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
LTBP4_chr19_40596369_40634818	40625316	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18984.hp1 HG00738.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0117 a0001c0025t0001g0124 a0001c0001t0001g0117 a0001c0025t0001g0124	2	37	0.0541	27	c.383 others(44): Show c.3833-540_3833-539insATATATATATATATATATATATATATT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTBP4_chr19_40596369_40634818	40625316	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	36	0.0278	27	c.383 others(44): Show c.3833-540_3833-539insATATATATATATATATATATATATTTT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LTN1_chr21_28923144_28997877	28927499	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG02717.hp2 HG02976.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0005 a0001c0004 a0004c0005	a0001c0004t0001 a0004c0005t0001 a0001c0004t0001 a0004c0005t0001	a0001c0004t0001g0016 a0004c0005t0001g0078 a0001c0004t0001g0016 a0004c0005t0001g0078	2	262	0.0076	27	c.29 others(38): Show c.2948_*2949insATATATATATATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		644		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0074 a0004c0005t0001g0074	1	94	0.0106	27	c.29 others(38): Show c.2946_*2947insAAAAAAATATATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0272 a0001c0004t0001g0272	1	94	0.0106	27	c.29 others(38): Show c.2946_*2947insAAAAAAAAAAATATATATATATATATA	LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding		642		chr21	TogoVar
LUC7L2_chr7_139354894_139428454	139363976	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	94	0.0106	27	c.61+ others(42): Show c.61+3655_61+3681dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L2_chr7_139354894_139428454	139399449	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	15	0.0667	27	c.255 others(42): Show c.255+764_255+790dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L_chr16_183990_234449	188349	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	67	0.0149	27	c.84 others(36): Show c.848_*849insTTTTTTTTTTTTTTTTTTTTTTTTTTT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		640		chr16	TogoVar
LURAP1L_chr9_12770020_12828060	12788192	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0010 a0003c0009t0010	a0003c0009t0010g0321 a0003c0009t0010g0321	1	414	0.0024	27	c.312 others(46): Show c.312+12167_312+12168insGAAAGAAAGAAAGAAAGAAAGAAAGA A	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
LUZP1_chr1_23079030_23173856	23117477	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0009 a0008c0008t0009	a0008c0008t0009g0170 a0008c0008t0009g0170	1	179	0.0056	27	c.-22 others(46): Show c.-225-8351_-225-8350insAGAGAGAGAGAGAGAGAGAGAGAGAG A	LUZP1	ENSG00000169641.15	transcript	ENST00000302291.9	protein_coding	1/3			chr1	TogoVar
LUZP2_chr11_24492053_25087638	24531039	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02523.hp2 others(6): Show HG01106.hp2 HG01884.hp1 HG02523.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03834.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0003t0019 a0002c0002t0001 a0003c0004t0035	a0001c0001t0003g0031 a0001c0001t0003g0095 a0001c0001t0006g0051 others(6): Show a0001c0001t0003g0031 a0001c0001t0003g0095 a0001c0001t0006g0051 a0001c0001t0008g0015 a0001c0001t0016g0088 a0001c0001t0021g0093 a0001c0003t0019g0096 a0002c0002t0001g0023 a0003c0004t0035g0070	9	86	0.1047	27	c.62+ others(44): Show c.62+33760_62+33761insATTATTATTATTATTATTATTATTATT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24561816	T T	TATAATAA others(20): Show TATAATAATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0048 a0001c0003t0007g0077 a0001c0001t0002g0048 a0001c0003t0007g0077	2	75	0.0267	27	c.62+ others(44): Show c.62+64525_62+64526insAATAATAATAATAATAATAATAATAAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24786671	T T	TGTATATT others(20): Show TGTATATTATGTATTTATATATAAATAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	116	0.0086	27	c.396 others(46): Show c.396+23389_396+23390insGGTATATTATGTATTTATATATAAAT A	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24786698	T T	TGTATATT others(20): Show TGTATATTATGTATTTATATATAAATAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01071.hp2 others(67): Show HG00423.hp2 HG00621.