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
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(715): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATATATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATAAATATATATATTTATATATAAATATATATATT TATATATATATTTATATATAAATATATATATTTATATATAAATATATATA TTTATATATATAAATATATATATTTATATATATAAATATATATATATTTA TATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTA TATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAA TATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	95	0.0105	722	c.-97 others(739): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATATAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATAAATATATATATAAATATATATATTTATATATAAATAT ATATATTTATATATATATTTATATATAAATATATATATTTATATATAAAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTAT ATATAAATATAAATATATATTTATATATAAATATAAATATATAT	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(715): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0043 a0001c0003t0040g0043	1	169	0.0059	722	c.-97 others(739): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775124	G G	GGAGAGAG others(715): Show GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGG CAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAG GAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG02258.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0001g0004 a0001c0001t0001g0092	2	195	0.0103	722	c.978 others(739): Show c.978-2544_978-2543insAGAGGGGCAGGGAGGAGAGAGGGGCAGA GAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(715): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACAAACACAACCACACACACCAC ACATACCACACACACACCACACACGCCACACAACGGACCACACATACACC ACACACCACAAACACAACCACACACACACTATACACACACACCACACACA CCACACAACAGACCACACATACACACACCACACACCACAAACACACACCA TACACACACACCACACATACCACACACACCACACACACAACCACACACAC ACACCACACACACAACACACAACAGACCACACATACACACACCACAAACA CAACCACACACACCACACATACCACACACACACCACACACACAACCACAC ACACCACACCATACACACAACCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0122 a0001c0008t0122	a0001c0008t0122g0094 a0001c0008t0122g0094	1	9	0.1111	722	c.203 others(739): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGGTTGTGTTT GTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTG TGTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTG TGTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGT GTGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGT ATGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTATGTGTGGT GTGTGTGGTTGTGTTTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGT GTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTG GTGTGTGTGTATGGTGTGTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGT CTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGT TTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGT GTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGATTTGTGTGGTG TGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGG TGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GGACCCCT others(715): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCTACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCC CGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	100	0.0100	722	c.-68 others(731): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTAGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGG ACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		625		chr11	TogoVar
LMF1_chr16_848634_975984	859824	T T	TCGGGACG others(715): Show TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGTGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC GAGTGGTGTCTCGGGACGGGTGCGAGTGGTTTCACGGGAGGGGTGCGAGT GGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGT GGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGT CTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGCAGTGATGTCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0100 a0001c0020t0001g0100	1	278	0.0036	722	c.153 others(741): Show c.1530-5119_1530-5118insTGACATCACTGCACACCCATCCCGAG ACACCACTCACACCCATCCCGAGACACCACTGCACACCCACCCCGAGACA CCACTGCACACCCACCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTGCACACCCACCCCGAGACACCACTCACACCCACCCCGAGACACCACT CACACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACT CGCACCCCTCCCGTGAAACCACTCGCACCCGTCCCGAGACACCACTCGCA CCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTC ACGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186952	G G	GGAGGAAC others(715): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	303	0.0033	722	c.22 others(733): Show c.2245_*2246insTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2037		chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(715): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGG AGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGG GAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0200 a0002c0002t0004g0200	1	8	0.1250	722	c.250 others(737): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTAC CCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCC CCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCCTTCC CCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCC CTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(715): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTTCTCAGACGGAGTCTCGCTCTGT CGCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACT ACAGGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCG CGCCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTT TGGATAAATTGCTGTTTTAAAGCATTACAGAGGGCCAGGTGCGGTGGCTC ACACCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02717.hp1 HG01243.hp1 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0093 a0001c0001t0009g0040 a0001c0001t0009g0093	3	297	0.0101	722	c.39 others(733): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTAATGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAA CACATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTC TGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGC AACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCC TCCCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTT GGTATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCT AATTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(715): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCT CCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	4	0.2500	722	c.114 others(741): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370322	C C	CCCCCGGC others(715): Show CCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGC TCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	392	0.0026	722	c.-7- others(733): Show c.-7-98_-7-97insCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(715): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	156	0.0064	722	c.358 others(739): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NFATC1_chr18_79390930_79534323	79494355	G G	GCCCCCCA others(715): Show GCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGAACGGGCACACGCCC CCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAA CCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGT ACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCGACCTGGTGTGGC CGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCG GGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCCGGG GGAAGGCGAGAGCGGGCACACGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01517.hp2 HG02486.hp2 others(4): Show HG00733.hp2 HG01517.hp2 HG02486.