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
COL4A1_chr13_110143963_110312157	110255845	G G	GAAGGGGG others(835): Show GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0002 a0003c0041t0002	a0003c0041t0002g0298 a0003c0041t0002g0298	1	208	0.0048	842	c.85- others(859): Show c.85-13112_85-13111insTCCCTTCCTGCCTTCCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(835): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp1 HG02572.hp2 HG03516.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0043 a0001c0001 a0011c0043	a0001c0001t0020 a0011c0043t0043 a0001c0001t0020 a0011c0043t0043	a0001c0001t0020g0196 a0011c0043t0043g0037 a0001c0001t0020g0196 a0011c0043t0043g0037	2	178	0.0112	842	c.925 others(857): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(835): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	325	0.0031	842	c.-42 others(853): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCG GGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(835): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	325	0.0031	842	c.-42 others(853): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCG GGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(835): Show ATATAATATAATTATATATAATATATAATATATAATTATATATAATATAT AATTATATATTATATATAATTATATATTATATATTATATATAATATATAA TTATATATAATATATATTATATATTATATATAATTATATATTATATATTA TATATAATATAATTATATATAATATATAATATATAATTATATATAATATA TAATATATATTATATATAATTATATATTATATATAATTATATATTATATA TAATATATAATTATATATTATATATAATATATAATTATATATAATATATA ATATATTATATATTATATATATTATATAAATATATAATATATTATATATA ATTATATAATATATTATATATAATATATAATTATATGTTATATATTATAT ATATTATATATTATATATATATTATATATATAATATATATTATATATTAA ATTATATATAATATATATTATATATATAATTTATATATATAAAATATATT ATATATTATATAAATATATATATTTTATATATATAAAATATATATTTTAT AATATATAATATAGAAATATATATTATATAATATATAATTATATATAATT ATATATTATATAATATATATTTCTATATTATATATTTATAATGTATAATA TATAAATATATTATAAATATATATTATATACTATATAATGCATTATAAAT ATATTATATTTATATATTATAAATATATTACATATTTATATATTATATAT ATAATATATATATTATATATTATAAATATATTTTATAAAATATAATATAT ATATTATATATTATATTTTATAAAATATAATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	92	0.0109	842	c.551 others(861): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATATATTATATATATAATATATAAATATGTAATATATTTATA ATATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATA TTTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATA TATATTATATAATATATAATTATATATAATTATATATTATATAATATATA TTTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATAT ATATTTATATAATATATAATATATTTTATATATATAAATTATATATATAA TATATATTATATATAATTTAATATATAATATATATTATATATATAATATA TATATAATATATAATATATATAATATATAACATATAATTATATATTATAT ATAATATATTATATAATTATATATAATATATTATATATTTATATAATATA TATAATATATAATATATTATATATTATATATAATTATATATTATATATAA TATATAATTATATATTATATATAATATATAATTATATATAATATATAATT ATATATAATATATATTATATATTATATATAATTATATATTATATATTATA TATAATTATATTATATATAATATATAATATATAATTATATATAATATATA ATATATATTATATATAATTATATATTATATATAATATATAATATATAATT ATATATAATATATAATTATATATTATATATAATTATATATTATATATTAT ATATAATTATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EXD3_chr9_137301896_137428162	137355478	A A	AGGAGGAG others(835): Show AGGAGGAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGG AGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGACGGAGGAAGG AGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGAAGGAGGACGGAG GAAGGAGGATGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAG GAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAG GATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGGAG GATGGAGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGG AAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGGATGGAGAAAGGAGGAAGGAGAAAGGGAGGAAGGAGA AAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGGAGGAAGGAGGAAAGAGG AAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGA AGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGAAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGA AAGGGAGGAAGGAGAAAGGAGGAAGGAGGGACGGAGGAAGGAGGAAGGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGGAGGAAGGAGGAAAGGAGGAGGAAGGAGGAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	70	0.0143	842	c.758 others(857): Show c.758-706_758-705insGTCCTCCTTCCTCCTCCTTTCCTCCTTCCT CCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCGTCCCTCCTTCCTCCTTTC TCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCC TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCTTTCCTCCTTCCTCCCTTCCTCCTTCCTCCGTC CTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTTCTCCATC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTC CTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTTC TCCTTCCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCC TCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCATCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCTTCC TCCATCCTCCTTCCTCCGTCCTCCTTCTCCATCCTCCTTCCTCCTTCCTC CTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCATCCTCCTTCCTCC CTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCC TTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCT TTCTCCTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM118B_chr11_126206782_126267968	126226429	C C	CAGGCCAG others(835): Show CAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG00642.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0139 a0001c0001t0001g0145	2	325	0.0062	842	c.