Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KBTBD3_chr11_106046098_106082347	106078218	T T	TATGTCTT others(347): Show TATGTCTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0133 a0001c0001t0012g0133	1	366	0.0027	354	c.-11 others(365): Show c.-1121_-1120insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGATAAAGACAT		KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding					872		chr11	TogoVar
KCNH5_chr14_62694464_63050458	62759565	T T	TAGGGTAT others(347): Show TAGGGTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGCCTG GAGGGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCTTCCTGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	224	0.0045	354	c.201 others(375): Show c.2019+20162_2019+20163insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGA GATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCT TGCAGTGAGCGGAGATCGCGCCACTGCCCTCCAGGCTGGGTGACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATATACCCT		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10						chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(347): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATA TATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATATATATCTCCAAGAGGAGATATA TATATATATATATATATCTCCTCTTGGAGATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATA TATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAG GAGAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	232	0.0043	354	c.-67 others(373): Show c.-67-48586_-67-48585insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATATATCTCCAAGAGGAGATATATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTT GGAGATATATATATATATATATATATCTCCAAGAGGAGATATATATATAT ATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATAT ATATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCT CCAAGAGGAGATATATATATATATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TCTCCAAA others(347): Show TCTCCAAAAGGAGATATATATATATATATATCTCCAAAAGGAGATATATA TATATATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAAAG GAGATATATATATATATATATCTCCAAAAGGAGATATATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATA TATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATA TATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGG ATATATATATATATATATATATATATATATATATATATATATATCTCCAA GAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	232	0.0043	354	c.-67 others(373): Show c.-67-48557_-67-48556insCTCCAAAAGGAGATATATATATATAT ATATCTCCAAAAGGAGATATATATATATATATATCTCCAAAAGGAGATAT ATATATATATATATCTCCAAAAGGAGATATATATATATATATATCTCCAA AAGGAGATATATATATATATATATCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGAGATATAT ATATATATATATCTCCAAGAGGGATATATATATATATATATATATATATA TATATATATATATATATCTCCAAGAGGG		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCTD21_chr11_78166249_78193626	78179983	C C	CAAAATGC others(347): Show CAAAATGCAGATCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	430	0.0023	354	c.-29 others(371): Show c.-29-5401_-29-5400insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCTGATCTGCATTTT		KCTD21	ENSG00000188997.8	transcript	ENST00000340067.4	protein_coding	1/1						chr11	TogoVar
KEAP1_chr19_10481125_10508356	10483683	G G	GGCCTCTT others(347): Show GGCCTCTTTCACCCAGAGGCCCACAAGAGGGTGCTGTCTGCCTTTTAGAT GGAACTTCCTGACTCTGCCCTGAGGGTATTCATCCCAGAGCTACACCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA GGCACATGCCACCACAGCCAGCTAATTTTTGTATTTTTAGTAGAGACAGT GTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATC CGCCTGCCTCAGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCCC ACCTGGCCCGGAGAATGCTACTTTTAAAAATAGGAACAAGCCAGGAGCTC ATCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0088 a0005c0012t0001g0088	1	392	0.0026	354	c.29 others(365): Show c.2968_*2969insTGGATGAGCTCCTGGCTTGTTCCTATTTTTAAAA GTAGCATTCTCCGGGCCAGGTGGGGTGGCTCACGCCTGTAATCGCAGCAC TTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCA GCCTGGCCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAG CTGGCTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATCGCTTGAACCCGGGAGGTGTAGCTCTGGGATGAATACCCTC AGGGCAGAGTCAGGAAGTTCCATCTAAAAGGCAGACAGCACCCTCTTGTG GGCCTCTGGGTGAAAGAGGC		KEAP1	ENSG00000079999.14	transcript	ENST00000171111.10	protein_coding					2441		chr19	TogoVar
KIAA1549L_chr11_33371108_33679102	33403300	C C	CACGCAGA others(347): Show CACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACACA CAGGGACACACACAGAGACTCAGGGACACACACACACAGACACACAGACA TAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACACA TGGACACACACATGCAGACACGCGGACAGACACACAGACACAGAGACACA CACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACA CATATGCAGACACACAGAAACACACAGACACACATAGACACATGCACACA CACATGCAGACACACACAGACACACGCACACACATGCAGACAGACAGACA CACGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp1 HG02145.hp1 others(24): Show HG01074.hp1 HG01496.