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
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(360): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02293.hp1 others(7): Show HG01515.hp1 HG01517.hp2 HG02293.hp1 HG02735.hp2 NA18964.hp1 NA18983.hp1 NA19002.hp2 NA19074.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0006	a0001c0001t0003 a0001c0001t0016 a0001c0001t0037 others(4): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0037 a0001c0001t0038 a0001c0004t0005 a0001c0007t0003 a0002c0006t0003	a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0103 others(7): Show a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0016g0054 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0004t0005g0079 a0001c0007t0003g0084 a0002c0006t0003g0091 a0002c0006t0003g0094	10	204	0.0490	367	c.880 others(384): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(360): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01358.hp1 others(10): Show HG00741.hp1 HG01168.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG02129.hp1 HG02451.hp1 HG02559.hp2 HG02735.hp1 HG03209.hp1 HG03669.hp2 NA18946.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0014 a0001c0002 a0001c0005 a0001c0014	a0001c0002t0002 a0001c0002t0035 a0001c0005t0009 others(1): Show a0001c0002t0002 a0001c0002t0035 a0001c0005t0009 a0001c0014t0002	a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 others(10): Show a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0174 a0001c0002t0002g0189 a0001c0002t0002g0193 a0001c0002t0035g0160 a0001c0005t0009g0203 a0001c0014t0002g0191	13	204	0.0637	367	c.880 others(384): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(360): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG AGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18973.hp2 NA18993.hp2 HG02523.hp2 NA18973.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0031g0144 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0031g0144	3	204	0.0147	367	c.880 others(384): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(360): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTTAAATAATATATATATATTATTTATAAT ATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTAAAT TATATAATTTAAATATACATATTTAAAAATATATATATTTATATATTTTT ATATATAAAAATATATATATTTAATTTTTAATATATATATTTTTAAATAT ATATATTTATATATATATTTTTATATATATATATTTATATATATATTTTT AAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp1 HG03540.hp1 others(1): Show HG02109.hp1 HG03453.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0041 a0001c0003t0002g0095 a0001c0003t0002g0096	4	408	0.0098	367	c.182 others(384): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTTAAATAATATATATATATTATT TATAATATATATTAAATTATATATATTAAAATATGTATATTAATATATAT TTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTATAT ATTTTTATATATAAAAATATATATATTTAATTTTTAATATATATATTTTT AAATATATATATTTATATATATATTTTTATATATATATATTTATATATAT ATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(360): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	426	0.0024	367	c.22 others(378): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RTP5_chr2_241864729_241878823	241874961	G G	GGGGGTCC others(360): Show GGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGG ACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAG GGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCCTCGGGGGCCAACTG CAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAAC TGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCCTCGGGGGCC AACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGC CCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCCTCGG GGGCCAACTGCAGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0009 a0006c0006t0007g0009	1	365	0.0027	367	c.16 others(378): Show c.1687_*1688insGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAG GGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTC AGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGC CTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAG GTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCC AGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAA TCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCC AATCCAGGGCCTCGGGGGCCAACTGCAGGGACA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1139		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875123	T T	TCCCAGGG others(360): Show TCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAG GGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACG AGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAATTGCAGGGA CAGGGGTCCCAGGAGAAACCCCAATCCAGGGCCTCGGGGGCCAAAATGCA GGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTG CAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAAC TGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGCCCA ACTGCAGGGACGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	365	0.0055	367	c.18 others(378): Show c.1849_*1850insCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCC AACTGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCCAGGTCTCAGGGC CCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGG GCCCAATTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGGGCCTC GGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGT CTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAG GTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGAGAAACCCCAATCC AGGTCTCAGGGCCCAACTGCAGGGACGAGGGTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1301		chr2	TogoVar
