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
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02109.hp1 others(32): Show HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010	a0001c0001 a0002c0003 a0003c0004 others(6): Show a0001c0001 a0002c0003 a0003c0004 a0003c0023 a0003c0027 a0005c0015 a0006c0013 a0008c0016 a0010c0020	a0001c0001t0007 a0002c0003t0002 a0003c0004t0002 others(10): Show a0001c0001t0007 a0002c0003t0002 a0003c0004t0002 a0003c0004t0004 a0003c0004t0009 a0003c0004t0011 a0003c0023t0002 a0003c0027t0004 a0005c0015t0002 a0006c0013t0002 a0006c0013t0004 a0008c0016t0002 a0010c0020t0007	a0001c0001t0007g0086 a0002c0003t0002g0181 a0003c0004t0002g0024 others(26): Show a0001c0001t0007g0086 a0002c0003t0002g0181 a0003c0004t0002g0024 a0003c0004t0002g0031 a0003c0004t0002g0034 a0003c0004t0002g0038 a0003c0004t0002g0068 a0003c0004t0002g0074 a0003c0004t0002g0080 a0003c0004t0002g0099 a0003c0004t0002g0114 a0003c0004t0002g0120 a0003c0004t0004g0096 a0003c0004t0004g0100 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0009g0135 a0003c0004t0011g0147 a0003c0023t0002g0117 a0003c0027t0004g0060 a0005c0015t0002g0133 a0006c0013t0002g0095 a0006c0013t0002g0119 a0006c0013t0002g0175 a0006c0013t0004g0128 a0008c0016t0002g0104 a0008c0016t0002g0112 a0008c0016t0002g0144 a0010c0020t0007g0107	35	456	0.0768	377	c.17 others(388): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGT GTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGAGAGGCACACGTG TGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGT GTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCA TGTGTAGCACTGTGAGGCACACGTGTGGTGTGTATGCATAGCACGTGTGA TTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCGTACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0184 a0003c0004t0009g0184	1	456	0.0022	377	c.17 others(388): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGT GTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGAGAGGCACACGTG TGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGT GTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCA TGTGTAGCACTGTGAGGCACACGTGTGGTGTGTACGCATAGCACGTGTGA TTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RGS11_chr16_263307_280944	267569	G G	GTGCACTA others(370): Show GTGCACTACACACAATCACACGTGCTATGCATACACACCACACGTGTGCC TCACAGTGCTACACATGCCTCATACACATGACACGTGCACACACCACATA TGCATGCCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGC TATGCGTACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTAC ACGACACGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCAC ACGTGCACTACACACAATCACACATGCTATGTGTACACACCACACGTGTG CCTCAGTGCTACACATGCCTCATACACACGACACGTGCACACACCACATA TGCATGCCTCACAGTACACCTGCACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03209.hp2 HG01106.hp1 HG03209.hp2	a0010 a0013 a0010 a0013	a0010c0020 a0013c0037 a0010c0020 a0013c0037	a0010c0020t0007 a0013c0037t0007 a0010c0020t0007 a0013c0037t0007	a0010c0020t0007g0141 a0013c0037t0007g0149 a0010c0020t0007g0141 a0013c0037t0007g0149	2	456	0.0044	377	c.16 others(388): Show c.1699_*1700insAGTGTGCAGGTGTACTGTGAGGCATGCATATGTG GTGTGTGCACGTGTCGTGTGTATGAGGCATGTGTAGCACTGAGGCACACG TGTGGTGTGTACACATAGCATGTGTGATTGTGTGTAGTGCACGTGTGCAG GTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGTCGTGTAGGA TGCATGTGTAGCACTGAGAGGCACACGTGTGGTGTGTACGCATAGCATGT GTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCATGCATATGTG GTGTGTGCACGTGTCATGTGTATGAGGCATGTGTAGCACTGTGAGGCACA CGTGTGGTGTGTATGCATAGCACGTGTGATTGTGTGTAGTGCA	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		737		chr16	TogoVar
RIN2_chr20_19753258_20007456	19924208	A A	ACCTTCAT others(370): Show ACCTTCATACCTCACTTCTTCATACCCTCACCTTCATACCCCACCTCTTC ATACCCCCACCTTCACACCCTCACCTTCATACCCCCACCTTCATACCCCC ACCTTCATACCCCCACCTTCATACCCCCACCTTCGTACCCCACCTTCACA CCCCACCTTCATACCCCCACCTTCATACCCCCACTTTCCATACCCCTACC TTCATTCCCCACCTTTTCATACCCCCACCTTCATACCCTACCTCTTTATA CCCCCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACCCCCACC TTCATACCCCACCTTCATACACCCACCTTCATACCCCACCTTCATACCCT CACCTTCATACCCTCACCTCCATACCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02056.hp2 HG02071.hp1 others(1): Show HG00558.hp1 HG02056.hp2 HG02071.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0006 a0001c0002t0013	a0001c0001t0002g0107 a0001c0001t0006g0001 a0001c0002t0006g0072 others(1): Show a0001c0001t0002g0107 a0001c0001t0006g0001 a0001c0002t0006g0072 a0001c0002t0013g0185	4	276	0.0145	377	c.58- others(394): Show c.58-10891_58-10890insCCTTCATACCTCACTTCTTCATACCCTC ACCTTCATACCCCACCTCTTCATACCCCCACCTTCACACCCTCACCTTCA TACCCCCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACCCCCA CCTTCGTACCCCACCTTCACACCCCACCTTCATACCCCCACCTTCATACC CCCACTTTCCATACCCCTACCTTCATTCCCCACCTTTTCATACCCCCACC TTCATACCCTACCTCTTTATACCCCCACCTTCATACCCCCACCTTCATAC CCCCACCTTCATACCCCCACCTTCATACCCCACCTTCATACACCCACCTT CATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACCTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(370): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18971.hp1 NA19000.hp2 NA18941.hp2 NA18971.hp1 NA19000.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0001 a0003c0003t0003 a0005c0006t0001 a0003c0003t0001 a0003c0003t0003 a0005c0006t0001	a0003c0003t0001g0210 a0003c0003t0003g0228 a0005c0006t0001g0226 a0003c0003t0001g0210 a0003c0003t0003g0228 a0005c0006t0001g0226	3	334	0.0090	377	c.45- others(392): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(370): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG03834.hp2 others(1): Show HG02145.hp1 HG03579.hp1 HG03834.hp2 NA18970.