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
TRIM48_chr11_55257155_55276114	55273431	A A	ATATATAT others(621): Show ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATAAAAATTATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATTATATATATATAAAAATTATATATATATTATATATA TAAAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTGTATATATATAAAAA TTATATATATATTATATATATATAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA19089.hp1 NA18946.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	265	0.0075	628	c.29 others(639): Show c.2996_*2997insTATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATAAAAATTATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATAAAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT GTATATATATAAAAATTATATATATATTATATATATATAAAAAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2318		chr11	TogoVar
VCX3B_chrX_8459830_8471510	8466993	T T	TGGTGTGT others(621): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	237	0.0042	628	c.61 others(637): Show c.610_*611insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		484		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(621): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	177	0.0056	628	c.53+ others(643): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(621): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATTAGAATATA TATTATACAATAATAATATAATATATATTATACAATAATAATATAATATA TATATAATTATATAATATAATATATATAATAATAATATAATATAATATAT AATATATATTATATAGTAATAATATAATATAATATATAATATATATTATA TAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	12	0.0833	628	c.55+ others(643): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTACTATATAATATATATTA TATATTATATTATATTATTATTATATATATTATATTATATAATTATATAT ATATTATATTATTATTGTATAATATATATTATATTATTATTGTATAATAT ATATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAA TATATATTATATACTATATTATATAATTATTATATATATTATATTATTAT TATATAATATATATTATATATTATATTAATTATATAATATATATTATATA TTATATTAATTATATAATATATCTTATATTATTATTATATAATATATATT ATATATTATATTAATTATATAATATATCTTATATTATTATTATATAATAT ATGTTATATATTACATTATTATTATATAATATACATTATATTATTATATA ATGTATATTATATATTATATTATTATATATAATATATATTATATATTATA TATTATATATAATATATATTATATATTATATATTATATTATATAATTATT ATATATTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ACCACCAT others(621): Show ACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAG CATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCA TCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACT ACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAG CATCACTATCTCTATACCCACCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCGCCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18968.hp2 NA18966.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0097 a0001c0001t0001g0107	2	22	0.0909	628	c.127 others(645): Show c.1272+892_1272+893insCCACCATCACCACTACCACCACCATTAT CACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC TCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTAT CACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCA CCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCATCAGC ATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTAC CACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACCGCCA TTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTC ATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATT ATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCAC CACCATTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCT TTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCT	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6			chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ACCACCAT others(621): Show ACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAG CATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCA TCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACT ACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAG CATCACTATCTCTATACCCACCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCAC CACCGCCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACC GCGCCACCACCATCACTGTCACCACTATTATCACTAGCACTACCACCATC AGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCAT CACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCA TCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19088.hp1 NA18973.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0091 a0001c0001t0001g0092	2	22	0.0909	628	c.127 others(645): Show c.1272+892_1272+893insCCACCATCACCACTACCACCACCATTAT CACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCG CCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACC TCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTAT CACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCA CCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCATCAGC ATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTAC CACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACCGCCA TTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTC ATCACCATCATCGTCACCACCGCGCCACCACCATCACTGTCACCACTATT ATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCAC CACCATTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCT TTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCT	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6			chr14	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA18943.hp1 NA18945.hp2 others(3): Show HG02735.hp1 NA18943.hp1 NA18945.hp2 NA19062.hp1 NA19066.hp1 NA19081.hp1	a0003 a0023 a0003 a0023	a0003c0004 a0023c0028 a0003c0004 a0023c0028	a0003c0004t0003 a0023c0028t0003 a0003c0004t0003 a0023c0028t0003	a0003c0004t0003g0002 a0003c0004t0003g0059 a0003c0004t0003g0061 others(2): Show a0003c0004t0003g0002 a0003c0004t0003g0059 a0003c0004t0003g0061 a0003c0004t0003g0087 a0023c0028t0003g0002	6	308	0.0195	628	c.14 others(639): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGAAAGGA others(621): Show GGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGAA GGAGGGAGGGAGGAAAGGAAGGGAGAGGAGGAGGGAGTGAGGGAAGGAAG GGAGGGGAGGGAGGTAGGCAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAG GGAGGAGGGAAGGGAGGGAGGGAGGGAGGGGGGAGAGGGAGGGAAGGGAG GGAGGGGAGGGAAGGGGGGGAGGGAGGAGGAGGAAGTGAGGGGAGGGAGG GAGGAAGTGAGGGGGAGGGGGAAGGCAGGAGGGAGGGGAGGGAGGGAGGG AGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGAGCGAGGGAGGGA AGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAGGGGA GGGAAGGGGAGGGAGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGGAGGGAGGGAGGAGGCAGGGAGGGGAGGGAGGGAG GGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGG GAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATG AAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0280 a0002c0007t0002g0280	1	72	0.0139	628	c.205 others(647): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTCCTCCCTCCCTCCCCTCCCCTCAC TTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCTCCCTCCCCTT CCCTCCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTG CCTTCCCTCCCTCGCTCCCTCACTTCCCTCCCTCCCTCCCCTCCCTTCCC TCTCCCTCCCTCCCTCCCCTCCCTCCTGCCTTCCCCCTCCCCCTCACTTC CTCCCTCCCTCCCCTCACTTCCTCCTCCTCCCTCCCCCCCTTCCCTCCCC TCCCTCCCTTCCCTCCCTCTCCCCCCTCCCTCCCTCCCTCCCTTCCCTCC TCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCCTGCCTACCTCCCTCCCC TCCCTTCCTTCCCTCACTCCCTCCTCCTCTCCCTTCCTTTCCTCCCTCCC TCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTT TC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(622): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	629	c.