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
F10_chr13_113117799_113154529	113151762	G G	GGAGCGAA others(183): Show GGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGAACCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	379	0.0026	190	c.22 others(201): Show c.2245_*2246insGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAG TGAGGGAGAGAGAACAGAGGTGAGAACCTGAGGACCGAGAGCAGCAGGAG GTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGG GAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCAC GGTGGC	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2234		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(183): Show GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGG GGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	334	0.0030	190	c.46 others(201): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAG GCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAG GGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGC GCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGC GGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
FAM120B_chr6_170301758_170412067	170394417	G G	GTGCCAGC others(183): Show GTGCCAGCACAAGGCCACACCTCCGTGGACACCGCAGCATGTCAGCACAA GGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCC GTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCACA GCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0082 a0001c0001t0010g0082	1	194	0.0052	190	c.260 others(209): Show c.2600-1053_2600-1052insACCTCCGTGGACACCGCAGCATGTCA GCACAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCAC GCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGAC ACCACAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATGC CAGCACAAGGCCAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394417	G G	GTGCCAGC others(183): Show GTGCCAGCACAAGGCCACACCTCCGTGGACACCGCAGCATGTCAGCACAA GGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCC GTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCA GCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp2 HG02055.hp1 HG03225.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0012 a0005c0007t0012	a0005c0007t0012g0005 a0005c0007t0012g0005	2	195	0.0103	190	c.260 others(209): Show c.2600-1053_2600-1052insACCTCCGTGGACACCGCAGCATGTCA GCACAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCAC GCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGAC ACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATGC CAGCACAAGGCCAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394417	G G	GTGCCAGC others(183): Show GTGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAA GGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCC GTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCACA GCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0090 a0001c0002t0029g0090	1	194	0.0052	190	c.260 others(207): Show c.2600-924_2600-923insACAGCATGCCAGCACAAGGCCACGCCTC CGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGC AGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCA CAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCC TCCGTGGACACC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394434	C C	CACCTCCG others(183): Show CACCTCCGTGGACACCGCAGCATGTCAGCACAAGGCCACGCCTCCGTGGA CACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATG CCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGC CACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(2): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0007g0001 a0001c0002t0007g0183 a0001c0002t0007g0184	5	288	0.0174	190	c.260 others(209): Show c.2600-1053_2600-1052insACCTCCGTGGACACCGCAGCATGTCA GCACAAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCAC GCCTCCGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGAC ACCGCAGCATGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCATGC CAGCACAAGGCCAT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10			chr6	TogoVar
FIGN_chr2_163597611_163741008	163660791	G G	GTATACAC others(183): Show GTATACACATATACATATATATGTATATACATATACATATATATGTATAT ACATATACATATATATGTATATACATATACATATATATGTATATACATAT ATATGTATACATATACATATATATGTATATACATATATATGTATACATAT ACATATACATATATATGTATATACATATACATATATATACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp1 HG02965.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0102 a0001c0002t0003g0100 a0001c0001t0003g0102 a0001c0002t0003g0100	2	157	0.0127	190	c.26- others(207): Show c.26-48986_26-48985insTGTATATATATGTATATGTATATACATA TATATGTATATGTATATGTATACATATATATGTATATACATATATATGTA TATGTATACATATATATGTATATACATATATATGTATATGTATATACATA TATATGTATATGTATATACATATATATGTATATGTATATACATATATATG TATATGTGTATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FIGN_chr2_163597611_163741008	163660799	A A	ATATACAT others(183): Show ATATACATATATATGTATATACATATACATATATATGTATATACATATAC ATATATATGTATATACATATACATATATATGTATATACATATATATGTAT ACATATACATATATATGTATATACATATATATGTATACATATACATATAC ATATATATGTATATACATATACATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01496.hp2 HG02559.hp1 others(2): Show HG01175.hp1 HG01496.hp2 HG02559.hp1 HG02970.