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
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCCGC others(470): Show GTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCA CCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTC TTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGT ACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCC TGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCA CCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGT ACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0003 a0001c0001t0016g0003	1	185	0.0054	477	c.139 others(496): Show c.1396-1112_1396-1111insTACCCGCCTCACCTCCTCCTGCACTC CCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTC CTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCC CTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCT CCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCT CCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCT CACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT A	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(470): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	187	0.0053	477	c.-50 others(488): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803147	T T	TGGGGGCC others(470): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAG GGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0048 a0001c0008t0005g0048	1	93	0.0108	477	c.-50 others(488): Show c.-5050_-5049insGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCGGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4800		chr9	TogoVar
RBFOX3_chr17_79084345_79616051	79495485	A A	AAGGTGGG others(470): Show AAGGTGGGGGAGGGGTGCAGGGGGTGGGGAGGTGGGGGAAAGGGTACTGG GGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGGCAGGGGTACTGGGGCAGGGATGGGGGTGCGGGAAGGTGGGG GAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGGGCAGGGAT GGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGC AGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCA GAGGGGGGGGAGGTGGGGGCAGGGGTACTGGGGCAGGGATGGGGGTGCGG GAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTG GGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGGAGGGGTGCAGAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0024 a0001c0001t0009g0024	1	142	0.0070	477	c.-31 others(498): Show c.-319-12888_-319-12887insCCCCACCCTCTGCACCCCTCCCCC ACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCCCATCCCT GCCCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCAC CTTCCCGCACCCCCATCCCTGCCCCAGTACCCCTGCCCCCACCTCCCCCC CCTCTGCACCCCTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTAC CCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCAT CCCCATCCCTGCCCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACC CCTCCCCCACCTTCCCGCACCCCCATCCCTGCCCCAGTACCCCTGCCCCC ACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCCCATCCCT GCCCCCAGTACCCTTTCCCCCACCTCCCCACCCCCTGCACCCCTCCCCCA CCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAGGAA others(470): Show AAAAGGAAAGGAAAGGAAGGGAAAGGGAAGGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGAAAGGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0249	1	264	0.0038	477	c.132 others(494): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCCTTTCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCCTTCCCTTTCCCTTCCTTTCCTTTCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF223_chr1_1065967_1079306	1076699	G G	GCGGGGTG others(470): Show GCGGGGTGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCCTATGGGGACTCCATGGGGGGAGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGCTCGGAGGGGAGGCTGAGGCTA TGGGGACTCCGTCGGGGGAGCTGAGGCTATGGGGACTCCGTCGGGGGAGG CTGAGGCTAGGGACTCCGTGGGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGG ACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGA GGCTATGGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGAGGCTGAGGCTATGGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	320	0.0031	477	c.-26 others(488): Show c.-2694_-2693insACGGAGTCCCCCATAGCCTCAGCCTCCCCCACGG AGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCATA GCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGG AGTCCCCATAGCCTCAGCCTCCCCCACGGAGTCCCTAGCCTCAGCCTCCC CCGACGGAGTCCCCATAGCCTCAGCTCCCCCGACGGAGTCCCCATAGCCT CAGCCTCCCCTCCGAGCGGAGTCCCCATAGCCTCAGCCTCCCCCCACGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCTCCC CCCATGGAGTCCCCATAGGACTCAGCCTCCCGGCACGGAGTCCCCATAGA CTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCACCCCG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2394		chr1	TogoVar
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAGAC others(470): Show TCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGACCCCAGACCTCAGA CCCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCTCAGACCCCAGAT CCCAGACCCCAGATCCTAGATCTCAGACCCCAGATCTCAGACCCCAGACC CCAGATCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGATCCCAGACC TCAGACCCCAGATCTCAGACCCCAGATCTCAGACCCCAGATCCCAGATCC CAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCCAGATC CCAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGATC TCAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGACC CCAGACCCCAGATCCCAGACCCCAAACCTCAGACCCCCAGATCCCAGACC CCAGATCACCAGATCTCAGACCCCAGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	12	0.0833	477	c.-12 others(496): Show c.-127+8126_-127+8127insGTCTGGGGTCTGAGATCTGGTGATCT GGGGTCTGGGATCTGGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCT GGGGTCTGAGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCT GAGATCTGGTGATCTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCT GGGATCTGGGGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTT TGGGATCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCT GAGGTCTGGGATCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCT GGGGTCTGGGGTCTGAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTG GGATCTGGGGTCTGAGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGG GGTCTGAGGTCTGGGGTCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGG G	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(470): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	322	0.0031	477	c.101 others(496): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431886	C C	CAGGGTGG others(470): Show CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGATGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGATGGTTAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	181	0.0055	477	c.101 others(496): Show c.1014-1073_1014-1072insCAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGATGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGG A	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431949	T T	TAGGGTGG others(470): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGTGAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0220 a0002c0006t0008g0220	1	334	0.0030	477	c.101 others(496): Show