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0014	a0001c0001 a0006c0029 a0008c0010 others(1): Show a0001c0001 a0006c0029 a0008c0010 a0014c0015	a0001c0001t0001 a0006c0029t0001 a0008c0010t0006 others(1): Show a0001c0001t0001 a0006c0029t0001 a0008c0010t0006 a0014c0015t0004	a0001c0001t0001g0063 a0006c0029t0001g0188 a0008c0010t0006g0301 others(1): Show a0001c0001t0001g0063 a0006c0029t0001g0188 a0008c0010t0006g0301 a0014c0015t0004g0198	4	334	0.0120	377	c.45- others(392): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(370): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG02083.hp1 others(4): Show HG00673.hp1 HG01257.hp1 HG02083.hp1 NA18964.hp1 NA18975.hp1 NA18988.hp1 NA18999.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0030	a0001c0001 a0003c0003 a0007c0007 others(1): Show a0001c0001 a0003c0003 a0007c0007 a0030c0041	a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 a0007c0007t0002 a0030c0041t0001	a0001c0001t0001g0148 a0001c0001t0001g0234 a0003c0003t0001g0117 others(4): Show a0001c0001t0001g0148 a0001c0001t0001g0234 a0003c0003t0001g0117 a0003c0003t0001g0313 a0007c0007t0001g0111 a0007c0007t0002g0215 a0030c0041t0001g0319	7	334	0.0210	377	c.45- others(392): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(370): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19091.hp1 NA18964.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0133 a0003c0003t0001g0221 a0001c0001t0001g0133 a0003c0003t0001g0221	2	334	0.0060	377	c.45- others(392): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(370): Show CCCACCATCACCCTCACCATCATCTTCACCATCACTGTCCCCATCATCTT CATCACCACTTCCATCACCCTAGCCATCCTTCCTCCATCATCTCCACCAT CACCCTTGCCATCATCTTCACTACCACCTCCACCATCACCCTCGCCATCC TTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCT CCACCATCACCCTCGCCATCCTTTCTCCATCAACTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCACCCTCACCATCCTTCCTCCA TCACCTCCACCATCCACCCTCACCATCATCTTCACCACCACCTCCACCAT CACCCTCGCCATCCTTTCTTCATCACTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0030 a0001c0047t0030	a0001c0047t0030g0222 a0001c0047t0030g0222	1	244	0.0041	377	c.193 others(396): Show c.1938+2093_1938+2094insAAGTGATGAAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGGATGGTGGAGGT GATGGAGGAAGGATGGTGAGGGTGATGGTGGAGGTGGTGGTGAAGATGAT GGCGAGGGTGATGGTGGAGTTGATGGAGAAAGGATGGCGAGGGTGATGGT GGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGA AAGGATGGCGAGGGTGATGGTGGAGGTGGTAGTGAAGATGATGGCAAGGG TGATGGTGGAGATGATGGAGGAAGGATGGCTAGGGTGATGGAAGTGGTGA TGAAGATGATGGGGACAGTGATGGTGAAGATGATGGTGAGGGTGATGGTG G	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(370): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGG AAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	396	0.0025	377	c.807 others(394): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCCT CCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(370): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGGGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGG GGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGG AAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	396	0.0025	377	c.807 others(394): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCC CCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCC TCCCTCCTCCCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(370): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGAGGG AGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGA GGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGG AAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	396	0.0025	377	c.807 others(394): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCTCCCCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(370): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGAGGG GGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGG GGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGG AAGAGGAAGAAGAGGAAGAGGAAGGAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	396	0.0025	377	c.807 others(394): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(370): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGAGGG GGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGG GGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGG AAGAGGAAGAAGAGGAAGAGGAAGGAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	396	0.0025	377	c.807 others(394): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(370): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCCTATATATA TATTCCATATATATATATTCCCTATATATATATTCCATATATATATATTC CCTATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTTCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATATATATA TTCCATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	324	0.0031	377	c.115 others(394): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATATGAAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATAGG GAATATATATATATGGAATATATATATAGGGAATATATATATATGGAATA TATATATAGGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	401916	G G	GCTCACCC others(370): Show GCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTC ACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCC AGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGAC CCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCG CTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCA CACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCC CGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCC CCGCTCACCCGGGACCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	242	0.0041	377	c.39 others(388): Show c.3979_*3980insGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTG AGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGG TGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTG AGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGG GTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3799		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(370): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCG GGGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCG GGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGG GGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAG GACGCGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	222	0.0045	377	c.914 others(396): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCGCG TCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCCC CCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCC CCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCG CCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCGCCC CCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCC C	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCAGG others(370): Show CGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	314	0.0032	377	c.209 others(394): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02683.hp2 others(9): Show HG01243.hp1 HG01496.hp2 HG02683.hp2 HG02698.hp1 HG03491.hp2 NA18952.hp2 NA18953.hp1 NA18966.hp1 NA19078.hp1 NA19080.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0003 a0001c0001t0001 a0001c0001t0003 a0002c0003t0003	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0125 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0002c0003t0003g0240	12	314	0.0382	377	c.209 others(394): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	314	0.0032	377	c.209 others(394): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00735.hp1 others(14): Show HG00558.hp2 HG00609.hp2 HG00735.hp1 HG01074.hp1 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG02818.hp1 HG03017.hp1 HG03710.hp1 HG04199.hp2 NA18949.hp2 NA19003.hp1 NA19081.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0008t0001g0063	17	314	0.0541	377	c.209 others(394): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCC GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	314	0.0032	377	c.209 others(394): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC GGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0311 a0001c0004t0004g0311	1	314	0.0032	377	c.209 others(394): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC37A1_chr21_42508852_42586426	42570132	T T	TGACACAT others(370): Show TGACACATGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGCCAT GTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGT TGCCATGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGT GGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGG CAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCGG GCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAG CGGCAGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCGGGCAGGGTGGCCGTTGTCATGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	356	0.0028	377	c.142 others(396): Show c.1423+1700_1423+1701insTGGCCTGGTTCTGAGAAGCGGCAGGC AGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCG GCGGGCAGGGTGGCCGTTGCCATGTCATGCGACACACGGCCTGGTTCTGA GAAGCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGG TTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTG GTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACAC GGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCTGTTGCCATGTGACACA CGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGACAC A	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLCO3A1_chr15_91848708_92170903	92143382	T T	TATAAAAT others(370): Show TATAAAATATATATATATTATATAATATATATATAAAATATATATATATT ATATAATATATATATAAAATATATATATATTATATATAAAATATATATAT TATATAATATATATATAAAATATATATATTATATAATATATATATAAAAT ATATATATTATATAATATATATATAAAATATATATATTATATAATATATG TAATATTATATATAATATATATATTATATATATTATATATTATATATATT ATATATATTATATATAATATATATTATATATTATATATATTATATATATT ATATATAATATATTATATATAATATATATAATATATATAATATATATATT ATATATAATATATATAATATATATAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0006 a0001c0001t0044g0006	1	190	0.0053	377	c.151 others(396): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATAATATATATATAAAATATATATAT ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATGTAATATTATATATAATATATATATTATA TATATTATATATTATATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATATTATATATAATATATTATATATAATATATA TAATATATATAATATATATATTATATATAATATATATAATATATATAAAA A	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(370): Show CATATAATATATAATATATATCATATACACATATAATATATAATATATAT CATATACACATATATAATATATATCATATACACATATAATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATGATATATGATATATATCATATACACATATGATATATGATATATATCA TATACACATATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATATGATATATATCATATACACATATGA TATATGATATATATCATATACACATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0126 a0004c0008t0001g0126	1	134	0.0075	377	c.627 others(396): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATAATATATAATATATATCATATACACATATATAATATATATCATATACA CATATAATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATATGATATATATCATATACACATAT GATATATGATATATATCATATACACATATGATATATGATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT A	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(370): Show CATATAATATATAATATATATCATATACACATATATAATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATGATATATGATATATATCATATACACATATGATATATGATATATATCA TATACACATATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATATGATATATATCATATACACATATGA TATATGATATATATCATATACACATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	134	0.0075	377	c.627 others(396): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATAATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATATGATATATATCATATACACATAT GATATATGATATATATCATATACACATATGATATATGATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT A	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRXN1_chr20_641615_658200	642007	G G	GGGGGGAG others(370): Show GGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	377	c.67 others(388): Show c.6706_*6707insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4607		chr20	TogoVar
SRXN1_chr20_641615_658200	642007	G G	GGGGGGAG others(370): Show GGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	377	c.67 others(388): Show c.6706_*6707insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4607		chr20	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GGCCCAGC others(370): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	422	0.0024	377	c.64 others(388): Show c.6413_*6414insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
STK32B_chr4_5046480_5505989	5274461	T T	TAAGAATC others(370): Show TAAGAATCCCTAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0128 a0002c0004t0002g0128	1	170	0.0059	377	c.261 others(396): Show c.261-56744_261-56743insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAA ATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCCCTAAGC C	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(370): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATACACACA TATGTGTGTATATACATATATACATATATACATATATACACATATGTGTA CATATGTGTATATATACATATATATACACATATATATGTATATATACACA TATGTGTACATATGTGTATATATACATATATACACATATATATGTATATA TACACATATGTGAATATATATGTGTTATATATACACATATGTGTATATGT ATATATGTATATATACACATATGTGTATATATACATATATACATATACAC ATATGTGTATATATAACACATATATATACACATATGTGTATATATACATA TATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	376	0.0027	377	c.158 others(396): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATACACACATATGTGTGTATATACATATATACATAT ATACATATATACACATATGTGTACATATGTGTATATATACATATATATAC ACATATATATGTATATATACACATATGTGTACATATGTGTATATATACAT ATATACACATATATATGTATATATACACATATGTGAATATATATGTGTTA TATATACACATATGTGTATATGTATATATGTATATATACACATATGTGTA TATATACATATATACATATACACATATGTGTATATATAACACATATATAT ACACATATGTGTATATATACATATATACATATACACATATGTGTATATAT A	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(370): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	276	0.0036	377	c.-18 others(396): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCT CTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCT CCCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCC CTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCT C	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(370): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGGAGGGAGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGG CGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGG CGTGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAG GGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATG GGGGGAGGGAGGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0292 a0002c0006t0001g0292	1	314	0.0032	377	c.309 others(396): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATC CGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCCGCCACCC CTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCCACCACCCCCTCCTTTCC CCGCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCC TCCCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCA C	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TCF3_chr19_1604292_1657615	1627981	C C	CAGGGGGT others(370): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCG GGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0010 a0001c0005t0004g0010	1	352	0.0028	377	c.299 others(392): Show c.299-556_299-555insCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCG CCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECTA_chr11_121096243_121196490	121185744	G G	GAGTAGGG others(370): Show GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAGTGCTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18952.hp1 NA18977.hp1 others(2): Show HG03017.hp1 NA18952.hp1 NA18977.hp1 NA18984.