-76 others(859): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAAC GTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTG GCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCG CAAGTTCCTATCACTGTGAGTTAGGCCAGAAAGGAACGTGGCGCAAGTTC CTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTA TCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(835): Show TAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCTCAC TCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAGGTC AGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAA AAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTGCTA CTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGGCTA CAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGTAAG AATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATAGGCCGG GCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGCGGG CGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGTGAA ACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGCATG CCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGGTGA GCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGAGCC AGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGATTGC ACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18943.hp2 NA18950.hp2 others(8): Show HG02040.hp2 NA18943.hp2 NA18950.hp2 NA18970.hp2 NA18976.hp1 NA18980.hp2 NA18982.hp1 NA19000.hp2 NA19054.hp2 NA19058.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0003 a0004c0008t0003 a0001c0001t0003 a0004c0008t0003	a0001c0001t0003g0000 a0004c0008t0003g0000 a0001c0001t0003g0000 a0004c0008t0003g0000	11	321	0.0343	842	c.-30 others(853): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284535	T T	TAATAATA others(835): Show TAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCTCAC TCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAGGTC AGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAA AAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTGCTA CTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGGCTA CAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGTAAG AATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATAGGCCGG GCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGCGGG CGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGTGAA ACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGCATG CCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGGTGA GCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGAGCC AGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGATTGC ACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01891.hp2 HG02451.hp1 others(10): Show HG01361.hp1 HG01891.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03516.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0000 a0001c0001t0021g0000 a0001c0001t0004g0000 a0001c0001t0021g0000	13	403	0.0323	842	c.-30 others(853): Show c.-3052_-3051insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2914		chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(835): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCAT GTGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATC TGGGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTA TCTGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTG TGCATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGT GTGTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTG TGTGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTG TGCATGTATCTGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTA TCTGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01109.hp1 others(10): Show HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01496.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 a0001c0002t0004 a0001c0002t0007 a0001c0003t0001 a0001c0004t0006	a0001c0001t0002g0034 a0001c0001t0002g0110 a0001c0001t0007g0055 others(10): Show a0001c0001t0002g0034 a0001c0001t0002g0110 a0001c0001t0007g0055 a0001c0001t0009g0025 a0001c0001t0023g0003 a0001c0002t0004g0102 a0001c0002t0007g0045 a0001c0003t0001g0053 a0001c0003t0001g0070 a0001c0003t0001g0096 a0001c0004t0006g0019 a0001c0004t0006g0020 a0001c0004t0006g0024	13	46	0.2826	842	c.55+ others(861): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACACATGCACACATAGATACATGCACATATGCAGATACACATATGCACA CACAGATACACACATGCACACACAGATATATGCACACACAGATACACACA TCACATGCACATGCACACAGATACACACATGTGCACATGGATACACACAT ATGCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATG CACACACACAGCTACATGCACATACACAGATACACACATTCACACACAGA CACATACATGCACACAGTGATACACACATGCACACATACAGATATACACA TGCACATGCACACAGATACACACATGCACACAGATACACACATGCACACA CAGAGATACACACATGCACACACACATACACACATGCACATGCCTACAGG TACACACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(835): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCAT GTGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATC TGGGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTA TCTGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTG TGCATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGT GTGTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTG TGTGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTG TGCATGTATCTGTGTGTGCGCATGTGTGTATCTGTGTTTGCATGTGTGTA TCTGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0001 a0001c0004t0020g0001	1	34	0.0294	842	c.55+ others(861): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGCGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACACATGCACACATAGATACATGCACATATGCAGATACACATATGCACA CACAGATACACACATGCACACACAGATATATGCACACACAGATACACACA TCACATGCACATGCACACAGATACACACATGTGCACATGGATACACACAT ATGCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATG CACACACACAGCTACATGCACATACACAGATACACACATTCACACACAGA CACATACATGCACACAGTGATACACACATGCACACATACAGATATACACA TGCACATGCACACAGATACACACATGCACACAGATACACACATGCACACA CAGAGATACACACATGCACACACACATACACACATGCACATGCCTACAGG TACACACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGT others(835): Show CTGTGTGTATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTCTGTGTGCATGTGTATATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCAT GTGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATC TGGGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCATATGTGTA TCTGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTG TGCATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGT GTGTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTG TGTGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTG TGCATGTATCTGTGTGTGCGCATGTGTGTATCTGTGTTTGCATGTGTGTA TCTGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01978.hp1 HG01123.