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18981.hp2 NA19030.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0004c0005 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0013 a0001c0003t0015 a0001c0003t0019 a0001c0003t0032 a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0007t0028 a0004c0005t0002 a0005c0006t0029	a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 others(67): Show a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0065 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0084 a0001c0001t0003g0095 a0001c0001t0003g0114 a0001c0001t0004g0060 a0001c0001t0004g0078 a0001c0001t0004g0085 a0001c0001t0004g0105 a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0005g0101 a0001c0001t0006g0086 a0001c0001t0007g0035 a0001c0001t0007g0047 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0011g0038 a0001c0001t0012g0082 a0001c0001t0017g0018 a0001c0001t0017g0071 a0001c0001t0021g0093 a0001c0001t0036g0110 a0001c0001t0037g0090 a0001c0001t0038g0034 a0001c0003t0004g0004 a0001c0003t0004g0050 a0001c0003t0006g0094 a0001c0003t0007g0077 a0001c0003t0013g0046 a0001c0003t0013g0052 a0001c0003t0013g0111 a0001c0003t0015g0069 a0001c0003t0015g0091 a0001c0003t0019g0096 a0001c0003t0032g0056 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0045 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0092 a0002c0002t0009g0104 a0002c0002t0009g0116 a0002c0002t0010g0005 a0002c0002t0010g0043 a0002c0002t0010g0079 a0002c0002t0022g0017 a0002c0002t0023g0022 a0002c0002t0024g0089 a0002c0002t0025g0072 a0002c0002t0027g0100 a0002c0007t0028g0068 a0004c0005t0002g0087 a0005c0006t0029g0058	70	114	0.6140	27	c.396 others(46): Show c.396+23412_396+23413insAATAGGTATATTATGTATTTATATAT A	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25040343	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03471.hp2 NA18906.hp1 HG02129.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0084 a0001c0001t0004g0060 a0001c0001t0004g0075 a0001c0001t0003g0084 a0001c0001t0004g0060 a0001c0001t0004g0075	3	4	0.7500	27	c.766 others(44): Show c.766-9675_766-9674insTTTTTTTTTTTTTTTTTTTTTTTTTTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6E_chr8_143013529_143027409	143015075	T T	TGAGGAGG others(20): Show TGAGGAGGAGGAGGGAGTCCTGTGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	376	0.0027	27	c.-35 others(38): Show c.-3569_-3568insGAGGAGGAGGAGGGAGTCCTGTGTGAG	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3453		chr8	TogoVar
LY75_chr2_159798355_159909756	159850791	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0086 a0007c0007t0002g0086	1	245	0.0041	27	c.288 others(44): Show c.2884-325_2884-324insTATATATATATATATATATATATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	21/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874577	C C	CATATTTT others(20): Show CATATTTTGTAAATATATATAAAGATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01361.hp1 others(14): Show HG00741.hp2 HG01261.hp2 HG01361.hp1 HG02258.hp2 HG02717.hp2 HG02818.hp1 HG03130.hp2 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0004 a0007 a0009 others(3): Show a0004 a0007 a0009 a0011 a0018 a0019	a0004c0005 a0004c0010 a0007c0051 others(4): Show a0004c0005 a0004c0010 a0007c0051 a0009c0012 a0011c0014 a0018c0020 a0019c0019	a0004c0005t0001 a0004c0005t0006 a0004c0010t0001 others(5): Show a0004c0005t0001 a0004c0005t0006 a0004c0010t0001 a0007c0051t0002 a0009c0012t0001 a0011c0014t0002 a0018c0020t0001 a0019c0019t0005	a0004c0005t0001g0143 a0004c0005t0001g0144 a0004c0005t0001g0145 others(13): Show a0004c0005t0001g0143 a0004c0005t0001g0144 a0004c0005t0001g0145 a0004c0005t0001g0148 a0004c0005t0001g0149 a0004c0005t0001g0214 