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
RXRA_chr9_134321455_134445585	134444377	C C	CCCCTCCT others(281): Show CCCCTCCTTCCCACCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCC TCTCCCTCCTTCCTCCTCCCCCTTCCCCCTCCCTCCTCCCTCTCCCTCTC CCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCTCC TTCCTTCCCTCCTTCCCTCCTTTCCCTCCCCTCTCCTTCCCTCTCCCTCC TTCCCCCTCCCTCCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTC TTCCCTTCCCCTCCCCCTCCTCCCTTCCCCTCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	5	0.2000	288	c.77 others(299): Show c.7763_*7764insCCCTCCTTCCCACCCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCTTCCCTCTCCCTCCTTCCTCCTCCCCCTTCCCCCTCCCTC CTCCCTCTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCTCCTTCCTTCCCTCCTTCCCTCCTTTCCCTCCCCTCTC CTTCCCTCTCCCTCCTTCCCCCTCCCTCCCTCCCTTCCCCCTCCCTCTTC CCTTCCCCCTCCCTCTTCCCTTCCCCTCCCCCTCCTCCCTTCCCCTCCTC CCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SAMD12_chr8_118372984_118626963	118469516	A A	AATATATA others(281): Show AATATATATAATATATATTATATATTATATATAATATAATTATATAATAT TATTATATATAATATATATTATATATAATATATATTTATATAATTATATT ATATATAATATATAATATATATTATATATAATATATATTATATATTATAT ATAATATATATTATATATAATATAAATATATATTATATATTATATATAAT ATATATTATATATAATATAAATATATATTATATAATTATATTATATATAA TATATAATATATAATATATATTATATATTATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	159	0.0063	288	c.193 others(307): Show c.193-29556_193-29555insATTTTTATATAATATATAATATATAT TATATATTATATATTATATATAATATAATTATATAATATATATTTATATT ATATATAATATATATTATATATAATATATAATATATATTTATATTATATA TAATATATATTATATATAATATATAATATATATTATATATAATATATATT ATATATTATATATAATATAATTATATAAATATATATTATATATAATATAT ATTATATATAATAATATTATATAATTATATTATATATAATATATAATATA TATTATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(281): Show CACACATATATATGTGTATATATATACGTATATATGCACACATATATATG TGTGTATATATACGTATATATATACACATATATATGTGTGTATATATACG TATATATACACACATATATATGTGTGTATATATACGTATATATACACACA TATATATGTGTATATATATACGTATATATACACACATATATATGTGTATA TATATACGTATATATACACACATATATATGTGTATATATATACGTATATA TATACACATATATATGTGTGCATATATACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	21	0.0476	288	c.-32 others(299): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT GCACACATATATATGTGTGTATATATACGTATATATATACACATATATAT GTGTGTATATATACGTATATATACACACATATATATGTGTGTATATATAC GTATATATACACACATATATATGTGTATATATATACGTATATATACACAC ATATATATGTGTATATATATACGTATATATACACACATATATATGTGTAT ATATATACGTATATATATACACATATATATGTGTGCATATATACGTATAT ATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(281): Show CACACATATATATGTGTATATATATACGTATATATGCACACATATATATG TGTGTATATATACGTATATATATACACATATATATGTGTGTATATATACG TATATATATACACATATATATGTGTGTATATATACGTATATATACACACA TATATATGTGTATATATATACGTATATATACACACATATATATGTGTATA TATATACGTATATATACACACATATATATGTGTATATATATACGTATATA TATACACATATATATGTGTGTATATATACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03041.hp1 HG02559.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0011 a0001c0001t0001g0030	2	22	0.0909	288	c.-32 others(299): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT GCACACATATATATGTGTGTATATATACGTATATATATACACATATATAT GTGTGTATATATACGTATATATATACACATATATATGTGTGTATATATAC GTATATATACACACATATATATGTGTATATATATACGTATATATACACAC ATATATATGTGTATATATATACGTATATATACACACATATATATGTGTAT ATATATACGTATATATATACACATATATATGTGTGTATATATACGTATAT ATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SCAPER_chr15_76342904_76910340	76800144	T T	TATACATG others(281): Show TATACATGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGTTCTGTCGCCCAGGCGGGAGTGCAGTGGCGCGATCTCCGCTCA CTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01081.hp2 others(3): Show HG00738.hp1 HG01070.hp1 HG01081.hp2 HG02622.hp1 HG02735.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0108 a0001c0012t0001g0071 a0001c0012t0001g0072	6	222	0.0270	288	c.611 others(303): Show c.611+103_611+104insGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTA CTAAAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGG AGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCCGCCTGGGCGACAG AACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT CCATGTAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	7/31			chr15	TogoVar
SCG3_chr15_51676503_51726026	51716959	C C	CTCACACC others(281): Show CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACT TGAGGCCAGGAGTTTGAGACCAGCCTGGTCAACATAGCGAGACCCCATCT CCACAAAAAATTTAAAAATTAGCCAGGTGGGCCAGGCACAGTGGTTCACA CCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGC CAGGAGTTTGAGACCAGCCTGGTCAACATAGCGAGACCCCATCTCCACAA AAAATTTAAAAATTAGCCAGGTGGGCCAGGCACAGTGGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	400	0.0025	288	c.128 others(307): Show c.1289-2273_1289-2272insAAGGTGGGAGGATCACTTGAGGCCAG GAGTTTGAGACCAGCCTGGTCAACATAGCGAGACCCCATCTCCACAAAAA ATTTAAAAATTAGCCAGGTGGGCCAGGCACAGTGGTTCACACCTGTAATC CCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGGAGTTT GAGACCAGCCTGGTCAACATAGCGAGACCCCATCTCCACAAAAAATTTAA AAATTAGCCAGGTGGGCCAGGCACAGTGGTTCACACCTGTAATCCCAGCA CTTTGGGAGGCC	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A2_chr11_62265158_62278160	62277885	C C	CCTCTCCC others(281): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	288	c.48 others(299): Show c.4890_*4891insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCT CTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4726		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289176	T T	TCTGCTCC others(281): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	273	0.0037	