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0017 a0001c0004t0019 a0001c0001t0017 a0001c0004t0019	a0001c0001t0017g0093 a0001c0004t0019g0002 a0001c0001t0017g0093 a0001c0004t0019g0002	2	35	0.0571	842	c.55+ others(861): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGCGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACATGCACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACACATGCACACATAGATACATGCACATATGCAGATACACATATGCACA CACAGATACACACATGCACACACAGATATATGCACACACAGATACACACA TCACATGCACATGCACACAGATACACACATGTGCACATGGATACACACAT ATGCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATG CACACACACAGCTACATGCACATACACAGATACACACATTCACACACAGA CACATACATGCACACAGTGATACACACATGCACACATACAGATATACACA TGCACATGCACACAGATACACACATGCACACAGATATACACATGCACACA GAGAGATACACACATGCACACACACATACACACATGCACATGCCTACAGG TACACACATACACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(835): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCACTCCTCTCCCTCTCACTCCTCTCCCTCT CCCTCTCCCTCTCACTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0079 a0006c0007t0009g0079	1	354	0.0028	842	c.-27 others(853): Show c.-2761_-2760insTGAGGGAGAGGGAGAGTGAGGGAGAGGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGTGAGA GGGAGAGGGAGAGGGAGAGGAGTGAGAGGGAGAGGAGTGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149568	T T	TCTCCTCA others(835): Show TCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAG CCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCA CACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACA GCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCAC ACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCA CACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCC TCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACAC CACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCC TCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACA CAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTC CTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCA CACCCCTGTCCTCCTCACACACCACACAGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	204	0.0049	842	c.67 others(853): Show c.6778_*6779insCTCCTCACACACCACACAGCTCACATCCCTCTCC TCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCC CACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTG CTCACACACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCC TCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAG CCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCA CACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACA GCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCAC ACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCTCACA CCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3977		chr1	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(835): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATCCATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	207	0.0048	842	c.126 others(859): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATGGATATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LINGO2_chr9_27932617_29218601	28189535	G G	GGAAGGAA others(835): Show GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGATG GAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGA GGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGG AAGGGAGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGAAGGAAGGGA GGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGAAAGGAAGGGAGGGA GGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGAGGAAGG AGGAGGGAGGAGGAAGGAAGGGAGGAGGAAGGAAGGAGAAGGAGGGAGGG AGGAGGAAGGAAGGAAGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGAAGG AAGGGAGGAAGGAAGGGAGGGCAGGGAGGAAGGAAGGGAGGGAGGAAGGA AGGAAGGGAGGGAGGAAGGAAGGAACGGAGGGAGGGAGGAAGGAAGGAAG GGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0053 a0001c0001t0019g0053	1	62	0.0161	842	c.-36 others(863): Show c.-36+105672_-36+105673insTTCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCGTTCCTT CCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTGCC CTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCTCCCTCCTTCCTCCTCCC TCCTTCCTTCCTTCCTCCTCCCTCCCTCCTTCTCCTTCCTTCCTCCTCCC TTCCTTCCTCCTCCCTCCTCCTTCCTCCTCCCTCCCTCCCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTTCCTTCTCCCTCCCTTCCTTCCTTCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTCCCTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTCCCTCCATCCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTC	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	857637	A A	AGTGGTGT others(835): Show AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACG GGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0151 a0001c0011t0001g0151	1	292	0.0034	842	c.153 others(861): Show c.1530-2932_1530-2931insGCACACCCGTCCCGAGACACCACGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACACCCA TCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACAC CACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC128092252_chr15_50643802_50691717	50679475	T T	TATATATA others(835): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATTAT ATATATGTGTATATATATAATATATATATTATATATATGTGTATATATAT AATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATTATATATATA TATTATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATAATATATATATATTATATATATGTGTATATATATAATATA TATATATTATATATATGTGTATATATATAATATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	381	0.0026	842	c.187 others(859): Show c.187+7055_187+7056insTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATATTATATATATACACATATATATAATATATATATATAT TATATATATACACATATATATAATATATATATATATTATATATATACACA TATATATAATATATATATATTATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATAATATATATACACATATATATAATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATTATATATATACACATATATATAATATATATATTATA TATATACACATATATATAATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATATTATATATATACACATATATATAATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(835): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAA AACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03041.hp1 HG02896.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	2	375	0.0053	842	c.