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
ZNF469_chr16_88377959_88445753	88401469	A A	AGATGGAT others(600): Show AGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGAGTGGATGGAT GGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACATGGGT GGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATGGATGG ATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGATGCAT GGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTGGATGA ATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGATGGAT GGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATGGATGG ATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGATGGAT GGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGGATGGA TGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATACAAGGG TGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGATGGATG GATGGATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp2 others(3): Show HG01069.hp1 HG01175.hp2 HG01192.hp2 HG01993.hp2 HG02280.hp1 NA20805.hp1	a0002 a0006 a0010 others(2): Show a0002 a0006 a0010 a0053 a0073	a0002c0003 a0006c0006 a0010c0148 others(2): Show a0002c0003 a0006c0006 a0010c0148 a0053c0168 a0073c0167	a0002c0003t0002 a0006c0006t0001 a0010c0148t0023 others(2): Show a0002c0003t0002 a0006c0006t0001 a0010c0148t0023 a0053c0168t0004 a0073c0167t0035	a0002c0003t0002g0114 a0002c0003t0002g0115 a0006c0006t0001g0045 others(3): Show a0002c0003t0002g0114 a0002c0003t0002g0115 a0006c0006t0001g0045 a0010c0148t0023g0031 a0053c0168t0004g0046 a0073c0167t0035g0059	6	176	0.0341	607	c.-19 others(628): Show c.-192+18235_-192+18236insCTGGGGTGGGTGGATGGGTGAGTG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGAGTGGA TGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACA TGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATG GATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGA TGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTG GATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGA TGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATG GATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGA TGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGG ATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATAC AAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(601): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	225	0.0089	608	c.-10 others(619): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATATAT TTATGATATATAAATATAAATTTTTATATATTTATATTTATGATATATAA ATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(601): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTT TTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0029 a0002c0008t0029	a0002c0008t0029g0067 a0002c0008t0029g0067	1	228	0.0044	608	c.106 others(627): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGG AAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132732464	G G	GCTGGTGT others(601): Show GCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGTGTGCTGGTGTCTGA TACGCACCGTGTGAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGT GAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGC GTCCTGGTGTCTGATATGCACCATGTGAAGCGCTCCGCGTGCTGGTGTCT GATGTGCACCGTGTGAAGCTCTCTGCGTCCCGGTGTCTGATACGCACCGT GTGAAGCTCTCTGCATCCCGGTGTCTGACATGCACCGGGTGAAGCGCTCT GCGTCCCGGTGTCTGACGTGCACCGTGTGAAGCTCTCTGCGTCCCGGTGT CTGACGTGCACCGTGTGAAGCTCTCTGCATCCCGGTGTCTGATGTGCACC GTGTGAAGCGCTCTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCTCT CTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCGCTCTGCGTCCCGGT GTCTGATATGCGCCGTGTGAAGCGCTCTGTGTCCTGGTGTGTGACATGCG CCGTGTGAAGCGCTCTGCGTCCCGGTGTCTGATATGCACCGTGTGAAGCT CTGTGCGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02717.hp1 others(4): Show HG01243.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0010 a0003c0007 a0007c0013 a0001c0010 a0003c0007 a0007c0013	a0001c0010t0002 a0003c0007t0002 a0007c0013t0005 a0001c0010t0002 a0003c0007t0002 a0007c0013t0005	a0001c0010t0002g0272 a0003c0007t0002g0011 a0003c0007t0002g0273 others(3): Show a0001c0010t0002g0272 a0003c0007t0002g0011 a0003c0007t0002g0273 a0003c0007t0002g0274 a0007c0013t0005g0015 a0007c0013t0005g0016	7	342	0.0205	608	c.189 others(627): Show c.1891+1920_1891+1921insGACGCACAGAGCTTCACACGGTGCAT ATCAGACACCGGGACGCAGAGCGCTTCACACGGCGCATGTCACACACCAG GACACAGAGCGCTTCACACGGCGCATATCAGACACCGGGACGCAGAGCGC TTCACACGGCGCATATCAGACACCGGGATGCAGAGAGCTTCACACGGCGC ATATCAGACACCGGGATGCAGAGCGCTTCACACGGTGCACATCAGACACC GGGATGCAGAGAGCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGA GCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGCGCTTCACCCGGT GCATGTCAGACACCGGGATGCAGAGAGCTTCACACGGTGCGTATCAGACA CCGGGACGCAGAGAGCTTCACACGGTGCACATCAGACACCAGCACGCGGA GCGCTTCACATGGTGCATATCAGACACCAGGACGCAGAGAGCTTCACACG GTGCGTATCAGACACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGA CACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGACACCAGCACACA GAGAGCTTCACACGGTGCGTATCAGACACCAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132732464	G G	GCTGGTGT others(601): Show GCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGTGTGCTGGTGTCTGA TACGCACCGTGTGAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGT GAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGC GTCCTGGTGTCTGATATGCACCATGTGAAGCGCTCCGCGTGCTGGTGTCT GATGTGTACCGTGTGAAGCTCTCTGCGTCCCGGTGTCTGATACGCACCGT GTGAAGCTCTCTGCATCCCGGTGTCTGACATGCACCGGGTGAAGCGCTCT GCGTCCCGGTGTCTGACGTGCACCGTGTGAAGCTCTCTGCGTCCCGGTGT CTGACGTGCACCGTGTGAAGCTCTCTGCATCCCGGTGTCTGATGTGCACC GTGTGAAGCGCTCTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCTCT CTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCGCTCTGCGTCCCGGT GTCTGATATGCGCCGTGTGAAGCGCTCTGTGTCCTGGTGTGTGACATGCG CCGTGTGAAGCGCTCTGCGTCCCGGTGTCTGATATGCACCGTGTGAAGCT CTGTGCGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03453.hp1 HG01109.hp1 HG03453.