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0023 a0001c0001t0031 others(2): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0031 a0001c0001t0059 a0001c0002t0028	a0001c0001t0003g0097 a0001c0001t0023g0157 a0001c0001t0031g0091 others(2): Show a0001c0001t0003g0097 a0001c0001t0023g0157 a0001c0001t0031g0091 a0001c0001t0059g0093 a0001c0002t0028g0188	5	250	0.0200	190	c.26- others(207): Show c.26-48994_26-48993insCATATATATGTATATATATGTATATGTA TATACATATATATGTATATGTATATGTATACATATATATGTATATACATA TATATGTATATGTATACATATATATGTATATACATATATATGTATATGTA TATACATATATATGTATATGTATATACATATATATGTATATGTATATACA TATATATGTATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FIGN_chr2_163597611_163741008	163660799	A A	ATATACAT others(183): Show ATATACATATATATGTATATACATATACATATATATGTATATACATATAC ATATATATGTATATACATATACATATATATGTATATACATATATATGTAT ATACATATACATATATATGTATATACATATATATGTATACATATACATAT ACATATATATGTATATACATATACATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0130 a0001c0001t0016g0130	1	246	0.0041	190	c.26- others(207): Show c.26-48994_26-48993insCATATATATGTATATATGTATATGTATA TACATATATATGTATATGTATATGTATACATATATATGTATATACATATA TATGTATATGTATATACATATATATGTATATACATATATATGTATATGTA TATACATATATATGTATATGTATATACATATATATGTATATGTATATACA TATATATGTATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FLT4_chr5_180596506_180654600	180615192	C C	CCTGCCGG others(183): Show CCTGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGC TGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTG GGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC ACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	379	0.0026	190	c.322 others(209): Show c.3220-1014_3220-1013insCCCAGTGCTCCGAAAGGAAGTGGAGA AGGGAGGTGACCGGTGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGA GATGGGAGTTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGG GAGGTGACCGGCAG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GTGGGGAA others(183): Show GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	215	0.0047	190	c.157 others(205): Show c.1576+56_1576+57insTGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXN3_chr14_89151177_89422233	89204983	T T	TAAGTTTT others(183): Show TAAGTTTTCCACCTAACAATATTGAACTGCAACACCGCACTACTGGGAGA GAAACAAGAATGTACCCATGCTGCCCTGGACCTGCAGGAGTTACTGTTCC ATCTCGAAGGGTGGGGAAGATCCCTGAACTCAGGCCCAGTAGGCAAGGAA GTTGAGAACAATTAGTTTGGGTTTAAAAATTAGTCTAAACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02109.hp2 others(8): Show HG01109.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02809.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 others(8): Show a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048 a0001c0001t0058 a0001c0001t0072 a0001c0001t0079 a0001c0002t0022	a0001c0001t0010g0209 a0001c0001t0017g0005 a0001c0001t0022g0168 others(8): Show a0001c0001t0010g0209 a0001c0001t0017g0005 a0001c0001t0022g0168 a0001c0001t0039g0186 a0001c0001t0040g0226 a0001c0001t0042g0182 a0001c0001t0048g0038 a0001c0001t0058g0163 a0001c0001t0072g0169 a0001c0001t0079g0170 a0001c0002t0022g0112	11	228	0.0482	190	c.746 others(209): Show c.746-24178_746-24177insGGTTTAGACTAATTTTTAAACCCAAA CTAATTGTTCTCAACTTCCTTGCCTACTGGGCCTGAGTTCAGGGATCTTC CCCACCCTTCGAGATGGAACAGTAACTCCTGCAGGTCCAGGGCAGCATGG GTACATTCTTGTTTCTCTCCCAGTAGTGCGGTGTTGCAGTTCAATATTGT TAGGTGGAAAACTT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	4/5			chr14	TogoVar
FRMD1_chr6_168048095_168084212	168078608	T T	TCACAGCC others(183): Show TCACAGCCCTGCTCACCCCCACGGCTCTGCTCACCCTCACAGCCCTGCTC ACCCTCACGGCCCTGCTCACCCCCACAGCCCTGCTCACCCCCACGGCCCT GCTCACCCCCACAGCCCTGCTCACCCCCACGGCCACCCAGGGCCCTGCTC ACCCCCATGGCTCTGCTCACCCCCACAGCCCTGCTCACCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0026 a0003c0022t0026	a0003c0022t0026g0055 a0003c0022t0026g0055	1	391	0.0026	190	c.213 others(205): Show c.213+273_213+274insGGGGTGAGCAGGGCTGTGGGGGTGAGCAGA GCCATGGGGGTGAGCAGGGCCCTGGGTGGCCGTGGGGGTGAGCAGGGCTG TGGGGGTGAGCAGGGCCGTGGGGGTGAGCAGGGCTGTGGGGGTGAGCAGG GCCGTGAGGGTGAGCAGGGCTGTGAGGGTGAGCAGAGCCGTGGGGGTGAG CAGGGCTGTG	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FUT10_chr8_33365824_33478146	33462169	G G	GAGGGGAG others(183): Show GAGGGGAGAGGAGGGGACAGTGGGGAGGGGAGTGGAGGGGAGGGGGGAAG TGAGGGAAGGGGGGGGAGAGAGGAGGGGAGGGAGTGGAGGGCAGGGGAGG CAGGGAGTGGAGGGCAGGGGAGGCAGAGAGAGGAGGGAAGGGAGTGGAGG GCAGGGGAGGGGGAGAGAGGAGGGGAGGGGAGGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA19001.hp2 NA18997.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0267 a0001c0001t0001g0191 a0001c0001t0001g0267	2	131	0.0153	190	c.-27 others(207): Show c.-273-445_-273-444insTCCCTTCCCCTCCCCTCCCCTCCTCTCT CCCCCTCCCCTGCCCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTGC CCTCCACTCCCTGCCTCCCCTGCCCTCCACTCCCTCCCCTCCTCTCTCCC CCCCCTTCCCTCACTTCCCCCCTCCCCTCCACTCCCCTCCCCACTGTCCC CTCCTCTCCCCT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
