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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DHRSX_chrX_2214506_2505976	2314244	A A	AGGGAATG others(406): Show AGGGAATGAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAG GGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGG AGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAAGGAG GAAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGG AGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAG GGAGGGAAAGGAGGGAGGGAGGGAGGGAAGCAGGGAAGGAGGGAGGCAGG GAGGGAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGA GGGAAAGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGATGGAGGGAG GGAGGGAAGCAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	37	0.0270	413	c.287 others(432): Show c.287-22642_287-22641insCCCTGCTTCCCTCCCTCCCTCCATCC TTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTTTCCCTCCCTCCCTCCC TCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTGCCTCCCTC CTTCCCTGCTTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCT CCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTTCCTCCTTCCCTCC TTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCT GCCTCCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCTCC TTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCATTCCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875254	C C	CCACCCGC others(406): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCC CCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC GCACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCTCA CCCCCACCCCCACCCTCACCCCCACCCCCACCCGCACCCGCACCCGCACC CCCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0219 a0003c0003t0001g0219	1	270	0.0037	413	c.39 others(424): Show c.3978_*3979insAGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGG TGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGG GGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGCGGGTGCGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2488		chr20	TogoVar
DNAJB6_chr7_157332004_157422439	157369632	A A	AGGCCCTT others(406): Show AGGCCCTTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTA TTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACAT TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCAT AACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCC CTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTAAACG AGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAATGTTATTATT AAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTCAACATT ATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTT AAGATTATTAAACG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	362	0.0028	413	c.346 others(430): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGC CTTTCATAATGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAA CAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCTTCTTAACATTATT ATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTCACATT ATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCC TTCTTAACATTATTATTAAACAGGCCTTTCATAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPEP1_chr16_89608642_89643433	89634556	T T	TCCTTTCC others(406): Show TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG02809.hp1 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0034 a0005c0010t0001g0156 a0001c0001t0001g0034 a0005c0010t0001g0156	2	159	0.0126	413	c.105 others(430): Show c.105-1295_105-1294insTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635035	C C	CCCTTTCC others(406): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	160	0.0063	413	c.105 others(428): Show c.105-801_105-800insCTTCCTTCCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(406): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0284 a0001c0001t0036g0284	1	248	0.0040	413	c.355 others(432): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTGTATATATATAGTA TATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(406): Show ATATATATACTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0173 a0001c0002t0004g0173	1	172	0.0058	413	c.355 others(432): Show c.355-25607_355-25606insCTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(406): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18978.hp2 NA18983.hp1 others(2): Show HG01261.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0009 a0001c0001t0007 a0001c0002t0001 a0001c0002t0009	a0001c0001t0007g0153 a0001c0002t0001g0170 a0001c0002t0001g0175 others(2): Show a0001c0001t0007g0153 a0001c0002t0001g0170 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0009g0177	5	176	0.0284	413	c.355 others(432): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
FBN2_chr5_128252909_128543245	128539754	C C	CATATATA others(406): Show CATATATAACATGATATATATATCATATATATCATATATCATATATATTA TATCATATATATTATATCATATATATCATATATCATATATATGATATATA TGATAGATCATATATTATATCATATATATCATATATATGAGATCATATAT GATCTATCATATATATCATATCATATATATCATATCATTATCATATATCA CATATATCATATATCACATATATCACATATATCATATATCACATATATCA CATATATCATATATCACATATATCACATATATCATATATATCATATATCA CATATATCATATATATCATATATTATATATATCATATATCATATATATCA TATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATCATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0041 a0001c0009t0002g0041	1	148	0.0068	413	c.-21 others(424): Show c.