-30 others(853): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(835): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAATTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTA AAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAA ACTATAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTA AAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATG TATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	348	0.0029	842	c.-29 others(853): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAA AACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATAT AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAA AACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTT ATATATGTATGTAAAACTATAGTTATGTATGTATGTAAAACTATATACAG TTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTAT ACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAA AACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(835): Show CCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	6	0.1667	842	c.368 others(859): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(835): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCGTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCCATA ATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATGTAT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAATT TCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAAG GACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGAA TATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTACC TGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATCA TCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0123 a0001c0001t0015g0123	1	123	0.0081	842	c.213 others(861): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCC TTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAA GGAAATATATATCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCCC AGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACAG GCGGGCATCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGGG TTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCGC CCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGTA GAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCTG CCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAGC AACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGGA CCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(835): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGAGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGA AGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGA AGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	173	0.0058	842	c.641 others(857): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCC TCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTC CTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTT TCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCTCCTTTTCCCCCTCCTCCCCC CTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(835): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGAAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGA AGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGA AGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	173	0.0058	842	c.641 others(857): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTTCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCC TCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTC CTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTT TCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCC CTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(835): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGA AGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGA AGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01943.hp1 HG01975.hp2 others(5): Show HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02148.hp2 HG03654.hp2 NA18982.hp2 NA18995.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0002t0001g0097 others(5): Show a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0002t0001g0097 a0001c0002t0001g0138 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0207	8	180	0.0444	842	c.641 others(857): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCC TCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTC CTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTT TCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCC CTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(835): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGGAAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGG GAGAGAAGGGGGGAGGAGGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGG GAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA GAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGG GGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAG TGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGG AAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGG AGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAG AGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGG GAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	8	0.1250	842	c.641 others(857): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTTCCTCTCCCTCCTCCCC CCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCC TCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCT CCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCT CTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCT CACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MRTFA_chr22_40405289_40641719	40537827	G G	GCCCCCCG others(835): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGATGGAGGTGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCCGCCCAGACAGCCGCCCCATCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	251	0.0040	842	c.241 others(861): Show c.241+14278_241+14279insGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCTGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGACTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTGACCCCCCCCC ACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(835): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATTTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAA TCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATT TTATATATATAAAATAAGATTTTATATATATATATAAAATAAGATTTTAT ATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATAAGATTTTATATATATAAAATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18964.hp2 NA18984.hp2 others(1): Show NA18956.hp2 NA18964.hp2 NA18984.