GAK_chr4_844277_937316	926958	T T	TCCCCGCT others(183): Show TCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCT GCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTG CCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTC CCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	380	0.0026	190	c.145 others(207): Show c.145+5084_145+5085insTGGGGGGGGTTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGG CAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCGGGG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805236	C C	CGCAGGCC others(183): Show CGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAACCCAGAGACCTCTGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGAGACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	222	0.0045	190	c.10 others(201): Show c.1070_*1071insGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAACCCAGAGACCTCTGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGAG ACCTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		950		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCCGCAGG others(183): Show TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	245	0.0041	190	c.17 others(201): Show c.1797_*1798insCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807262	C C	CCCCCTCA others(183): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	308	0.0032	190	c.30 others(201): Show c.3096_*3097insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2976		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807650	T T	TCCCTCCC others(183): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	297	0.0034	190	c.34 others(201): Show c.3484_*3485insCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3364		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(183): Show TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CTCCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	270	0.0037	190	c.37 others(201): Show c.3765_*3766insCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGC AGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3645		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807956	G G	GACCTCTG others(183): Show GACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0211 a0003c0003t0001g0211	1	296	0.0034	190	c.37 others(201): Show c.3790_*3791insACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3670		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132244385	C C	CGGGGGGG others(183): Show CGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGA CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGATGGGGGCG TGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTG GTGATGGGGGCTGGACGGGGGGCGTGGTGATGGGGCTGGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02735.hp2 HG03017.hp1 others(2): Show HG00733.hp1 HG02735.hp2 HG03017.hp1 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0021 a0001c0041	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0021t0004 a0001c0041t0015	a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0006t0001g0098 others(2): Show a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0006t0001g0098 a0001c0021t0004g0155 a0001c0041t0015g0178	5	178	0.0281	190	c.107 others(209): Show c.1077+3524_1077+3525insATCCAGCCCCATCACCACGCCCCCCG TCCAGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCAT CCAGCCCCATCACCACGCCCCCATCCATCACCACGCCCCCGTCCAGCCCC ATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCAT CACCACGCCCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAS6_chr13_113815549_113869076	113836812	A A	AGGAGGAG others(183): Show AGGAGGAGGAGGAAGATGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAG GGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGAAGAAA GAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGATGGGGAGGAGGAGGG GAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	141	0.0071	190	c.590 others(207): Show c.590-1178_590-1177insCCATCTTCCTCCTCCTCTTTCTTCTCCT CCTCCCCCCACTCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCAT CTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTC CCCCCCACTCCCCCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCATCT TCCTCCTCCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(183): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGAGTGGGGGGGAG GAGGAGAAGAAAGAGGAGGAGGAAGATGGGAGGAGGAGGAGGAAGATGGG GAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGA TGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	4	0.2500	190	c.590 others(207): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCATCTTCCTCCTCCT CTTTCTTCTCCTCCTCCCCCCCACTCCCCTCCTCCTCCCCCCCACTCCCC CTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GK_chrX_30648423_30736462	30664031	T T	TTATAGAT others(183): Show TTATAGATATATATTTTATATATATCTATATATATTTATAGATATATATT TTATATATATCTATATATATATCTATATATATTTTATAGATATATATTTT