c.1014-1011_1014-1010insATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTGA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432048	C C	CAGGGTGG others(470): Show CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGA GGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGA TAGGGTGGACAGGGTGGAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0193 a0001c0004t0003g0193	1	241	0.0041	477	c.101 others(494): Show c.1014-911_1014-910insTAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGACAGGG TGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432079	G G	GTGGATAG others(470): Show GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0250 a0001c0003t0004g0250	1	356	0.0028	477	c.101 others(494): Show c.1014-885_1014-884insATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTG GATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36642163	C C	CTCTCAAA others(470): Show CTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAG CAGGCTTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTG TTATTGGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGT TGCTGAGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGA GCACTTAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGT TTAGGAGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACA AAAGAAACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCC AGCTATTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGG GAGATGGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCA CTCCAGCCCAGGCAAGAGTGAGACGCTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00741.hp1 others(18): Show HG00408.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01261.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03927.hp1 HG04115.hp1 NA18906.hp2 NA18994.hp1 NA19063.hp1 NA19063.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0003c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0130 others(18): Show a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0303 a0001c0001t0002g0039 a0001c0001t0002g0208 a0001c0001t0007g0213 a0003c0003t0001g0053	21	154	0.1364	477	c.-43 others(492): Show c.-43-786_-43-785insCAGCGTCTCACTCTTGCCTGGGCTGGAGTG CAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATCTCCC AAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAGCTGG GATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCTTTTG TAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCTAAAC TCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGTGCTC GGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAGCAAC TCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAATAACA GTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCCTGCT CAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTTTGAGA	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(470): Show CAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTA TTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGAT GGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCA GCCCAGGCAAGAGTGAGACGCTGTCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(74): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18997.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0003c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 others(74): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0218 a0001c0001t0002g0313 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0005g0006 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0009g0026 a0003c0003t0001g0058	77	321	0.2399	477	c.-43 others(492): Show c.-43-790_-43-789insTGAGACAGCGTCTCACTCTTGCCTGGGCTG GAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCAT CTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATA GCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTC TTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCC TAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAG TGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCA GCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAA TAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGC CTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(470): Show CAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTA TTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGAT GGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCA GCCCAGGCAAGAGTGAGATGCTGTCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp1 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0304 a0001c0001t0007g0305	2	246	0.0081	477	c.-43 others(492): Show c.-43-790_-43-789insTGAGACAGCATCTCACTCTTGCCTGGGCTG GAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCAT CTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATA GCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTC TTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCC TAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAG TGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCA GCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAA TAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGC CTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(470): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC TACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTC CACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG00099.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0061 a0002c0002t0002g0049 a0002c0002t0002g0061	2	90	0.0222	477	c.688 others(494): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTC CACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(470): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCACCTC CACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02055.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0007 a0001c0008 a0002c0007	a0001c0008t0002 a0002c0007t0002 a0001c0008t0002 a0002c0007t0002	a0001c0008t0002g0122 a0002c0007t0002g0073 a0001c0008t0002g0122 a0002c0007t0002g0073	2	90	0.0222	477	c.688 others(494): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTC CACCTCCACCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(470): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTC CACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01069.hp2 others(8): Show HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01943.hp1 HG04228.hp1 NA18948.hp1 NA18948.hp2 NA18984.hp1 NA18984.hp2 NA19011.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0006 others(3): Show a0001c0001 a0001c0003 a0002c0006 a0002c0007 a0003c0012 a0004c0010	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0002c0006t0001 a0002c0007t0009 a0002c0007t0018 a0003c0012t0013 a0004c0010t0002	a0001c0001t0001g0156 a0001c0003t0001g0011 a0001c0003t0001g0013 others(8): Show a0001c0001t0001g0156 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0003g0022 a0001c0003t0003g0024 a0002c0006t0001g0141 a0002c0006t0001g0143 a0002c0007t0009g0050 a0002c0007t0018g0120 a0003c0012t0013g0136 a0004c0010t0002g0123	11	99	0.1111	477	c.688 others(494): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTC CACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(470): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA ATATAAATATATTATATATTATATAAATATAAATATATTATATATTATAT AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTATATATATTATATATAATATAA ATATATTAATATATTATATATAATATAAATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0315 a0002c0002t0001g0315	1	132	0.0076	477	c.