SAMD11_chr1_918923_949574	934517	G G	GGGCTGCT others(360): Show GGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGG CGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0014 a0001c0046t0014	a0001c0046t0014g0028 a0001c0046t0014g0028	1	434	0.0023	367	c.843 others(384): Show c.843-1252_843-1251insTGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBK2_chr19_55523611_55542133	55537398	G G	GCCTCCTC others(360): Show GCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGCTCTTCTTCCCTCAGACCCAGGAATCCAGGCCCCCAGCTTT CCCTCCCTCAGACCCAGGAATCCAGTCCCCCAGTGCCTCCTCCCTCAGAC CCAGGAGTCTAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCTAGGT CTCCAGCCTCTCCTCCCTCAGACCCAGGAATTCAGGTCTCCAGCCCCTCC TCCCTCAGACCTAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02080.hp2 NA18954.hp1 others(3): Show HG00438.hp1 HG02080.hp2 NA18954.hp1 NA18959.hp2 NA18979.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0013 a0001c0001t0001 a0002c0002t0013	a0001c0001t0001g0001 a0002c0002t0013g0277 a0001c0001t0001g0001 a0002c0002t0013g0277	6	434	0.0138	367	c.-34 others(376): Show c.-348_-347insGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGTCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGAGACCTG AATTCCTGGGTCTGAGGGAGGAGAGGCTGGAGACCTAGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGTCTAGACTCCTGGGTCTGAGGGAGGAGGCAC TGGGGGACTGGATTCCTGGGTCTGAGGGAGGGAAAGCTGGGGGCCTGGAT TCCTGGGTCTGAGGGAAGAAGAGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGCCTGGACTCCTGGGTCTGAGGGAGGAGG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		266		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537398	G G	GCCTCCTC others(360): Show GCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGCTCTTCTTCCCTCAGACCCAGGAATCCAGGCCCCCAGCTTT CCCTCCCTCAGACCCAGGAATCCAGTCCCCCAGTGCCTCCTCCCTCAGAC CCAGGAGTCTAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCTAGGT CTCCAGCCTCTCCTCCCTCAGACCCAGGAATTCAGGTCTCCAGCCCCTCC TCCCTCAGACCTAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18954.hp2 NA18959.hp2 others(3): Show HG00438.hp2 NA18954.hp2 NA18959.hp2 NA18979.hp2 NA19005.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	6	438	0.0137	367	c.34 others(378): Show c.3447_*3448insGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGTCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGAGACC TGAATTCCTGGGTCTGAGGGAGGAGAGGCTGGAGACCTAGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGTCTAGACTCCTGGGTCTGAGGGAGGAGGC ACTGGGGGACTGGATTCCTGGGTCTGAGGGAGGGAAAGCTGGGGGCCTGG ATTCCTGGGTCTGAGGGAAGAAGAGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3257		chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(360): Show TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGG GGTTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGG GGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGT TGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	290	0.0035	367	c.464 others(380): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGG GTGAGGGGGGTGGGGTTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGG GTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTTG GGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTG GGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGG others(360): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTC TGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGG TGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGG GGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGT CTCAATGCAGTCGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	242	0.0041	367	c.-15 others(384): Show c.-153-961_-153-960insCCCCCCGACTGCATTGAGACATGGTCAG AGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACC CCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGAC TGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTAT CCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCA CCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCC CGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(360): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGG GTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGTC TCAATGCAGTCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01175.hp1 others(10): Show HG00558.hp2 HG00621.hp1 HG01175.hp1 HG01981.hp2 HG01993.hp1 HG02615.hp1 HG02809.hp1 NA18950.hp1 NA18980.hp1 NA18986.hp2 NA19009.hp1 NA19079.hp1 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0161 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0208 a0006c0011t0001g0190	13	242	0.0537	367	c.-15 others(384): Show c.-153-961_-153-960insCCCCCCCGACTGCATTGAGACATGGTCA GAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCAC CCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGA CTGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTA TCCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATG GTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGC ACCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCC CCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(360): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0056 a0001c0001t0029g0056	1	330	0.0030	367	c.970 others(386): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(360): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAG GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0306 a0001c0001t0041g0306	1	330	0.0030	367	c.970 others(386): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(360): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18944.hp2 HG04204.