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0189 a0001c0010t0002g0190 a0001c0010t0002g0189 a0001c0010t0002g0190	2	337	0.0059	608	c.189 others(627): Show c.1891+1920_1891+1921insGACGCACAGAGCTTCACACGGTGCAT ATCAGACACCGGGACGCAGAGCGCTTCACACGGCGCATGTCACACACCAG GACACAGAGCGCTTCACACGGCGCATATCAGACACCGGGACGCAGAGCGC TTCACACGGCGCATATCAGACACCGGGATGCAGAGAGCTTCACACGGCGC ATATCAGACACCGGGATGCAGAGCGCTTCACACGGTGCACATCAGACACC GGGATGCAGAGAGCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGA GCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGCGCTTCACCCGGT GCATGTCAGACACCGGGATGCAGAGAGCTTCACACGGTGCGTATCAGACA CCGGGACGCAGAGAGCTTCACACGGTACACATCAGACACCAGCACGCGGA GCGCTTCACATGGTGCATATCAGACACCAGGACGCAGAGAGCTTCACACG GTGCGTATCAGACACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGA CACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGACACCAGCACACA GAGAGCTTCACACGGTGCGTATCAGACACCAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(601): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0076 a0001c0001t0084g0076	1	209	0.0048	608	c.39 others(617): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1840129	G G	GCATGGGC others(601): Show GCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGG ACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGCATGGGCAC TGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTG TCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGTGGGGACTGTC TGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGT GTGGGGACTATCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGAAGTTGTCTGGTGTGGGGACTGTCTGGTGTGG GGACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCCGGTGTGGAA GCTGTCTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0274 a0001c0009t0051g0274	1	356	0.0028	608	c.-47 others(625): Show c.-47-3224_-47-3223insCATGGGCACTGTCCGGTGTGGGGACTGT CCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGG TGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTG TGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTG GGGACTGTCCGGCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGA AGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGA CAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCT GTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGT CTGGTGTGGGGACTGTCTGGTGTGGGGACTATCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGAAGTTGTCTGG TGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTG TGGAAGCTGTCCGGTGTGGAAGCTGTCTGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840129	G G	GCATGGGC others(601): Show GCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGG ACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGCATGGGCAC TGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTG TCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGTGGGGACTGTC TGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGCT GTGGGGACTATCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGAAGTTGTCTGGTGTGGGGACTGTCTGGTGTGG GGACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCCGGTGTGGAA GCTGTCTGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG02818.hp2 others(3): Show HG01255.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1 HG03540.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0001c0100 a0011c0029	a0001c0002t0026 a0001c0003t0026 a0001c0012t0063 others(3): Show a0001c0002t0026 a0001c0003t0026 a0001c0012t0063 a0001c0100t0062 a0011c0029t0007 a0011c0029t0035	a0001c0002t0026g0267 a0001c0003t0026g0268 a0001c0012t0063g0266 others(3): Show a0001c0002t0026g0267 a0001c0003t0026g0268 a0001c0012t0063g0266 a0001c0100t0062g0265 a0011c0029t0007g0276 a0011c0029t0035g0275	6	361	0.0166	608	c.-47 others(625): Show c.-47-3224_-47-3223insCATGGGCACTGTCCGGTGTGGGGACTGT CCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGG TGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTG TGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTG GGGACTGTCCGGCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGA AGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGA CAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCT GTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGT CTGGTGTGGGGACTGTCTGCTGTGGGGACTATCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGAAGTTGTCTGG TGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTG TGGAAGCTGTCCGGTGTGGAAGCTGTCTGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTTTGT others(601): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCC TTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0015 a0004c0015t0015	a0004c0015t0015g0123 a0004c0015t0015g0123	1	122	0.0082	608	c.27 others(619): Show c.2704_*2705insTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCT AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTC TTCCTCAGGCCTTCAGTGTGTGTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(601): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGA GCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCG GGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	223	0.0045	608	c.36 others(619): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGCCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(601): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTC CCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGG TCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTC CGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCC TGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCC CCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	207	0.0048	608	c.19 others(619): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG GTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGG AGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGG GGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C20orf96_chr20_265863_295750	278978	G G	GGGCGGGA others(601): Show GGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACA GAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGA GGGAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGAGGGA GGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGG GCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGA GGGCGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGA GGAAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGG GAGGGAGGGAGGGAGGGAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGG GCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAA GGGCGGGAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	403	0.0025	608	c.465 others(623): Show c.465+193_465+194insGTCCCGCCCTTCCTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCC CTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCT CTGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCC CTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCT CCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCGCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCGCCCTTCCTCCCT CCGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCCTCCCTCTGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGT CCCGCCCTTCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCCGCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(601): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0015 a0001c0003t0026g0015	1	134	0.0075	608	c.238 others(627): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79004454	A A	AGGGGAGT others(601): Show AGGGGAGTTAGGGAGGGGGGAATTGGGGAGGGGAGTTAGGAAGAGGGGAG TTAGGGAGAGGGGAGTTAGTGAGTGGGGAGTTAGGGAGGGGGAGTTAGGG AGAGGGGAGTTAGGGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAG TTAGGGAGAGGAGTTGGGGGGGAGTTAGGGAGGGGTGTTAGGGAGAGGGG GGTTAGGGAGAGGGGAGTTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGG GAGAGGAGAGTTAGGGAGAGGGGAGCTAGGGAGAGGACAGTTAGGGAGAG GAGTTAGGGAGGGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAG GGAGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGG GGGGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTA GGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGG GGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGGGAGTT AGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGA GGAGTTGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA20300.hp2 HG01978.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0143 a0001c0001t0001g0017 a0001c0001t0001g0143	2	335	0.0060	608	c.-14 others(627): Show c.-147+5209_-147+5210insCCCAACTCCTCTCCCTAACTCCCCTC TCCCTAACTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAA CTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTCCCCT CTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTA ACTCCCCTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACCCCCC TCTCCCTAACTCCCCTCCCTAACCTCCCTCTCCCTAACTCCCCTCTCCCT AACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCTCTCCCTAACTGTCCT CTCCCTAGCTCCCCTCTCCCTAACTCTCCTCTCCCTAACTCCCCTCCCTA ACCTCCCTCTCCCTAACTCCCCTCTCCCTAACCCCCCTCTCCCTAACACC CCTCCCTAACTCCCCCCCAACTCCTCTCCCTAACTCCCCTCTCCCTAACT CCCCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCCTAACTCCCCCTCCC TAACTCCCCACTCACTAACTCCCCTCTCCCTAACTCCCCTCTTCCTAACT CCCCTCCCCAATTCCCCCCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(601): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCT CCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCC ACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCA CTATTCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTA CTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCT TCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCA CTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCACT ACTACCTACCTTCCAACCCTCCCACTATTTCCTCCCACCACTCACCTTCC AACCCTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0153 a0001c0001t0009g0153	1	2	0.5000	608	c.266 others(625): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGTGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGT TGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(601): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCT CCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCC ACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCA CTATTCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTA CTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCT TCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCA CTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGCT ACTACCTACCTTCCAACCCTCCCACTATTTCCTCCCACCACTCACCTTCC AACCCTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19011.hp2 HG03453.