-70 others(494): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATATAATATATTTATATTATATAT AATATATAATATATTTATATTTATATATAATATATAATATATTTATATTT ATATAATATATAATATATTTATATTTATATAATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTATATATAATATATATAAT ATATTTATATTATATATAATATATATAATATATTTATATTATATATAATA TATATAATATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(470): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	210	0.0048	477	c.12+ others(492): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(470): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATACACATATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	210	0.0048	477	c.12+ others(492): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATA CACATATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACAATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	CATATATT others(470): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	104	0.0096	477	c.12+ others(489): Show c.12+3672delTinsCATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827147	T T	CATATATT others(470): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	100	0.0100	477	c.12+ others(492): Show c.12+3700_12+3701insCATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACAT ATAGTTTATATAATATATAAACATATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(470): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAAGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGG GAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGA GGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGGAGGGGGAAGG GGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGG GGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	12	0.0833	477	c.34 others(486): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCACCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCK3_chr4_166728384_167239494	167108978	T T	TATATTTA others(470): Show TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATAAAAATATATATTTATATAAAAA TATATAAAAATATATATTTATATAAAAATATGTATAAATATATATTTATA TAAAAATATGTATAAATATATATTTATATATAAATATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0041 a0001c0007t0002g0041	1	133	0.0075	477	c.190 others(496): Show c.190-46442_190-46441insTATATTTTTATATAAATATATATTTA TATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATATTTATATATAAATATATATTTATACATATTTT TATATAAATATATATTTATACATATTTTTATATAAATATATATTTTTATA TATTTTTATATAAATATATATTTTTATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATA T	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(470): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCCCCCCACCATCTCCCATCCT ATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCC ATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCAT CATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCAT CATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCA TCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCT ACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCT ACCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	28	0.0357	477	c.113 others(496): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCC ACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCATCC ACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACA CCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCA CTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACT CACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACC CATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC C	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGCGGGA others(470): Show AGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTC ATGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGGACAGCAGAGC TCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCG GGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0115 a0003c0006t0001g0115	1	220	0.0045	477	c.299 others(494): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGA GCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCAT GAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTAC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(470): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCCCCACAA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	276	0.0036	477	c.228 others(496): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG T	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377496	T T	TCTGTGCC others(470): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	263	0.0038	477	c.-15 others(488): Show c.-1527_-1526insGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1471		chr19	TogoVar
THOC1_chr18_209520_273047	219172	C C	CAAAATAA others(470): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAAATAAC CAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGC AGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTG AGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGAC AAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGAT GGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGAT TGTGGGCATGTGTTCCCTGAGCGGTACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	22	0.0455	477	c.137 others(494): Show c.1371-204_1371-203insTGTACCGCTCAGGGAACACATGCCCACA ATCTTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCC ATCCTCACTGGTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTT GTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCT CACTGGTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGTCCT GCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCTCACTG GTTATTTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGTCCTGCCA CCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCTCACTGGTTA TTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGTCCTGCCACCACT TTATGAGTATTTATTATTAAGAGTATATGCCATCCTCACTGGTTATTTT	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