288	c.166 others(307): Show c.1663-1083_1663-1082insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGTCC CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCC others(281): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	257	0.0039	288	c.166 others(307): Show c.1663-1007_1663-1006insGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(281): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	260	0.0038	288	c.166 others(305): Show c.1663-913_1663-912insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339972	A A	ACAAGCAT others(281): Show ACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCA CAAGCACTGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCAC AAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAG CATTGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCAT CACTCCAGCCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCAC TCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0015 a0015	a0015c0057 a0015c0057	a0015c0057t0071 a0015c0057t0071	a0015c0057t0071g0148 a0015c0057t0071g0148	1	276	0.0036	288	c.89- others(301): Show c.89-738_89-737insGTTGGGGGGGTAGAATGAGGAGAGTAGGGGAG GGTTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGC TGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGG AGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGC AGTGCTTGTGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCA GTGCTTGTGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTA TGCTTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDHA_chr5_213320_262082	260202	T T	TCCCGTCA others(281): Show TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	162	0.0062	288	c.37 others(299): Show c.3782_*3783insCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCA GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3121		chr5	TogoVar
SDHA_chr5_213320_262082	260206	T T	TCAGAGCA others(281): Show TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGC CTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	100	0.0100	288	c.37 others(299): Show c.3786_*3787insCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCA GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACTGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTC CCAA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3125		chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77484775	G G	GTGATTGT others(281): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATT GTGATGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGAT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGA AGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp1 HG03195.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0004 a0001c0001t0013 a0002c0002t0004	a0001c0001t0013g0034 a0002c0002t0004g0024 a0001c0001t0013g0034 a0002c0002t0004g0024	2	142	0.0141	288	c.913 others(305): Show c.913+2442_913+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAA GGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGGTGATTG TGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484775	G G	GTGATTGT others(281): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATT GTGATGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGAT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGA AGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp2 HG03195.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0003 a0001c0001t0024 a0002c0002t0003	a0001c0001t0024g0071 a0002c0002t0003g0141 a0001c0001t0024g0071 a0002c0002t0003g0141	2	150	0.0133	288	c.859 others(305): Show c.859+2442_859+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAA GGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGGTGATTG TGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431993	A A	ATAGGGTG others(281): Show ATAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0132 a0001c0004t0009g0132	1	347	0.0029	288	c.101 others(305): Show c.1014-965_1014-964insGAGGGTGGACAGGGTGGACAGGGTGGAG AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(281): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGG CTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCT GCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGC CCCTGCGAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCC CTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	278	0.0036	288	c.43 others(299): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTCG CAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGG GGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGG CAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(281): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGG CTGCCCCTGCCAACAGACACCGGGCTGCCTCTGCCAACAGGCACCGGGCT GCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGC CCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCC CTGCCAACAGACACCGGGCTGCCCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03471.hp1 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	279	0.0072	288	c.43 others(299): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTT GGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCG CAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGG GGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGG CAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214433	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	352	0.0028	288	c.43 others(299): Show c.4377_*4378insAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3710		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCTCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	290	0.0069	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01943.hp1 HG01978.hp1 HG01069.hp2 HG01943.