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
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(215): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGAAGG GGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGAT GGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAG ACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGC AGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02040.hp1 others(16): Show HG01106.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02602.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007	a0001c0001t0012 a0001c0001t0022 a0001c0001t0057 others(7): Show a0001c0001t0012 a0001c0001t0022 a0001c0001t0057 a0001c0001t0058 a0001c0001t0138 a0002c0002t0013 a0003c0003t0005 a0003c0003t0017 a0003c0003t0018 a0007c0007t0005	a0001c0001t0012g0016 a0001c0001t0012g0034 a0001c0001t0022g0019 others(16): Show a0001c0001t0012g0016 a0001c0001t0012g0034 a0001c0001t0022g0019 a0001c0001t0022g0023 a0001c0001t0057g0017 a0001c0001t0058g0033 a0001c0001t0138g0239 a0002c0002t0013g0022 a0002c0002t0013g0101 a0003c0003t0005g0045 a0003c0003t0005g0074 a0003c0003t0005g0078 a0003c0003t0005g0081 a0003c0003t0017g0221 a0003c0003t0017g0223 a0003c0003t0018g0166 a0003c0003t0018g0218 a0003c0003t0018g0226 a0007c0007t0005g0024	19	256	0.0742	222	c.727 others(239): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(215): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGAT GGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAG ACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGC AGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18945.hp1 NA18960.hp2 HG03239.hp2 NA18945.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0136 a0001c0001t0001 a0001c0001t0004 a0001c0001t0136	a0001c0001t0001g0132 a0001c0001t0004g0123 a0001c0001t0136g0121 a0001c0001t0001g0132 a0001c0001t0004g0123 a0001c0001t0136g0121	3	256	0.0117	222	c.727 others(239): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCCCTTC CCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(215): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	222	c.27 others(233): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355870	T T	TATACACA others(215): Show TATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01515.hp1 HG00099.hp2 HG00280.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	442	0.0068	222	c.27 others(233): Show c.2770_*2771insATACACAAGTGTGTATATACGTATATACACAAGT GTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATAC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		710		chr11	TogoVar
CDC34_chr19_526760_547087	534411	C C	CCCCGAGT others(215): Show CCCCGAGTGCCCTCCTTGTCCAGGCCTCGCCCACGATCCAAGACCCCCGA GTGCCCTCCTTGTCCAGGCCTCGCCCACGATCCAAGACCCCCGAGTACCC TCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCTGAGTGCCCTCCCT GTCCAGACCTCGCCCACGATCCAAGACCCCCTGTATGCCCTCCCTGTCCA GACCTCGCCCACGATCCAAGACT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0100 a0001c0001t0013g0100	1	328	0.0031	222	c.178 others(239): Show c.178-1419_178-1418insGCCCTCCTTGTCCAGGCCTCGCCCACGA TCCAAGACCCCCGAGTGCCCTCCTTGTCCAGGCCTCGCCCACGATCCAAG ACCCCCGAGTACCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCC TGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCTGTAT GCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACTCCCGAGT	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP157_chr9_127701988_127721002	127720790	G G	GGCCAAGG others(215): Show GGCCAAGGAGGCCGAAGGAACCGCAGGCCCCCGGCCGACGCCTCCTGCAA GGACTTTCTCTCCCTCCTGCCTTCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCCTTCCTCCCTCCCCCTCTCCTCTCCCTCCCTCCCCTTCCTCC CTTCCTTCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCTTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	354	0.0028	222	c.68 others(233): Show c.6885_*6886insGCCAAGGAGGCCGAAGGAACCGCAGGCCCCCGGC CGACGCCTCCTGCAAGGACTTTCTCTCCCTCCTGCCTTCCCCCTTCCTCC CTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCTCTCCTCTCCCT CCCTCCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCCCCTTCCTCCCTCC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4789		chr9	TogoVar