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0014g0212	4	245	0.0163	842	c.-5+ others(857): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATATATAAAATCTTAT TTTATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT CTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATAT ATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATAT ATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATA TATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATAT AAAATATATAAAAAATATATATCAAATATATATAAAATAAGATTTTATAT ATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(835): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	313	0.0032	842	c.91+ others(855): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCGGGGGGTGGGGGGGGTG GGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(835): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	313	0.0032	842	c.91+ others(855): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TTGGGGGGTGGGGGTGGGGGGGGTGAAGGAGTCGGGGGGTGGGGGGGGTG GGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(835): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG01433.hp2 others(8): Show HG00733.hp1 HG01175.hp1 HG01433.hp2 NA18941.hp1 NA18945.hp2 NA18999.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA20129.hp1 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0004 a0001c0001t0035 a0010c0018t0004 a0001c0001t0004 a0001c0001t0035 a0010c0018t0004	a0001c0001t0004g0003 a0001c0001t0004g0220 a0001c0001t0004g0221 others(8): Show a0001c0001t0004g0003 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0035g0003 a0010c0018t0004g0226	11	361	0.0305	842	c.-14 others(859): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(835): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18972.hp2 NA19090.hp2 NA18959.hp2 NA18972.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238	3	353	0.0085	842	c.-14 others(859): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(835): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	351	0.0028	842	c.-14 others(859): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(835): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATACATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATATATACACATATAC ATGTATATGCATATGTGTGTATACATATACATATATATGCATATATGTGT ATACATATACATATATATGCATATATGTGTATATATACACATATATATGT GTGTGTATATATATGTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	135	0.0074	842	c.31 others(853): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATACATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATGTGTGTATATATACATATACATGTATATGCA TATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TATATACACATATACATGTATATGCATATGTGTGTATACATATACATATA TATGCATATATGTGTATACATATACATATATATGCATATATGTGTATATA TACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATA TATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGCTAT others(835): Show TATGCTATCTAGAGATATCTATAGATTAGATATCTGTGATATCTAGAGAT ATCTATAGATTGGATATCTATATCTAGAGATATCTATAGATTGGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATAG ATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATGTC TATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATA TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTCGAGA TATCTATAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGAT ATCTATGATATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGA GATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAG ATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0296 a0003c0003t0002g0296	1	221	0.0045	842	c.176 others(861): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGATAT CTCGAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGA TATCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAT ATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGACATCATA GATATCTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAG AAATCTCTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCA TAGATATCTAATCTATAGACATCTCTAGATATCATAGATATCTAATCTAT AGACATCTCTAGATATAGATATCTAATCTATAGATATCTCTAGATATCAT AGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATA GATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATC ATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTA TAGATATCTCTAGATATCTATCTAATCTATAGATATCTCTAGATATCATA GACATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAG ATATCTCTAGATATCATAGATATCCAATCTATAGATATCTCTAGATATAG ATATCCAATCTATAGATATCTCTAGATATCACAGATATCTAATCTATAGA TATCTCTAGATAGCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(835): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGA GGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG GGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGG CGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTG AGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCA AGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCG GGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGG TGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAG GGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19054.hp1 NA18971.hp1 NA19054.hp1	a0023 a0023	a0023c0021 a0023c0021	a0023c0021t0001 a0023c0021t0001	a0023c0021t0001g0002 a0023c0021t0001g0016 a0023c0021t0001g0002 a0023c0021t0001g0016	2	25	0.0800	842	c.371 others(859): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTC TCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCT GCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCC TCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCAC CTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCAC CCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTC CCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCT CCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCT CTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCCCTTCTC TCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTC TCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCCC CCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCC TCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCC CTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCAT CCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(835): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00738.hp1 others(20): Show HG00280.