a0004c0005t0006g0152 a0004c0010t0001g0134 a0004c0010t0001g0156 a0007c0051t0002g0157 a0009c0012t0001g0155 a0011c0014t0002g0135 a0018c0020t0001g0136 a0018c0020t0001g0244 a0019c0019t0005g0002 a0019c0019t0005g0008	17	305	0.0557	27	c.197 others(44): Show c.1974+866_1974+867insATATCTTTATATATATTTACAAAATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874760	A A	ATATGTAA others(20): Show ATATGTAAATATATATATTTTGTAAATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0218 a0009c0012t0001g0243 a0009c0012t0001g0218 a0009c0012t0001g0243	2	328	0.0061	27	c.197 others(44): Show c.1974+683_1974+684insAATTTACAAAATATATATATTTACATA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LYN_chr8_55874835_56019169	55887575	T T	TATTATAT others(20): Show TATTATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	52	0.0192	27	c.-6+ others(42): Show c.-6+7473_-6+7474insTTATATACACACACACACACACACACA	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD6B_chr2_149033699_149220262	149120383	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	57	0.0175	27	c.-66 others(46): Show c.-66-10499_-66-10498insATATATATATATATATTTTTTTTTTT T	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYRM4_chr6_5103419_5265950	5118094	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0271 a0002c0002t0005g0271	1	63	0.0159	27	c.208 others(44): Show c.208-8604_208-8603insAAATATATATATATATATATATATATA	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM7_chr5_131165944_131210428	131181440	G G	GTATATAT others(20): Show GTATATATATATAAAACATATATATGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0045 a0001c0001t0053g0045	1	267	0.0037	27	c.92- others(40): Show c.92-778_92-752dupTAAAACATATATATGTATATATATATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG02004.hp2 others(4): Show HG01168.hp1 HG01168.hp2 HG02004.hp2 HG02083.hp2 HG02976.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0011 a0001c0001t0018g0114 a0001c0001t0018g0011 a0001c0001t0018g0114	7	41	0.1707	27	c.64 others(36): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTT	LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3	643		chr1	TogoVar
LYST_chr1_235656041_235871906	235778122	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0115 a0002c0007t0001g0115	1	234	0.0043	27	c.521 others(44): Show c.5215-815_5215-814insTATATATATATATATATATATATATAT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	16/52			chr1	TogoVar
LZTR1_chr22_20977297_21004032	20985483	C C	CGTGTGAA others(20): Show CGTGTGAATAGGGGTTCTGGAGGCTGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01243.hp2 others(19): Show HG00733.hp2 HG01168.hp1 HG01243.hp2 HG01261.hp2 HG01891.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0033 a0001c0002t0001 a0001c0002t0032 a0001c0003t0001 a0001c0005t0006 a0001c0007t0013	a0001c0001t0001g0338 a0001c0001t0002g0331 a0001c0001t0002g0341 others(13): Show a0001c0001t0001g0338 a0001c0001t0002g0331 a0001c0001t0002g0341 a0001c0001t0004g0050 a0001c0001t0004g0337 a0001c0001t0006g0339 a0001c0001t0033g0342 a0001c0002t0001g0329 a0001c0002t0032g0343 a0001c0003t0001g0015 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0332 a0001c0003t0001g0340 a0001c0005t0006g0330 a0001c0007t0013g0053	22	444	0.0495	27	c.264 others(42): Show c.264-334_264-333insGGGGTGTGAATAGGGGTTCTGGAGGCT	LZTR1	ENSG00000099949.22	transcript	ENST00000646124.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr22	TogoVar
M1AP_chr2_74552883_74653330	74561235	G G	GAGGAGGA others(20): Show GAGGAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 HG03516.hp2 HG01891.hp2 HG03471.hp1 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0030 a0002c0005t0009g0031 a0002c0005t0009g0032 a0002c0005t0009g0030 a0002c0005t0009g0031 a0002c0005t0009g0032	3	246	0.0122	27	c.128 others(44): Show c.1282-945_1282-944insTCTCCTCCTCCTCCTTCTCCTCCTCCT	M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10			chr2	TogoVar
