG TGTATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGG TATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTAT GGGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGGG TGTGGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTG TGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTG TGTGGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(411): Show ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATATTATATAATATATATTAT ATTATATATAATATATTTTATATATTATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATAATATATATTATATTATATATAATATATTTTA TATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	278	0.0036	418	c.661 others(435): Show c.661+7305_661+7306insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATATAATATAATATATAT TATATATTATATAAAATATATTATATATAATATAATATATATTATATATT ATATAAAATATATTATATATAATATAATATATATTATATATTATATAAAA TATATTATATATAATATAATATATATTATATATTATATAAAATATATTAT ATATAATATAATATATATTATATATTATATAAAATATATTATATATAATA TAATATATATTATATAATATATAAAATATATTATATATAATATAATATAT ATTATATAATATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775180	G G	GGAGGGAG others(411): Show GGAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGGGCAGGG GGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGAGGGGCAGGAGGAGGGGCAGGGAGGAGGGGCAGG GGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGAGACAGGGAGGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	200	0.0050	418	c.978 others(435): Show c.978-2490_978-2489insAGGGAGGAGGGGGGGCAGGGAGGAGGGA CGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGAGGGGCAGGAGGAG GGGCAGGGAGGAGGGGCAGGGGGAGGAGAGACAGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGACAGGG AGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5E_chr9_136423619_136444845	136431599	C C	CCCCCCCA others(411): Show CCCCCCCAGGCCCTCACCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCA GGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCA CCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCT CATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCGCCACGCC CGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCC CAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCT CACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCC TCATCTCCCTCCACGCCCG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	313	0.0032	418	c.154 others(435): Show c.1549+224_1549+225insCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGG GGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGG GCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGCGGGCGTGGCG GGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGA GGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGT GAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAGAGGTGAGGGCCT GGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGC GGGCGTGGCGGGAGATGAGGAGAGGTGAGGGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(411): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0174	1	233	0.0043	418	c.127 others(437): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
ITGA11_chr15_68291532_68437163	68400885	A A	AAATATTA others(411): Show AAATATTATATTATATATTATATAATAAATATTATATTATATATTATATA ATAAATATTATATTATATATTATATAATAAATATTATATTATATATTATA TAATAAATATTATATTATATATTATATAATAAATATTATATTATATATTA TATAATAAATATTATATTATATATTATATAATAAATATATTATATATTAT ATAATAAATATTATATTATATATTATATAATAAATATTATATTATATATT ATATAATAAATATTATAATATTATATATTATATAATAAATATTATAATAT TATATATTATATAATAAATATTATAATATTATATATTATATAATAAATAT TATATTATATATTATATAATAAATATTATATTATATATTATATAATAAAT ATTATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0075 a0004c0075	a0004c0075t0016 a0004c0075t0016	a0004c0075t0016g0016 a0004c0075t0016g0016	1	235	0.0043	418	c.164 others(435): Show c.164+2032_164+2033insATATATTATATAATATAATATTTATTAT ATAATATATAATATAATATTTATTATATAATATATAATATAATATTTATT ATATAATATATAATATTATAATATTTATTATATAATATATAATATTATAA TATTTATTATATAATATATAATATTATAATATTTATTATATAATATATAA TATAATATTTATTATATAATATATAATATAATATTTATTATATAATATAT AATATATTTATTATATAATATATAATATAATATTTATTATATAATATATA ATATAATATTTATTATATAATATATAATATAATATTTATTATATAATATA TAATATAATATTTATTATATAATATATAATATAATATTTATTATATAATA TATAATATAATATTTATTATATAATATATAATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGC TCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCC CCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCC TCCACACGTGTAGCTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0281 a0006c0023t0001g0281	1	11	0.0909	418	c.117 others(439): Show c.1170-14170_1170-14169insGGAGAGCTACACGTGTGGAGGGGG ACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTG GGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGC TCTCACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0186 a0002c0002t0006g0186	1	11	0.0909	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAG CTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0010 a0003c0019 a0002c0010 a0003c0019	a0002c0010t0057 a0003c0019t0068 a0002c0010t0057 a0003c0019t0068	a0002c0010t0057g0099 a0003c0019t0068g0137 a0002c0010t0057g0099 a0003c0019t0068g0137	2	12	0.1667	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAG CTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0174 a0002c0002t0006g0174	1	11	0.0909	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCC ACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAG CTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0007 a0001c0003t0050g0007	1	11	0.0909	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGG GGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGG GTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(411): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATCTATATATATCCAAGAGGATATATATATCTATATA TATCCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATATC TATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	63	0.0159	418	c.