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1	a0001 a0004 a0009 others(3): Show a0001 a0004 a0009 a0015 a0016 a0017	a0001c0008 a0001c0009 a0001c0011 others(18): Show a0001c0008 a0001c0009 a0001c0011 a0001c0020 a0001c0021 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0049 a0001c0050 a0001c0052 a0001c0053 a0001c0055 a0001c0058 a0001c0077 a0004c0048 a0009c0038 a0015c0045 a0016c0054 a0017c0043	a0001c0008t0001 a0001c0008t0003 a0001c0009t0011 others(22): Show a0001c0008t0001 a0001c0008t0003 a0001c0009t0011 a0001c0009t0030 a0001c0011t0061 a0001c0011t0064 a0001c0020t0001 a0001c0020t0003 a0001c0021t0011 a0001c0039t0006 a0001c0040t0056 a0001c0041t0010 a0001c0042t0067 a0001c0049t0071 a0001c0050t0009 a0001c0052t0074 a0001c0053t0053 a0001c0055t0060 a0001c0058t0031 a0001c0077t0014 a0004c0048t0010 a0009c0038t0001 a0015c0045t0001 a0016c0054t0001 a0017c0043t0019	a0001c0008t0001g0083 a0001c0008t0003g0004 a0001c0008t0003g0074 others(24): Show a0001c0008t0001g0083 a0001c0008t0003g0004 a0001c0008t0003g0074 a0001c0008t0003g0077 a0001c0009t0011g0091 a0001c0009t0030g0224 a0001c0011t0061g0072 a0001c0011t0064g0080 a0001c0020t0001g0100 a0001c0020t0003g0069 a0001c0021t0011g0090 a0001c0039t0006g0085 a0001c0040t0056g0092 a0001c0041t0010g0086 a0001c0042t0067g0073 a0001c0049t0071g0075 a0001c0050t0009g0079 a0001c0052t0074g0084 a0001c0053t0053g0087 a0001c0055t0060g0088 a0001c0058t0031g0101 a0001c0077t0014g0006 a0004c0048t0010g0078 a0009c0038t0001g0076 a0015c0045t0001g0081 a0016c0054t0001g0082 a0017c0043t0019g0089	27	226	0.1195	354	c.238 others(373): Show c.238+26411_238+26412insACGCAGACACACAGACACGCAGACAC AGATACACATACAGACATACACACAGGGACACACACAGAGACTCAGGGAC ACACACACACAGACACACAGACATAGACATATGCAGACACACACAGACAC ACACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGAC AGACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACAC AGAGACCCAGGGACACACACACACATATGCAGACACACAGAAACACACAG ACACACATAGACACATGCACACACACATGCAGACACACACAGACACACGC ACACACATGCAGACAGACAGACACACGG		KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20						chr11	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(347): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp1 HG02615.hp2 HG00639.hp1 HG02280.hp1 HG02615.hp2	a0008 a0010 a0008 a0010	a0008c0128 a0010c0033 a0008c0128 a0010c0033	a0008c0128t0001 a0010c0033t0001 a0008c0128t0001 a0010c0033t0001	a0008c0128t0001g0377 a0010c0033t0001g0359 a0010c0033t0001g0367 a0008c0128t0001g0377 a0010c0033t0001g0359 a0010c0033t0001g0367	3	414	0.0073	354	c.480 others(369): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATTATCTATATCTATAATATAGATAA TATTATCTATATTATAGATATAGATAATATCTATATCTATATTATAGATA TTATCTATAATATAGATAATATCTATATTATAGATATTATCTATAATATA GATAATATCTATATTATAGATATTATCTATAATATAGATATAGATAATAT CTATATCTATAATATAGATAATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(347): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATATTTATATATTTATATATATTTATATATATTTATATA TATATTTATATATTTATATATATTTATATTTATATATTTATATATATTTA TATTTCTATTTATTTATATATATTTATATTTATTTATATTTATATATTAA TATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG00738.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0075 a0001c0002t0007g0077 a0001c0002t0007g0075 a0001c0002t0007g0077	2	242	0.0083	354	c.174 others(373): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATATTTATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT TTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTATAT TTATTTATATTTATATATTAATATATAT		KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL18_chr3_47277944_47351816	47316707	G G	GTATGTGT others(347): Show GTATGTGTGTGTATATATACATATATACGTATATATGTGTATATATACAC ATATATACGTATATATGTGTATATATACACATATATACATATACATATAT ACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGTAT ATGTGTGTATATACACATATATACGTATATATGTATATGTGTGTATATAC ACATATATACGTATATATGTATATGTGTGTATATACACATATATACGTAT ATATGTATATGTGTGTATATACACATATATACGTATATATGTATATGTGT GTATATACACATATATACGTATATATGTATATGTATATATGTGTATATAT ACACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	338	0.0030	354	c.130 others(371): Show c.130-2943_130-2942insGTGTGTGTATATATACATATATACGTAT ATATGTGTATATATACACATATATACGTATATATGTGTATATATACACAT ATATACATATACATATATACGTATATATGTATATGTGTGTATATATACAT ATATACGTATATATGTATATGTGTGTATATACACATATATACGTATATAT GTATATGTGTGTATATACACATATATACGTATATATGTATATGTGTGTAT ATACACATATATACGTATATATGTATATGTGTGTATATACACATATATAC GTATATATGTATATGTGTGTATATACACATATATACGTATATATGTATAT GTATATATGTGTATATATACACATAT		KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNDC1_chr10_133155219_133231412	133217519	G G	GAGACCAG others(347): Show GAGACCAGCCTGGCTGACATGGTGAAACCCCATCTCTACTAAAAATACAA AAATTATCACGCCTGTGATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGA TCATGAGGTCAGGAGTTCAAGACCAGCCTGGCTGACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTATCACGCCTGTGATCCCAGCACTTTGG GAGTCTGAGGCAGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGC TGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCACGCCT GTGATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGA GTTCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp1 HG02818.hp2 others(14): Show HG00733.hp1 HG02145.