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0016 a0001c0001t0015g0136 a0001c0001t0001g0016 a0001c0001t0015g0136	2	330	0.0061	367	c.970 others(386): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280850	C C	CGATCTTC others(360): Show CGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAG AGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAA GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGAC ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG AAGACAGGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	330	0.0030	367	c.970 others(386): Show c.970-22115_970-22114insCGGACGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGAT CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA GAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAG ATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAA GACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281739	A A	AGACAGGC others(360): Show AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCG GCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG AGAGCGGACGCCCGAGAG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	330	0.0030	367	c.970 others(386): Show c.970-21230_970-21229insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG CGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGA CACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA GAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACA GGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTG GCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(360): Show CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGGG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGC GGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGG GGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGG GAGGGGGGAGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGG GGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGG GGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 NA18945.hp1 HG02895.hp2 HG02896.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0018 a0001c0002t0001 a0001c0001t0009 a0001c0001t0018 a0001c0002t0001	a0001c0001t0009g0060 a0001c0001t0018g0020 a0001c0002t0001g0090 a0001c0001t0009g0060 a0001c0001t0018g0020 a0001c0002t0001g0090	3	222	0.0135	367	c.914 others(386): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGC CTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCT CCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(360): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGC TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGG CCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCA GGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCGGGC AGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCGGG CAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGC GGCAGGCAGGGTGGCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0293 a0001c0003t0030g0293	1	356	0.0028	367	c.142 others(386): Show c.1423+1642_1423+1643insTGACACACGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAG TGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTC TGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTT CTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGT TCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGG CCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMCO1_chr3_196501879_196520346	196511899	G G	GATTGTCG others(360): Show GATTGTCGTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATG AGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACTTGCC TGGGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGA TTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCGTTATGAG GGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTG GGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATT GTCGTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGG AAACCTGCCTGGGCCGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0158 a0004c0004t0012g0158	1	398	0.0025	367	c.51- others(382): Show c.51-2231_51-2230insGGCGGCCCAGGCAGGTTTCCCTCATAAGGA CAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAACGACAATCTAGGCGGC CCAGGCAGGTTTCCCTCATAAGGACAATCTAGGCGGCCCAGGCAGGTTTC CCTCATAAGGACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAACGACA ATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGCGGCCC AGGCAGGTTTCCCTCATAAGGACAATCTAGGCGGCCCAGGCAAGTTTCCC TCATAAGGACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAAT CTAGGCGGCCCAGGCAGGTTTCCCTCATAACGACAAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMOC2_chr6_168436184_168672992	168654307	T T	TGCACCTG others(360): Show TGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGA GCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACC AGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACC AACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGAT GTTAGGAACTCACCAACC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	180	0.0056	367	c.128 others(386): Show c.1285+1079_1285+1080insGCACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACC AACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGAT GTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAAC TCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACC CTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12			chr6	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(360): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGGAGGGGAGGGG GAGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGG GAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAG GGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	260	0.0039	367	c.138 others(386): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCC CTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCC CTCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(360): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGG AGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAG GGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	260	0.0039	367	c.138 others(386): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(360): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGG GGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGG GGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	260	0.0039	367	c.138 others(386): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(360): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGG GGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGG AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGAGGGGGAGG GGGGGGGAGGGGAGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	260	0.0039	367	c.138 others(386): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCTCCCCTCCCCCCCCCTCCCCC TCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCC CCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(360): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGC CGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGAC TGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTG GGGTGTAGATGAAGGAGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	292	0.0034	367	c.395 others(384): Show c.395-5738_395-5737insGTGGGAAGAGGGTCATGGAGGAGTGTGA GCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGT GAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGA GTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGA AGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGA GCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	62057665	G G	GGGGGGCC others(360): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACC AGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGG CCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0205 a0001c0005t0002g0205	1	314	0.0032	367	c.136 others(386): Show c.1360+6785_1360+6786insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGAC CTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48638361	C C	CCGACACT others(360): Show CCGACACTAAGCCCTGGGACACCGCACACAGGGGGGACCCCGACACTAAG CCCTGGGACACCACACACAGGCGGGACCCCCCCCCCATCCCCCGACACTA AGCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCCCTGGGAC ACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAG GGGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCT CCCCTGACACTAAGCCACACATAGGCAACAACCCCCCACACACACTAAGC CCTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGA CACCGCACACAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG04228.hp1 NA19087.hp1 HG01167.hp2 HG04228.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0097 a0001c0001t0001g0151 a0001c0001t0003g0234 a0001c0001t0001g0097 a0001c0001t0001g0151 a0001c0001t0003g0234	3	258	0.0116	367	c.113 others(384): Show c.113-8235_113-8234insGACACTAAGCCCTGGGACACCGCACACA GGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGACCCC CCCCCCATCCCCCGACACTAAGCCCTGGGTCACCGCACACAGGGGGGACC CCAACACTAAGCCCTGGGACACCACACACAGGGGGGACCCCGACACTAAG CCCTGGGACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGTCAC CACACACAGGCAATACCCCTCCCCTGACACTAAGCCACACATAGGCAACA ACCCCCCACACACACTAAGCCCTGGGCCACACACAGGCAATACCACCCCC CCCGACACTAAGCCCTGGGACACCGCACACAGGGGGGAC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1627945	A A	ACGGGGTG others(360): Show ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGG GAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	352	0.0028	367	c.299 others(382): Show c.299-520_299-519insAGCTCTGCTGTCCCCTTCCCGCCCCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(360): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCACCATCCACAGTCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	392	0.0026	367	c.228 others(386): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGA TGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(360): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTC CCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCA GCCTCTCCCCCCTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	370	0.0027	367	c.-11 others(378): Show c.-1168_-1167insCACACAGGGGGGAGAGGCTGGGTGGGGCACGGGG GGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGG CACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGG GGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(360): Show TTGTATAAAAATATATATCATATATATTTATATATTGTATAAAAATATAT ATATCATATATATTTATATATTGTATAAAAATATATATATCATATATATT TATATATTATATAAAAATATATATATCATATATATTTATATATTATATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATGTATCA TATATATTTATATATTATATATTATATATTTATATTTTATTTTTATATTT ATATTATATATATTTTTTATATTTATATTTATATATCATATTATATTTAT ATATTATATAAAAATATCATATATATTTATATATTATATAAAAATATCAT ATATATTTATATATTATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG03209.hp1 others(1): Show HG02145.hp2 HG02486.hp1 HG03209.hp1 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0007 a0002c0005t0007 a0002c0005t0051 a0002c0001t0007 a0002c0005t0007 a0002c0005t0051	a0002c0001t0007g0069 a0002c0001t0007g0122 a0002c0005t0007g0029 others(1): Show a0002c0001t0007g0069 a0002c0001t0007g0122 a0002c0005t0007g0029 a0002c0005t0051g0099	4	128	0.0313	367	c.143 others(388): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTGTAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATAAAAATATATGTATCATATATATTTATATATTATATATTATA TATTTATATTTTATTTTTATATTTATATTATATATATTTTTTATATTTAT ATTTATATATCATATTATATTTATATATTATATAAAAATATCATATATAT TTATATATTATATAAAAATATCATATATATTTATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOP1MT_chr8_143304324_143339880	143337761	T T	TAAAGAAA others(360): Show TAAAGAAAAGGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	430	0.0023	367	c.-29 others(378): Show c.-2901_-2900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCTGCCTTTTCTTT	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		2882		chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CGGGGTTA others(360): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGAAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAG GGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGT AGGGAGGCTGGGGGTTAGGAAGGCCGGGGTCAGGGAGGCCAGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGAC CAAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG02647.