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0002 a0001c0001t0054	a0001c0001t0002g0100 a0001c0001t0054g0105 a0001c0001t0002g0100 a0001c0001t0054g0105	2	3	0.6667	608	c.266 others(625): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGT TGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(601): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	218	0.0046	608	c.666 others(623): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(601): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTAAATATAT ACTATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0362 a0001c0002t0012g0362	1	27	0.0370	608	c.349 others(623): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTAAATATAT ACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(601): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTATATATAT ACTATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG03225.hp1 others(1): Show HG02145.hp2 HG02486.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0028 others(1): Show a0001c0002t0004 a0001c0002t0012 a0001c0002t0028 a0001c0002t0030	a0001c0002t0004g0109 a0001c0002t0012g0094 a0001c0002t0028g0235 others(1): Show a0001c0002t0004g0109 a0001c0002t0012g0094 a0001c0002t0028g0235 a0001c0002t0030g0087	4	30	0.1333	608	c.349 others(623): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTATATATAT ACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(601): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	12	0.0833	608	c.-45 others(629): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(601): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0162 a0003c0005t0002g0162	1	66	0.0152	608	c.-25 others(619): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(601): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0168 a0002c0002t0022g0168	1	66	0.0152	608	c.-25 others(619): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(601): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0042 a0006c0011t0042	a0006c0011t0042g0039 a0006c0011t0042g0039	1	66	0.0152	608	c.-25 others(619): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065114	A A	ATAGTATT others(601): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGA GGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0006	a0006c0011t0006g0264 a0006c0011t0006g0264	1	325	0.0031	608	c.-25 others(619): Show c.-2598_-2597insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2249		chr11	TogoVar
CDON_chr11_125951821_126067866	126065162	A A	ATAGTATT others(601): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0260 a0007c0007t0006g0260	1	324	0.0031	608	c.-26 others(619): Show c.-2646_-2645insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2297		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(601): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0294 a0007c0007t0006g0294	1	315	0.0032	608	c.-26 others(619): Show c.-2678_-2677insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2329		chr11	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(601): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAA TATTTTATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	92	0.0109	608	c.80- others(623): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATT TTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL5A1_chr9_134636803_134849843	134657126	G G	GGGGGTGG others(601): Show GGGGGTGGGGAGGGGGGTACAGTTTATAGATGATATGGGGGTGGGGAAGG GATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATG GGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGG TACAGTTTATAGATAATATGTAGGCGGGGCGGGGGTGTAGTTTATAGGTA ATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGG GGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTA GTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATA TGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAG GGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTAT AGATAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0019 a0001c0006t0047g0019	1	263	0.0038	608	c.109 others(627): Show c.109+14834_109+14835insTGGGGAGGGGGGTACAGTTTATAGAT GATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAA TATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGTAGGCGGGGCG GGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTA TAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGG GGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGG GTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGAT AATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGG GGTAGGGGGTGTAGTTTATAGATAATATGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729515	A A	AGTGTGTG others(601): Show AGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0266 a0001c0003t0004g0266	1	270	0.0037	608	c.925 others(623): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(601): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0197 a0001c0039t0004g0197	1	177	0.0056	608	c.925 others(623): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(601): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTAT ATCATATAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01192.