-2152_-2151insATGATATATATGATATATATGATATATATGATAT ATATGATATATATGATATATATGATATATATGATATATATGATATATGAT ATATATAATATATGATATATATGATATATGTGATATATGATATATATGAT ATATGTGATATATGTGATATATGATATATGTGATATATGTGATATATGAT ATATGTGATATATGTGATATATGATATATGTGATATATGATAATGATATG ATATATATGATATGATATATATGATAGATCATATATGATCTCATATATAT GATATATATGATATAATATATGATCTATCATATATATCATATATATGATA TATGATATATATGATATAATATATATGATATAATATATATGATATATGAT ATATATGATATATATATCATGTTATATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1510		chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132556657	T T	TCCAACCG others(406): Show TCCAACCGCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACC CCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATG CTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCT GCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCT TCGTGCTGCACCCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTT CATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCA TGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTG CTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGC CTTCGTGCTGCACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	244	0.0041	413	c.645 others(430): Show c.645+8631_645+8632insGCTGTCCTGTGGGACGCTCCTCTCCAGG CCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCT CTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCT CCAGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACG CTCCTCTCCAGGCCTTCGTGCTGCACCCCAACCCCTGTCCTGTGGGACGC TCCTCTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTC CTCTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCT CTCCAGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGA CGCTCCTCTCCAGGCCTTCGTGCTGCACCCCAACC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(406): Show ATATATTTATATAAATATATAAATATATTTATATAAATATATAAATATAT TTATATAAATATATAAATATAAATATATTTATATAATATATTTATATAAA TATATAAATATATTTATATAAATATATAAATATATTTATATAAATATATA AATATATTTATATAAATATATAAATATAAATATATTTATATAAATATATA AATATAAATATATTTATATAAATATATAAATATAAATATATTTATATAAA TATATAAATATAAATATATTTATATAAATATATAAATATAAATATATTTA TATAAATATATAAATATAAATATATTTATATAAATATATAAATATAAATA TATTATATAAATATATTTATATTTATATAATATATTTATATAAATATATA AATATAAATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	32	0.0313	413	c.279 others(432): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATAAATATATTTATATAATATATTTATATTTA TATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTA TATTTATATATTTATATAAATATATTTATATTTATATATTTATATAAATA TATTTATATTTATATATTTATATAAATATATTTATATTTATATATTTATA TAAATATATTTATATTTATATATTTATATAAATATATTTATATATTTATA TAAATATATTTATATATTTATATAAATATATTTATATATTTATATAAATA TATTATATAAATATATTTATATTTATATATTTATATAAATATATTTATAT ATTTATATAAATATATTTATATATTTATATAAATATA		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9						chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(406): Show CCTCCCCCCACCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCAT CCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCT CCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGCC TCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCT ACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCT CCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCAC CCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	114	0.0088	413	c.33 others(424): Show c.3310_*3311insCTCCCCCCACCATCCCTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACC CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCC ACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCC CTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACC CCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(406): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	243	0.0041	413	c.31 others(424): Show c.3138_*3139insGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAG GGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCAC ACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCAC GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(406): Show CCTGGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCAT CTTCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCT GCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCC GCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATCTTC TCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTG GCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCATA TCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCTGT TCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG02258.hp2 HG02717.hp2 HG02809.hp1 others(5): Show HG02258.hp2 HG02717.hp2 HG02809.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp1 NA19240.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 others(1): Show a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024	a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 others(1): Show a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117	8	99	0.0808	413	c.239 others(422): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGTGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGT GGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCA GGAGGAGAAGATGCGGGGCCAGGAGAAGATGCGGGGGCAGGAGGAGAAGA TGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGG GGCAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GP6_chr19_55008705_55043264	55032908	A A	ACGGTGGG others(406): Show ACGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGG TGGACTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTTAGACG CGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTGTTAGACGCG GCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGC GGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGT TCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	271	0.0037	413	c.35- others(426): Show c.35-371_35-370insCGTCTAACACGAACGAGCCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACAC GAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACGAAC GAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAACGA GCCCTCCACGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAGT CCACCGTGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAG CCCACCGCGTCTAACACGAACGAGCCCACCG		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(406): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	166	0.0060	413	c.109 others(434): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218331	A A	ACCCAACA others(406): Show ACCCAACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCAGCCCCAACACC ACCCCAATACCTCCCCAACACCACCCCCAACACCACCCCAACACCATCCC CAACACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCCCACACC GCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACATCACC CCAACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCA ATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCCACACC ACCCCCAACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	100	0.0100	413	c.28 others(424): Show c.2813_*2814insCCCAACACCACCCCCAACACCACCCAACACCACC CCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCA CCCCAACACCATCCCCAACACCACCCCCAATACCACCCCCACACCACCCC CATCGCCCCCACACCGCCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACATCACCCCAACACCAGCCCCAACACCACCCCCAACACCAGC CCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAAC ACCATGCCCCACACCACCCCCAACACCAC		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1162		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46635159	G G	GCCACTCC others(406): Show GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC TTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAA CCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGT GTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCC TGCCCCCGCCCCCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0170 a0001c0001t0006g0170	1	277	0.0036	413	c.163 others(430): Show c.163-2681_163-2680insCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT CCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGC CCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCC GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCA		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18						chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635388	C C	CGGCCACT others(406): Show CGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCTGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACT CCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTG GGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGGA GCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCCG TGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCTCCACCCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	183	0.0055	413	c.163 others(430): Show c.163-2424_163-2423insCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCC TGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCC GTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGGAGCCGTGT CCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTC CCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTC CACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(406): Show CTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0287 a0001c0002t0051g0287	1	207	0.0048	413	c.427 others(430): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCCACTC CTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTC CTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322996	T T	TATATACA others(406): Show TATATACATATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTA TGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATA TACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGG AATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATAT ATATATATGGAATATATACGTATGGAATATATATATATGGAATATATACG TATGGAATATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	322	0.0031	413	c.-20 others(424): Show c.-2060_-2059insATATACATATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATAT ATACGTATGGAATATATATATATGGAATATATACGTATGGAATATATATA TATGGAATATATACGTATGGAATATATATATATGGAATATATACGTATGG AATATATATATGGAATATATACGTATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1973		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323052	T T	TATATATA others(406): Show TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATGTGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATGTGGAATGTATATATGTGGAATGTATATATATGGAAT ATATATATGTGGAATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG03195.hp2 HG02258.hp1 HG02647.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0044 a0001c0001t0045 a0001c0001t0020 a0001c0001t0044 a0001c0001t0045	a0001c0001t0020g0020 a0001c0001t0044g0020 a0001c0001t0045g0128 a0001c0001t0020g0020 a0001c0001t0044g0020 a0001c0001t0045g0128	3	316	0.0095	413	c.-20 others(424): Show c.-2004_-2003insATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATGTGGAAT GTATATATATGGAATATATATATGTGGAATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1917		chr21	TogoVar
