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
HCN2_chr19_584881_622159	602941	C C	CAGGCGCC others(308): Show CAGGCGCCTGGGGGGAAGGCACCGGCCTGAGGTGTGGGCACCCTCGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGGAAGGCA CCGGCCTGAGCTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCGGGGC TGGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACC CTCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGG GAAGGCACCAGCCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGC CCGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0080 a0001c0002t0004g0080	1	408	0.0025	315	c.633 others(330): Show c.633-573_633-572insGTGTGGGCACCCTCGCCCCCCAGGGAGGAA TGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGGAAGGCACCGGCCTGAGC TGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCGGGGCTGGTCCTGCAG GCGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCA GGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAG CCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCCCGGGGCTGGT CCCATAGGCGCCTGGGGGGAAGGCACCGGCCTGAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC9_chr7_18490749_19007416	18662370	C C	CAAGAAAT others(308): Show CAAGAAATTTTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02809.hp2 others(1): Show HG01255.hp2 HG02109.hp2 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0035 a0001c0001t0052 others(1): Show a0001c0001t0004 a0001c0001t0035 a0001c0001t0052 a0001c0004t0014	a0001c0001t0004g0139 a0001c0001t0035g0054 a0001c0001t0052g0055 others(1): Show a0001c0001t0004g0139 a0001c0001t0035g0054 a0001c0001t0052g0055 a0001c0004t0014g0058	4	156	0.0256	315	c.146 others(334): Show c.1468-3831_1468-3830insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGACCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAATTTTAT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(308): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19002.hp2 HG01123.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0003 a0001c0001t0012g0038 a0001c0001t0001g0003 a0001c0001t0012g0038	2	354	0.0057	315	c.234 others(330): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HERC4_chr10_67916905_68080283	68044216	T T	TAAAAATA others(308): Show TAAAAATAGCAAATCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATTCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAACACAAAAAA TTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0329 a0001c0002t0005g0329	1	360	0.0028	315	c.386 others(330): Show c.386+187_386+188insTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTTTTT TAGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTTGATTTGCTATTTTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	4/24			chr10	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(308): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTCATATATAC ATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACAT GTTATATTACATGTATATATACATGTTATATTACATGTATATATACATGT TATATTACATGTATATATACATGTTATATTACATGTATATATACATGTTA TATTACATGTATATATACATGTTATATTACATGTATATATACATGTTATA TTACATGTATATATACATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0072 a0001c0013t0001g0072	1	344	0.0029	315	c.31 others(326): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTCATATATACATGTTATATTACATGTATATATACATGTTATATTA CATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACA TGTATATATACATGTTATATTACATGTATATATACATGTTATATTACATG TATATATACATGTTATATTACATGTATATATACATGTTATATTACATGTA TATATACATGTTATATTACATGTATATATACATGTTATATTACATGTATA TATACATGTTATATTACATGTATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12167688	T T	TATATACA others(308): Show TATATACATATATACATATATGTGTATTATATACATATATACATATATGT GTATAATATATACATATATACATATATGTGTATAATATATACATATATAC ATATATGTGTATAATATATACATATATACATATATGTGTATAATATATAC ATATATACATATATGTGTATAATATATACATATATACATATATGTGTATA ATATATACATATATACATATATGTGTATAATATATACATATATACATATA TGTGTATAATATATACATATATACATATATGTGTATAATATATACATATA TACATATATGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03516.hp2 HG02258.hp1 HG03139.hp2 HG03516.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0076 a0006c0009t0001g0199 a0006c0009t0001g0316 a0006c0009t0001g0076 a0006c0009t0001g0199 a0006c0009t0001g0316	3	344	0.0087	315	c.32 others(326): Show c.3227_*3228insATATACATATATACATATATGTGTATTATATACA TATATACATATATGTGTATAATATATACATATATACATATATGTGTATAA TATATACATATATACATATATGTGTATAATATATACATATATACATATAT GTGTATAATATATACATATATACATATATGTGTATAATATATACATATAT ACATATATGTGTATAATATATACATATATACATATATGTGTATAATATAT ACATATATACATATATGTGTATAATATATACATATATACATATATGTGTA TAATATATACATATATACATATATGTGTATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2690		chr6	TogoVar