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0027 a0001c0029 a0001c0053 others(1): Show a0001c0027 a0001c0029 a0001c0053 a0003c0007	a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 others(1): Show a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 a0003c0007t0008	a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 others(4): Show a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0053t0003g0183 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031	7	313	0.0224	722	c.278 others(741): Show c.2782+7427_2782+7428insAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGA ACGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGG GCACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCAT CGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCG ACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAAC CTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(715): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATGTA TACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATA TATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACAATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGT ATATATACACAATACAGTATGTATACTGTATATATACACACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0163 a0002c0006t0006g0163	1	118	0.0085	722	c.-75 others(741): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGT ATTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCA GTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATATAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACATACAGTATACATACATACAGTATACATACATACAGTATAC ATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACAGT ATACATGCTGTACATATATACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685848	C C	CCCAGCCT others(715): Show CCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACA GGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCA GCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACAC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	337	0.0030	722	c.981 others(739): Show c.981+2163_981+2164insCGGGGGACGTTGGGAGGGTCCCTGGGGG CCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGT TGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGG GCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTT CTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCC CGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGA GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTC TGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAG CTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGA GGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGG GGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCT GTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTG TGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGGACGTTGGGAG GGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811210	C C	CCCTTCCT others(715): Show CCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCTTCC CTTCCTTCCTTCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0137 a0001c0001t0011g0137	1	170	0.0059	722	c.773 others(737): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CCTCCCTCCTTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(715): Show GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0252	1	305	0.0033	722	c.143 others(737): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370322	C C	CCCCCGGC others(715): Show CCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGC TCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0102 a0002c0005t0005g0102	1	374	0.0027	722	c.16 others(733): Show c.1664_*1665insCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		465		chr16	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(715): Show TCCTCCCTCCCTCCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTG CCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCTCTGCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCC TTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCC TTCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	140	0.0071	722	c.309 others(741): Show c.3095-4693_3095-4692insCCCTCCCCTCCCTCCCTGCCTTCCTC CCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCT CCCTCCCTCCTCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCC TCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCC TCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTGCCTTCCTCCCTTCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RFC1_chr4_39282456_39371362	39348422	C C	CAGAAAAG others(715): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	268	0.0037	722	c.132 others(739): Show c.132+2925_132+2926insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(715): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	287	0.0035	722	c.-8- others(739): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTT TCCATCCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCA TCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATC CCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACA TCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCC TACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCAT CCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCC CATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(715): Show CCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0002 a0002c0054t0002	a0002c0054t0002g0101 a0002c0054t0002g0101	1	63	0.0159	722	c.199 others(741): Show c.1994+2071_1994+2072insCACGCAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4264582	G G	GAGGGAGG others(715): Show GAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTC TCCTGAGTGGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAAGCCGTGT GGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGG AGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTGG GGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTAGAC CTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCG CGTAGACCTCTCCTGAGTGAGGGTGGCCGCGTAGAACTCTCCTGAGTGGG GGAGGCCGCGTAGACCTCTCCTGAGTAGGGAGGCCACGTAGACCTCTCCT GAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACC TCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGC GTAGATCTCTCCTGAGTGAGGAGGCCGTGTAGATCTCTCCTGAGTGAGGG AGGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGCGTGGACCTCTCCT GGGGTAAGGAAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGG ACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGG CCGCGTGGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0034 a0001c0095 a0001c0034 a0001c0095	a0001c0034t0028 a0001c0095t0029 a0001c0034t0028 a0001c0095t0029	a0001c0034t0028g0098 a0001c0095t0029g0050 a0001c0034t0028g0098 a0001c0095t0029g0050	2	75	0.0267	722	c.638 others(739): Show c.6382-542_6382-541insAGGGAGGCCGCGTGGACCTCTCCTGAGT GAGGGAGGCCGCGTGGACCTCTCCTGAGTGGGGAGGCCGCGTGGACCTCT CCTGAGTGAGGGAAGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTG TAGACCTCTCCTGAGTGAGGGAGGCTGCGTAGATCTCTCCTGAGTGGGGA GGCGGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTG AGTGAGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGAC CTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGTGGCCG CGTAGAACTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTAGG GAGGCCACGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTG AGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCT CTCCTGAGTGAGGGAGGCCGCGTAGATCTCTCCTGAGTGAGGAGGCCGTG TAGATCTCTCCTGAGTGAGGGAGGCCGTGTGGACCTCTCCTGGGGTAAGG AAGGCCGCGTGGACCTCTCCTGGGGTAAGGAAGGCCGCGTGGACCTCTCC TGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGG ACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0260 a0001c0003t0003g0260	1	179	0.0056	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01081.hp2 HG01496.hp2 others(13): Show HG00733.hp1 HG01081.hp2 HG01496.