CNDP2_chr18_74491363_74528454	74514519	T T	TATGTAAG others(215): Show TATGTAAGTTCTGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTG CAGGCTGTAGGGTTATGTGGTATGGATGTAAGTTCTGCAGGCTATAGGTT TATGTGGTATGGATGTAAGTTCTGCAGCCTGTGGGCTTACGTGGTACGTA TGTAAGTTCTGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTGCA GGCTGTAGGGTTATGTGGTATGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	424	0.0024	222	c.903 others(237): Show c.903+852_903+853insGCTGTAGGGTTATGTGGTATGGATGTAAGT TCTGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTGCAGCCTGTG GGCTTACGTGGTACGTATGTAAGTTCTGCAGGCTATAGGTTTATGTGGTA TGGATGTAAGTTCTGCAGGCTGTAGGGTTATGTGGTATGGATGTAAGTTC TGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTGCAG	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNOT1_chr16_58514951_58634826	58586400	A A	AGGGGGAG others(215): Show AGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGG AGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAA GGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGG GGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGA GGGGAAGGGGAGGGGAGGGGAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	308	0.0033	222	c.637 others(237): Show c.637+144_637+145insCTTCCCCTCCCCTCCCCTTCCCCTCCCCTC CCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCT CCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCC CCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133824	T T	TCTCCACC others(215): Show TCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	223	0.0045	222	c.-42 others(233): Show c.-4220_-4219insCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3937		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTGTG others(215): Show TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0029 a0029	a0029c0097 a0029c0097	a0029c0097t0001 a0029c0097t0001	a0029c0097t0001g0036 a0029c0097t0001g0036	1	292	0.0034	222	c.268 others(241): Show c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921481	T T	TATATATC others(215): Show TATATATCATATATATTCATATATTCATATATATTCATATATATCATATA TATTCATATATTCATATATATTCATATATATTCATATATTCATATATATT CATATATATTCATATATTCATATATATTCATATATATTCATATATTCATA TATATTCATATATATTCATATATTCATATATATTCATATATATTCATATA TTCATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0116 a0002c0004t0001g0117	2	182	0.0110	222	c.267 others(239): Show c.267-6422_267-6421insCATATATATTCATATATTCATATATATT CATATATATCATATATATTCATATATTCATATATATTCATATATATTCAT ATATTCATATATATTCATATATATTCATATATTCATATATATTCATATAT ATTCATATATTCATATATATTCATATATATTCATATATTCATATATATTC ATATATATTCATATATTCATATATATTCATATATATTCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A2_chr13_110302284_110518209	110479396	C C	CGGGGAGA others(215): Show CGGGGAGAAGGCTGGGACTGGAATGTGGGGTGCTCTCTAGGAAAGGGGGA CCACCCCAGCAGAGGCAGGCCAGCGGGGGAGAAGGCTGGGACTGGAATGT GGGGTGCTCTCTAGGAAAGGGGGACCACCCCAGCAGAGGCAGGCCAGCGG GGGAGAAGGCTGGGACTGGAATGTGGGGTGCTCTCTAGGAAAGGGGGACC ACCCCAGCAGAGGCAGGCCAGCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0012 a0001c0002t0008g0012	1	372	0.0027	222	c.258 others(239): Show c.2588-757_2588-756insGCCAGCGGGGGAGAAGGCTGGGACTGGA ATGTGGGGTGCTCTCTAGGAAAGGGGGACCACCCCAGCAGAGGCAGGCCA GCGGGGGAGAAGGCTGGGACTGGAATGTGGGGTGCTCTCTAGGAAAGGGG GACCACCCCAGCAGAGGCAGGCCAGCGGGGGAGAAGGCTGGGACTGGAAT GTGGGGTGCTCTCTAGGAAAGGGGGACCACCCCAGCAGAGGCAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGTTTA others(215): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGT GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGA GGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0025 a0002c0008t0005g0025	1	372	0.0027	222	c.49 others(233): Show c.4964_*4965insAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAG GTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGG TCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134701	G G	GAGGGTCA others(215): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGG GTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTT TAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0001 a0001c0013t0002g0001	1	372	0.0027	222	c.52 others(233): Show c.5210_*5211insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAG GTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGTTTA others(215): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGT GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGA GGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0026 a0002c0012t0001g0026	1	364	0.0028	222	c.19 others(233): Show c.1903_*1904insAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAG GTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGG TCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	G G	GAGGGTCA others(215): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGG GTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTT TAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18954.hp1 NA18947.