HK1_chr10_69273496_69406882	69332390	T T	TTTCTTTC others(308): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	280	0.0036	315	c.76- others(332): Show c.76-11435_76-11434insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69332390	T T	TTTCTTTC others(308): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	296	0.0034	315	c.64- others(332): Show c.64-11435_64-11434insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(308): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02083.hp2 NA18942.hp2 others(9): Show HG00544.hp1 HG02083.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp2 NA18964.hp2 NA18978.hp1 NA19058.hp1 NA19070.hp1 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	348	0.0345	315	c.53 others(326): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HPCAL1_chr2_10297904_10432604	10399426	A A	ACCACCAC others(308): Show ACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCATCATCACCACCATCATCACCACCATCACCACCACCA TCACCACCACCATCATCACCACCATCACCACCACCACCATCGCCGCCACC ACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0026	1	314	0.0032	315	c.-25 others(332): Show c.-25+2515_-25+2516insTCACCACCGCCACCACCACCACCATCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCATCACCACCA CCATCACCACCACCATCACCACCATCACCACCGCCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCAC CATCATCACCACCATCACCACCACCATCATCACCACCATCATCACCACCA TCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACC ATCGCCGCCACCACCACCACCATCGCCGCCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPSE2_chr10_98452077_99240852	99155793	C C	CAAAAAAT others(308): Show CAAAAAATTAATGAATCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	142	0.0070	315	c.449 others(334): Show c.449-11395_449-11394insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGATTCATTAATTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRH1_chr3_11149493_11268557	11162491	T T	TGTCGGCC others(308): Show TGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAGAACTACC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02486.hp1 others(6): Show HG01099.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02896.hp2 HG03130.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0143 a0001c0001t0004g0147 a0001c0001t0005g0141 others(6): Show a0001c0001t0002g0143 a0001c0001t0004g0147 a0001c0001t0005g0141 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0149	9	352	0.0256	315	c.-36 others(332): Show c.-36+7940_-36+7941insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGAACTACCGTC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11162491	T T	TGTCGGCC others(308): Show TGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAGAACTACC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG02630.hp2 others(5): Show HG01106.hp2 HG01515.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG03486.hp1 HG03486.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0007c0007t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0038 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0003g0044 a0001c0001t0013g0036 a0007c0007t0001g0041	8	352	0.0227	315	c.-36 others(332): Show c.-36+7940_-36+7941insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGAACTACCGTC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HS3ST2_chr16_22809162_22921338	22834677	T T	TAAAAAGT others(308): Show TAAAAAGTATCCATTTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0263 a0006c0013t0002g0263	1	350	0.0029	315	c.485 others(334): Show c.485+19601_485+19602insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAGTATCCATTTTTTG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
ICA1_chr7_8108184_8267167	8152683	T T	TCACCACT others(308): Show TCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCAT CACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTA CCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACC ACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	274	0.0037	315	c.804 others(332): Show c.804+4432_804+4433insGTGAAGGAGATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGATGGT GGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFT172_chr2_27439377_27494743	27439616	T T	TCAGGTGC others(308): Show TCAGGTGCATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	224	0.0045	315	c.48 others(326): Show c.4815_*4816insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG GTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAGAAAAATGCACCTG	IFT172	ENSG00000138002.16	transcript	ENST00000260570.8	protein_coding		4760		chr2	TogoVar
IKBKG_chrX_154542620_154570033	154558031	T T	TCAGTGTC others(308): Show TCAGTGTCCACTCTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCG CTCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	246	0.0041	315	c.400 others(330): Show c.400-487_400-486insTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT TTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGAT CTCCGCTCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAGTGTCCACTCTT	IKBKG	ENSG00000269335.7	transcript	ENST00000594239.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
IRAG1_chr11_10568095_10698755	10615935	T T	TAAAAAAA others(308): Show TAAAAAAAAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0200	1	278	0.0036	315	c.144 others(334): Show c.1448-6085_1448-6084insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTACTTTTTTTT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