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0034 a0006c0010 others(2): Show a0003c0011 a0003c0034 a0006c0010 a0006c0019 a0007c0009	a0003c0011t0001 a0003c0034t0011 a0006c0010t0001 others(3): Show a0003c0011t0001 a0003c0034t0011 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(14): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0034t0011g0313 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0104	17	332	0.0512	354	c.467 others(373): Show c.4678-1228_4678-1227insGCCGAGGCAGGCAGATCATGAGGTCA GGAGTTCAAGACCAGCCTGGCTGACATGGTGAAACCCCATCTCTACTAAA AATACAAAAATTATCACGCCTGTGATCCCAGCACTTTGGGAGTCTGAGGC AGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCTGACATGGTGA AACCCCATCTCTACTAAAAATACAAAAATTATCACGCCTGTGATCCCAGC ACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGTTCAAGACCA GCCTGGCTGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAT CACGCCTGTGATCCCAGCACTTTGGGAG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
LARP1B_chr4_128056312_128216988	128197863	T T	TAAGAAAA others(347): Show TAAGAAAACGATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0281 a0004c0005t0005g0281	1	336	0.0030	354	c.200 others(373): Show c.2004-1563_2004-1562insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAACGATTG		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr4	TogoVar
LDAH_chr2_20679031_20828101	20738374	A A	ATATATAT others(347): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTAT ATATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	258	0.0039	354	c.703 others(371): Show c.703+1596_703+1597insAATATATAGGGAGGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATATA		LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6						chr2	TogoVar
LEPR_chr1_65415668_65646559	65589495	A A	ACAAGGTC others(347): Show ACAAGGTCACAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0150 a0003c0004t0018g0150	1	216	0.0046	354	c.495 others(371): Show c.495-3143_495-3142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGC GCCCGGCCAAGGTCACAAAATTTTTT		LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF1_chr16_848634_975984	896052	C C	CCCACACG others(347): Show CCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGGAGGGGTTGTGAG GCTCAGCCACCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGGAGG GGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCATGGTCCACAGACACG CCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGGTCC ACACACACGCCTCGGAGGGGTTGTGAGGCTCAGCCATCCACACGCAGGCT GCACGGTCCACAGACACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCAC ACGCAGGCTGCACGGTCCACACACACGCCTCGGAGGGGTTGTGAGGCTCA GCCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0282 a0001c0006t0002g0282	1	294	0.0034	354	c.664 others(371): Show c.664-2981_664-2980insATGGCTGAGCCTCACAACCCCTCCGAGG CGTGTGTGTGGACCGTGCAGCCTGCGTGTGGGTGGCTGAGCCTCACAACC CCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCGTGTGGATGGCTGAGC CTCACAACCCCTCCGAGGCGTGTGTGTGGACCGTGCAGCCTGCGTGTGGG TGGCTGAGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACCATGCAGCCT GCGTGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACC GTGCAGCCTGCGTGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGT CTGTGGACCGTGCAGCCTGCGTGTGG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LOC102723971_chr9_135609183_135624893	135620036	A A	ATCTCCCC others(347): Show ATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTG CCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCT CCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCC GTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTC CCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCT CCCCCTTCCCCCTCTACTCCCCCGTCTCCCCCTACTCCCCCGTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTC CCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	354	c.10 others(365): Show c.1084_*1085insTCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCGTCTCCCCCTAC TCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCC CTACTCCCCCGTCTCCCCCG		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					144		chr9	TogoVar
LRP1B_chr2_140226423_142136016	141547884	T T	TGTATCTT others(347): Show TGTATCTTCATATATATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGG CGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0013 a0001c0018t0002g0013	1	28	0.0357	354	c.206 others(373): Show c.206-67352_206-67351insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCCG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAAAATATATATGAAGATAC		LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90						chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(347): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	296	0.0034	354	c.368 others(371): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTGGC CCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(347): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0274 a0005c0013t0001g0274	1	296	0.0034	354	c.368 others(371): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTGGC CCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LYN_chr8_55874835_56019169	55900835	G G	GCTCTTGG others(347): Show GCTCTTGGAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCATCGCGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18992.hp2 NA18998.hp1 NA18980.hp1 NA18992.