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	2	466	0.0043	367	c.46 others(378): Show c.4682_*4683insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTC CCTGACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCC TTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTTCCTAACCCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(360): Show TATATTATATAGTTAATAATATAGTATATTATATATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATATAATATAGTATATTATATTATA TAGTATATAATATAGTATATTCATATTATATAGTATATAATATAGTATAT TATATTATATAGTATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	118	0.0085	367	c.44- others(384): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATGAATATACTATATTATATACTATATAATATAA TATACTATATTATATATACTATATAATATAATATACTATATTATATACTA TATAATATAATATACTATATTATATACTATATAATATAATATACTATATT ATATACTATATAATATAATATACTATATTATATACTATATAATATAATAT ACTATATTATATACTATATAATATAATATACTATATTATATACTATATAA TATAATATACTATATTATATACTATATAATATAATATACTATATTATATA CTATATATATAATATACTATATTATTAACTATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(360): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCCTTCTTCCCTCCCCCCTTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	334	0.0030	367	c.657 others(382): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCCTTCTTCCCTCCCCCCTTCCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT TCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
WWP1_chr8_86337547_86473503	86347406	T T	TTCCTATG others(360): Show TTCCTATGTCAGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	300	0.0033	367	c.-11 others(386): Show c.-115+4496_-115+4497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTG TCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTATGTCAGTATTCTTTT	WWP1	ENSG00000123124.14	transcript	ENST00000517970.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr8	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(360): Show AACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGA GTCAGCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp2 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0375 a0001c0001t0001g0376	2	404	0.0050	367	c.339 others(384): Show c.339+1128_339+1129insCAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YTHDF3_chr8_63163621_63217786	63213950	A A	ACAGTATT others(360): Show ACAGTATTAGATATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	374	0.0027	367	c.42 others(378): Show c.4244_*4245insCAGTATTAGATATTTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	YTHDF3	ENSG00000185728.17	transcript	ENST00000539294.6	protein_coding		1165		chr8	TogoVar
ZFPM1_chr16_88448280_88542031	88461035	G G	GGACCGAG others(360): Show GGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGG CAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAG GGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAT GACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCC CTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAG GCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGG GGCGGGAGGCCTGGTGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG00733.hp1 HG00738.hp2	a0002 a0002	a0002c0010 a0002c0011 a0002c0010 a0002c0011	a0002c0010t0001 a0002c0011t0007 a0002c0010t0001 a0002c0011t0007	a0002c0010t0001g0073 a0002c0011t0007g0018 a0002c0010t0001g0073 a0002c0011t0007g0018	2	318	0.0063	367	c.40+ others(382): Show c.40+7367_40+7368insAGGGGCGGGAGGCCTGGTGAGGACCGAGGG GTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGG ACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTG AGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGA CCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGG CGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAG GGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGA GGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461041	A A	AGGGGCGG others(360): Show AGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGA CCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCT GGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGG CAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAG GGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAG GACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCCAGGGGCGGGAGGCC TGGTGAGGACCCAGGGGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0007 a0007c0025t0007	a0007c0025t0007g0067 a0007c0025t0007g0067	1	318	0.0031	367	c.40+ others(382): Show c.40+7484_40+7485insGCCTGGTGATGACCGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCA GAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGG ATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAGGA CCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCCAGGGGCGGGAGGCCTG GTGAGGACCCAGGGGTGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAG AAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGA TGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461137	A A	ACCTGGTG others(360): Show ACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGG GCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCA GGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGA TGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGG TGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGG AGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAGGACCGAGGGGCG GGGCGGGAGGCCTGGTGAGGACCCAGGGGCGGGAGGCCTGGTGAGGACCC AGGGGTGGGGCGGGAGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0034 a0002c0011t0034	a0002c0011t0034g0075 a0002c0011t0034g0075	1	318	0.0031	367	c.40+ others(382): Show c.40+7493_40+7494insTGACCGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAG ACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGG AGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGC AGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGAC CGAGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGG TGAGGACCCAGGGGCGGGAGGCCTGGTGAGGACCCAGGGGTGGGGCGGGA GGCCCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370753	T T	TACATCAT others(360): Show TACATCATATACATCATATATGATATATACATCATATATCACACATATGA TATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATATATCATATATCACACATAT GATATATATCATATATCACACATATCATATATATCATATATCACACATAT CATATATATCATACATATCACATATATCATATATATCATACATATCACAT ATATCATATATATCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	350	0.0029	367	c.