JAK2_chr9_4980272_5134948	5103302	C C	CAAAGATC others(308): Show CAAAGATCAAAAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0053 a0001c0003t0044g0053	1	364	0.0028	315	c.305 others(336): Show c.3059+12405_3059+12406insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGATCAAAAGAG	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132160346	A A	AGCCTCTT others(308): Show AGCCTCTTCCTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGT GGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGC TGGGGAGCCTCTTCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGAT GCTGGGGGGGGTCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTG ATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGT GTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCT GTGTGATGCTGGGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0049 a0002c0005t0001g0049	1	158	0.0063	315	c.222 others(334): Show c.2221-2836_2221-2835insCCTCTTCCTGTGTGATGCTGGTGGGG GTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGG GAGCCTCTTCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTG GGGGGGGTCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGC TGGGTGGGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGA TGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGT GATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCND2_chr7_120268175_120755337	120463395	T T	TTAAATTT others(308): Show TTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01981.hp1 HG02622.hp2 others(2): Show HG01192.hp1 HG01981.hp1 HG02622.hp2 HG02809.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0043	5	80	0.0625	315	c.111 others(338): Show c.1115+187657_1115+187658insTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAATTTTT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(308): Show TTAATGCATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTATATATTAAAATATATACATATATTTATATATAAAATATATACATATA TTTATATATATATAAATATATACATATATTTATATATATATAAATATATA CATATATTTATATATATAAATATATACATATATTTATATATATAAATATA TACATATATTTATATATATAAATATATACATATATTTATATATATAAATA TATACATATATTTATATATATAAATATATACATATATTTATATATATAAA TATATACATATATTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	164	0.0061	315	c.211 others(336): Show c.2113-34249_2113-34248insTAAATATATGTATATATTTATATA TATAAATATATGTATATATTTATATATATAAATATATGTATATATTTATA TATATAAATATATGTATATATTTATATATATAAATATATGTATATATTTA TATATATAAATATATGTATATATTTATATATATAAATATATGTATATATT TATATATATATAAATATATGTATATATTTATATATATATAAATATATGTA TATATTTTATATATAAATATATGTATATATTTTAATATATAAATATATGC ATATATTTATGTATTAAATATATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37685517	T T	TAAAAATA others(308): Show TAAAAATACAAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20129.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0164 a0001c0001t0163 a0001c0001t0164	a0001c0001t0163g0056 a0001c0001t0164g0171 a0001c0001t0163g0056 a0001c0001t0164g0171	2	198	0.0101	315	c.946 others(334): Show c.946+28693_946+28694insTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCCGGCCTAATTTTTTGTATTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215111931	G G	GGGCCTCA others(308): Show GGGCCTCAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0108 a0001c0001t0075g0108	1	260	0.0039	315	c.358 others(334): Show c.358-12685_358-12684insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCAAATCTTTTTT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209562	A A	ATATATAA others(308): Show ATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATATAA AATATATAAAATAGATATTATATATAAAATATATATAATATATATATAAA ATAGATATTATATATAAAATATATATTATATATTATATAAAATATATATT ATATATTATATAATATATAATATATATTATATATATTATATATTATATAA TATATAATATATATTATATATATTATATATTATATAATATATAATATATA TTATATATATTATATATTATATATTAAATATATATTATATATATATAATA TATATTAAATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA20805.hp2 NA18980.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0027 a0001c0001t0009 a0001c0001t0027	a0001c0001t0009g0179 a0001c0001t0027g0030 a0001c0001t0009g0179 a0001c0001t0027g0030	2	260	0.0077	315	c.963 others(334): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATATAATATATATTAAATATATATTATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437094	T T	TATATACA others(308): Show TATATACATAAATATATTTATATATAAATATATATTTTTATATATATTTA TGTATATATTTATATATAAATATATATTTATATATTTATATATATTTATA TATATACATAATATATATTTATATATATTTATATATAAATATATATTTAT ATATTTATATATATTTATGTATATTTATATACATAAATATATATTTATAT ATATTTATATATATTTATATACATAAATATATATTTATATATATTTATAT ACATAAATATATATTTATATATATTTATATACATAAATATATATTTATAT ATATTTATATACATAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	136	0.0074	315	c.639 others(332): Show c.639-7338_639-7337insTTATGTATATAAATATATATAAATATAT ATTTATGTATATAAATATATATAAATATATATTTATGTATATAAATATAT ATAAATATATATTTATGTATATAAATATATATAAATATATATAAATATAT ATTTATGTATATAAATATACATAAATATATATAAATATATAAATATATAT TTATATATAAATATATATAAATATATATTATGTATATATATAAATATATA TAAATATATAAATATATATTTATATATAAATATATACATAAATATATATA AAAATATATATTTATATATAAATATATTTATGTATAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF14_chr1_200546500_200625751	200607057	T T	TAAAAAAC others(308): Show TAAAAAACTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCG GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCTACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00673.hp1 others(35): Show HG00438.hp2 HG00621.hp1 HG00673.hp1 HG01069.hp2 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01981.hp2 HG02040.hp1 HG02074.