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0008 a0001c0001t0001g0027	3	291	0.0103	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCTCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03704.hp2 HG02965.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0010 a0001c0001t0001g0024	2	290	0.0069	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18993.hp1 NA18968.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0263 a0001c0002t0002g0268 a0001c0002t0002g0263 a0001c0002t0002g0268	2	290	0.0069	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCTCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(281): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCTCTG CCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCTCTGCCAACA GGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	289	0.0035	288	c.43 others(299): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214552	C C	CCCTGCCA others(281): Show CCCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCC CTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCT GCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGC CAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCA ACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTTCTGCCAAC AGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0233	1	139	0.0072	288	c.42 others(299): Show c.4258_*4259insAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGG TGCCTGTTGGCAGAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTG CCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCC TGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTG TTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT CGCAGGGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGCCTGTTGG CAGG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3591		chr2	TogoVar
SIGIRR_chr11_400716_419999	401952	C C	CGCTCACC others(281): Show CGCTCACCCCCGACCCGCTCACCCCCCGACCCGCTCACCCCAGCCCCGCT CACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCAC ACCCGGCCCCGCTCACACCCGACCCCGCTCACCCCCGACCCGCTCACCCC CCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCCGGCC CCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	235	0.0043	288	c.39 others(299): Show c.3943_*3944insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGC GGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGG GTCGGGGGGTGAGCGGGTCGGGGGTGAGCGGGGTCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGG GGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGGTGAGCGGGTCGGGGGT GAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3763		chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(281): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTCT GACCATGTCTGGATACAGTCGGTGGGGGGGGTGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATG CAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGG GGGTGCCCAGCTCTGACCATGTCTCAATGCAGTCGGGGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	139	0.0072	288	c.-15 others(305): Show c.-153-961_-153-960insCCCCCGACTGCATTGAGACATGGTCAGA GCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACT GTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTATC CAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGGT CAGAGCTGGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTG GGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1061412	A A	ATGCGGGA others(281): Show ATGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTG CGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGCCTCACCCGGAA CATCCACAGTGTGGGACTGCTGCGTCTCACCCACCGCACCTGCCGTGCAG GATCCCTGAGTCTCACCCGCCACACCCGCCGTGCGGGATCCCTGAGTCTC ACCCACTGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCACCGCACCCG CCGTGCAGGATCCCTGAGTCTCACCCGCCGCACCCGCCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	102	0.0098	288	c.274 others(305): Show c.2740-962_2740-961insCGGCGGGTGCGGCGGGTGAGACTCAGGG ATCCTGCACGGCGGGTGCGGTGGGTGAGACTCAGGGATCCTGCACGGCAG GTGCAGTGGGTGAGACTCAGGGATCCCGCACGGCGGGTGTGGCGGGTGAG ACTCAGGGATCCTGCACGGCAGGTGCGGTGGGTGAGACGCAGCAGTCCCA CACTGTGGATGTTCCGGGTGAGGCGCAGGGGTCCCGCACGGCGGGTGCGG TGGGTGAGACGCAGGGGTCCCGCACGGCGGGTGCGGTGGGTGAGACGCAG GGGTCCCGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC22A12_chr11_64586220_64607344	64596253	T T	TGGATGGA others(281): Show TGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGATGGA TGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTTGATGGTTGAA TGGATGGATGGATGGAATGGATGGATGAATGGAATTGATGGATGGATGGG ATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAATGGATGGATGG ATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGGATGGATGGAT GGATGGAATGGATGGATGGATGGAATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp2 HG03516.hp1 others(2): Show HG02922.hp2 HG03471.hp2 HG03516.hp1 NA18973.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0184	5	357	0.0140	288	c.831 others(305): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGAATGGATGGATGAATGGAATTGATG GATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAACAGATGGAAT GGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGCATGG ATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATGG GATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(281): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGA TAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	38	0.0263	288	c.203 others(305): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCT GAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCC ACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(281): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGATTG TGGTGGTAGTAGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTG ATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp1 NA19030.hp2 others(1): Show HG02615.hp1 HG03209.hp1 NA19030.