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0029g0130 a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0029g0130	3	288	0.0104	354	c.-6+ others(371): Show c.-6+20746_-6+20747insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCATCGCGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTCTTGGAAATCTT		LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(347): Show TGCCACGTCCCCCTCGCCCCGTCCCCTACTGCCACGTCCCACCACCACGT CCACACTGCCATGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCAC CCCGTCCCCACTGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCC TCGCCCCGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGT CCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGC CACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACA CTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATAC CCACC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	264	0.0038	354	c.180 others(373): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGTGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGACGTGGCA GTAGGGGACGGGGCGAGGGGGACGTGGC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(347): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCC CCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTGGCCC CATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCT GGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGT CCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCC ACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACA CTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCACTTACCCCATAC CCACC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	264	0.0038	354	c.180 others(373): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(347): Show TGCCACGTCCCCTCGCCCCGTCCCCTACTGCCACGTCCCACCACCACGTC CACACTGCCATGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCACC CCGTCCCCACTGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCCT CGCCCCGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGC CACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACA CTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATAC CCACC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	264	0.0038	354	c.180 others(373): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGG CGAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGCAGTGGGGAC GGGGTGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGTGG GGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGACGTGGC AGTAGGGGACGGGGCGAGGGGACGTGGC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(347): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAG GGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGGAGAGGGG GGAGGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGAGAGGGGAGAGGGGG GAGAGAGGGGGGAGAGAGGGGGGAGCGGGGAGAGAGGGGGGAGGGGGGAG AGAGGGGGAGGGGGGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGA GAGGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	163	0.0061	354	c.525 others(371): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCTCCCC TCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCC CGCTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCTCCCCTCTCTCCCCCC TCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCCCTCCCCCCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCTCTCCCCCCTCCCCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(347): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0075 a0075	a0075c0085 a0075c0085	a0075c0085t0001 a0075c0085t0001	a0075c0085t0001g0126 a0075c0085t0001g0126	1	292	0.0034	354	c.377 others(371): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MIA3_chr1_222613097_222673007	222645833	T T	TGTGTTGG others(347): Show TGTGTTGGTAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18943.hp1 NA18966.hp2 others(5): Show HG02056.hp2 NA18943.hp1 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18989.hp1 NA19004.hp1 NA19064.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0008 a0002c0001 a0005c0008	a0002c0001t0002 a0005c0008t0002 a0002c0001t0002 a0005c0008t0002	a0002c0001t0002g0007 a0002c0001t0002g0028 a0002c0001t0002g0145 others(1): Show a0002c0001t0002g0007 a0002c0001t0002g0028 a0002c0001t0002g0145 a0005c0008t0002g0028	8	370	0.0216	354	c.360 others(371): Show c.3609+164_3609+165insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGTGTTGGTAAATTCTT		MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding	7/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497707	G G	GGGGGGGG others(347): Show GGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCAGGGAGGGAGG TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGG GAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01261.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0099 a0001c0001t0019g0021 a0001c0001t0002g0099 a0001c0001t0019g0021	2	386	0.0052	354	c.-26 others(365): Show c.-2626_-2625insGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCC CGTCAGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCAGTCCGGGAGGGAAGT		MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding					2592		chr1	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(347): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGG TGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTG GGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0322 a0001c0001t0030g0322	1	382	0.0026	354	c.-10 others(365): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCC CACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCC ACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCC CCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCCC TCCAACACCCCCACTTCCCA		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding					868		chr7	TogoVar