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG03017.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18944.hp1 NA18960.hp1 NA18974.hp1 NA18986.hp2 NA19003.hp2 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19080.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0016 a0001c0001 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026 a0001c0001t0032 a0001c0001t0049 a0011c0016t0003	a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 others(35): Show a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0211 a0001c0001t0013g0318 a0001c0001t0013g0319 a0001c0001t0013g0321 a0001c0001t0022g0320 a0001c0001t0022g0327 a0001c0001t0022g0328 a0001c0001t0026g0199 a0001c0001t0032g0039 a0001c0001t0049g0366 a0011c0016t0003g0169	38	390	0.0974	315	c.155 others(332): Show c.1555-260_1555-259insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGCAGTTTTTT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding	5/29			chr1	TogoVar
KIF25_chr6_167992671_168050091	167997183	T T	TGGGGTCG others(308): Show TGGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	375	0.0027	315	c.-22 others(326): Show c.-2286_-2285insGGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		487		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(308): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	375	0.0027	315	c.-22 others(326): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGCGACGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(308): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGC GGGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0092 a0001c0003t0051g0092	1	375	0.0027	315	c.317 others(332): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL41_chr2_169504702_169531258	169523993	T T	TAGACCCT others(308): Show TAGACCCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02615.hp1 others(4): Show HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02723.hp2 HG03098.hp2 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0233	7	422	0.0166	315	c.171 others(334): Show c.1710-1582_1710-1581insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCACAGACCCTCTT	KLHL41	ENSG00000239474.7	transcript	ENST00000284669.2	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
KREMEN1_chr22_29068035_29151820	29120221	A A	AACAGGGA others(308): Show AACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAATGGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAG AGGTGATGAAGGAAAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0109 a0001c0002t0024g0109	1	368	0.0027	315	c.353 others(332): Show c.353-1135_353-1134insCAGGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGA TGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGAT GATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRTCAP3_chr2_27437381_27449297	27439616	T T	TCAGGTGC others(308): Show TCAGGTGCATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	315	c.-27 others(326): Show c.-2797_-2796insCAGGTGCATTTTTCTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCA	KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding		2764		chr2	TogoVar
L1TD1_chr1_62189849_62217328	62192159	T T	TAATTTTT others(308): Show TAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG04204.hp1 HG03490.hp1 HG04204.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0011 a0006c0011t0011	a0006c0011t0011g0354 a0006c0011t0011g0356 a0006c0011t0011g0354 a0006c0011t0011g0356	2	414	0.0048	315	c.-29 others(326): Show c.-2967_-2966insAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		2689		chr1	TogoVar
LDAF1_chr16_21153674_21185616	21177331	A A	AGTGATAG others(308): Show AGTGATAGTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TTCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0119 a0001c0001t0003g0120	2	390	0.0051	315	c.405 others(332): Show c.405-2131_405-2130insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTTCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGTGATAGTTTCTT	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LINGO1_chr15_77608027_77637912	77620235	T T	TAAAAATT others(308): Show TAAAAATTGAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGTGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02559.hp1 HG03471.hp2 HG01346.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0050 a0001c0001t0016g0181 a0001c0001t0001g0050 a0001c0001t0016g0181	3	386	0.0078	315	c.7-4 others(328): Show c.7-4336_7-4335insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACACCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGGTTCAATTTTT	LINGO1	ENSG00000169783.13	transcript	ENST00000355300.7	protein_coding	1/1			chr15	TogoVar
LMBRD1_chr6_69669010_69802010	69739487	T T	TAAAAAGG others(308): Show TAAAAAGGAACTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAAGTCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAG CCGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 NA19043.hp1 HG02145.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062	3	348	0.0086	315	c.563 others(332): Show c.563-1473_563-1472insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCT GTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGACTT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGTAGTTCCTTTTT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	6/15			chr6	TogoVar