IGSF9B_chr11_133891438_133961968	133932575	G G	GAGACAGA others(406): Show GAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0065 a0001c0034t0065	a0001c0034t0065g0038 a0001c0034t0065g0038	1	318	0.0031	413	c.968 others(428): Show c.968-363_968-362insGTCTGCTCTCCCACCTGGCTTCCCTGTGTC TGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTG GCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCT GCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACC TGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTC TGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT		IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19						chr11	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(406): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0070 a0001c0004t0002g0070	1	113	0.0088	413	c.258 others(430): Show c.2584-170_2584-169insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCC CTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACC GGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(406): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGGGGGTGGGGGTGATGA TGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGG GTGGGGGTGATGATGGTGAGGGTGGTGGGGGTGGGGGTGAGGGTGATGAT GGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGG GGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0059 a0059	a0059c0072 a0059c0072	a0059c0072t0001 a0059c0072t0001	a0059c0072t0001g0158 a0059c0072t0001g0158	1	31	0.0323	413	c.956 others(430): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATC ATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCACCCTCACCATCATCACCCCCACCCCCACCATCATCA CCCCCACCATCACCATCATCACCCCCACCCCCACCATCATCACCCCCACC CCCACCGTCATCACCCCCCCCACCCCCATCATCACCGTCATCACCCCTAC CGTCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCA CCCCCACCCCCACCATCACCACCCCCACCCCCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LCN15_chr9_136754634_136769518	136769453	C C	CCCCCCAT others(406): Show CCCCCCATGCACTTCCCCCCCGACACCCCGACACCCCCCATGCACTGCCC CCCCCGCCACCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGC CACCCCCCCATGCACTTCCCCCCCGCCACCCCCGCCACCCCCCATGCACT TCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCCGCCACCCC GCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCCATGC ACTTCCCCCCCGCCACCCCGCCACCACCCCATGCACTTCCCCCCCCGCCA CCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCACCCCA TGCACTTCCCCCCCCGCCACCCCGCCACCCCCCCATGCACTTCCCCCCCG CCACCCCGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	352	0.0028	413	c.-49 others(424): Show c.-4966_-4965insTGGTGGCGGGGTGGCGGGGGGGAAGTGCATGGGG GGGTGGCGGGGTGGCGGGGGGGGAAGTGCATGGGGTGGTGGCGGGGTGGC GGGGGGGAAGTGCATGGGGGGGTGGCGGGGTGGCGGGGGGGGAAGTGCAT GGGGTGGTGGCGGGGTGGCGGGGGGGAAGTGCATGGGGGGGTGGCGGGGT GGCGGGGGGGGCAGTGCATGGGGTGGTGGCGGGGTGGCGGGGGGGGCAGT GCATGGGGGGTGTCGGGGTGTCGGGGGGGAAGTGCATGGGGGGTGGCGGG GGTGGCGGGGGGGAAGTGCATGGGGGGGTGGCGGGGTGGCGGGGGGGGCA GTGCATGGGGTGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGTGT CGGGGTGTCGGGGGGGAAGTGCATGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4936		chr9	TogoVar
LHPP_chr10_124456823_124619141	124507611	C C	CAGGATTT others(406): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGG ATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGTAGGCAGGAT TTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCA GGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	151	0.0066	413	c.624 others(430): Show c.624+9496_624+9497insGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGTA GGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610443	C C	CGGGTGAG others(406): Show CGGGTGAGGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGG TGAGGGTGCTGGTGGAGCGGTGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGGTGCGGGGTGAGGGTGCTGGTGGAGCGGGGTGAGGGTG AGGGTGAGGGTGCTGGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGG TGGAGCGGGTGAGGGGCGGGGTGAGGGTGCTGGTGGAGCGGGGTGAGGGT GCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTTGAGGGTGCTG ATGGAGCGGGGTGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	251	0.0040	413	c.717 others(430): Show c.717-2812_717-2811insGTGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGTGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGGTGCGGGGTGAGGGTGCTGGTGGAGC GGGGTGAGGGTGAGGGTGAGGGTGCTGGGTGGAGCGGGTGAGGGAGCGGG TGAGGGTGCTGGTGGAGCGGGTGAGGGGCGGGGTGAGGGTGCTGGTGGAG CGGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGG TTGAGGGTGCTGATGGAGCGGGGTGAGGGTGAGGG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	895901	G G	GACACGCC others(406): Show GACACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCA CGGTCCACAGACACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACG CAGGCTGCACGGTCCACAGACACGCCTCGGAGGGGTTGTGAGGCTCAGCC ACCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGGAGGGGTTGTGA GGCTCAGCCACCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGGAG GGGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGGTCCACAGACAC GCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGGTC CACACACACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACGCAGGC TGCACGGTCCACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0002 a0001c0055t0002	a0001c0055t0002g0135 a0001c0055t0002g0135	1	289	0.0035	413	c.664 others(430): Show c.664-2830_664-2829insGTGTGGACCGTGCAGCCTGCGTGTGGGT GGCTGAGCCTCACAACCCCTCCGAGGCGTGTGTGTGGACCGTGCAGCCTG CGTGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACCG TGCAGCCTGCGTGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGTC TGTGGACCGTGCAGCCTGCGTGTGGGTGGCTGAGCCTCACAACCCCTCCG AGGCGTGTCTGTGGACCGTGCAGCCTGCGTGTGGGTGGCTGAGCCTCACA ACCCCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCGTGTGGGTGGCTG AGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCGTGT GGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LMNB2_chr19_2423166_2461959	2445552	C C	CTCGATCA others(406): Show CTCGATCACAGGGATCTGTAGTCAGAGTCCCCAACTCCCCACCCCACCAG CGGCCCCCACCTTTCACCCCTCGATCACAGGGATCTGCAGTCAGAGTCCC CAGCTCCATACCCCACCAGCGGCCCCCACCTTTCACCCCTCGATCACAGG GATCTGCAGTCAGAGTCCCCAGCTCCCCACCCCACCAGCGGCCCCCACGT TTCACCCCTCGATCACAGGGATCTGCAGTCAGAGTCCCCAGCTCCCCACC CCACCAGCGGCCCCCACCTTTCACCCCTCGATCACAGCGATCTGTAGTCA GAGTCCCCAACTCCCCACCCCACCAGCCGCCCCCACCTTTCACCCCTCGA TCACAGGGATCTGTAGTCAGTCCCCAGCTGCCCCCCCCAACCAGCCGCCC CCACCTTTCACCCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp1 HG01517.hp2 others(6): Show HG01361.hp2 HG01515.hp1 HG01517.hp2 HG02257.hp1 HG02630.hp1 HG02818.hp1 HG03130.