-10 others(640): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(622): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	629	c.-10 others(640): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(622): Show AACCACCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACC TGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACC ACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACAGACAC CTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGACACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0010 a0001c0003t0016g0010	2	301	0.0066	629	c.401 others(646): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCC TCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCCCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG G	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(622): Show CCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCC TCCAGACAACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGG CACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGA CAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACA GACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	311	0.0032	629	c.401 others(646): Show c.401+8844_401+8845insTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACG GGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACGGGCACCTC CCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCT GCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACAGACACCTCCCTCCT AATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTC CAGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA C	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(622): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTC ACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCT CCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0197 a0002c0002t0003g0197	1	204	0.0049	629	c.106 others(648): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGA AGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAG GGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAA AGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(622): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTTCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTC ACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCT CCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	204	0.0049	629	c.106 others(648): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGA AGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAAAAGACAGAAAGGGAGGGAGAGAGGGAGGGAGGGAG GGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAA AGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(622): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATATTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATATTTTTATATAA AATATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTATC ATATGCCATGATATACGTATATTATACATCATATATAAAAACATATTTTT ATATAAAATATCAGTATTTTATGTATACTATATGTGCTATATGATATACA CGTATCATATGCCATGATATACGTATATTATACATCATATATAAAAACAT ATTTTTATATAAAATTATCAGTATTTTATGTATATTATATGTGCTATATG ATATACACGTATCATATGCCATGATATACGTATATTATACATCATATATA AAAACATTTTTATATAAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	319	0.0031	629	c.181 others(646): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAATATACATAAAATACTGATAATTTTATATAAAA ATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATA CGTGTATATCATATAGCACATATAGTATACATAAAATACTGATATTTTAT ATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCAT ATGATACGTGTATATCATATAGCACATATAATATACATAAAATACTGATA TTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCA TGGCATATGATACGTGTATATCATATAGCACATATAATATACATAAAATA CTGATATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGT ATATCATGGCATATGATACGTGTATATCATATAGCACATATAATATACAT AAAATACTGATATTTTATATAAAAATATGTTTTTATATATGATGTATAAT ATACGTATATCATGGCATATGATACGTGTATATCATATAGCACATATCAT A	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19077.hp1 HG02698.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0249 a0001c0001t0002g0206 a0001c0001t0002g0249	2	204	0.0098	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGTCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0123 a0001c0001t0036g0123	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0201 a0001c0001t0012g0201	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(622): Show CCCTCCCGGACGGGGCGGATGGCTGGGTGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	203	0.0049	629	c.207 others(650): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGTGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCAGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGTCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112804045	C C	CCTCCTTT others(622): Show CCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCC TCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCC CCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCT GCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCAT TCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCAT TCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCC CCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCC CTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0177 a0003c0007t0005g0177	1	252	0.0040	629	c.163 others(644): Show c.163-912_163-911insCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTT CTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTT CTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTTC CCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCT TTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCT CCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCC TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