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	275	0.0073	608	c.51+ others(623): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DAG1_chr3_49465267_49540615	49472635	C C	CTCTCTAC others(601): Show CTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGTTGAGATAGAGCCACTGCACTCCAGCCTGGG CCACAGATCGAGACTCCGTCTCAAAAACAAAACAAAAAACAACTTTATCT CCAGGCAGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATTC TGAGGCAGGTGGATTACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCGA CATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCAGGCATG GTGGCGGGCGCCTTTAATCGCAGCTACTCGGGAGGCTGAGACAGGAGAAT CGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAAAGCCTGGGTGAC AAGAGCAAAACTCGGTCTCAAAAAAAATAAAAAATAAAACAAAACAACTG GCCAGGCGCGGTGGCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAG GCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGT GAAACCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	236	0.0042	608	c.-11 others(627): Show c.-117+2231_-117+2838dupGGGCGTGGTGGTGGGCACCTGTAGTC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGTTGAGATAGAGCCACTGCACTCCAGCCTGGGCCACA GATCGAGACTCCGTCTCAAAAACAAAACAAAAAACAACTTTATCTCCAGG CAGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATTCTGAGG CAGGTGGATTACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCGACATGG TGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGC GGGCGCCTTTAATCGCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTT GAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAAAGCCTGGGTGACAAGAG CAAAACTCGGTCTCAAAAAAAATAAAAAATAAAACAAAACAACTGGCCAG GCGCGGTGGCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG TGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAC CCTGTCTCTACTAAAAATACAAAAAATTAGCC	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1471343	C C	CGACCCCT others(601): Show CGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAG CTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACC CCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTCC AGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCT TTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCT CCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCTTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGC CTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCC CTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTC CTGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTCCA GCTTTTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	18	0.0556	608	c.107 others(627): Show c.107-30011_107-30010insCTTTCCCGACCCCTCCAGCTTTTCCT GACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGC TTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCA GCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGAC CCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTT TCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTC CAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTG ACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCC TTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCC TCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCC CGACCCCTCCAGCTTTTCCTGACCCCTCCAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(601): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACGTTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATT AAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTA TTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAA TGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAA ACGGGCCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	356	0.0028	608	c.346 others(625): Show c.346+2274_346+2275insGTTATTATTAAACAGGCCTTTCATAACG TTATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTC TTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCC CCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAA CAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTA TTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACAT TATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCAT AATGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGA GGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATT AAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATT ATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTC ACATTATTATTAAACAGGCCCCTTCTTAAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716132	T T	TTGGTGTC others(601): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0029 a0001c0016t0001g0029	1	111	0.0090	608	c.86- others(621): Show c.86-466_86-465insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(601): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATATAAATATATATATTTATATATATATAAATATATATATTTATATATAT ATACATATAAATATATATTTATATACATATAAATATATAATTATATACAT ATAAATATATATAATTATATACATATAAATATATATTTATATACATATAA ATATATATTTATATACATATAAATATATATATTTATATACATATAAATTT ATATACATATAAATATATATATTTATATTTATATACATATAAATATAAAT ATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	28	0.0357	608	c.49 others(619): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATTTATATATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATATAAATATATATTTATATGTATATATGTATATG TATTATATGTATATAAATATATATATTTATATGTTTGTAAATATATATTT ATATGTATGTAAATATATATTTATATGTATATAAATATATATATTTATAT GTATATAAATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAATATACATACATATATATTATATACATATATATTTATATGTATATAA TATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(601): Show