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01258.hp2 HG01496.hp1 HG01928.hp1 HG02080.hp1 HG02148.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0047 a0001c0001t0002g0228 a0002c0002t0001g0002 others(19): Show a0001c0001t0001g0047 a0001c0001t0002g0228 a0002c0002t0001g0002 a0002c0002t0001g0197 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0225 a0002c0002t0002g0198 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0215 a0002c0002t0002g0218 a0002c0002t0003g0224 a0002c0002t0004g0212	23	283	0.0813	842	c.306 others(861): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCTTCTTCCCTCTT TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(835): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGGTGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGG TGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATAATGATAGTGGTG ATGATGGTGATGGTGGTGATGATGGTGATAATGATAGTGGTGATGGTGGT GATGATGGTGATGGTGATGATGGTGATGCTGGTGGTGATGGTGGTGATGA TGGTGATGGTGATGATGATGGTGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGAT GGTGATGGTGGTGGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGA TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAG GTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGT GATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGATAA TGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTGATGATG GTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGATGATGTT GGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	70	0.0143	842	c.438 others(861): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAAT GATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGG TGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT AATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGA TGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGAT GATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGA TGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTG ATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGT GATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGC AGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(835): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATAC ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGCATATAATATAT AATACATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19007.hp2 NA18951.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0067 a0001c0001t0009 a0001c0001t0067	a0001c0001t0009g0142 a0001c0001t0067g0141 a0001c0001t0009g0142 a0001c0001t0067g0141	2	20	0.1000	842	c.24+ others(859): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACATTATACATTA TTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAA TATATATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGCATATAATATATAATACATAATACATTATATATAAGCATAT AACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
TCEA3_chr1_23375909_23429748	23392445	A A	AATACACA others(835): Show AATACACACACACTCCACACATCATACACACACACTCCACACATCATACA CACACACACACTCCACACATCGTACACACACACATTCCACACATCATACA CACACTCCACACACTATACACACCATACACACATTCCTTACATCATACGC ACCACACACACTCCACACATCATACACACACACATACTCCACACATCATA CACACACACTCCACACATCATACACACACACTCCACACATCATACACACT GCACACACACTCCACACATCATACACACCACGCACACTCCACACATCATA CACACACTCCATACATCACACACTCCACACATCACACACTCCACACATCA TACACACATACTCCATAAATCATACACAATACACACACACTGCACACATC ATACACACCACAAACACTCCACACATCAGACAACACACTCCACACATCAT ACACAATACATACATACTCCACACATCATACACAGTGCACACACACTCCA CACATCATACACACACACTCCACACGTCATACACAAACACACTCCACACA TCATACACACACACACTCCACACATCATACACACACTCCATACATTATAC TCACCACACATACTCCACACATCATACACACACTCCATACATTATACTCA CCACACATACTCCACACATCATACACACACACTCCACACATCATACACAA TACACACACACTCCACACATCATACACACCCACTCCACACATCATACACA CACACACACTCCACACATCATACACACACACGCACTCCACACATCATACA CACATACACACACTCCACACCTCATACACATACTCCATACATC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0268 a0001c0001t0001g0125 a0001c0001t0002g0268	2	3	0.6667	842	c.819 others(859): Show c.819+1433_819+1434insGATGTATGGAGTATGTGTATGAGGTGTG GAGTGTGTGTATGTGTGTATGATGTGTGGAGTGCGTGTGTGTGTATGATG TGTGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGGGTGTGTATGATGTG TGGAGTGTGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGT GTGGAGTATGTGTGGTGAGTATAATGTATGGAGTGTGTGTATGATGTGTG GAGTATGTGTGGTGAGTATAATGTATGGAGTGTGTGTATGATGTGTGGAG TGTGTGTGTGTATGATGTGTGGAGTGTGTTTGTGTATGACGTGTGGAGTG TGTGTGTATGATGTGTGGAGTGTGTGTGCACTGTGTATGATGTGTGGAGT ATGTATGTATTGTGTATGATGTGTGGAGTGTGTTGTCTGATGTGTGGAGT GTTTGTGGTGTGTATGATGTGTGCAGTGTGTGTGTATTGTGTATGATTTA TGGAGTATGTGTGTATGATGTGTGGAGTGTGTGATGTGTGGAGTGTGTGA TGTATGGAGTGTGTGTATGATGTGTGGAGTGTGCGTGGTGTGTATGATGT GTGGAGTGTGTGTGCAGTGTGTATGATGTGTGGAGTGTGTGTGTATGATG TGTGGAGTGTGTGTGTATGATGTGTGGAGTATGTGTGTGTGTATGATGTG TGGAGTGTGTGTGGTGCGTATGATGTAAGGAATGTGTGTATGGTGTGTAT AGTGTGTGGAGTGTGTGTATGATGTGTGGAATGTGTGTGTGTACGATGTG TGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTG GAGTGTGTGTGTAT	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(835): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAATATATATCATATATATTTATATATTAAAAATATATATCATA TATATTTATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0001 a0001c0034t0001g0001	1	58	0.0172	842	c.143 others(863): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPO_chr2_1408463_1548673	1530712	C C	CCCCCCAC others(835): Show CCCCCCACTGTGAGCAAACTCCTCAAATCCCCTCACTGTGTGCCACCTCC CCAAATCCCCCCACTTTCTGCAACCTCCGCAAATACCCCCACTGTGTGCA