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0147 a0001c0003t0002g0169 others(2): Show a0001c0003t0002g0041 a0001c0003t0002g0147 a0001c0003t0002g0169 a0001c0003t0002g0284 a0001c0003t0002g0294	5	348	0.0144	377	c.600 others(396): Show c.6000-2087_6000-2086insGTAGGGAAAGCAGATGTTGAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAA TGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAG TAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATG TTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTT A	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(370): Show GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0296 a0001c0003t0001g0296	1	392	0.0026	377	c.228 others(396): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG T	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181496	C C	CTCTCCTC others(370): Show CTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTC TCTCCTCTCTCTCCCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCT CTGTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCCCCTCTCTCTCCCCTCTCTCTCCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCTCCTCTCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	54	0.0185	377	c.803 others(394): Show c.803-1203_803-1202insTCTCCTCTCTCTCCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCCCCTCTCTCTCCTCTC TCTCTCCTCTCTCTCCTCTCTCTGTCCTCTCTCTCTCCTCTCTCCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCCCTCTCTCTCCCCTC TCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCCCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(370): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATAAAATTTCTGG GGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTG ATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAG GTTGATGTAATTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	2	408	0.0049	377	c.-41 others(388): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGT TGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATAT AATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAATAAT TTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGG GGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATA TAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(370): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT AATATATTATATATACATTATATATATAATATATTATATATACATTATAT ATATTATATATTATATATACATTATATATATTATATATTATATATACATT ATATATATTATATATTATATATACATTATATATATTATATATTATATATA CATTATATATATTATATATTATATATACATTATATATATATTATATATTA TATATACATTATATATATATTATATATTATATATACATTATATATATTAT ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	224	0.0045	377	c.102 others(396): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATATAATGTATA TATAATATATAATATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATTATATATATAATGTATATATAATATA TTATATATATAATGTATATATAATATATATATATATAATGTATATATAAT A	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930625	G G	GAGGCCGG others(370): Show GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATT ATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	466	0.0022	377	c.49 others(388): Show c.4965_*4966insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCC TAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCC GGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCC TCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCC TGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4744		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930741	C C	CGGGGTTA others(370): Show CGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	466	0.0022	377	c.48 others(388): Show c.4849_*4850insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4628		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780552	G G	GTATATTA others(370): Show GTATATTATATTATATAGTACATAATATAGTATATTATATTATATAGTAC ATAATATAGTATATTATATTATATAGTACATAATATAGTATATTATATTA TATAGTACATAATATAGTATATTATATTATATAGTACATAATATAGTATA TTATATTATATAGTACATAATATAGTATATTATATTATATAGTACATAAT ATAGTATATTATATTATATAGTACATAATATAGTATATTATATTATATAG TACATAATATAGTATATTATATTATATAGTACATAATATAGTATATTATA TTATATAGTACATAATATAGTATATTATATTATATAGTACATAATATAGT ATATTATATTATATAGTACATAATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	118	0.0085	377	c.44- others(394): Show c.44-14602_44-14601insATATATTATGTACTATATAATATAATAT ACTATATTATGTACTATATAATATAATATACTATATTATGTACTATATAA TATAATATACTATATTATGTACTATATAATATAATATACTATATTATGTA CTATATAATATAATATACTATATTATGTACTATATAATATAATATACTAT ATTATGTACTATATAATATAATATACTATATTATGTACTATATAATATAA TATACTATATTATGTACTATATAATATAATATACTATATTATGTACTATA TAATATAATATACTATATTATGTACTATATAATATAATATACTATATTAT GTACTATATAATATAATATACTATATTATGTACTATATAATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRPM7_chr15_50552158_50691797	50564251	A A	AATAAAAT others(370): Show AATAAAATAAAATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAA AATAACATAAAATAACATAAAATAACATAACATAAAATAACATAACATAA AATAACATAACATAAAATAACATAACATAAAATAACATAACATAAAATAA CATAACATAAAATAAAATAAAATAAAATAAAATAAAAAATAAAATAAAAT AAAATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACAT AACATAAAATAACATAAAATAACATAAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18982.hp1 NA18993.hp2 others(1): Show NA18947.hp1 NA18982.hp1 NA18993.hp2 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0057 a0002c0003t0003 a0002c0003t0057	a0002c0003t0003g0276 a0002c0003t0003g0291 a0002c0003t0003g0310 others(1): Show a0002c0003t0003g0276 a0002c0003t0003g0291 a0002c0003t0003g0310 