ATGTATATACATATAAATATATATGTATGTATATTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTACATACATATAAATATATATTTACATACATA TAAATATATACATTTATATACATATAAATATATACATATATACATATAAA TATATATTTATATACATATAAATATATATATTTATATATATTTATATATA TATAAATATATATATATTTGTATATATATATAAATATATATATATTTATA TATATATAAATATATATATATTTATATATATATACATATAAATATATATT TATATACATATAAATATATAATTATATACATATAAATATATAATTATATA CATATAAATATATATAATTATATACATATAAATATATATTTATATACATA TAAATTTATATACATATAAATATAAATATTTATATTTATATACATATAAA TATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0281 a0004c0005t0003g0281	1	272	0.0037	608	c.49 others(619): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTAT ATAATTATATATTTATATGTATATAAATATATATTTATATGTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATATTTATATAT ATATACAAATATATATATATTTATATATATATAAATATATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTT ATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATAT GTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAATATACATA CATATATATTTATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(601): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAG CACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACC CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCTATGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCAGTCTGGGGTCTGAGCTGTCGGGAGCACGCGGG GTCTGGGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCTGT CGGGAGCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01099.hp1 others(11): Show HG00423.hp1 HG00609.hp2 HG01099.hp1 HG01361.hp1 HG01943.hp1 HG01978.hp1 HG02148.hp2 HG02165.hp1 HG04204.hp1 NA18522.hp1 NA18990.hp1 NA18995.hp1 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 others(1): Show a0001c0003 a0001c0004 a0001c0008 a0001c0017	a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0017t0001	a0001c0003t0001g0006 a0001c0003t0001g0029 a0001c0003t0001g0031 others(11): Show a0001c0003t0001g0006 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0037 a0001c0003t0001g0042 a0001c0003t0001g0047 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0004t0001g0067 a0001c0004t0001g0079 a0001c0004t0001g0122 a0001c0008t0001g0072 a0001c0017t0001g0024	14	92	0.1522	608	c.147 others(625): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(601): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATATTTATATTTACAAATATA TATATTTATATATATATTTATATTTATATATATTTATATTTATATATATA TATATAAATATATATTTATGTATATTTATATATATATATAAATATATATT TATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0197 a0001c0001t0008g0197	1	95	0.0105	608	c.-97 others(625): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT TTATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATATTTATATTTAC AAATATATATATTTATATATATATTTATATTTATATATATTTATATTTAT ATATATATATATAAATATATATTTATGTATATTTATATATATATATAAAT ATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(601): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATAAATATA CATTTATATATAAATATATATAAATATACATTTATATATAAATATATATA AATATACATTTATATATAAATATATATAAATATACATTTATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18988.hp1 NA18965.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0021 a0001c0003t0005g0022 a0001c0003t0002g0021 a0001c0003t0005g0022	2	170	0.0118	608	c.-97 others(625): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATAAATATACATTTATATATAAATATATATAAATATACATTTA TATATAAATATATATAAATATACATTTATATATAAATATATATAAATATA CATTTATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(601): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAC GAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0012 a0009c0030t0012	a0009c0030t0012g0077 a0009c0030t0012g0077	1	82	0.0122	608	c.341 others(623): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(601): Show CAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	46	0.0217	608	c.40+ others(625): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTCCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(601): Show TATATATATATGAATATATATATGGAATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATATGTGGAATATATATATGGAATATATATATATGTGGAA TATATATATGGAATATATATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATGT GTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGA ATATATATATGGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATAG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC ATATACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	295	0.0034	608	c.-26 others(619): Show c.-2627_-2626insATATATATATGAATATATATATGGAATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAATA TATATATATGTGGAATATATATATGGAATATATATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATGGAATATATACATGG AATATATATATATAGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATACATGGAATAT ATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAAT ATATATATATGGAACATATACGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322704	A A	ATGGAATA others(601): Show ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG GAATATATATACATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATATACATGGAATATATATACATGGAATATATAT ACATGGAATATATACATGGAATATATATATGGAATGTTTATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	314	0.0032	608	c.-23 others(619): Show c.