-67 others(437): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATAT CTATATATATCCAAGAGGATATATATATCTATATATATCCAAGAGGATAT ATATATCTATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(411): Show CCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACC ACTCACCCGAAAGATCCCTCTCCACCCTCCAACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTC CACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCAT CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCC TCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCG CCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCA CCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0074 a0001c0001t0016g0074	1	341	0.0029	418	c.64+ others(435): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCT CAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGG GTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGAT CTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGTTGGAGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGC GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997285	G G	GGGGCGGG others(411): Show GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	351	0.0028	418	c.-21 others(429): Show c.-2184_-2183insGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCT GCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		385		chr6	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(411): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGGG AGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGAGGAGGGG GAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	5	0.2000	418	c.583 others(433): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTCTCCTCCTCCTCTT ATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCC ACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCC TCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCC ACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCC TCCCCCTCCCCTCCTCCCTCTCCTTCCCTCTTCCCTCTCCTCCCCTTCCT CCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(411): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGCAGGAGGAGGGGGGGAGGGGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	5	0.2000	418	c.583 others(433): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCTCCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCATTTTCTCCTCCTCCTCTTA TTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCA CTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCCT CCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCCA CTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCCT CCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCCT CCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124507062	A A	AGGGGTAG others(411): Show AGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	132	0.0076	418	c.624 others(435): Show c.624+8955_624+8956insCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953632	C C	CTCCTGCA others(411): Show CTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACATGTC CACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACC CACCCCACACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCA GCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACA TCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACA CCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCACAC CAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCA CATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACATCCACACAGA CACAGACCCGAAACCAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01934.hp2 others(1): Show HG00140.hp1 HG00323.hp2 HG01934.hp2 HG03516.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0009c0024 a0001c0005 a0009c0024	a0001c0005t0001 a0001c0005t0012 a0009c0024t0001 a0001c0005t0001 a0001c0005t0012 a0009c0024t0001	a0001c0005t0001g0109 a0001c0005t0001g0115 a0001c0005t0012g0110 others(1): Show a0001c0005t0001g0109 a0001c0005t0001g0115 a0001c0005t0012g0110 a0009c0024t0001g0117	4	274	0.0146	418	c.503 others(433): Show c.503+724_503+725insAGCTGGTTTCGGGTCTGTGTCTGTGTGGAT GTGCAGGAGGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCT GGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGG GTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGG ACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGG CTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGT CCGTGTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGT GGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGA AGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953959	A A	AACCAGCC others(411): Show AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACAC AGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACTC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCT TCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCC ACACAGACACCCACCCCAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	222	0.0045	418	c.503 others(433): Show c.503+397_503+398insGTGGGGTGGGTGTCTGTGTGGACATGTAGG AAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCG GGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTA GGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTT GGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTC TGTGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATG TAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(411): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACATACA TACACACATAGCACACACACTGCAGCACACACGAGATACACACCACACCA TACAACACACCACACACACCACACAGGACATGTACACCACACACACAACC AACACACATCACATGCACACACACATACACACACCACACATACTATACCA CATACACATGCAGTACACACACCACACCACACACACACCACAGACACAGA TACCACACACACTGCAGCACACACAAGACACACACCACACCATGTAACAC ACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0001 a0017c0062t0001	a0017c0062t0001g0250 a0017c0062t0001g0250	1	125	0.0080	418	c.742 others(435): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACATACATACACACATAGCACACACACTGCAGCACACACG AGATACACACCACACCATACAACACACCACACACACCACACAGGACATGT ACACCACACACACAACCAACACACATCACATGCACACACACATACACACA CCACACATACTATACCACATACACATGCAGTACACACACCACACCACACA CACACCACAGACACAGATACCACACACACTGCAGCACACACAAGACACAC ACCACACCATGTAACACACCACACACACACCACGCAACAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(411): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CATAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAT AAAAATATTATAATATATAATAATATATATTATAATATATATAATATATA TAATATATTATAATATATATTATATATAGTATAATATATATATTATAATT TATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0070 a0009c0070	a0009c0070t0001 a0009c0070t0001	a0009c0070t0001g0032 a0009c0070t0001g0032	1	66	0.0152	418	c.299 others(439): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACATAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATATAAAAATATTATAATATATAATAATATA TATTATAATATATATAATATATATAATATATTATAATATATATTATATAT AGTATAATATATATATTATAATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(411): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAT AAAAATATTATAATATATAATAATATATATTATAATATATATAATATATA TAATATATTATAATATATATTATATATAGTATAATATATATATTATAATT CATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0014 a0044 a0014 a0044	a0014c0012 a0044c0074 a0014c0012 a0044c0074	a0014c0012t0001 a0044c0074t0001 a0014c0012t0001 a0044c0074t0001	a0014c0012t0001g0138 a0044c0074t0001g0140 a0014c0012t0001g0138 a0044c0074t0001g0140	2	67	0.0299	418	c.299 others(439): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATATAAAAATATTATAATATATAATAATATA TATTATAATATATATAATATATATAATATATTATAATATATATTATATAT AGTATAATATATATATTATAATTCATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(411): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAT AAAAATATTATAATATATAATAATATATATTATAATATATATAATATATA TAATATATTATAATATATATTATATATAGTATAATATATATATTATAATT TATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01074.hp1 others(46): Show HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03579.hp1 HG03704.hp1 HG04228.hp2 NA18957.hp1 NA18964.hp2 NA18971.hp1 NA18981.hp1 NA18998.hp1 NA19030.hp1 NA19063.hp1 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0018 a0019 a0020 a0022 a0028 a0029 a0030 a0039 a0046 a0047 a0048 a0049 a0054 a0055 a0056 a0059 a0060 a0063 a0066 a0068	a0001c0003 a0001c0013 a0001c0060 others(42): Show a0001c0003 a0001c0013 a0001c0060 a0002c0004 a0002c0005 a0002c0073 a0002c0112 a0003c0001 a0003c0104 a0005c0010 a0005c0019 a0006c0020 a0006c0027 a0007c0008 a0007c0059 a0008c0006 a0009c0068 a0010c0016 a0010c0029 a0011c0007 a0013c0011 a0014c0012 a0016c0015 a0018c0026 a0018c0069 a0019c0065 a0019c0108 a0020c0089 a0022c0064 a0028c0079 a0029c0076 a0030c0088 a0039c0054 a0046c0072 a0047c0057 a0048c0109 a0049c0091 a0054c0066 a0055c0036 a0056c0090 a0059c0092 a0060c0063 a0063c0045 a0066c0047 a0068c0044	a0001c0003t0001 a0001c0013t0001 a0001c0060t0001 others(42): Show a0001c0003t0001 a0001c0013t0001 a0001c0060t0001 a0002c0004t0001 a0002c0005t0001 a0002c0073t0002 a0002c0112t0001 a0003c0001t0001 a0003c0104t0001 a0005c0010t0001 a0005c0019t0001 a0006c0020t0002 a0006c0027t0001 a0007c0008t0001 a0007c0059t0001 a0008c0006t0001 a0009c0068t0001 a0010c0016t0002 a0010c0029t0001 a0011c0007t0001 a0013c0011t0002 a0014c0012t0001 a0016c0015t0001 a0018c0026t0001 a0018c0069t0002 a0019c0065t0001 a0019c0108t0002 a0020c0089t0001 a0022c0064t0001 a0028c0079t0001 a0029c0076t0002 a0030c0088t0001 a0039c0054t0001 a0046c0072t0001 a0047c0057t0001 a0048c0109t0002 a0049c0091t0001 a0054c0066t0002 a0055c0036t0001 a0056c0090t0001 a0059c0092t0001 a0060c0063t0001 a0063c0045t0002 a0066c0047t0001 a0068c0044t0001	a0001c0003t0001g0122 a0001c0003t0001g0133 a0001c0013t0001g0039 others(46): Show a0001c0003t0001g0122 a0001c0003t0001g0133 a0001c0013t0001g0039 a0001c0060t0001g0110 a0002c0004t0001g0005 a0002c0004t0001g0009 a0002c0005t0001g0056 a0002c0073t0002g0075 a0002c0112t0001g0142 a0003c0001t0001g0135 a0003c0104t0001g0038 a0005c0010t0001g0027 a0005c0010t0001g0150 a0005c0019t0001g0037 a0006c0020t0002g0086 a0006c0027t0001g0060 a0007c0008t0001g0130 a0007c0059t0001g0041 a0008c0006t0001g0033 a0008c0006t0001g0034 a0009c0068t0001g0001 a0010c0016t0002g0062 a0010c0029t0001g0097 a0011c0007t0001g0059 a0013c0011t0002g0066 a0014c0012t0001g0141 a0016c0015t0001g0137 a0018c0026t0001g0055 a0018c0069t0002g0082 a0019c0065t0001g0079 a0019c0108t0002g0085 a0020c0089t0001g0017 a0022c0064t0001g0003 a0028c0079t0001g0144 a0029c0076t0002g0068 a0030c0088t0001g0128 a0039c0054t0001g0036 a0046c0072t0001g0080 a0047c0057t0001g0151 a0048c0109t0002g0088 a0049c0091t0001g0105 a0054c0066t0002g0089 a0055c0036t0001g0006 a0056c0090t0001g0015 a0059c0092t0001g0069 a0060c0063t0001g0012 a0063c0045t0002g0084 a0066c0047t0001g0002 a0068c0044t0001g0014	49	114	0.4298	418	c.299 others(439): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATATAAAAATATTATAATATATAATAATATA TATTATAATATATATAATATATATAATATATTATAATATATATTATATAT AGTATAATATATATATTATAATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315378	A A	ATATAATT others(411): Show ATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATA GAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATGTATAACTATAATTTATAGAAATATA ATTTATATAAATGTATAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0134 a0006c0039t0001g0134	1	128	0.0078	418	c.342 others(437): Show c.3420-8534_3420-8533insCTATAATTTATAGAAATATAATTTAT ATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAA CTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATA GAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAATGT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(411): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0058 a0001c0001t0014g0058	1	129	0.0078	418	c.343 others(435): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATGAATATATATATGAATCTATATATGA ATATATATGAATCTATATATGAATATATATGAATCTATATATGAATATAT ATATGAATCTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	241	0.0041	418	c.112 others(435): Show c.1122-167_1122-166insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01346.hp1 others(8): Show HG00741.hp2 HG01192.hp1 HG01346.hp1 HG01981.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02895.hp2 HG03942.hp1 NA19056.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0252 a0001c0001t0001g0255	11	251	0.0438	418	c.112 others(435): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01109.hp2 others(4): Show HG00558.hp1 HG00621.hp2 HG01109.hp2 HG01169.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0001	a0001c0001t0001g0111 a0001c0001t0001g0247 a0001c0001t0002g0025 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0247 a0001c0001t0002g0025 a0001c0001t0002g0166 a0001c0001t0005g0025 a0001c0004t0001g0225	7	247	0.0283	418	c.112 others(435): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp2 HG02055.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0112 a0001c0001t0003g0208 a0001c0001t0001g0112 a0001c0001t0003g0208	2	242	0.0083	418	c.112 others(435): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	223	0.0045	418	c.18 others(429): Show c.1863_*1864insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG01346.hp2 others(9): Show HG00741.hp2 HG01192.hp2 HG01346.hp2 HG01981.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG03942.hp2 NA19056.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017	12	234	0.0513	418	c.18 others(429): Show c.1863_*1864insTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGC CACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCT CGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGG CTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAA TCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACC ATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01109.hp2 others(4): Show HG00558.hp2 HG00621.hp2 HG01109.hp2 HG01169.hp1 HG02897.hp1 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0002g0037	7	229	0.0306	418	c.18 others(429): Show c.1863_*1864insTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCG CCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCC TCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAG GCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCA ATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTAC CATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	223	0.0045	418	c.18 others(429): Show c.1863_*1864insTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(411): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAATTTATAATATATAATTTATAATTATAAATTATAAATTATAATATAT AATTTATATATTATAAATTTATAATATATATATATAATTTATATATTATA ATTTATAATATATAATTTATAATTATAAGTTATATATTATAATTTTTAAT TATAAGTTATAATATATAATTTATAATTATAAGTTATAATATATAATTTA TAATTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATA AGTTATAATATATAACTTATAAGTTATAATATATAACTTATAATTATAAG TTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATA TATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	8	0.1250	418	c.710 others(435): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATA TATTATAACTTATAATTATAAATTATATATTATAACTTATAATTAAAAAT TATAATATATAACTTATAATTATAAATTATATATTATAAATTATAATATA TAAATTATATATATATATTATAAATTTATAATATATAAATTATATATTAT AATTTATAATTTATAATTATAAATTATATATTATAAATTATAATTATAAA TTATATATTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18950.hp1 HG00558.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0030	2	185	0.0108	418	c.28 others(429): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	184	0.0054	418	c.28 others(429): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(82): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 NA18522.hp1 NA18943.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18976.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0003g0013 a0001c0001t0008g0037	85	268	0.3172	418	c.28 others(429): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109826	C C	CTCAGCCC others(411): Show CTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTC CCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTC TCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCC TCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCC AGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCC CTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGC CCTCCCTCAGTCCCAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18906.