MMP26_chr11_4699784_4997429	4729984	A A	ACAGCCCT others(347): Show ACAGCCCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19060.hp1 NA18950.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0002c0002t0001g0028 a0001c0001t0001g0025 a0002c0002t0001g0028	2	206	0.0097	354	c.-21 others(375): Show c.-217+24953_-217+24954insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCAGCCCTCATTTTT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH4_chr1_75791882_75918242	75885668	T T	TTATTATA others(347): Show TTATTATATATTATAATATATTATATATTATAATATATATTATATATTTT ATATTATAATATATATACCTGATATATTTAAGGTATTATATATAATACCT TATATATTATATATATAATACCTTATAAGGTATTATATATAATATTATAT ATTATATATAATATATATATTATATATAATATATAAATGTATATATTATA TATTATACATATATATTATATACATATATTATATATAATATATATTTTAT ATATTATATATGTATATATGTAATATATATAACCTTCACATTTATTTCAG TTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATATAAAG TATTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02647.hp2 others(6): Show HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0009c0011 a0003c0005 a0009c0011	a0003c0005t0001 a0009c0011t0001 a0003c0005t0001 a0009c0011t0001	a0003c0005t0001g0169 a0003c0005t0001g0170 a0003c0005t0001g0171 others(6): Show a0003c0005t0001g0169 a0003c0005t0001g0170 a0003c0005t0001g0171 a0003c0005t0001g0173 a0003c0005t0001g0174 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0178 a0009c0011t0001g0172	9	332	0.0271	354	c.210 others(373): Show c.2107+1850_2107+1851insTATATATTATAATATATTATATATTA TAATATATATTATATATTTTATATTATAATATATATACCTGATATATTTA AGGTATTATATATAATACCTTATATATTATATATATAATACCTTATAAGG TATTATATATAATATTATATATTATATATAATATATATATTATATATAAT ATATAAATGTATATATTATATATTATACATATATATTATATACATATATT ATATATAATATATATTTTATATATTATATATGTATATATGTAATATATAT AACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATATGT TATTTTGTGTATATATAAAGTATTATAT		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MUC17_chr7_101015081_101063859	101036881	A A	ATTCTGAG others(347): Show ATTCTGAGGCTAGCACCTTTTCAACAATTCCTGTTGACTCCAACACTCCT TTGACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTAC CAGCATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTA TGCCTGTCAGCACCACAATGGTGGCCAGTTCTGAAACAAGCACACTTTCA ACAACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAG TTCATCTCCTACAACTGCTGACGGTACCAGCATGCCAACCTCAACTTATA GTGAAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTG GTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 NA18946.hp1 NA18947.hp1 others(2): Show HG00621.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18962.hp2	a0006 a0006	a0006c0014 a0006c0053 a0006c0014 a0006c0053	a0006c0014t0003 a0006c0053t0003 a0006c0014t0003 a0006c0053t0003	a0006c0014t0003g0005 a0006c0014t0003g0114 a0006c0014t0003g0121 others(2): Show a0006c0014t0003g0005 a0006c0014t0003g0114 a0006c0014t0003g0121 a0006c0014t0003g0122 a0006c0053t0003g0005	5	366	0.0137	354	c.548 others(363): Show c.5481_5482insTTTTCAACAATTCCTGTTGACTCCAACACTCCTTTG ACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTACCAG CATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTATGC CTGTCAGCACCACAATGGTGGCCAGTTCTGAAACAAGCACACTTTCAACA ACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAGTTC ATCTCCTACAACTGCTGACGGTACCAGCATGCCAACCTCAACTTATAGTG AAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTGGTC AGTTCTGAGGCTAGCACC	p.Thr others(369): Show p.Thr1827_Leu1828insPheSerThrIleProValAspSerAsnThr ProLeuThrThrSerThrGluAlaSerSerProProProThrAlaGluGl yThrSerMetProThrSerThrProSerGluGlySerThrProLeuThrA rgMetProValSerThrThrMetValAlaSerSerGluThrSerThrLeu SerThrThrProAlaAspThrSerThrProValThrThrTyrSerGlnAl aSerSerSerProThrThrAlaAspGlyThrSerMetProThrSerThrT yrSerGluGlyGlyThrProLeuThrSerValProValSerThrThrPro ValValSerSerGluAlaSerThr	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	5537/14352	5482/13482	1828/4493		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101036881	A A	ATTCTGAG others(347): Show ATTCTGAGGCTAGCACCTTTTCAACAATTCCTGTTGACTCCAACACTCCT TTGACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTAC CAGCATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTA TGCCTGTCAGCACCACAATGGTGGCCAGTTCTGAAACGAGCACACTTTCA ACAACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAG TTCATCTCCTACAACTGCTGACGGTACCAGCATGCCAACCTCAACTTATA GTGAAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTG GTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp2 HG01928.hp1 HG02074.hp2 others(43): Show HG00423.hp2 HG01928.