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	2	364	0.0055	222	c.21 others(233): Show c.2149_*2150insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAG GTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(215): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATATATTTCTATATATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATTTCTATATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	370	0.0027	222	c.56 others(233): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATATATTTCTA TATATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATTTC TATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(215): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT ATTTCTATATATATATATATATATATATATTTCTATATATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATTTCTATATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	370	0.0027	222	c.56 others(233): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATATTTCTATATATATATATATATATATATATTTCTA TATATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATTTC TATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(215): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT TTCTATATATATATATATATATATATATATTTCTATATATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATTTCTATATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	370	0.0027	222	c.56 others(233): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATTTCTATATATATATATATATATATATATATTTCTA TATATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATTTC TATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(215): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATATATTTCTATATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0257 a0001c0001t0036g0257	1	370	0.0027	222	c.56 others(233): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATATATTTC TATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(215): Show CCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCACACTAACCCAGCCCCCCACACTGACCCGGCCCCCACACTA ACCCAGCCCCCACACTGACCCGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19000.hp2 NA18986.hp1 NA19000.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0091 a0009c0009t0001g0092 a0009c0009t0001g0091 a0009c0009t0001g0092	2	350	0.0057	222	c.489 others(239): Show c.489-1413_489-1412insACACTAACCCAGTCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACC CGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTG ACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTAC1_chr10_97860000_98035621	97900907	G G	GGTAGTGA others(215): Show GGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCG TAGCCCCTTTTCCTGGTAGTGATTGGAGCCTGTAGCCCCTTTTCCTGGTA GTGATTGGAGCCTGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGC CCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGA TTGGACCCTGTAGCCCCTTTTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	204	0.0049	222	c.113 others(239): Show c.1133+595_1133+596insGGAAAAGGGGCTACAGGGTCCAATCACT ACCAGGAAAAGGGGCTACGGGGTCCAATCACTACCAGGAAAAGGGGCTAC GGGGTCCAATCACTACCAGGAAAAGGGGCTACAGGCTCCAATCACTACCA GGAAAAGGGGCTACAGGCTCCAATCACTACCAGGAAAAGGGGCTACGGGG TCCAATCACTACCAGGAAAAGGGGCTACGGGGTCCAATCACTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CSMD1_chr8_2930361_4999914	3411987	T T	TATGCACC others(215): Show TATGCACCTATACATGCACGTAAATATGCACCTATATATGCACGTATATA TGCACGTATATATGCACACGTATATATGCACGTATATATGCACACGTATA TATGCACGTATATATGCACGTATATATGCACGTATATATGCACACGTATA TATGCACACGTATATATGCATACGTATATATGCACGTATATATGCATACG TATATATGCACGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	222	c.156 others(241): Show c.1562-2383_1562-2382insGTATATATATACGTGCATATATACGT ATGCATATATACGTGCATATATACGTATGCATATATACGTGTGCATATAT ACGTGTGCATATATACGTGCATATATACGTGCATATATACGTGCATATAT ACGTGTGCATATATACGTGCATATATACGTGTGCATATATACGTGCATAT ATACGTGCATATATAGGTGCATATTTACGTGCATGTATAGGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CXorf51B_chrX_146804771_146815411	146812258	C C	CACATATA others(215): Show CACATATATGTGTACATATGTGTATATACGTATATACACATATATATGTG TACATATATGTGTATATATGTATATACACACGTATATGTGTACATATATG TGTATATATGTATATACACACGTATATGTGTACATATATGTGTATATATG TATATACACACGTATATGTGTACATATATGTGTATATATGTATATACACA CATATATGTGTACATATATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	222	c.19 others(233): Show c.1950_*1951insACATATATGTGTACATATGTGTATATACGTATAT ACACATATATATGTGTACATATATGTGTATATATGTATATACACACGTAT ATGTGTACATATATGTGTATATATGTATATACACACGTATATGTGTACAT ATATGTGTATATATGTATATACACACGTATATGTGTACATATATGTGTAT ATATGTATATACACACATATATGTGTACATATATGTGT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1848		chrX	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(215): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATTTATATATAATATGTAATATTATATATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATTACA TATTATATATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0301 a0001c0001t0007g0301	1	394	0.0025	222	c.36 others(233): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATTTATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATTACATATTATATATATATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYLC1_chrX_83856146_83891698	83878466	T T	TATATATA others(215): Show TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATAAATATATAAATATATATA AATATATAAATATATATATATAAATATATAAATATATATAAATATATAAA TATATATATATAAATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	208	0.0048	222	c.192 others(241): Show c.1923+3842_1923+3843insAATATATATAAATATATATATAAATA TATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATAAATATATATAAATATATAAATATATATATATAAATATATAAATA TATATAAATATATAAATATATATATATAAATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(215): Show ATATATATGTGTATATATATATATATATATATATGTGTATATATATATAT ATATATATGTGTATATATATATATATATATGTGTATATATATATATATAT ATATATATGTGTGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0230 a0002c0002t0013g0230	1	334	0.0030	222	c.290 others(237): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TGTGTATATATATATATATATATATGTGTATATATATATATATATATGTG TATATATATATATATATATATATATGTGTGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(215): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTC CCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCC TCCCCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	292	0.0034	222	c.165 others(237): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGA GGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGG GGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(215): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	288	0.0035	222	c.-7- others(237): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX51_chr12_132131594_132149319	132149080	C C	CGCCCGCC others(215): Show CGCCCGCCCTCGCTCATACCACACCCCCTAATCCCCTCGGATGAGTGCCG CCGCCTCGCTCACCACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC CTCGCTCACACACACCCTAATCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCACACACA CCCCTAATCCCTCGGTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	222	c.-47 others(233): Show c.-4785_-4784insCGCACTCACCGAGGGATTAGGGGTGTGTGTGGAG CGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGC GGCGGCACTCACCGAGGGATTAGGGTGTGTGTGAGCGAGGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTGGTGAGCGAGGCGGCGGCACTCATC CGAGGGGATTAGGGGGTGTGGTATGAGCGAGGGCGGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4762		chr12	TogoVar
DIP2C_chr10_269201_694668	425377	G G	GGCATGAC others(215): Show GGCATGACCAGCAGTGACTAATATGACACGGATGATACAGCATGACCAGT GGTGACTAATGTGAAATGGATACAGCATGACCAGCGGTGACTAATATGAC ACAGATGATACAGCATGACCAGTGGTGACTAATATGACACGGATGATACA GCATGACCAGCGGTGACTAATATGAAATGGATGCAGCATGACCAGCGGTG ACTAATATGACACGGATGATACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	88	0.0114	222	c.395 others(239): Show c.395-2345_395-2344insTGTATCATCCGTGTCATATTAGTCACCG CTGGTCATGCTGCATCCATTTCATATTAGTCACCGCTGGTCATGCTGTAT CATCCGTGTCATATTAGTCACCACTGGTCATGCTGTATCATCTGTGTCAT ATTAGTCACCGCTGGTCATGCTGTATCCATTTCACATTAGTCACCACTGG TCATGCTGTATCATCCGTGTCATATTAGTCACTGCTGGTCATGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCACACAC others(215): Show CCACACACACCCCCCCCACACACACACATCCCCCCCACACACACACATCC CCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCCACACAC ACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCC CCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACACACAC ACATCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	88	0.0114	222	c.85+ others(239): Show c.85+80936_85+80937insATGTGTGTGTGTGGGGGGGATGTGTGTG TGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGA TGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTG TGGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATG TGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(215): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0017 a0010c0013t0001g0017	1	126	0.0079	222	c.199 others(241): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(215): Show TCACCACCTCCTTCACCATCACCAGCACCTCCACCATCACCACCACCTCC ACCATCACCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCAC CACCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03654.hp2 HG00323.hp2 HG03654.hp2	a0007 a0049 a0007 a0049	a0007c0009 a0049c0052 a0007c0009 a0049c0052	a0007c0009t0001 a0049c0052t0001 a0007c0009t0001 a0049c0052t0001	a0007c0009t0001g0255 a0049c0052t0001g0079 a0007c0009t0001g0255 a0049c0052t0001g0079	2	256	0.0078	222	c.323 others(239): Show c.3234+761_3234+762insTCCTTCACCATCACCAGCACCTCCACCA