a0002c0003t0057g0277	4	352	0.0114	377	c.546 others(396): Show c.5468-2444_5468-2443insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATT TTATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTATGTTA TGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTA TTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATTTTATGTTA TTTTATGTTATTTTATGTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATTTTATTTTA T	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(370): Show CACCACACACACCACACACCCCACACACCCCACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCACACACCACACACACCC CACACACACCACACCCCACACACACCACACACCCCCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACCCCATACACACCACACA CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCCCACACACCACACACCCCACACACACCACCCCCACCACACCCCACAC ACCCCACACACACCCACACACACCCACACCACACCACCCACACCCCACAC ACACCACACAAACCACACACACCACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	338	0.0030	377	c.35 others(396): Show c.35+21583_*35+21584insACCACACACACCACACACCCCACACA CCCCACACCCCACACACACCACACAAACCACACACCCTACACACCCCACA CACACCACACACCACACACACCCCACACACACCACACCCCACACACACCA CACACCCCCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCATACACACCACACACCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACACAC ACCACCCCCACCACACCCCACACACCCCACACACACCCACACACACCCAC ACCACACCACCCACACCCCACACACACCACACAAACCACACACACCACAC A	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917075	G G	GTGGGGCT others(370): Show GTGGGGCTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0004 a0010c0048t0004	a0010c0048t0004g0213 a0010c0048t0004g0213	1	344	0.0029	377	c.218 others(392): Show c.2182+34_2182+35insCGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(370): Show GCGCGGGAAGTTCATGTGTACTCAGGCTGACCCCCACCCCCGGCGTGGGA AGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCATG TTGTACTCAGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACTC AGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGGA CCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCC CCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCGG GAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTCA TGTTATACTCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0115 a0115	a0115c0100 a0115c0100	a0115c0100t0016 a0115c0100t0016	a0115c0100t0016g0112 a0115c0100t0016g0112	1	400	0.0025	377	c.152 others(394): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTGTACTCAGGCTG ACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCCA CCCCCGCGCGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCCACG CGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAAG TTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTT ATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCG CTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCC ACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
VCX3B_chrX_8459830_8471510	8466909	A A	AGGGAGGG others(370): Show AGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0089 a0005c0089	a0005c0089t0027 a0005c0089t0027	a0005c0089t0027g0039 a0005c0089t0027g0039	1	271	0.0037	377	c.52 others(386): Show c.526_*527insGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159129908	G G	GTCAGGTG others(370): Show GTCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGCGGG GACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCT GCGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTG GCCTCTGGGGGGGACAGGGTCAGGTGACCAGCTTCACACTCTGTTCCCTC AAACTGGCCTCTGGGGGGGACAGGGTCAGGTGACCAGCTTCACACTCTGT TCCCTCAAACTGGCCTCTGGCGGGGACAGGGCCAGGTGACCAGCTTCACA CTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGTCAGGTGACCAGC TTCACACTCTGTTCCCTCAAACTGGCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp1 HG02809.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0006t0012 a0001c0002t0008 a0001c0006t0012	a0001c0002t0008g0149 a0001c0006t0012g0148 a0001c0002t0008g0149 a0001c0006t0012g0148	2	336	0.0060	377	c.151 others(396): Show c.151+12537_151+12538insAGGCCAGTTTGAGGGAACAGAGTGTG AAGCTGGTCACCTGACCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAG AGTGTGAAGCTGGTCACCTGGCCCTGTCCCCGCCAGAGGCCAGTTTGAGG GAACAGAGTGTGAAGCTGGTCACCTGACCCTGTCCCCCCCAGAGGCCAGT TTGAGGGAACAGAGTGTGAAGCTGGTCACCTGACCCTGTCCCCCCCAGAG GCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCC GCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTG TCCCCGCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTG A	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(370): Show CATATATATCATATATATGATACATGTATCATATATATGATACATGTATC ATATATATGATACATGTATCATATATATGATACATGTATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCATATATATGATACATATATATC ATATATATGATACATATATATCATATATATGATACATATATATCATATAT ATGATACATATATATCATATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	340	0.0029	377	c.856 others(394): Show c.856+1989_856+1990insATCATATATATGATACATGTATCATATA TATGATACATGTATCATATATATGATACATGTATCATATATATGATACAT GTATCATATATATGATACATATATATCATATATATGATACATATATATCA TATATATGATACATATATATCATATATATGATACATATATATCATATATA TGATACATATATATCATATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCATATATATGATACATATAT ATCATATATATGATACATATATATCATATATATGATACATATATATCATA TATATGATACATATATATCATATATATGATACATATATATCATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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