C2CD4C_chr19_400445_414147	410846	G G	GTCTGTCC others(622): Show GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGT CTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGATCTGTCCACCGTCACTGCTGGGCACGGATCCTTGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	278	0.0036	629	c.-18 others(640): Show c.-1882_-1881insTCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCAAGGATCCGTGCCCAGCAGTGACGGTGGACAGATCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGAC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGG TGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1700		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(622): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGATC CTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCT GGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCT GGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCA CCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGG GCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	108	0.0093	629	c.-23 others(640): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGA CGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTG CCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C4orf19_chr4_37448925_37598510	37585565	A A	AGGGGAGA others(622): Show AGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGG GGGAGAGGAGAGATTCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGGG AGAGGAAAGGTGTTGAGGGAGGGGAGGGGGAGAGGAGAGGTATGAGGGTG GGGAGGGAGAGGAGAGTGTTTGAGGGAAGAGAGGAGAGGTGTGAGGGAGG GTGAGGAGGAGAGGTGTTGAGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0126 a0002c0002t0011g0126	1	352	0.0028	629	c.-22 others(646): Show c.-22-3268_-22-3267insATATCGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAG GGGAGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATC GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGG AGGGGAGGGGGAGAGGAGAGATTCGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGGAGAGGAGAGGTA TGAGGGTGGGGAGGGAGAGGAGAGTGTTTGAGGGAAGAGAGGAGAGGTGT GAGGGAGGGTGAGGAGGAGAGGTGTTGAGGGAGGGGAGGGGGAGAGGAGA G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(622): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATTTATATA TATATATATAATTATATATATATATAAAATTATATATATAATTATATATA TATTATATATAATTATATATATATATTATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTTTATA TATATATAATTATATATATAATTTTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA ATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18747.hp1 HG02523.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0172 a0001c0001t0001g0180	2	95	0.0211	629	c.907 others(644): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATAAAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA ATTATATATATAAAATTATATATAATATATATATATAATTATATATAATA TATATATAATTATATATATAATTTTATATATATATATAATTATATATATA TATATAAATATATATAATTATATATATAAAATTATATATATAATTATATA TAATATATATATAATTATATATATAATTTTATATATATATATAATTATAT ATATATAAATATATATAATTATATATATATAAAATTATATATATAATTAT ATATATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(622): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATATAATTTT ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATATAATTATATATATAATTATATATATAATTTTATATAT AATTATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATATAT AATTATATATATTATATAATTTTATATATATAATTATATATATTATATAA TTATATATATAATTTTATATATATATAATTATATATACAATTTTATAATA TATATAATTATATATACAATTATATATATATATAATTATATATATATAAT TGTATATATAATTTTATATATATAATTATATATAATTTTATATATATATA ATTATATATATAATTATATATATATAATTATATATATTTATATATATATA TAATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATA ATTATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0169	1	249	0.0040	629	c.907 others(644): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATATAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATATAATTATATATATATAAAATTATATATATAATTAT ATATATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(622): Show GGCCCACCTTCCTGCCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCC TCGCCTGCCACAGCCCACCTTCCTGCCCCCCTCGCCTGCCACGGCCCACC TTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCC ACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCC CTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACC TTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCC ACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCC CTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACC TTCCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCC ACGGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCTCACCTTCCTGCCCC CTCGCCTGCCACGGCCCACCTTCCTGCCCCCCTCGCCTGCCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCA CAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0043 a0001c0059t0001g0043	1	106	0.0094	629	c.411 others(646): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCAGGCGAGGGGGGCAGGAAGGTGGGCCGTGGCAGGCG AGGGGGCAGGAAGGTGAGCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCC GTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGG AAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCG AGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCC GTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGG AAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCG AGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCC GTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGG AAGGTGGGCCGTGGCAGGCGAGGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGGCAGGAAGGTGGG C	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(622): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGTTA TATATACTACTATATATACTACTATATATAGTATATACTATATATACACT ATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTATAT ACTATATATACACTATATATAGCATATATACTATATATACACTATATATA GTAGTTATATATACTATATATACACTATACATACACTATATATAGTTTAT ATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTTTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0363 a0001c0012t0001g0363	1	374	0.0027	629	c.349 others(644): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTAT ATACTATATATACACTATATATAGCATATATACTATATATACACTATATA TAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTTT ATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTAGTTATATATACTATATATA CTATATATAGTTTATATATATACTATATATAGTATATATAGTAGTTATA	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(622): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	12	0.0833	629	c.-45 others(650): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCC TCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065079	G G	GTGATAGT others(622): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATGATAGTA TTAAGAGGTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGAT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0278 a0001c0009t0075g0278	1	332	0.0030	629	c.-25 others(640): Show c.-2563_-2562insTCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCATCA CCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCTTAATACT ATCATCACCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2214		chr11	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	102	0.0098	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp2 others(66): Show HG00140.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG01106.hp2 HG01167.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0006t0002 a0001c0012t0002 a0010c0009t0002	a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0026 others(66): Show a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0006g0149 a0001c0001t0006g0164 a0001c0001t0006g0170 a0001c0001t0006g0178 a0001c0001t0006g0184 a0001c0001t0006g0226 a0001c0001t0012g0201 a0001c0006t0002g0153 a0001c0006t0002g0154 a0001c0012t0002g0161 a0010c0009t0002g0217	69	170	0.4059	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCTGCCCGGCCAGCTGCCCTGTCTGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	102	0.0098	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCAGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(622): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG00621.