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02723.hp1 HG02738.hp1 HG03017.hp1 HG03098.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA19005.hp2 NA19010.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1	a0004 a0006 a0021 others(11): Show a0004 a0006 a0021 a0022 a0023 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0041 a0042	a0004c0004 a0004c0015 a0004c0030 others(16): Show a0004c0004 a0004c0015 a0004c0030 a0004c0048 a0006c0009 a0006c0029 a0006c0052 a0021c0032 a0022c0031 a0023c0027 a0032c0040 a0033c0044 a0034c0051 a0035c0050 a0036c0049 a0037c0046 a0038c0047 a0041c0054 a0042c0042	a0004c0004t0001 a0004c0004t0003 a0004c0015t0003 others(18): Show a0004c0004t0001 a0004c0004t0003 a0004c0015t0003 a0004c0030t0003 a0004c0048t0001 a0006c0009t0001 a0006c0009t0003 a0006c0029t0003 a0006c0052t0003 a0021c0032t0003 a0022c0031t0003 a0023c0027t0002 a0032c0040t0001 a0033c0044t0003 a0034c0051t0003 a0035c0050t0003 a0036c0049t0003 a0037c0046t0003 a0038c0047t0003 a0041c0054t0003 a0042c0042t0001	a0004c0004t0001g0123 a0004c0004t0003g0005 a0004c0004t0003g0008 others(40): Show a0004c0004t0001g0123 a0004c0004t0003g0005 a0004c0004t0003g0008 a0004c0004t0003g0025 a0004c0004t0003g0026 a0004c0004t0003g0124 a0004c0004t0003g0128 a0004c0004t0003g0133 a0004c0004t0003g0134 a0004c0004t0003g0169 a0004c0015t0003g0115 a0004c0015t0003g0117 a0004c0015t0003g0127 a0004c0015t0003g0130 a0004c0030t0003g0153 a0004c0030t0003g0154 a0004c0048t0001g0116 a0006c0009t0001g0161 a0006c0009t0003g0005 a0006c0009t0003g0027 a0006c0009t0003g0136 a0006c0009t0003g0140 a0006c0009t0003g0141 a0006c0009t0003g0142 a0006c0009t0003g0143 a0006c0029t0003g0027 a0006c0029t0003g0139 a0006c0052t0003g0135 a0021c0032t0003g0113 a0021c0032t0003g0120 a0022c0031t0003g0131 a0022c0031t0003g0132 a0023c0027t0002g0043 a0023c0027t0002g0044 a0032c0040t0001g0042 a0033c0044t0003g0119 a0034c0051t0003g0008 a0035c0050t0003g0129 a0036c0049t0003g0118 a0037c0046t0003g0112 a0038c0047t0003g0126 a0041c0054t0003g0026 a0042c0042t0001g0045	46	366	0.1257	354	c.548 others(363): Show c.5481_5482insTTTTCAACAATTCCTGTTGACTCCAACACTCCTTTG ACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTACCAG CATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTATGC CTGTCAGCACCACAATGGTGGCCAGTTCTGAAACGAGCACACTTTCAACA ACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAGTTC ATCTCCTACAACTGCTGACGGTACCAGCATGCCAACCTCAACTTATAGTG AAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTGGTC AGTTCTGAGGCTAGCACC	p.Thr others(369): Show p.Thr1827_Leu1828insPheSerThrIleProValAspSerAsnThr ProLeuThrThrSerThrGluAlaSerSerProProProThrAlaGluGl yThrSerMetProThrSerThrProSerGluGlySerThrProLeuThrA rgMetProValSerThrThrMetValAlaSerSerGluThrSerThrLeu SerThrThrProAlaAspThrSerThrProValThrThrTyrSerGlnAl aSerSerSerProThrThrAlaAspGlyThrSerMetProThrSerThrT yrSerGluGlyGlyThrProLeuThrSerValProValSerThrThrPro ValValSerSerGluAlaSerThr	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	5537/14352	5482/13482	1828/4493		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101036881	A A	ATTCTGAG others(347): Show ATTCTGAGGCTAGCACCTTTTCAACAATTCCTGTTGACTCCAACACTCCT TTGACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTAC CAGCATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTA TGCCTGTCAGCACCACAATGGTGGCCAGTTCTGAAACGAGCACACTTTCA ACAACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAG TTCATCTCCTACAACTGCTGACTGTACCAGCATGCCAACCTCAACTTATA GTGAAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTG GTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp2 HG03130.hp1 HG03195.hp1 HG02622.hp2 HG03130.hp1 HG03195.hp1	a0024 a0043 a0024 a0043	a0024c0026 a0043c0041 a0024c0026 a0043c0041	a0024c0026t0002 a0043c0041t0002 a0024c0026t0002 a0043c0041t0002	a0024c0026t0002g0102 a0024c0026t0002g0103 a0043c0041t0002g0283 a0024c0026t0002g0102 a0024c0026t0002g0103 a0043c0041t0002g0283	3	366	0.0082	354	c.548 others(363): Show c.5481_5482insTTTTCAACAATTCCTGTTGACTCCAACACTCCTTTG ACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTACCAG CATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTATGC CTGTCAGCACCACAATGGTGGCCAGTTCTGAAACGAGCACACTTTCAACA ACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAGTTC ATCTCCTACAACTGCTGACTGTACCAGCATGCCAACCTCAACTTATAGTG AAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTGGTC AGTTCTGAGGCTAGCACC	p.Thr others(369): Show p.Thr1827_Leu1828insPheSerThrIleProValAspSerAsnThr ProLeuThrThrSerThrGluAlaSerSerProProProThrAlaGluGl yThrSerMetProThrSerThrProSerGluGlySerThrProLeuThrA rgMetProValSerThrThrMetValAlaSerSerGluThrSerThrLeu SerThrThrProAlaAspThrSerThrProValThrThrTyrSerGlnAl aSerSerSerProThrThrAlaAspCysThrSerMetProThrSerThrT yrSerGluGlyGlyThrProLeuThrSerValProValSerThrThrPro ValValSerSerGluAlaSerThr	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	5537/14352	5482/13482	1828/4493		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101036885	T T	TGAGGCTA others(347): Show TGAGGCTAGCACCTTTTCAACAATTCCTGTTGACTCCAACACTCCTTTGA CCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTACCAGC ATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTATGCC TGTCAGCACCACAATGGTGGCCAGTTCTGAAACGAGCACACTTTCAACAA CTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAGTTCA TCTCCTACAACTGCTGACGGTACCAGCATGCCAACCTCAACTTATAGTGA AGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTGGTCA GTTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03942.hp1 HG04199.hp2 HG03942.hp1 HG04199.