ACCTCCTCAAATCCCCCCACTCTGTGCAACCTCCCCTATCCCTCCCACTG TGTGCAACCGCCCCAAATCCCCCAACTATATGCAACCTACTCAAATCCCC CCACTGTGTGCAACCTCCCCAAAACCCCCACTGTGAGCAACCTCCCCAAA TCCCCTCACTGTGTAACCTCCCCAAATCCCCTCACTGTGTAACCTCCCAA AATACCCCCCGTGAGCAACCTCCCCAAATCCCCGCACTGTGTGCAACCAC CCCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCTCCGCCACTGTG AGCAACCTCCTCAAATACCCCACTGTGTGCAACCTCCTCAAATCCCCCCA TCTGTGTGCGACCTCCCCAAATCCTCCCAGTGTGTGCAACTTCCCTAAAT CCCTCCAACTGTGTTTAGCTTCCCCAAATACCAACTGTGTGCAACCTCCT CACATCCCCACCACTCTGTGCAACCTCTCCAAGTCACCCCTACTCTCTGC AGACTCCCCAAATCCCCCCCCAATCTGTGCAACCTCCCCAAATCCCACCC AATTGTGGGCAACCACACAAAATCCCGCCACTGTGTGCAACCTCACCAAA TTTCTCCCACTCTGGGCAACCTCCCCAAATCCCCCCCACTCTGTGCAACC TCCCAAAATCCCACACACTGTATGCAACCTCCTCAAATCCCCATACTGTG TGCAACCTCCTCAAATCCCCGTACTGTGTGCAACCTCCTAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0100 a0003c0006t0004g0101 a0003c0006t0004g0100 a0003c0006t0004g0101	2	128	0.0156	842	c.261 others(861): Show c.2619-9877_2619-9876insACTGTGAGCAAACTCCTCAAATCCCC TCACTGTGTGCCACCTCCCCAAATCCCCCCACTTTCTGCAACCTCCGCAA ATACCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACTCTGTGCAACCT CCCCTATCCCTCCCACTGTGTGCAACCGCCCCAAATCCCCCAACTATATG CAACCTACTCAAATCCCCCCACTGTGTGCAACCTCCCCAAAACCCCCACT GTGAGCAACCTCCCCAAATCCCCTCACTGTGTAACCTCCCCAAATCCCCT CACTGTGTAACCTCCCAAAATACCCCCCGTGAGCAACCTCCCCAAATCCC CGCACTGTGTGCAACCACCCCAAATCCCCCCCACTGTGTGCAACCTCCTC AAATCCTCCGCCACTGTGAGCAACCTCCTCAAATACCCCACTGTGTGCAA CCTCCTCAAATCCCCCCATCTGTGTGCGACCTCCCCAAATCCTCCCAGTG TGTGCAACTTCCCTAAATCCCTCCAACTGTGTTTAGCTTCCCCAAATACC AACTGTGTGCAACCTCCTCACATCCCCACCACTCTGTGCAACCTCTCCAA GTCACCCCTACTCTCTGCAGACTCCCCAAATCCCCCCCCAATCTGTGCAA CCTCCCCAAATCCCACCCAATTGTGGGCAACCACACAAAATCCCGCCACT GTGTGCAACCTCACCAAATTTCTCCCACTCTGGGCAACCTCCCCAAATCC CCCCCACTCTGTGCAACCTCCCAAAATCCCACACACTGTATGCAACCTCC TCAAATCCCCATACTGTGTGCAACCTCCTCAAATCCCCGTACTGTGTGCA ACCTCCTAAATCCCCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM7_chr15_50552158_50691797	50679475	T T	TATATATA others(835): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATTAT ATATATGTGTATATATATAATATATATATTATATATATGTGTATATATAT AATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATTATATATATA TATTATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATAATATATATATATTATATATATGTGTATATATATAATATA TATATATTATATATATGTGTATATATATAATATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0004 a0001c0001t0081g0004	1	345	0.0029	842	c.3+7 others(855): Show c.3+7055_3+7056insTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATATTATATATATACACATATATATAATATATATATATATTATA TATATACACATATATATAATATATATATATATTATATATATACACATATA TATAATATATATATATTATATATATACACATATATATAATATATATATAT TATATATATACACATATATATAATATATATATATATTATATATATACACA TATATATAATATATATATATAATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATTATATATATACACATATATATAATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATATTATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(835): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	98	0.0102	842	c.41- others(859): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(835): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0008 a0001c0012t0008	a0001c0012t0008g0096 a0001c0012t0008g0096	1	98	0.0102	842	c.41- others(859): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(835): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCATCATAATT ACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCAC CACCACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACT ACCACTACTACCATCACCATCACCACCACCATCACCACCACCACCACAAT ACTACCACATCACCACCACCACCATCATCATCACCACCACTACCACCACC ACTACCACCACCACCACCATCACTACTACCATCACCACCACCACCACCAC CACCACCACCACGACCACCACAACACTACCACATCACCACCACCACGACC ACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGCCACCAT CACCACCACATCACCACCACCACCACCACTACTACCACCACCACCACCAT CACCACTACTACCATCACCACTACTACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCATCACAATCACCACCACCATCACCACCACC ACTACCACCACCACCATCACCATCATCACCACCACCACCAACACTACTGC CACCACCACTATTACCATCACCACCACTACTACCACCACCACTACCATAA CCACCATCATCACCATCACCATCATTACTGCTATTATGACCACCATCACT ACCACCATTATCACCACCACCACTAAACTACCACCACTACCTCACTGCCA TCATCACCATCACCATTACTAACATCACCATTACTAACATCACCATTATA ATACTACCACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	50	0.0200	842	c.24 others(853): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTA GTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGGTGGTGAT GTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAGTGGTGGT GGCAGTGGTGGTCGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGGT GGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTGGTGGTGA TGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGT AGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTG GTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGAT GGTGGTGGTAATTATGATGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTGA TGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(835): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACCCTACACACCCCACACACACCACACACACACATCACATACCACA CACACATCACATACCACACACAAACCACACACCACACACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCAACACACACA TCACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCTACACACACCACACACCCCACACACACATCACACACCACACACAC CACACACACCCCACACACACCACACACACACATCACATACCACACACCCG ACACACGCCACACACACACCACACACCCCACGCACACATCACATACCACA CACAAACCACACACCCTACACACACCACACACCCCACACACACCACACAC ACACACCACACACACATCACATACCACACACAAACCACACACCCCCACAC ACCCCACACACCCCACACACACCACACACCCCACACACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCCACACACCCCA CACACCACACACACACCACACACCCCACACACACATCACATACCACACAC AAACCACACACCCTACACACACCACACACCCCACACACACCACACACCCG ACACACGCCACACACACACCACACACCCCACGCACACATCACATACCACA CACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01123.hp2 others(10): Show HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0095 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0297 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0002g0310	13	47	0.2766	842	c.35 