MAB21L4_chr2_240881048_240901156	240883694	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	247	0.0040	27	c.33 others(38): Show c.3375_*3376insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MAB21L4	ENSG00000172478.18	transcript	ENST00000388934.5	protein_coding		2353		chr2	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0237 a0006c0005t0001g0237	1	91	0.0110	27	c.158 others(48): Show c.15816+4539_15816+4540insAAAAAAAAAAAAATATATATATAT ATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0235 a0006c0005t0001g0235	1	91	0.0110	27	c.158 others(48): Show c.15816+4539_15816+4540insAAAAAAAAAAATATATATATATAT ATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0240 a0006c0005t0001g0240	1	91	0.0110	27	c.158 others(48): Show c.15816+4539_15816+4540insAAAAAAAAATATATATATATATAT ATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477071	A A	ATATACAC others(20): Show ATATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	235	0.0043	27	c.219 others(48): Show c.21959-2723_21959-2722insCACACACATATATACACTTAGTGT ATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477073	A A	ATATACAC others(20): Show ATATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19240.hp2 HG02257.hp2 NA19240.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0001 a0011c0013t0001 a0001c0001t0001 a0011c0013t0001	a0001c0001t0001g0051 a0011c0013t0001g0078 a0001c0001t0001g0051 a0011c0013t0001g0078	2	179	0.0112	27	c.219 others(48): Show c.21959-2721_21959-2720insCACACACATATATACACTTAGTGT ATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477077	A A	ATATACAC others(20): Show ATATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03471.hp1 others(2): Show HG02976.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0214 a0005c0009t0003g0215 a0005c0009t0003g0216 others(2): Show a0005c0009t0003g0214 a0005c0009t0003g0215 a0005c0009t0003g0216 a0005c0009t0003g0217 a0005c0009t0003g0218	5	231	0.0216	27	c.219 others(48): Show c.21959-2717_21959-2716insCACACACATATATACACTTAGTGT ATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACROD2_chr20_13990516_16058197	14862125	A A	ATAATATA others(20): Show ATAATATATATAAATATATATTATACAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG02257.hp2 others(9): Show HG00738.hp2 HG01168.hp2 HG02257.hp2 HG02559.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 NA18970.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0003g0001 a0001c0001t0009g0005 a0001c0001t0011g0009 a0001c0001t0012g0020 a0002c0002t0001g0018 a0002c0002t0003g0024 a0002c0002t0007g0013 a0002c0002t0008g0023 a0002c0002t0010g0007	12	21	0.5714	27	c.418 others(48): Show c.418+177166_418+177167insTAATATATATAAATATATATTATA CAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17			chr20	TogoVar
MACROD2_chr20_13990516_16058197	15772101	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	19	0.0526	27	c.646 others(46): Show c.646-90643_646-90642insAAAAAAAAAAAAATATATATATATAT A	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1839317	T T	TCCTGCCT others(20): Show TCCTGCCTGGCAGGAAAGCGTCCTGCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	150	0.0067	27	c.199 others(48): Show c.1999-23116_1999-23090dupGGGCAGGACGCTTTCCTGCCAGGC AGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1839363	G G	GTCCTGCC others(20): Show GTCCTGCCCCCTGCCTGGCAGGAAAGCA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0099	1	262	0.0038	27	c.199 others(48): Show c.1999-23162_1999-23136dupTGCTTTCCTGCCAGGCAGGGGGCA GGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1897167	G G	GGCTGAAT others(20): Show GGCTGAATCAGACAGGCAGCGGCTCACC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(94): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18954.hp2 NA18967.hp2 NA18999.hp2 NA19030.hp2 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0002c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0013t0001 a0002c0005t0002 a0003c0014t0001	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 others(94): Show a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0007g0143 