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0003	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0008g0200 a0001c0001t0008g0263 a0001c0003t0003g0010 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0256 a0001c0003t0003g0258 a0001c0003t0003g0261	16	194	0.0825	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCATGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0259 a0001c0003t0003g0010 a0001c0003t0003g0259	2	180	0.0111	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCATGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0117 a0001c0001t0010g0117	1	179	0.0056	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCACTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01361.hp1 others(2): Show HG01109.hp2 HG01255.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0087 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0087 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0197	5	183	0.0273	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	179	0.0056	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAATAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02683.hp1 HG01099.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0152 a0001c0001t0005g0148 a0001c0001t0005g0152	2	180	0.0111	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAATAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0027 a0001c0004t0002g0027	1	179	0.0056	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAACAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAACAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	179	0.0056	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAACAAAAAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(715): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGG CAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	208	0.0048	722	c.115 others(739): Show c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCT CCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCC CACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGC CCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCC CCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCT GCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(715): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCA GGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	208	0.0048	722	c.115 others(739): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC CGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCC CTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGC CCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCC CCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCT GCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGT GCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(715): Show ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG GAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTG GGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCG GGAGGGGCAGGGCGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0347 a0001c0001t0002g0347	1	315	0.0032	722	c.115 others(739): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTC CCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCA GGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SPAAR_chr9_35904490_35916686	35914071	T T	TGTGTGTG others(715): Show TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02155.hp1 NA19056.hp2 HG02080.hp2 HG02155.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0003t0002 a0001c0001t0002 a0001c0001t0012 a0001c0003t0002	a0001c0001t0002g0002 a0001c0001t0012g0002 a0001c0003t0002g0002 a0001c0001t0002g0002 a0001c0001t0012g0002 a0001c0003t0002g0002	3	340	0.0088	722	c.33 others(733): Show c.3380_*3381insGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTATTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTGTTTGTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2386		chr9	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(715): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	338	0.0030	722	c.63 others(733): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCACCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(715): Show ACCATCCCCCATCGTATCCACCCACCCATCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCC ACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCT ATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCCCC ATCCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCC CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCC CCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCAC CCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCAC CCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCC ACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCT ATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCC ACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCT ATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCA CCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02615.hp1 others(7): Show HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02897.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037	a0001c0001t0002g0167 a0001c0001t0003g0239 a0001c0001t0007g0023 others(7): Show a0001c0001t0002g0167 a0001c0001t0003g0239 a0001c0001t0007g0023 a0001c0001t0007g0148 a0001c0001t0013g0163 a0001c0001t0015g0005 a0001c0001t0017g0029 a0001c0001t0029g0026 a0001c0001t0030g0169 a0001c0001t0037g0154	10	37	0.2703	722	c.113 others(741): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA TCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCA CCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCC ACCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCAT CCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCA TCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACC CACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCA CCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCC TCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATC CACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTC CACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATC CACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACC CACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGGTGA others(715): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCAC AGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0253 a0001c0004t0008g0253	1	313	0.0032	722	c.299 others(739): Show c.299-1312_299-1311insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAG CTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(715): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATATAATACACATTA TATATTATATATAATACACATTATATATATAATACACATTATATATTATA TATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	82	0.0122	722	c.62 others(733): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATA TATAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATA ATGTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGT ATTATATATTTTAGATATATATAATGTATAATATGTATATAATATATAAT ATATAATATGTATATAATATATAATATGTATATAATATATAATATATAAT ATGTATATAATATATAATATATAATATGTATATTATATATAATATATAAT ACATATAATATGTATATTATATATATAATATATAATATATAATACATATA ATATGTATATTATATATATAATATATAATATATAATACATATAATATGCA TATTATATATAATATATTATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(715): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATATAATACACATTATATATTATA TATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0027 a0002c0005t0001g0027	1	82	0.0122	722	