TMEM163_chr2_134450759_134724000	134607230	A A	AAGGACAG others(470): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCTTGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAG GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT ACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	213	0.0047	477	c.323 others(496): Show c.323-55140_323-55139insCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCA GTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTG TCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTC ACCAGCACAGTTCTCAAGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC T	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM178B_chr7_141069064_141485380	141337026	T T	TCACCACC others(470): Show TCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGCATC ACCACCATCACCACCACCACCATCACCACCAGCATCACCACCATCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA GCATCACCACCATCACCACCATCACCACCACCACCACCATCACTACCACC ACCATCACCACCACCACCATCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0019	1	50	0.0200	477	c.497 others(498): Show c.497-100568_497-100567insTCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCAGCATCACCACCATCACCACCACCACCATCACCACCAGCATCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCAGCATCACCACCATCACCACCATCACCACCACCACCACCA TCACTACCACCACCATCACCACCACCACCATCATCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM18_chr2_658877_682406	671353	C C	CCCTCCTG others(470): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCTTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCTTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCG GGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCAT CCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTG CATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCC CTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAG GCCCTGCATCCGGGAGGAGAGGCAGGGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	200	0.0050	477	c.233 others(494): Show c.233+1454_233+1455insACCCTGCCTCTCCTCCCGGATGCAGGGC CTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAG GGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATG CAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGG ATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCC CGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCC TCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTC TCCTCCCGGATGCAAGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGC CTCTCCTCCCGGATGCAAGGCCTTCACATGGTTCAGTCCCAGGAGGACCC TGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGG	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(470): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCACAGTGCCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGT GTACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCC TCATCAGAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCA GTGTGCACTCACCCGGCCTCATCATAGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	205	0.0049	477	c.327 others(494): Show c.327+7840_327+7841insCCTATGATGAGGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTCTGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGGCACTGTGA TGAGGCTAGGTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCA CACACTGGGGCACTATGATGAATCTAGGTGATCGGATACTGGGCCACTAT GATGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAG TGCTCACTGGGACACTATGATTAGGCCAGGTGAGTGCACACTGGGGCACT ATGATGAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTG AGTGCACACTGGCACACTATGATGAGGCTAGGTTAGCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TPK1_chr7_144446941_144841053	144780648	T T	TAGTATAT others(470): Show TAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATT ATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATTATATTATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTA TATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATA ATATAGTATAGTATATTATATAGTATATAATATAGTATAGTATATTATAT AGTATATAATATAGTATAGTATATTATATAGTATATAATATAGTATAGTA TATAGTATATTATATACTATACTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	111	0.0090	477	c.44- others(494): Show c.44-14698_44-14697insTATATAGTATAGTATATAATATACTATA TACTATACTATATTATATACTATATAATATACTATACTATATTATATACT ATATAATATACTATACTATATTATATACTATATAATATACTATACTATAT TATATACTATATAATATAATATACTATATTATATACTATATAATATAATA TACTATATTATATACTATATAATATAATATACTATATTATATACTATATA ATATAATATACTATATTATATACTATATAATATAATATACTATATTATAT ACTATATAATATAATATAATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATACTATATTATATACT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507285	C C	CATACGTA others(470): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAT ATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	383	0.0026	477	c.-23 others(494): Show c.-23+2762_-23+2763insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTATGTATAATACATGTATATATACATATATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151450	T T	TGAGAAGG others(470): Show TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTG AGAAGGGGAGTGAGAGTGGGGATGAGAAGAGGAATGAGAGTGGGGGTGAG AAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTTGAGAAGGGG AGTGAGAGAGGGTTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGAGGAATG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGTGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGAGAAGGGGATTGAGAGA GAGGGTGAGAAGGGGAGTGAGAATGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0151 a0001c0003t0002g0151	1	189	0.0053	477	c.40 others(488): Show c.4078_*4079insGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGAGGAAT GAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGTTGAGAAGGGGAGTGAGAGAGGGTTGAGAAGGGGAGTGAGAGTGGG GTGAGAAGAGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGTGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGAG AAGGGGATTGAGAGAGAGGGTGAGAAGGGGAGTGAGAATGGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3708		chr4	TogoVar
TTLL8_chr22_50013575_50063298	50028754	C C	CCCCACAC others(470): Show CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACAC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAA GACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	206	0.0049	477	c.225 others(496): Show c.2251+1675_2251+1676insTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTG GGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTG ATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG G	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CCATACAC others(470): Show CCATACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCTACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	96	0.0104	477	c.35 others(496): Show c.35+21565_*35+21566insATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCTACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA C	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP14_chr18_153557_219629	219172	C C	CAAAATAA others(470): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAAATAAC CAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGC AGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTG AGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGAC AAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGAT GGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGAT TGTGGGCATGTGTTCCCTGAGCGGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	24	0.0417	477	c.78 others(488): Show c.7888_*7889insAAAATAACCAGTGAGGATGGCATATACTCTTAAT AATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCC CTGAGCGGTACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAA ATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAG CGGTACAAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATAC TCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGT ACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATA AAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAA ATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTG GTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		4544		chr18	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(470): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20905.hp1 HG02738.