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0302 a0001c0002t0001g0052 a0001c0001t0001g0302 a0001c0002t0001g0052	2	103	0.0194	629	c.737 others(648): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT CCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(622): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGG GGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGA GGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	164	0.0061	629	c.923 others(648): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCC TCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCC TCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(622): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	325	0.0031	629	c.-42 others(640): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCCACCCC others(622): Show CCCACCCCCACCCGCACCCGCACCCCCACCCCGCACCCCGCACCCCCCAC CCCCACCCCGCACCCCGCCACCCCCACCCCCACCCCCACCCCCCACCCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAGCCCCC CCACCCCGCACCCCCACCCCCACCCCCACCCCCCTCCCCCCACCCCCACC CGCCACACCCGCACCCCCACCCCGCACCCCGCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCTCACCACCCACCCCGCACCCCCACCCCCACCCC ACCGCCCCGCACCCCCACCCCCACCCCCACCCGCACCCTCCCACCCCCCA CCCCCCCACCCGCACCCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCGCACCCCCCACCCCGCACCCC CACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCCACCCCCACCCGC ACCCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCC ACCCCACCCCGCACCCCCCACCCCCACCCACCACCCCCACCCTCACCCGC ACCCGCCACCCCCACCCTCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0063 a0001c0026t0001g0063	1	264	0.0038	629	c.39 others(640): Show c.3990_*3991insAGGGTGGGGGTGAGGGTGGGGGTGGCGGGTGCGG GTGAGGGTGGGGGTGGTGGGTGGGGGTGGGGGGTGCGGGGTGGGGTGGGG GGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGGTGCGG GTGGGGGTGGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGG TGCGGGGTGGGGGGTGCGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGGTGCGGGTGGGGGGGTGGG GGGTGGGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGGCGGTGGGG TGGGGGTGGGGGTGCGGGGTGGGTGGTGAGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGGTGCGGGGTGGGGGTGCGGGTGTGGCGGGTG GGGGTGGGGGGAGGGGGGTGGGGGTGGGGGTGGGGGTGCGGGGTGGGGGG GCTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG GTGGGGGGTGGGGGTGGGGGTGGGGGTGGCGGGGTGCGGGGTGGGGGTGG GGGGTGCGGGGTGCGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(622): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACC ATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCC CACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCA CCACCACCACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0004 a0001c0050t0004	a0001c0050t0004g0059 a0001c0050t0004g0059	1	68	0.0147	629	c.323 others(648): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCA CCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACC ACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCAT CAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(622): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCTTCACCATCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0098 a0002c0098	a0002c0098t0002 a0002c0098t0002	a0002c0098t0002g0121 a0002c0098t0002g0121	1	68	0.0147	629	c.323 others(648): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCTCCACCTCCACCATCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCACCAT CAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EGFR_chr7_55014017_55216628	55167504	G G	GTGGTGGT others(622): Show GTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTG GTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTG TTACTGGTGGTGACGAGGTGGGAGTCACAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0060 a0001c0004t0060	a0001c0004t0060g0106 a0001c0004t0060g0106	1	232	0.0043	629	c.188 others(648): Show c.1880+2195_1880+2196insGGAGTCACAATGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGAT GGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACT GGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315868	C C	CCACACCC others(622): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCACACACAC CCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	194	0.0052	629	c.259 others(648): Show c.259+22148_259+22149insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(622): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	129	0.0078	629	c.259 others(648): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGAT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(622): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	129	0.0078	629	c.259 others(648): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGAT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137329429	G G	GGGGTCAC others(622): Show GGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGGTCACATGGGGCTACACGGGACTACACGGGACTACACGGGACTACAC GGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACAC GGGGTCACACGGGACTACACGGGACTACAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	79	0.0127	629	c.199 others(648): Show c.1999-5287_1999-5286insGTGTAGTCCCGTGTAGTCCCGTGTGA CCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGA CCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCATGTGA CCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAG TCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGA CCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261873	G G	GTGACCCT others(622): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	277	0.0036	629	c.571 others(646): Show c.571+4684_571+4685insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC A	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(622): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	242	0.0041	629	c.571 others(646): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC A	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(622): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCACAGTGCTACACATGCC TCATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCT GCACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACG TGTGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACAC CACACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATC ACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCC TCATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0126 a0001c0001t0009g0127	2	232	0.0086	629	c.25 others(640): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAC AGTGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCA TGCCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATG CGTACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGA CACGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGT GCACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTC AGTGCTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar

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