-37 others(378): Show c.-3719_-3718insACATCATATACATCATATATGATATATACATCAT ATATCACACATATGATATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATATATC ATATATCACACATATGATATATATCATATATCACACATATCATATATATC ATATATCACACATATCATATATATCATACATATCACATATATCATATATA TCATACATATCACATATATCATATATATCATAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3615		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(360): Show CATCATATACATCATATATGATATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TATATCATATATCACACATATGATATATATCATATATCACACATATGATA TATATCATATATCACACATATGATATATATCATACATATCACATATATCA TATATATCATACATATCACATATATCATATATATCATACATATCACATAT ATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	350	0.0029	367	c.-36 others(378): Show c.-3690_-3689insATCATATACATCATATATGATATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATATATCATATATCACACATATGATATATATCATAT ATCACACATATGATATATATCATATATCACACATATGATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATCATATATATC ATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(360): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0145 a0001c0001t0055g0145	1	434	0.0023	367	c.328 others(382): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATAAAAA others(361): Show AATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	368	c.-10 others(379): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATAAAAA others(361): Show AATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT CATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTA TATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAA AATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	368	c.-14 others(379): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTT ATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAA ATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATT TATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1617389	C C	CATCCAGA others(361): Show CATCCAGACACACTCCACACTGCCCTGCTGAGCTCTGCATCCTGGGAACT GGCCTCAGAGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGA CACACTCCGCACCACCCTGCTGTGCTCTGCATCCTGGTAATTGACCTCGG AGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCCTCCAGACACACTCC ACACCGCCCTGCTGTGCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGC ATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCGCACCACC CTGCTGTGCTCTGCATCCTGGGAACTGACCTCAGAGGGTTACATTCTGTT GCTAGATGTTTGTGTGCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp2 HG02040.hp1 others(6): Show HG00438.hp1 HG01433.hp2 HG02040.hp1 HG02040.hp2 HG03017.hp2 NA18945.hp1 NA18983.hp1 NA18983.hp2 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0016 a0003c0006	a0001c0001t0003 a0001c0001t0011 a0002c0002t0007 others(5): Show a0001c0001t0003 a0001c0001t0011 a0002c0002t0007 a0002c0002t0008 a0002c0002t0065 a0002c0004t0028 a0002c0016t0006 a0003c0006t0003	a0001c0001t0003g0097 a0001c0001t0011g0017 a0002c0002t0007g0002 others(6): Show a0001c0001t0003g0097 a0001c0001t0011g0017 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0047 a0002c0002t0065g0086 a0002c0004t0028g0020 a0002c0016t0006g0010 a0003c0006t0003g0090	9	106	0.0849	368	c.100 others(389): Show c.100+119661_100+119662insAGGCACACAAACATCTAGCAACAG AATGTAACCCTCTGAGGTCAGTTCCCAGGATGCAGAGCACAGCAGGGTGG TGCGGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAAC CGTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGCAGGGCGGTGTGGAGT GTGTCTGGAGGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCCGAG GTCAATTACCAGGATGCAGAGCACAGCAGGGTGGTGCGGAGTGTGTCTGG ACGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCTGAGGCCAGTTC CCAGGATGCAGAGCTCAGCAGGGCAGTGTGGAGTGTGTCTGGAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1617389	C C	CGTCCAGA others(361): Show CGTCCAGACACACTCCACACTGCCCTGCTGAGCTCTGCATCCTGGGAACT GGCCTCAGAGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGA CACACTCCGCACCACCCTGCTGTGCTCTGCATCCTGGTAATTGACCTCGG AGGGCTGCATTCTGTTGCTAGATGTTTGTGTGCCCCTCCAGACACACTCC ACACCGCCCTGCTGTGCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGC ATTCTGTTGCTAGATGTTTGTGTGCCCGTCCAGACACACTCCGCACCACC CTGCTGTGCTCTGCATCCTGGGAACTGACCTCAGAGGGTTACATTCTGTT GCTAGATGTTTGTGTGCCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02083.hp2 HG02615.hp1 others(4): Show HG01433.hp1 HG02083.hp2 HG02615.hp1 HG02717.hp2 HG02735.hp2 HG03540.hp1 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0013 a0011c0011	a0001c0001t0010 a0001c0003t0001 a0001c0003t0039 others(4): Show a0001c0001t0010 a0001c0003t0001 a0001c0003t0039 a0002c0002t0002 a0002c0002t0005 a0007c0013t0020 a0011c0011t0034	a0001c0001t0010g0025 a0001c0003t0001g0052 a0001c0003t0039g0044 others(4): Show a0001c0001t0010g0025 a0001c0003t0001g0052 a0001c0003t0039g0044 a0002c0002t0002g0066 a0002c0002t0005g0012 a0007c0013t0020g0037 a0011c0011t0034g0076	7	106	0.0660	368	c.100 others(389): Show c.100+119661_100+119662insAGGCACACAAACATCTAGCAACAG AATGTAACCCTCTGAGGTCAGTTCCCAGGATGCAGAGCACAGCAGGGTGG TGCGGAGTGTGTCTGGACGGGCACACAAACATCTAGCAACAGAATGCAAC CGTCTGAGGCCAGTTCCCAGGATGCAGAGCACAGCAGGGCGGTGTGGAGT GTGTCTGGAGGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCCGAG GTCAATTACCAGGATGCAGAGCACAGCAGGGTGGTGCGGAGTGTGTCTGG ACGGGCACACAAACATCTAGCAACAGAATGCAGCCCTCTGAGGCCAGTTC CCAGGATGCAGAGCTCAGCAGGGCAGTGTGGAGTGTGTCTGGAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar

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