ATATATATCTATATATATTTTATAGATATATATTTTATATATATCTATAT ATATTTTATAGATATATATTTTATATATATCTATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	284	0.0035	190	c.79- others(205): Show c.79-1444_79-1443insATAGATATATATTTTATATATATCTATATA TATATCTATATATATTTTATAGATATATATTTTATATATATCTATATATA TTTTATAGATATATATTTTATATATATCTATATATATTTTATAGATATAT ATTTTATATATATCTATATATATATATAGATATATATTTTATATATATCT ATATATATTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308559	C C	CCACCACC others(183): Show CCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACC ACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCATCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCAAATACCACC ACCACCACCATGTCCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	420	0.0024	190	c.962 others(207): Show c.962-1056_962-1055insTCACCATCACCATCATCACCATCACCTC CACCACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCA TCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACC AAATACCACCACCACCACCATGTCCACCACCACCACCACCACCATCACCA TCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPR157_chr1_9095305_9134102	9116199	A A	ATATATAT others(183): Show ATATATATTTATATTATATATATTATATATAATATAATTATATATATTTA TATTATATATATTATATATAATATAATATATATAATTATATTATATATAT TATATTATATATAATTATATATAATTATATTATATATTATATGTAATATA AATATATATAATTATATTATATATATTATATGTAATATAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	399	0.0025	190	c.384 others(207): Show c.384-4711_384-4710insATTATATTACATATAATATATATAATAT AATTATATATATTTATATTACATATAATATATAATATAATTATATATAAT TATATATAATATAATATATATAATATAATTATATATATTATATTATATAT AATATATATAATATAAATATATATAATTATATTATATATAATATATATAA TATAAATATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR35_chr2_240620480_240638159	240623293	G G	GAAACAGG others(183): Show GAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGTGCAAACAGGTCGT GAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAAAC AGGTCGTGAGGGTGCAAACAGGTCATGAGGGCGCAAACAGGTCGTGAGGG TGCAAACAGGTCGTGAGGGCGCAAACAGGTCATGAGGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	319	0.0031	190	c.-22 others(201): Show c.-2280_-2279insAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGG GTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGT CGTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGCGCA AACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTCATGA GGGCGC	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2186		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623310	C C	TGCAAACA others(183): Show TGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAA ACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAG GGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0049 a0002c0002t0004g0049	1	257	0.0039	190	c.-22 others(201): Show c.-2264_-2263insTGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTG AGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACA GGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGC GCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCG TGAGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2170		chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998514	A A	ATATATAC others(183): Show ATATATACGTGTATATACGTATATATATACATATATATACGTGTATATAC GTATATATATACGTATATATATACATATATACGTATATATATACGTATAT ATATACATATATACGTATATATATACGTATATATATACATATATACGTAT ATATATACGTATATATATACGTATATATATACATATATACG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	353	0.0028	190	c.167 others(207): Show c.1678-445_1678-444insCGTGTATATACGTATATATATACATATA TATACGTGTATATACGTATATATATACGTATATATATACATATATACGTA TATATATACGTATATATATACATATATACGTATATATATACGTATATATA TACATATATACGTATATATATACGTATATATATACGTATATATATACATA TATACGTATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998573	T T	TACATATA others(183): Show TACATATATGTGTACACATATATATACACATATATGTACACATATATATA CACATATATGTACACATATATATACACATATATGTACACATATATATACA CACATATATGTACACATATATATACACACATATATGTACACATATATATA CACACATATATGTACACATATATATACACATATATGTACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0317 a0001c0001t0007g0317	1	387	0.0026	190	c.167 others(207): Show c.1678-391_1678-390insCATATATGTGTACACATATATATACACA TATATGTACACATATATATACACATATATGTACACATATATATACACATA TATGTACACATATATATACACACATATATGTACACATATATATACACACA TATATGTACACATATATATACACACATATATGTACACATATATATACACA TATATGTACACA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(183): Show CCTCCCCCCTCCTCCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0105 a0001c0001t0044g0105	1	277	0.0036	190	c.427 others(207): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCCCCTCCCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HAUS2_chr15_42543838_42574994	42548115	T T	TGTTGTTC others(183): Show TGTTGTTCAGGGAGAGGCTCTTCAGCAGAGTGAACTTTCCTATCAGCAAA GGCGGTAGGCTTTCGATCTTGTTGTTGGACAAGTCGATGGTCCTGAGATT GCTCGTCAGCTTCTGCAAGTCTGCGGGGAACTGGAGAAAGGAGTTCACAG CGTGGGGAATCCCGCACCGACTAAGTTCGCCGCCCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	348	0.0029	190	c.-75 others(199): Show c.-758_-757insGTTGTTCAGGGAGAGGCTCTTCAGCAGAGTGAACTT TCCTATCAGCAAAGGCGGTAGGCTTTCGATCTTGTTGTTGGACAAGTCGA TGGTCCTGAGATTGCTCGTCAGCTTCTGCAAGTCTGCGGGGAACTGGAGA AAGGAGTTCACAGCGTGGGGAATCCCGCACCGACTAAGTTCGCCGCCCCC GCCG	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		722		chr15	TogoVar