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0005t0006	a0001c0001t0006g0013 a0001c0001t0006g0050 a0001c0001t0009g0045 others(4): Show a0001c0001t0006g0013 a0001c0001t0006g0050 a0001c0001t0009g0045 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0025g0048 a0001c0005t0006g0051	9	354	0.0254	413	c.265 others(430): Show c.265-1013_265-1012insCGGGTGAAAGGTGGGGGCGGCTGGTTGG GGGGGGCAGCTGGGGACTGACTACAGATCCCTGTGATCGAGGGGTGAAAG GTGGGGGCGGCTGGTGGGGTGGGGAGTTGGGGACTCTGACTACAGATCGC TGTGATCGAGGGGTGAAAGGTGGGGGCCGCTGGTGGGGTGGGGAGCTGGG GACTCTGACTGCAGATCCCTGTGATCGAGGGGTGAAACGTGGGGGCCGCT GGTGGGGTGGGGAGCTGGGGACTCTGACTGCAGATCCCTGTGATCGAGGG GTGAAAGGTGGGGGCCGCTGGTGGGGTATGGAGCTGGGGACTCTGACTGC AGATCCCTGTGATCGAGGGGTGAAAGGTGGGGGCCGCTGGTGGGGTGGGG AGTTGGGGACTCTGACTACAGATCCCTGTGATCGA		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11						chr19	TogoVar
LRRC24_chr8_144517388_144532033	144531682	A A	AGGCTAGA others(406): Show AGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	187	0.0053	413	c.-47 others(424): Show c.-4783_-4782insCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTG CTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCC		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4650		chr8	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(406): Show AGAGAGGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGG GAAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAG AGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAG GGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGGGGA AAGGGGAGGGGACAGGGGAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGG GGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGAGGGG AGGGGGAGAGGGGAGAGGGGGAGAGGAAGGGAGAGGGGAGGGGAGAGGGG AGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAG GGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0095 a0005c0006t0001g0095	1	16	0.0625	413	c.313 others(434): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCCTCTCCCCTCTCCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCTGTCCCCTCCCCTCCCCTGTCCCCTCCCCTTTCCCCTCCCC TCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCC CCTCCCCTTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCCCTGCCCTG TCCCCTCCCCTCTCTCCTCCCCCGTCCCCTCCCCCTCTC		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22						chr3	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	359	0.0028	413	c.112 others(430): Show c.1122-171_1122-170insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	361	0.0028	413	c.112 others(430): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735537	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG01109.hp1 others(1): Show HG00140.hp2 HG00558.hp2 HG01109.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0196 a0001c0001t0003g0032 a0001c0001t0003g0196	4	376	0.0106	413	c.112 others(430): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735537	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03491.hp2 NA18942.hp1 HG03130.hp1 HG03491.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0054 a0001c0001t0010g0140 a0001c0001t0001g0054 a0001c0001t0010g0140	3	375	0.0080	413	c.112 others(430): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735538	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03654.hp1 NA18964.hp1 HG00323.hp1 HG03654.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	3	383	0.0078	413	c.112 others(430): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MLC1_chr22_50054391_50090426	50057640	T T	TGGGGGAT others(406): Show TGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTGGGTTGGGATCAGGTCT GGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAG GTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGG TCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGG GGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGG TTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGGTCT GGGTTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGG TCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGAGCG GAAGGTCTGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02273.hp1 HG02004.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	2	115	0.0174	413	c.39 others(424): Show c.3942_*3943insCAACCCAGACCTTCCGCTCAACCCAGACCTGACC CCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCAACCCAGACCT GACCCCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGA CCTGACCCCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCCAACC CAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCC AACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTGACC CCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCT GACCCCCAACCCAGACCTGACCCCCAACCCAGACCTGATCCCAACCCAGA CCTGACCCACAATCCAGACCTGATCCCCC		MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding					1750		chr22	TogoVar