-2352_-2351insTGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATATACATGGAATATATATACATGGAATATATAT ACATGGAATATATATACATGGAATATATACATGGAATATATATATGGAAT GTTTATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2265		chr21	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(601): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAG CCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAG AGCAGACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02055.hp2 others(21): Show HG01243.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0011 a0001c0039 others(1): Show a0001c0003 a0001c0011 a0001c0039 a0003c0008	a0001c0003t0002 a0001c0003t0008 a0001c0003t0050 others(9): Show a0001c0003t0002 a0001c0003t0008 a0001c0003t0050 a0001c0003t0106 a0001c0003t0108 a0001c0003t0121 a0001c0003t0126 a0001c0003t0131 a0001c0003t0132 a0001c0011t0017 a0001c0039t0008 a0003c0008t0026	a0001c0003t0002g0179 a0001c0003t0002g0187 a0001c0003t0008g0002 others(17): Show a0001c0003t0002g0179 a0001c0003t0002g0187 a0001c0003t0008g0002 a0001c0003t0008g0013 a0001c0003t0008g0014 a0001c0003t0008g0192 a0001c0003t0050g0188 a0001c0003t0050g0189 a0001c0003t0106g0281 a0001c0003t0108g0338 a0001c0003t0121g0283 a0001c0003t0126g0282 a0001c0003t0131g0191 a0001c0003t0132g0339 a0001c0011t0017g0184 a0001c0011t0017g0185 a0001c0011t0017g0194 a0001c0039t0008g0182 a0003c0008t0026g0181 a0003c0008t0026g0190	24	100	0.2400	608	c.968 others(623): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(601): Show CTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCT CTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCTC TCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTC TCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCCTCCCCCTCCCC CCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCC CCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCCC TCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCC TTCCCCCTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0003 a0003c0020t0003	a0003c0020t0003g0068 a0003c0020t0003g0068	1	56	0.0179	608	c.11 others(629): Show c.1103+4103_*1103+4104insTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTC TCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCT CTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCC CCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCCCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTC TCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(601): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCC CCCACAGCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	5	0.2000	608	c.-41 others(623): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCC CCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(601): Show ATATATTTATATATATTTATATATATATTTATATATATATATTTTTATAT ATATTTATATATATTTTTATATATATTTATATATATTTATATATAGTTAT ATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTAT GTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATTTATATAT ATAGTTATATATTTATATATATTTATATATATTTATATATATATTTATAT ATTTATTTATATATATTTATATATGTATTTATATATATTTATATATATTT ATATGTATTTATATATATTTATATATATTTATATATATATATAAATATAT TTATATATATAAATATAAATATTTATATATATTTATATATATTTATATAT ATATTTATGTATATTTATATATATTTATATATATATTTATGTATATTTAT ATATGTATT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	80	0.0125	608	c.125 others(625): Show c.125+9673_125+9674insATTTATATATATTTATATATATATTTAT ATATATATATTTTTATATATATTTATATATATTTTTATATATATTTATAT ATATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATTTATATATATAGTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTAT ATATATTTATATATATTTATATGTATTTATATATATTTATATATATTTAT ATATATATATAAATATATTTATATATATAAATATAAATATTTATATATAT TTATATATATTTATATATATATTTATGTATATTTATATATATTTATATAT ATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(601): Show CAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTG AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTG TCACGGGACGGGTGTGCAGTGATGTCACGGGACGGGTGTGAGTGGTGTCA CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGG ACGGGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	262	0.0038	608	c.153 others(627): Show c.1530-4283_1530-4282insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGTGACATCACTGCACACCCGTCCCGTGACACCACTCACACCCATC CCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCCTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953959	A A	AACCAGCC others(601): Show AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACAC AGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACTC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCT TCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCC ACACAGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCC ACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAG CCTCCTACACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGT CCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACAC CCACCCCAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0073 a0001c0006t0001g0073	1	222	0.0045	608	c.503 others(623): Show c.503+397_503+398insGTGGGGTGGGTGTCTGTGTGGACATGTAGG AAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCG GGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTA GGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGT GGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTC TGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTG TAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACA TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar

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