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0003 a0004c0028t0003	a0004c0028t0003g0125 a0004c0028t0003g0138 a0004c0028t0003g0125 a0004c0028t0003g0138	2	366	0.0055	354	c.548 others(363): Show c.5481_5482insTTTTCAACAATTCCTGTTGACTCCAACACTCCTTTG ACCACTTCTACTGAAGCCAGTTCACCTCCTCCCACTGCTGAAGGTACCAG CATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTAACACGTATGC CTGTCAGCACCACAATGGTGGCCAGTTCTGAAACGAGCACACTTTCAACA ACTCCTGCTGACACCAGCACACCTGTGACCACTTATTCTCAAGCCAGTTC ATCTCCTACAACTGCTGACGGTACCAGCATGCCAACCTCAACTTATAGTG AAGGAGGCACTCCACTAACAAGTGTGCCTGTCAGCACCACGCCGGTGGTC AGTTCCGAGGCTAGCACC	p.Thr others(369): Show p.Thr1827_Leu1828insPheSerThrIleProValAspSerAsnThr ProLeuThrThrSerThrGluAlaSerSerProProProThrAlaGluGl yThrSerMetProThrSerThrProSerGluGlySerThrProLeuThrA rgMetProValSerThrThrMetValAlaSerSerGluThrSerThrLeu SerThrThrProAlaAspThrSerThrProValThrThrTyrSerGlnAl aSerSerSerProThrThrAlaAspGlyThrSerMetProThrSerThrT yrSerGluGlyGlyThrProLeuThrSerValProValSerThrThrPro ValValSerSerGluAlaSerThr	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	3/13	5537/14352	5482/13482	1828/4493		INFO_REALIGN_3_PRIME	chr7	TogoVar
MYOZ2_chr4_119130832_119192789	119150496	T T	TAAAAATG others(347): Show TAAAAATGTGGGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	394	0.0025	354	c.77- others(367): Show c.77-360_77-359insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATGTGGGGAGCA		MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(347): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGCGGGAGGAGGAGGGAGGAGGGCGGGAGGAGGAGGGAGGAGGGCGGGA GGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGAGAGGAGG GAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGA AGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGA GGGAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0251 a0001c0011t0001g0251	1	348	0.0029	354	c.887 others(371): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCCTCC TCTCTCCTCCCTCCTCCTCCCTCCTCCTCCCGCCCTCCTCCCTCCTCCTC CCGCCCTCCTCCCTCCTCCTCCCGCCCTCCTCCCTCCCTCCTCCCGCCCT CCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCC TCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTC CCTCCTCCCTCCCTCTTCCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NBPF10_chr1_146059711_146149804	146109343	C C	CACACACA others(347): Show CACACACACACACATACACACACAGAGAGAGAGAACGAGCTCAGTGAATT GTCCAGGTGACACACTGATGAGGGAGTAACAAGACACTCTGAGTTAGTGC CCTCAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAAT TTTCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAATACAGT TTTTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGGA AGAAATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAATGTTA GTAGGAATAATTCAGGCTTGCACACACACACACACACACACACACACACA CACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18942.hp1 HG02559.hp1 NA18942.hp1	a0010 a0096 a0010 a0096	a0010c0009 a0096c0108 a0010c0009 a0096c0108	a0010c0009t0002 a0096c0108t0002 a0010c0009t0002 a0096c0108t0002	a0010c0009t0002g0124 a0096c0108t0002g0096 a0010c0009t0002g0124 a0096c0108t0002g0096	2	283	0.0071	354	c.450 others(371): Show c.4500-230_4500-229insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTTTCATT GCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAAC CTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGCGACTGCA TGGAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTTTTCAT GATCCCTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTCTTGTT ACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTCTCTCT CTCTGTGTGTGTATGTGTGTGTGTGT		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	35/89						chr1	TogoVar
NBPF10_chr1_146059711_146149804	146109343	C C	CACACACA others(347): Show CACACACACACATACACACACAGAGAGAGAGAACGAGCTCAGTGAATTGT CCAGGTGACACACTGATGAGGGAGTAACAAGACACTCTGAGTTAGTTCCC TCAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAATTT TCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAATACAGTTT TTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGGAAG AAATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAATGTTAGT AGGAATAATTCAGGCTTGCACACACACACACACACACACACACACACACA CACAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0106 a0106	a0106c0118 a0106c0118	a0106c0118t0002 a0106c0118t0002	a0106c0118t0002g0092 a0106c0118t0002g0092	1	283	0.0035	354	c.450 others(371): Show c.4500-230_4500-229insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTTTCA TTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTA ACCTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGCGACTG CATGGAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTTTTC ATGATCCCTGTATGCTGTGTGTCCTGAGGGAACTAACTCAGAGTGTCTTG TTACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTCTCT CTCTCTGTGTGTGTATGTGTGTGTGT		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	35/89						chr1	TogoVar