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	438	0.0068	418	c.29 others(429): Show c.2924_*2925insTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCA GTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCC TTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCC CTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCC CTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGTGA	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2259		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109843	G G	GGCCCTCC others(411): Show GGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCAC CCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCC ACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGT GCTCAGCCCTCTCCACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	438	0.0023	418	c.29 others(429): Show c.2941_*2942insGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTC CCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAG TGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT TCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCC TCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCA	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2276		chr19	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(411): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATACAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02055.hp2 others(17): Show HG00741.hp2 HG01243.hp1 HG02055.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0010 a0001c0002t0002g0039 a0001c0002t0002g0198 others(14): Show a0001c0002t0002g0010 a0001c0002t0002g0039 a0001c0002t0002g0198 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0006g0039 a0001c0002t0006g0208	20	25	0.8000	418	c.84 others(427): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATACAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATT TCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(411): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(105): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0011 others(3): Show a0001c0002 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0001c0015	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0007t0002 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0001c0015t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 others(73): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0214 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0232 a0001c0002t0003g0011 a0001c0002t0003g0224 a0001c0002t0007g0037 a0001c0007t0002g0057 a0001c0011t0002g0002 a0001c0012t0002g0074 a0001c0014t0002g0026 a0001c0015t0002g0002	108	113	0.9558	418	c.84 others(427): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATT TCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01358.hp2 others(4): Show HG00280.hp1 HG00738.hp2 HG01358.hp2 HG02818.hp1 HG03041.hp2 HG03942.hp2 HG04228.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0028 a0001c0001t0041 a0001c0001t0042 others(1): Show a0001c0001t0028 a0001c0001t0041 a0001c0001t0042 a0008c0008t0028	a0001c0001t0028g0026 a0001c0001t0028g0107 a0001c0001t0041g0024 others(4): Show a0001c0001t0028g0026 a0001c0001t0028g0107 a0001c0001t0041g0024 a0001c0001t0041g0236 a0001c0001t0042g0100 a0001c0001t0042g0130 a0008c0008t0028g0288	7	59	0.1186	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCATCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0109 a0001c0001t0125g0109	1	53	0.0189	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCATCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00609.hp2 others(28): Show HG00140.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG03704.hp2 HG03927.hp2 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19079.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 others(7): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 a0001c0001t0029 a0001c0001t0043 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131	a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0066 others(28): Show a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0066 a0001c0001t0003g0106 a0001c0001t0003g0175 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0268 a0001c0001t0003g0282 a0001c0001t0003g0290 a0001c0001t0003g0309 a0001c0001t0014g0069 a0001c0001t0014g0074 a0001c0001t0014g0196 a0001c0001t0014g0297 a0001c0001t0014g0304 a0001c0001t0019g0075 a0001c0001t0019g0250 a0001c0001t0019g0295 a0001c0001t0019g0356 a0001c0001t0029g0293 a0001c0001t0029g0308 a0001c0001t0029g0327 a0001c0001t0043g0133 a0001c0001t0043g0358 a0001c0001t0127g0150 a0001c0001t0128g0270 a0001c0001t0129g0089 a0001c0001t0130g0086 a0001c0001t0131g0276	31	83	0.3735	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(411): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG01192.hp2 HG02559.hp2 others(1): Show HG01071.hp1 HG01192.hp2 HG02559.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0134 a0001c0001t0135 a0001c0001t0044 a0001c0001t0134 a0001c0001t0135	a0001c0001t0044g0050 a0001c0001t0044g0301 a0001c0001t0134g0012 others(1): Show a0001c0001t0044g0050 a0001c0001t0044g0301 a0001c0001t0134g0012 a0001c0001t0135g0103	4	56	0.0714	418	c.47 others(427): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(411): Show CTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACT GTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAG TATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0240 a0001c0001t0007g0240	1	118	0.0085	418	c.-75 others(437): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATAT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATAC ATACATACAGTATACATACATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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