others(861): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACAAACCACACACCCTACACACCCCACACACACCACACACACACAT CACATACCACACACACATCACATACCACACACAAACCACACACCACACAC ACACCACACACCCCACACACACATCACATACCACACACAAACCACACACC CAACACACACATCACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCTACACACACCACACACCCCACACACACATCACAC ACCACACACACCACACACACCCCACACACACCACACACACACATCACATA CCACACACCCGACACACGCCACACACACACCACACACCCCACGCACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACCACACACACACACCACACACACATCACATACCACACACAAACCACA CACCCCCACACACCCCACACACCCCACACACACCACACACCCCACACACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC CACACACCCCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCTACACACACCACACACCCCACACACA CCACACACCCGACACACGCCACACACACACCACACACCCCACGCACACAT CACATACCACACACAAACCACACACCCTACACACCCCACACACCCCACAC ACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCHL3_chr13_75544791_75611020	75581694	A A	ATTTTTTT others(835): Show ATTTTTTTTTTTTTTTTTAAGTCTGGATCATTTCTTTTTAGCCTTTACAG CATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGTAATTTAT TCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGAAGGAAAA GTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTTTTTGAAC TGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATATTCAGGAAT TCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAAATTAGTT GACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAATTGGAGC TGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTATATGCTT TGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAACATAATT TAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGATTTCTTTT TTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAGGCGGCAG TGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGGGCTCAAA CCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGCATGTACC ATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGGGTGGGGT CTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTT TCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCCACTAACA AAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03209.hp2 others(4): Show HG02647.hp2 HG02723.hp1 HG03209.hp2 HG03490.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088	7	189	0.0370	842	c.474 others(861): Show c.474+12203_474+12204insTAAGTCTGGATCATTTCTTTTTAGCC TTTACAGCATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGT AATTTATTCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGA AGGAAAAGTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTT TTTGAACTGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATATT CAGGAATTCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAA ATTAGTTGACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAA TTGGAGCTGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTA TATGCTTTGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAA CATAATTTAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGAT TTCTTTTTTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAG GCGGCAGTGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGG GCTCAAACCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGC ATGTACCATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGG GTGGGGTCTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAG TGATCTTTCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCC ACTAACAAAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA TTTTTTTTTTTTTTTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75581694	A A	ATTTTTTT others(835): Show ATTTTTTTTTTTTTTTTTAAGTCTGGATCATTTCTTTTTAGCCTTTACAG CATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGTAATTTAT TCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGAAGGAAAA GTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTTTTTGAAC TGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATGTTCAGGAAT TCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAAATTAGTT GACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAATTGGAGC TGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTATATGCTT TGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAACATAATT TAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGATTTCTTTT TTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAGGCGGCAG TGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGGGCTCAAA CCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGCATGTACC ATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGGGTGGGGT CTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTT TCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCCACTAACA AAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	183	0.0055	842	c.474 others(861): Show c.474+12203_474+12204insTAAGTCTGGATCATTTCTTTTTAGCC TTTACAGCATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGT AATTTATTCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGA AGGAAAAGTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTT TTTGAACTGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATGTT CAGGAATTCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAA ATTAGTTGACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAA TTGGAGCTGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTA TATGCTTTGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAA CATAATTTAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGAT TTCTTTTTTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAG GCGGCAGTGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGG GCTCAAACCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGC ATGTACCATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGG GTGGGGTCTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAG TGATCTTTCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCC ACTAACAAAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA TTTTTTTTTTTTTTTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(835): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTT GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	68	0.0147	842	c.218 others(859): Show c.2182+106_2182+107insGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar

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