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0013 a0009c0033 a0001c0013 a0009c0033	a0001c0013t0001 a0009c0033t0001 a0001c0013t0001 a0009c0033t0001	a0001c0013t0001g0185 a0001c0013t0001g0211 a0001c0013t0001g0277 others(1): Show a0001c0013t0001g0185 a0001c0013t0001g0211 a0001c0013t0001g0277 a0009c0033t0001g0063	4	5	0.8000	288	c.536 others(303): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATTATCACCATCAGC ACCACCATCACCATCATTACCATCACCAGCACCACCACCACCACCATCAC TACCATCATCATCACCATCACCATCATCATCACTATTGCTACCGCCATCA ACATTACCATCATCATCACCACCATCACCATCATCACCATCATGACCATC ATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(281): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0307 a0002c0002t0003g0307	1	386	0.0026	288	c.183 others(307): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATATAAATTATATTT ATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A9_chr3_143260222_143853468	143449349	T T	TATATTAT others(281): Show TATATTATATAATTATATAAAATATAATTATATTATATAATTATATAAAA TATAATTATATTATATAATTATATAAAATATAATTATATTATATAATTAT ATAAAATATAATTATATTATATAATTATATAAAATATAATTATATTATAT AATTATATAAAATATAATTATATTATATAATTATATAAAATATAATTATA TTATATAATTATATAAAATATAATTATATTATATAATTATATAAAATAAT TATATAAAATATAATAATTATATAATTATATAAAATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	88	0.0114	288	c.146 others(309): Show c.1469+17687_1469+17688insTATATTTTATATAATTATATAATT ATTATATTTTATATAATTATTTTATATAATTATATAATATAATTATATTT TATATAATTATATAATATAATTATATTTTATATAATTATATAATATAATT ATATTTTATATAATTATATAATATAATTATATTTTATATAATTATATAAT ATAATTATATTTTATATAATTATATAATATAATTATATTTTATATAATTA TATAATATAATTATATTTTATATAATTATATAATATAATTATATTTTATA TAATTATATAATAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9B2_chr4_103017253_103081761	103046651	A A	ATTTTGTG others(281): Show ATTTTGTGTGAAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATCT TTTGTGTGAAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATCTTT TGTGTGAAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATCTTTTG TGTGAAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATCTTTTGTG TGAAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATCTTTTGTGTG AAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp2 HG03041.hp2 others(1): Show HG01192.hp1 HG02145.hp2 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 others(1): Show a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0092	4	238	0.0168	288	c.889 others(303): Show c.889+399_889+400insGATGTGTGGAGACTTCACACAAAAGATGTG TGGAGACTTCACACAAAAGATGTGTGGAGACTTCACACAAAAGATGTGTG GAGACTTCACACAAAAGATGTGTGGAGACTTCACACAAAAGATGTGTGGA GACTTCACACAAAAGATGTGTGGAGACTTCACACAAAAGATGTGTGGAGA CTTCACACAAAAGATGTGTGGAGACTTCACACAAAAGATGTGTGGAGACT TCACACAAAAGATGTGTGGAGACTTCACACAAAAGATGTGTGGAGACTTC ACACAAAA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	7/11			chr4	TogoVar
SMYD3_chr1_245744347_246512279	245975901	C C	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	135	0.0074	288	c.532 others(307): Show c.532-45965_532-45964insAGGCTAGAGACGATGGCTTTCCCTAG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976189	C C	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0068 a0001c0006t0001g0068	1	131	0.0076	288	c.532 others(307): Show c.532-46253_532-46252insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCCGGA GACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACG ATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976857	A A	AGCCCAGG others(281): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	123	0.0081	288	c.532 others(307): Show c.532-46921_532-46920insCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGA CGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGAT GGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGG CTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403416	C C	CGGGGGAA others(281): Show CGGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG GGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAG AAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0173 a0001c0023t0001g0173	1	327	0.0031	288	c.-32 others(299): Show c.-3293_-3292insCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCT GTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTC CCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTT CTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCT CCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTC CCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3247		chr9	TogoVar
SORCS2_chr4_7187538_7747827	7448870	C C	CTTTTCCC others(281): Show CTTTTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCT TTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTC TCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0040 a0001c0014t0001g0040	1	162	0.0062	288	c.548 others(307): Show c.548+52515_548+52516insTTTTCCCTCCCTCCCTCCCTCCCTTC CTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTC CCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTC TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTC CCTCCCTCCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar

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