NCEH1_chr3_172625249_172716067	172690951	T T	TCTGTGGG others(347): Show TCTGTGGGGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19030.hp2 HG03453.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0010 a0003c0003t0009 a0001c0001t0010 a0003c0003t0009	a0001c0001t0010g0023 a0003c0003t0009g0053 a0001c0001t0010g0023 a0003c0003t0009g0053	2	332	0.0060	354	c.138 others(373): Show c.138+19895_138+19896insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATTTCCCCACAG		NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4						chr3	TogoVar
NEU4_chr2_241804193_241822413	241806645	A A	ACCCTCCC others(347): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	319	0.0031	354	c.-26 others(365): Show c.-2633_-2632insCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2547		chr2	TogoVar
NLRP14_chr11_7015479_7076526	7071557	T T	TAAGAATG others(347): Show TAAGAATGCAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	346	0.0029	354	c.24 others(363): Show c.249_*250insAAGAATGCAGGTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAG		NLRP14	ENSG00000158077.5	transcript	ENST00000299481.5	protein_coding					32		chr11	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(347): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGG GGGGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	356	0.0028	354	c.91+ others(367): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(347): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGG GGGGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	356	0.0028	354	c.91+ others(367): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(347): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGG GGGGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	356	0.0028	354	c.91+ others(367): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(347): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGG GGGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	356	0.0028	354	c.91+ others(367): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(347): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGTGTGGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	356	0.0028	354	c.91+ others(367): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGA GGGAGTCGGGGGTGGGGGTGGGGGTGTGGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(347): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCATGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0209 a0001c0003t0001g0209	1	324	0.0031	354	c.140 others(371): Show c.140+8514_140+8515insTGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535579	G G	GCACTCAG others(347): Show GCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGA GCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGG AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGG AGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGG GAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGG GGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGG GAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGGAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18954.hp2 HG01071.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0011 a0001c0012t0002 a0001c0001t0011 a0001c0012t0002	a0001c0001t0011g0115 a0001c0012t0002g0113 a0001c0001t0011g0115 a0001c0012t0002g0113	2	324	0.0062	354	c.140 others(371): Show c.140+8444_140+8445insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCC ATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(347): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCATGGTGGGTGGAGAGGGGAGCACTCAGGATCCC TCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCC CTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0101 a0001c0009t0002g0101	1	324	0.0031	354	c.140 others(371): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCATGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC GACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC CCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCT CTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCC CCGACCCACCCTGCACCCATTGCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(347): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCTC TCCCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCCTCC CCTTCCCCTTCCCCTCCCCTCCCCCCTTCCCCTTCCCCTCCCCTCCCCCT TCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCC CTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTC CCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0045 a0002c0003t0045	a0002c0003t0045g0093 a0002c0003t0045g0093	1	326	0.0031	354	c.433 others(371): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGGAGGGTGGGAGGG GAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar

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