LMNTD1_chr12_25471082_25558283	25524657	T T	TAAGAATG others(308): Show TAAGAATGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCG GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178	3	388	0.0077	315	c.798 others(332): Show c.798+1441_798+1442insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAGACATTCTT	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	6/9			chr12	TogoVar
LRBA_chr4_150259435_151020284	150372750	G G	GCAGTAAG others(308): Show GCAGTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCG CTGTTTAGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGAC CTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0003 a0003c0042t0003	a0003c0042t0003g0180 a0003c0042t0003g0180	1	180	0.0056	315	c.719 others(336): Show c.7195-22592_7195-22591insGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACTTACTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRIT2_chr10_84215571_84230544	84223487	G G	GTTAATTG others(308): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp1 HG01981.hp2 others(24): Show HG00609.hp2 HG01123.hp1 HG01981.hp2 HG02056.hp1 HG02129.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03239.hp1 NA18940.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18966.hp2 NA18977.hp2 NA18980.hp2 NA18993.hp2 NA19009.hp1 NA19054.hp1 NA19056.hp1 NA19064.hp1 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0003 a0004c0004t0004g0003	27	418	0.0646	315	c.893 others(330): Show c.893-808_893-807insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAATACCCAATTAA	LRIT2	ENSG00000204033.10	transcript	ENST00000372113.7	protein_coding	2/2			chr10	TogoVar
LRP2_chr2_169122109_169367534	169179812	T T	TAAAAATC others(308): Show TAAAAATCTATTGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(43): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01070.hp2 HG01074.hp2 HG01515.hp2 HG02080.hp2 HG02109.hp1 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 NA18941.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0008 a0009 a0011 a0016 a0026 a0040 a0043 a0046 a0049 a0053 a0057 a0067	a0001c0001 a0001c0005 a0001c0009 others(26): Show a0001c0001 a0001c0005 a0001c0009 a0001c0048 a0001c0068 a0001c0106 a0002c0003 a0002c0126 a0002c0141 a0002c0153 a0002c0174 a0003c0063 a0003c0110 a0005c0014 a0008c0051 a0008c0052 a0008c0070 a0009c0012 a0011c0170 a0016c0037 a0016c0178 a0026c0030 a0040c0181 a0043c0097 a0046c0053 a0049c0116 a0053c0133 a0057c0071 a0067c0177	a0001c0001t0001 a0001c0005t0002 a0001c0009t0001 others(31): Show a0001c0001t0001 a0001c0005t0002 a0001c0009t0001 a0001c0048t0002 a0001c0068t0002 a0001c0106t0001 a0002c0003t0001 a0002c0003t0003 a0002c0126t0008 a0002c0141t0001 a0002c0153t0002 a0002c0174t0001 a0003c0063t0009 a0003c0110t0005 a0005c0014t0001 a0005c0014t0007 a0005c0014t0009 a0008c0051t0003 a0008c0052t0001 a0008c0070t0001 a0009c0012t0002 a0009c0012t0008 a0009c0012t0011 a0011c0170t0011 a0016c0037t0001 a0016c0178t0001 a0026c0030t0020 a0040c0181t0002 a0043c0097t0008 a0046c0053t0003 a0049c0116t0007 a0053c0133t0001 a0057c0071t0001 a0067c0177t0001	a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0105 others(43): Show a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0005t0002g0006 a0001c0005t0002g0045 a0001c0005t0002g0058 a0001c0005t0002g0189 a0001c0009t0001g0024 a0001c0009t0001g0161 a0001c0048t0002g0041 a0001c0068t0002g0085 a0001c0106t0001g0055 a0002c0003t0001g0179 a0002c0003t0001g0185 a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0003g0198 a0002c0126t0008g0234 a0002c0141t0001g0160 a0002c0153t0002g0184 a0002c0174t0001g0193 a0003c0063t0009g0204 a0003c0110t0005g0220 a0005c0014t0001g0027 a0005c0014t0007g0139 a0005c0014t0009g0028 a0008c0051t0003g0061 a0008c0052t0001g0216 a0008c0070t0001g0233 a0009c0012t0002g0053 a0009c0012t0008g0213 a0009c0012t0011g0237 a0011c0170t0011g0191 a0016c0037t0001g0094 a0016c0037t0001g0115 a0016c0178t0001g0088 a0026c0030t0020g0086 a0040c0181t0002g0247 a0043c0097t0008g0071 a0046c0053t0003g0096 a0049c0116t0007g0147 a0053c0133t0001g0232 a0057c0071t0001g0156 a0067c0177t0001g0087	46	250	0.1840	315	c.101 others(336): Show c.10169+1635_10169+1636insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCATGAGCCACCGCGCCCGGCCGCAATAGATTTTT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	52/78			chr2	TogoVar
LRP8_chr1_53237364_53333070	53283997	G G	GCTTAACT others(308): Show GCTTAACTTACCTACTACATACCCGGGCCGTCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGGCGCCTTACT TACCTACTACATACCCGGGCCGCCTTACTTACCTACTACATTCCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATTACCCGGGCCGCT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0066 a0002c0003t0003g0066	1	296	0.0034	315	c.368 others(332): Show c.368-3283_368-3282insAGCGGCCCGGGTAATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAG GTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGAATG TAGTAGGTAAGTAAGGCGGCCCGGGTATGTAGTAGGTAAGTAAGGCGCCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGACGGCCCGGGTATGTAGTAGGTAAGTTAAG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRPPRC_chr2_43881224_44000989	43988545	G G	GAAAAGAG others(308): Show GAAAAGAGACGCCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0324 a0001c0023t0001g0324	1	358	0.0028	315	c.150 others(332): Show c.150-6112_150-6111insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGTGGCGTCTCTTTT	LRPPRC	ENSG00000138095.20	transcript	ENST00000260665.12	protein_coding	1/37			chr2	TogoVar