HEATR4_chr14_73473484_73563947	73546924	T T	TAAAAATA others(183): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp2 HG01928.hp1 others(11): Show HG01070.hp2 HG01261.hp2 HG01928.hp1 HG01978.hp2 HG02129.hp2 HG02683.hp2 HG03688.hp1 NA18941.hp1 NA18961.hp2 NA18962.hp2 NA18972.hp1 NA18998.hp2 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0067 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0002t0001g0068 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0003t0001g0116 a0001c0003t0003g0176	14	328	0.0427	190	c.-15 others(211): Show c.-152+11826_-152+11827insTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAAT CTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCT AAATTTTTGTATTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17			chr14	TogoVar
HIGD1C_chr12_50947544_50975607	50948895	G G	GGGGAGGG others(183): Show GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	322	0.0031	190	c.-38 others(201): Show c.-3884_-3883insGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3648		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340844	T T	TTCTTTTT others(183): Show TTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGCC TGGAGTGCAATGGCGTGATCTCGTCTCACCGCAGCCTCTGCCTCCCGGGT TCAAGCGATTCTCCTGCCGCAGCCACCAGAGTAGCTGGGATTACAGGCAC CAACCACCACGCCCGGCCAATTTTTTTCTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00735.hp1 others(22): Show HG00323.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp1 HG03098.hp2 HG03491.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0003 a0001c0001t0001 a0004c0006t0003	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0038 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0203 a0001c0001t0001g0206 a0004c0006t0003g0207	25	302	0.0828	190	c.-10 others(207): Show c.-10+1950_-10+1951insGAAAAAAAAAAAAGAAAAAAATTGGCCG GGCGTGGTGGTTGGTGCCTGTAATCCCAGCTACTCTGGTGGCTGCGGCAG GAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCGGTGAGACGAGATCACG CCATTGCACTCCAGGCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAA AAAAAAAAAAGA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22819082	C C	CCTTCCTT others(183): Show CCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TCCCTCCCTCCCTCCCTTCCTTCTTCCTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20300.hp1 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0306 a0001c0001t0001g0307	2	189	0.0106	190	c.485 others(207): Show c.485+3988_485+3989insTTCCTTCCTTCCTTCATTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTT CATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCTTCCTTC CTTCCTTCCCTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR2C_chrX_114579086_114915061	114807462	T T	TATATATA others(183): Show TATATATACCATATATATACGCCATATATATACCATATATATACGCCATA TATATACCATATATATACGCCATATATATACCATATATATACGCCATATA TATACCATATATATACGCCATATATATACCATATATATACGCCATATATA TACCATATATATACGCCATATATATACCATATATATACGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02922.hp2 others(1): Show HG02486.hp1 HG02559.hp1 HG02922.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0144 a0001c0001t0001g0163 a0002c0002t0002g0009 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0163 a0002c0002t0002g0009 a0002c0002t0002g0037	4	166	0.0241	190	c.350 others(209): Show c.350-40534_350-40533insCCATATATATACGCCATATATATACC ATATATATACGCCATATATATACCATATATATACGCCATATATATACCAT ATATATACGCCATATATATACCATATATATACGCCATATATATACCATAT ATATACGCCATATATATACCATATATATACGCCATATATATACCATATAT ATACGCCATATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TGGAATAT others(183): Show TGGAATATATATATATGGAATATATACATGGAATATATATATATGGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAACATATACATGGAATATATACATGGAACATATACAT GGAATATATATATATGGAACATATACGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	209	0.0048	190	c.-24 others(201): Show c.-2470_-2469insGGAATATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATATATATGGAACATATACGGAATATAT ATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2383		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323080	T T	TATATATA others(183): Show TATATATACATGGAATATATATATGGAATATATATACATGGAATATATAT ATGGAATATATATACATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	309	0.0032	190	c.-19 others(201): Show c.-1976_-1975insATATATACATGGAATATATATATGGAATATATAT ACATGGAATATATATATGGAATATATATACATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1889		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441953	T T	TCCTTCTC others(183): Show TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01261.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0130 a0001c0001t0001g0067 a0001c0001t0001g0130	2	352	0.0057	190	c.221 others(209): Show c.221-22264_221-22263insGAGAAGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