TCACCACCACCTCCACCATCACCACCACTTCCTTCACCACCACCACCATC TTCACCGTCACCACCACCTCCACCACCACCACCTCCTCCACCACCACCAC CACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400294	A A	ACCTTCTC others(215): Show ACCTTCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCATCAC CACCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCATCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0001 a0019c0031t0001	a0019c0031t0001g0220 a0019c0031t0001g0220	1	256	0.0039	222	c.323 others(241): Show c.3234+1037_3234+1038insTTCTCCACCATCACCACCACCTCCAC CATCACCACCTCCTCCATCACCACCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAA others(215): Show ATATATAATATGTATATATAATATATATATAATATGTATATATAATATAT ATATATAATATATATATAATATATATAATATATATATAATATATATATAA TATATATAATATATATATAATATATATTATATATATTATATATATAATAT ATATATAATATATATATTATATATATAATATATATATAATATATATATTT AAAAGTATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	298	0.0034	222	c.554 others(239): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATATAATATATATATAATATATATAAT ATATATATAATATATATATAATATATATAATATATATATAATATATATTA TATATATTATATATATAATATATATATAATATATATATTATATATATAAT ATATATATAATATATATATTTAAAAGTATATATATATATATAAT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
EHMT1_chr9_137614005_137841127	137716202	T T	TGGGGGAG others(215): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG03225.hp1 HG02723.hp1 HG03130.hp1 HG03225.hp1	a0002 a0008 a0002 a0008	a0002c0010 a0008c0027 a0002c0010 a0008c0027	a0002c0010t0001 a0008c0027t0001 a0002c0010t0001 a0008c0027t0001	a0002c0010t0001g0127 a0002c0010t0001g0168 a0008c0027t0001g0125 a0002c0010t0001g0127 a0002c0010t0001g0168 a0008c0027t0001g0125	3	170	0.0177	222	c.86- others(235): Show c.86-390_86-389insGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCCCCTAC others(215): Show CCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCA CGATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCTATCCACACC CCCTACCACCATCCTCACCACCATCCCCATCCACAGCCCCTACCACCACC ATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	250	0.0040	222	c.259 others(241): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGT GTGGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATCGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315320	C C	CCCCCTAC others(215): Show CCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCAT CCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	250	0.0040	222	c.259 others(241): Show c.259+22696_259+22697insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATG GTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315836	C C	CCCCCTAC others(215): Show CCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	250	0.0040	222	c.259 others(241): Show c.259+22180_259+22181insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CACCACCA others(215): Show CACCACCATCCTCACCACCATCCCCATACACACCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCACACACACCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG00642.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0003g0199 a0001c0001t0003g0202	2	250	0.0080	222	c.259 others(241): Show c.259+21954_259+21955insAGGGGGTGTGTGTGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAT GGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(215): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CACCAACACACACCACACCCACACCACACATAAACCACACCCACACCCAA CACACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01069.hp1 others(75): Show HG00280.hp2 HG00408.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18945.hp2 NA18951.hp1 NA18961.hp2 NA18970.hp2 NA18975.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19067.hp2 NA19074.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0003c0006 a0005c0011 a0007c0014	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0003t0001 a0001c0007t0009 a0001c0012t0010 a0003c0006t0001 a0005c0011t0001 a0007c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(75): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0014g0208 a0001c0001t0016g0159 a0001c0001t0017g0194 a0001c0001t0018g0207 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0007t0009g0007 a0001c0012t0010g0172 a0003c0006t0001g0221 a0005c0011t0001g0171 a0007c0014t0001g0011	78	244	0.3197	222	c.25 others(233): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGTG TTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTG TGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGT GTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(215): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCGAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CACCAACACACACCACACCCACACCACACATAAACCACACCCACACCCAA CACACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	244	0.0041	222	c.25 others(233): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGTG TTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTG TGTGGTGTGTGTTCGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGT GTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(215): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATG ATATATAACATATGTTATATATCATATATGTTATATATCATATATGTTAT ATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19082.hp1 NA18945.