LRRC4C_chr11_40109209_41464652	40472454	T T	TAAAGAAG others(308): Show TAAAGAAGTGTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	48	0.0208	315	c.-26 others(338): Show c.-269-152734_-269-152733insTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTAAACACTTCTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	3/6			chr11	TogoVar
LRRK2_chr12_40219997_40374285	40279207	T T	TGCCAATA others(308): Show TGCCAATAGTTTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0024 a0002c0001t0001g0024	1	382	0.0026	315	c.224 others(332): Show c.2241+964_2241+965insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAATAGTTTACTTTTT	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	18/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LSS_chr21_46183446_46233774	46201197	G G	GTAGAGCC others(308): Show GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0228 a0003c0003t0001g0228	1	358	0.0028	315	c.167 others(334): Show c.1670+4638_1670+4639insTCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCA GGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201242	G G	GTAGAGCC others(308): Show GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp2 HG02886.hp1 others(2): Show HG01167.hp2 HG02280.hp2 HG02886.hp1 HG03098.hp1 NA18522.hp1	a0006 a0008 a0006 a0008	a0006c0011 a0008c0010 a0006c0011 a0008c0010	a0006c0011t0001 a0008c0010t0014 a0006c0011t0001 a0008c0010t0014	a0006c0011t0001g0216 a0006c0011t0001g0217 a0006c0011t0001g0218 others(2): Show a0006c0011t0001g0216 a0006c0011t0001g0217 a0006c0011t0001g0218 a0008c0010t0014g0267 a0008c0010t0014g0268	5	358	0.0140	315	c.167 others(334): Show c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG TGATCCAGGCTCTATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCA GGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201242	G G	GTAGAGCC others(308): Show GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG GATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCA CGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0014 a0008c0010t0014	a0008c0010t0014g0266 a0008c0010t0014g0266	1	358	0.0028	315	c.167 others(334): Show c.1670+4593_1670+4594insTCCTCAGGGCTTCATGACCTGTCCTC CCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC CCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCA GGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201373	G G	GAGGGTAG others(308): Show GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAG CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGCCTGGATCAC GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG AGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGAC AGGTCATGAAGCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02055.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0206 a0001c0004t0012g0207 a0001c0004t0012g0208 others(1): Show a0001c0004t0012g0206 a0001c0004t0012g0207 a0001c0004t0012g0208 a0001c0004t0012g0209	4	358	0.0112	315	c.167 others(334): Show c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG CTCTATCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTG AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGC TTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LSS_chr21_46183446_46233774	46201373	G G	GAGGGTAG others(308): Show GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGATAGAGCCTGG ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG AGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGAC AGGTCATGAAGCCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01123.hp1 others(17): Show HG00558.hp1 HG00609.hp1 HG01123.hp1 HG02129.hp2 HG02148.hp2 HG03239.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 NA18944.hp2 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18978.hp2 NA18986.hp1 NA19056.hp2 NA19074.hp1 NA20300.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0015 a0003c0003t0018 others(1): Show a0003c0003t0001 a0003c0003t0015 a0003c0003t0018 a0003c0003t0027	a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0117 others(15): Show a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0117 a0003c0003t0001g0221 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0227 a0003c0003t0001g0230 a0003c0003t0001g0232 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0239 a0003c0003t0001g0242 a0003c0003t0015g0226 a0003c0003t0015g0231 a0003c0003t0018g0041 a0003c0003t0027g0234	20	358	0.0559	315	c.167 others(334): Show c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA TCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTC AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGC TTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar

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