c.62 others(733): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATA ATGTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGT ATTATATATTTTAGATATATATAATGTATAATATGTATATAATATATAAT ATATAATATGTATATAATATATAATATGTATATAATATATAATATATAAT ATGTATATAATATATAATATATAATATGTATATTATATATAATATATAAT ACATATAATATGTATATTATATATATAATATATAATATATAATACATATA ATATGTATATTATATATATAATATATAATATATAATACATATAATATGCA TATTATATATAATATATTATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THBS2_chr6_169210785_169258846	169242618	C C	CTCCACCT others(715): Show CTCCACCTTCCCACCTTCCTATCTTCCCATCTTCCCACCTTCCCACCACT CCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCAC TCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCACCTTCCCACCACTC CCACCTTCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCATCTTCCC ACCTTCCCACCACTCCCACCTCCCACCTTCCACCTTCCCACCGCTCCCAC CTTCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCT TCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCACCT TCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCACCACTC CCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCAC CTTCCCACATTCCCACCTTCCCACCACTCCACCTTCCCACCTTCCCACCT TCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTT CCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTC CCACCACTCCCACCTTCCCACCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	379	0.0026	722	c.695 others(737): Show c.695-661_695-660insAGGTGGGAAGGTGGGAGTGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGG GAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGG AAGGTGGGAAGGTGGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAG GTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGT GGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGAAGGTGGGAG CGGTGGGAAGGTGGAAGGTGGGAGGTGGGAGTGGTGGGAAGGTGGGAAGA TGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGAAGGTGGGAGTGGT GGGAAGGTGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGTGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTG GGAAGGTGGGAAGATGGGAAGATAGGAAGGTGGGAAGGTGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS3_chr1_155190588_155212897	155191105	C C	CGCGGTGG others(715): Show CGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGT GGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTC CGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCC GGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGG AGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGG GGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACC GTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCG AGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTC TCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGC CGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGG GGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACC GTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCG AGGTGACACCGTGGGCTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	192	0.0052	722	c.47 others(733): Show c.4735_*4736insCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGAC ACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCC GCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTC CACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGG CCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAG AGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCC CCCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCT CCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCC GGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGG AGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACC TCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4482		chr1	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GGACCCCT others(715): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCTACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCC CGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	98	0.0102	722	c.23 others(733): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTAGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGG GGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2095		chr11	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	212	0.0047	722	c.34 others(733): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCA ACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTA GCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTT AGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGAC CTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01496.hp1 others(14): Show HG00733.hp2 HG01081.hp1 HG01496.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0016	a0001c0001t0003 a0001c0005t0007 a0001c0006t0006 others(3): Show a0001c0001t0003 a0001c0005t0007 a0001c0006t0006 a0001c0007t0001 a0001c0011t0001 a0001c0016t0001	a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0003g0153 others(7): Show a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0003g0153 a0001c0005t0007g0040 a0001c0006t0006g0038 a0001c0006t0006g0190 a0001c0007t0001g0030 a0001c0007t0001g0048 a0001c0011t0001g0024 a0001c0016t0001g0117	17	228	0.0746	722	c.34 others(733): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCA ACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTA GCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTT AGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGAC CTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCATGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0150 a0001c0001t0003g0151	2	213	0.0094	722	c.34 others(733): Show c.3482_*3483insGGATAACAGGCATGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCA ACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTA GCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTT AGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGAC CTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	212	0.0047	722	c.34 others(733): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCTGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTGTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCA ACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTA GCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTT AGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGAC CTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCACTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01361.hp1 others(3): Show HG01109.hp1 HG01255.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0003 a0001c0002t0001g0132 a0001c0002t0001g0158 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0132 a0001c0002t0001g0158 a0001c0010t0001g0156 a0001c0010t0001g0161	6	217	0.0276	722	c.34 others(733): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGTGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTGTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCA ACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTA GCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTT AGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGAC CTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0020 a0001c0004t0002g0020	1	212	0.0047	722	c.34 others(733): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGTCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTGTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCA ACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTA GCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTT AGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGAC CTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar

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