a0001c0001t0009g0247 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0002g0083 a0001c0003t0007g0145 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180 a0001c0013t0001g0077 a0002c0005t0002g0121 a0003c0014t0001g0067	97	260	0.3731	27	c.199 others(46): Show c.1998+1006_1998+1032dupGGTGAGCCGCTGCCTGTCTGATTCAG C	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1924219	G G	GCCACTAA others(20): Show GCCACTAAGCTTGGTGTAGAAAGCACAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0194 a0004c0008t0001g0194	1	262	0.0038	27	c.180 others(48): Show c.1807+12441_1807+12467dupATGTGCTTTCTACACCAAGCTTAG TGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1924240	A A	AGCACATC others(20): Show AGCACATCACCACAGGAGTCCTTCTCGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	262	0.0038	27	c.180 others(48): Show c.1807+12420_1807+12446dupGCGAGAAGGACTCCTGTGGTGATG TGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929834	C C	CCACTGCC others(20): Show CCACTGCCACGTCCCCTCGCCCCGTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02922.hp1 others(5): Show HG01081.hp1 HG01891.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0223 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254	8	253	0.0316	27	c.180 others(46): Show c.1807+6852_1807+6853insTGGACGGGGCGAGGGGACGTGGCAGT G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929939	G G	GTCCCCAC others(20): Show GTCCCCACTGCCACGTCCCCTCGCCCCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	214	0.0047	27	c.180 others(46): Show c.1807+6747_1807+6748insTGGGGCGAGGGGACGTGGCAGTGGGG A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929963	C C	CCCCGTCC others(20): Show CCCCGTCCCCACTGCCACGTCCCCTCAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03540.hp1 HG01255.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0001t0001g0255 a0001c0001t0002g0166	2	262	0.0076	27	c.180 others(46): Show c.1807+6697_1807+6723dupATGAGGGGACGTGGCAGTGGGGACGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930298	C C	CTACAGCC others(20): Show CTACAGCCACGTCCCACCACCACGTCCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	260	0.0038	27	c.180 others(46): Show c.1807+6388_1807+6389insTGGACGTGGTGGTGGGACGTGGCTGT A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930350	C C	CCCCACTG others(20): Show CCCCACTGCCACGTCCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0120 a0002c0005t0001g0120	1	241	0.0041	27	c.180 others(46): Show c.1807+6336_1807+6337insACGGGGCGAGGGGGACGTGGCAGTGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930350	C C	CCCCCACT others(20): Show CCCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02896.hp2 HG02897.hp2 others(8): Show HG01081.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG06807.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0081 a0001c0001t0001g0172 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0081 a0001c0001t0001g0172 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0010t0001g0084	11	251	0.0438	27	c.180 others(46): Show c.1807+6336_1807+6337insACGGGGCGAGGGGACGTGGCAGTGGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930370	C C	CATCCCGT others(20): Show CATCCCGTCCCCACTGCCACGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	262	0.0038	27	c.180 others(46): Show c.1807+6316_1807+6317insCAGGGGACGTGGCAGTGGGGACGGGA T	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930378	C C	CCCCACTG others(20): Show CCCCACTGCCACGTCCCCATCGCCCCGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0264 a0002c0002t0010g0264	1	258	0.0039	27	c.180 others(46): Show c.1807+6308_1807+6309insACGGGGCGATGGGGACGTGGCAGTGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930381	C C	CTACAGCC others(20): Show CTACAGCCACGTCCCACCACCACGTCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	256	0.0039	27	c.180 others(46): Show c.1807+6305_1807+6306insTGGACGTGGTGGTGGGACGTGGCTGT A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar

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