INO80_chr15_40973880_41121280	41031555	A A	AAGGGAGG others(183): Show AAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGG GAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGAAAGGGAGGAAGGGA GGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	181	0.0055	190	c.290 others(209): Show c.2908-3820_2908-3819insCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTC CTCCCTTCCTCCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132775115	G G	GGGCAGGG others(183): Show GGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGA GGAGGGACAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0172 a0001c0011t0001g0172	1	181	0.0055	190	c.978 others(207): Show c.978-2544_978-2543insAGATGGGCAGAGAGGAGGGGCAGGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGG GGGCAGGGAGGAGGGACAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGG GGGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACA GGCAGGGAGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITGA10_chr1_145886208_145915050	145909622	A A	ATGTTATA others(183): Show ATGTTATATATTATATGTATATTATATATAATATATAATTGTTATATATT ATATGTATATTATATATAATATATAATTGTTATATATTATATGTATATTA TATATAATATATAATTGTTATATATTATATGTATATTATATATAATATAT AATTGTTATATATTATATGTATATTATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0015 a0006c0007t0001g0015	1	359	0.0028	190	c.52+ others(203): Show c.52+340_52+341insATTATATATTATATATAATATACATATAATAT ATAACAATTATATATTATATATAATATACATATAATATATAACAATTATA TATTATATATAATATACATATAATATATAACAATTATATATTATATATAA TATACATATAATATATAACAATTATATATTATATATAATATACATATAAT ATATAACA	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	1/29			chr1	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(183): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATGATATACCATATGATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0055 a0001c0001t0072g0055	1	257	0.0039	190	c.52+ others(207): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATCATATGGTATATCATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATCATATACCATAT GATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(183): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATGA TATACCATATCATATGGTATATGATATACCATATCATATGGTATATGATA TACCATATCATATGGTATATGATATACCATATCATATGGTATATGATATA CCATATCATATGGTATATCATATACCATATCATATGGTATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0018 a0001c0002t0019g0018	1	257	0.0039	190	c.52+ others(207): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATCATATACCATATGATATGGTATATCATATACC ATATGATATGGTATATCATATACCATATGATATGGTATATCATATACCAT ATGATATGGTATATCATATACCATATGATATGGTATATCATATACCATAT GATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNQ2_chr20_63395208_63477655	63445992	A A	ACCCTGTC others(183): Show ACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAG CTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCT GTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGG GGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0233 a0001c0007t0005g0233	1	31	0.0323	190	c.388 others(205): Show c.388-629_388-628insCCTCCCAGCTCAGACAGGGTCCCCCAGCTC AGACAGGGTCCCCCAGCTCAGACAGGGCCTCCCAGCTCAGACAGGGTCCC CCAGCTCAGACAGGGCCTCCCAGCTCAGACAGGGTCCCCCAGCTCAGACA GGGTCCCCCAGCTCAGACAGGGTCCCCCAGCTCAGACAGGGCCTCCCAGC TCAGACAGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228743	T T	TACCACCA others(183): Show TACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCAACCACCAAAC ACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAA GATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCAC CCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0298 a0001c0001t0032g0298	1	288	0.0035	190	c.64+ others(207): Show c.64+11896_64+11897insGTGGGGGTGGAGAGGGATCTTTCGGGTG AGTGGTGGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGAT CTCTCAGGTGAGTGTTTGGTGGTTGGGGGGGATGGGGAGGGATCTTTCGG GTGAGTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240780852	A A	ACACACAC others(183): Show ACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACAC AGCTCCACACACACACACACACACAGCGCCACACACACACAGCTCCACAC ACACACACAGCTCCACACACACACAGCTCCACACACACACACACAGCTCC ACACACACACAGCTCCACACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	328	0.0030	190	c.882 others(207): Show c.882+1737_882+1738insGAGCTGTGTGTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG GAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGCGCTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG GAGCTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(183): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0105 a0001c0001t0021g0105	1	60	0.0167	190	c.317 others(207): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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