MROH1_chr8_144143016_144266926	144203090	G G	GGGGGGGA others(406): Show GGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCG CTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCCGCTCTCTGTGGAGGGG CGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGTCTGTGGAG GGGCGGGGAGGGGAGCTCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGC GCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTGG AGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGCGGGGGGGAGCGCCC GCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCC CGCTGTCTGTGGAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0020 a0002c0008t0001g0020	1	131	0.0076	413	c.114 others(432): Show c.1141+2555_1141+2556insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCC CGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGTCTGTGGAGGGGCGGGGAGGGGAGCTCCCGCTGTCTGTGGAG GGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGA GCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGG AGCGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCC CGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGG GCGGGGGGGGAAGCGCCCGCTGTCTGTGGATGGGGGG		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	334	0.0030	413	c.18 others(424): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735537	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01109.hp1 others(1): Show HG00140.hp2 HG00558.hp1 HG01109.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	4	350	0.0114	413	c.18 others(424): Show c.1860_*1861insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1765		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735537	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03491.hp2 NA18942.hp2 HG03130.hp2 HG03491.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0052	3	349	0.0086	413	c.18 others(424): Show c.1860_*1861insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1765		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735538	A A	AAAAAAAA others(406): Show AAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGA CCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTAC AGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACC CTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGG TCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAG CTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAG CGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03654.hp2 HG00323.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	357	0.0056	413	c.18 others(424): Show c.1859_*1860insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1764		chr1	TogoVar
MSR1_chr8_16102881_16197651	16189506	T T	TTTTATAT others(406): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTAGATATATTTTATATATATAA AATCTTATTTTAGATATATTTTATATATATAAAATCTTATTTTAGATATA TTTTATATATATAAAATCTTATTTTAGATATATTTTATATATATAAAATC TTATTTTAGATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	313	0.0032	413	c.-5+ others(428): Show c.-5+3091_-5+3092insTATATCTAAAATAAGATTTTATATATATAA AATATATCTAAAATAAGATTTTATATATATAAAATATATCTAAAATAAGA TTTTATATATATAAAATATATCTAAAATAAGATTTTATATATATAAAATA TATCTAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAATATATA AAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATATATATAAAATAAGATTTTATATATATAAA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(406): Show GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTAGTGGTAGTGGTGGT GGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGC GGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTG GTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGT GGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	4	0.2500	413	c.160 others(430): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACTACT GCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACTACCACCACCACCA CCACCACTACCACTACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCACTACCACCACCACCACCACCACTACCAC TACCACCACCACCACCATCACCATCACCACCACCA		MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12						chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(406): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGA TGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCA GTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGT GACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGA TGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	4	0.2500	413	c.160 others(430): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCGCCACCACCACCACCACCACCATCGCCGCCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCATCACCACCACCACCACCACCA		MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12						chr6	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(406): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	11	0.0909	413	c.26 others(424): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC TGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(406): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCA CCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19000.hp1 NA18968.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	2	207	0.0097	413	c.433 others(430): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGG AGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(406): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	30	0.0333	413	c.433 others(430): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGAAGGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
PAK2_chr3_196734857_196837647	196811208	T T	TCCCTTCC others(406): Show TCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTCCTTCCCT TCCCTACCCTCTCCCTTCCCTTCCTCCCTCCCTTCCCTCCTCCTTCCTTC CCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0098 a0001c0001t0026g0098	1	115	0.0087	413	c.773 others(428): Show c.773+555_773+556insCCCTTCCTTCCCTTCCCTACCCTCCCTTCC CTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCC TTCCCTCCCTTCCTTCCCTTCCCTACCCTCTCCCTTCCCTTCCTCCCTCC CTTCCCTCCTCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14						chr3	TogoVar

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