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	338	0.0059	222	c.221 others(241): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATATGATATATAACATATGTTATATATCAT ATATAACATATGTTATATATCATATATAACATATGTTATATATCATATAT ATGTTATATATAATATATAACATATGCTATATATCATATATATCATATAT AACATATGTTATATATGATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EML1_chr14_99788413_99947060	99928098	G G	GTGATGGT others(215): Show GTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0066 a0002c0001t0002g0066	1	288	0.0035	222	c.190 others(241): Show c.1909+7223_1909+7224insATGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69367874	T T	TATATATA others(215): Show TATATATACACACATATATATAAATATATATATACACATATATATAAATA TATATATACACATATATATAAAAATATATATATACATATATAAATATATA TATACACATATATATAAATATATATATACACATATATAAATATATATACA CACATATATAAATATATATATACACATATATATATAAATATATACACACA TATATATAAATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01346.hp2 others(2): Show HG00621.hp2 HG00673.hp1 HG01346.hp2 HG02523.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0091 a0001c0001t0002g0020	5	342	0.0146	222	c.472 others(239): Show c.472-3618_472-3617insCACACATATATATAAATATATATATACA CATATATATAAATATATATATACACATATATATAAAAATATATATATACA TATATAAATATATATATACACATATATATAAATATATATATACACATATA TAAATATATATACACACATATATAAATATATATATACACATATATATATA AATATATACACACATATATATAAATATATATATACACATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ESYT2_chr7_158725997_158834509	158729701	G G	GGGGGGGA others(215): Show GGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGAGAGGGGCAAGTGTGGAG GTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGT GTGGAGGTGCTGGGGAGAGGGGCAAGTGTGGAGGTGCTGGGGGGGAGGAG CAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGG GAGGAGCAAGTGTGGAGGTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0346 a0003c0003t0004g0346	1	370	0.0027	222	c.45 others(233): Show c.4505_*4506insCAGCACCTCCACACTTGCTCCTCCCCCCCAGCAC CTCCACACTTGCTCCTCCCCCCCAGCACCTCCACACTTGCTCCTCCCCCC CAGCACCTCCACACTTGCCCCTCTCCCCAGCACCTCCACACTTGCTCCTC CCCCCCAGCACCTCCACACTTGCTCCTCCCCCCCAGCACCTCCACACTTG CCCCTCTCCCCAGCACCTCCACACTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1295		chr7	TogoVar
ETFB_chr19_51340169_51371388	51353659	C C	CTTCCTCA others(215): Show CTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCC AGGCATCCAGGCCCCCATCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCC CCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCT TCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCTTTCCTCAGACCCAG GAGTCCGGGCCCCCATCCCCTCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	436	0.0023	222	c.217 others(237): Show c.217-370_217-369insAGAGGGGATGGGGGCCCGGACTCCTGGGTC TGAGGAAAGAGGGGATGGGGGCCCGGACTCCTGGGTCTGAGGAAGGAGGG GATGGGGGCCTGGACTCCTGGGTCTGAGGAAGGAGGGGCTGGGGGCCTGG ACTCTTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGATGCCTGGGTCTG AGGGAGGATGGGCTGATAGCCTGGATTCCTGGGTCTGAGGAA	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51353898	G G	GTCCGGGC others(215): Show GTCCGGGCCCCCATGCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCA TCCCCTCTTTCCTCAGACCCAGGAGTCCGGGCCCCCATGCCCTCCTTCCT CAGACCCAGGAGTCCGGGCCCCCATCCCCTCTTTCCTCAGACCCAGGAGT CCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGC CCATCCTCCCTCAGACCCAGGCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0277	1	436	0.0023	222	c.216 others(237): Show c.216+251_216+252insTGCCTGGGTCTGAGGGAGGATGGGCTGATA GCCTGGATTCCTGGGTCTGAGGAAGGAGGGGATGGGGGCCCGGACTCCTG GGTCTGAGGAAAGAGGGGATGGGGGCCCGGACTCCTGGGTCTGAGGAAGG AGGGCATGGGGGCCCGGACTCCTGGGTCTGAGGAAAGAGGGGATGGGGGC CCGGACTCCTGGGTCTGAGGAAGGAGGGCATGGGGGCCCGGA	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5			chr19	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(215): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0089 a0003c0003t0011g0089	1	292	0.0034	222	c.571 others(239): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar

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