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0009 a0004c0004t0004 a0001c0001t0009 a0004c0004t0004	a0001c0001t0009g0243 a0004c0004t0004g0244 a0001c0001t0009g0243 a0004c0004t0004g0244	2	34	0.0588	477	c.53- others(490): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCTCCTCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(470): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCC CCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCTCCCCCCACCCCCCCTCCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0077 a0010c0012t0001g0077	1	33	0.0303	477	c.53- others(490): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCTCCCCCCACCCCCCCTCCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253211	C C	CCCTCCCC others(470): Show CCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCT CCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTC TCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTC TCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTTTCCCCCCTCCCTTCCCCCT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	239	0.0042	477	c.53- others(490): Show c.53-438_53-437insTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTC CTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCC CCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCC CCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(470): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19084.hp2 NA19064.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0207 a0001c0002t0002g0118 a0001c0001t0004g0207 a0001c0002t0002g0118	2	26	0.0769	477	c.483 others(492): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(470): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	25	0.0400	477	c.483 others(492): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(470): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTCTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTTTTTTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCTG TGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATGT GCGTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTGT GCTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTGT GTGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTGT TTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCTT CGTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01361.hp1 others(3): Show HG00639.hp2 HG01109.hp1 HG01361.hp1 HG01517.hp2 NA18939.hp2 NA21309.hp1	a0001 a0024 a0026 a0001 a0024 a0026	a0001c0004 a0024c0041 a0026c0062 a0001c0004 a0024c0041 a0026c0062	a0001c0004t0002 a0024c0041t0001 a0026c0062t0001 a0001c0004t0002 a0024c0041t0001 a0026c0062t0001	a0001c0004t0002g0256 a0001c0004t0002g0258 a0001c0004t0002g0259 others(3): Show a0001c0004t0002g0256 a0001c0004t0002g0258 a0001c0004t0002g0259 a0001c0004t0002g0260 a0024c0041t0001g0153 a0026c0062t0001g0304	6	142	0.0423	477	c.682 others(496): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTCTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTTTTTTGTGTGTGTTCTG TGTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTGT TCTGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTGT TCTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCTT CGTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTGT TCTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTG TGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCATG T	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(470): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCTG TGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATGT GCGTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTGT GCTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTGT GTGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTGT TTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCTT CGTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02572.hp1 HG02615.hp2 HG01081.hp2 HG02572.hp1 HG02615.hp2	a0001 a0010 a0001 a0010	a0001c0023 a0010c0056 a0001c0023 a0010c0056	a0001c0023t0001 a0010c0056t0001 a0001c0023t0001 a0010c0056t0001	a0001c0023t0001g0053 a0001c0023t0001g0055 a0010c0056t0001g0299 a0001c0023t0001g0053 a0001c0023t0001g0055 a0010c0056t0001g0299	3	139	0.0216	477	c.682 others(496): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTTTTGTGTGTGTGTTCTG TGTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTGT TCTGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTGT TCTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCTT CGTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTGT TCTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTG TGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCATG T	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370740	C C	CATATATA others(470): Show CATATATATCATATATATACCATATATATAATATATATCATATAAATCAT ATATATCATATACATCATATACATCATATACATCATATATGATATATACA TCATATATCACACATATGATATATACATCATATATCACACATATGATATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TATATCATATATCACACATATGATATATATCATATATCACACATATGATA TATATCATACATATCACATATATCATATATATCATACATATCACATATAT GATATATATCATACATATCACATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	235	0.0043	477	c.-37 others(488): Show c.-3732_-3731insATATATATCATATATATACCATATATATAATATA TATCATATAAATCATATATATCATATACATCATATACATCATATACATCA TATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATATATCATATATCACACATATGATATATATCATAT ATCACACATATGATATATATCATACATATCACATATATCATATATATCAT ACATATCACATATATGATATATATCATACATATCACATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3628		chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288813	C C	CCGTGTCT others(471): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	269	0.0037	478	c.47 others(489): Show c.4750_*4751insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGA CACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGG GACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3577		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290014	T T	TCCGTCCC others(471): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0166	1	268	0.0037	478	c.35 others(489): Show c.3549_*3550insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2376		chr1	TogoVar

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