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
DLGAP2_chr8_732628_1713476	1450455	T T	TGAGGCTG others(222): Show TGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGGTGGCTCG GGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGC TGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCT GTGAGGGTGAAGATGAGGTGGGCGGCCTCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 HG02895.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0026 a0001c0003t0001g0027	2	40	0.0500	229	c.107 others(248): Show c.107-50910_107-50909insAGGCTGAGCTGTGAGGGTGAAGATGA GGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGG CGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCT CGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMRT1_chr9_836697_974090	902210	C C	CTAGTGTC others(222): Show CTAGTGTCCCTTTTCACAGCCAGCTGGTAATGGCCACTCTCTACTGGTAG GCGCACATTGACTGGCTTTTTCTTCTGGAGAGAAAAATTGACAAGGTTTG CAAGCAGGCATAAAAGGAATTCATAAAGACATATTCAGTTGGAAACATTT AAAGTAATTTTTTTCCTCAGGAAAGGAGATTGAAAATAGATATTTGCTGT GGGCTCTTAGGCTAACAACCGTAATTTGTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01928.hp2 HG02056.hp2 others(7): Show HG00735.hp1 HG01928.hp2 HG02056.hp2 HG02074.hp1 HG02895.hp1 HG02897.hp1 HG03834.hp2 HG03927.hp2 NA18952.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0004g0181 others(7): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0004g0181 a0001c0001t0004g0235 a0001c0001t0004g0272 a0002c0002t0003g0013 a0002c0002t0003g0033 a0002c0002t0003g0234 a0002c0002t0005g0034 a0002c0002t0011g0223	10	306	0.0327	229	c.822 others(246): Show c.822+8016_822+8017insAGTGTCCCTTTTCACAGCCAGCTGGTAA TGGCCACTCTCTACTGGTAGGCGCACATTGACTGGCTTTTTCTTCTGGAG AGAAAAATTGACAAGGTTTGCAAGCAGGCATAAAAGGAATTCATAAAGAC ATATTCAGTTGGAAACATTTAAAGTAATTTTTTTCCTCAGGAAAGGAGAT TGAAAATAGATATTTGCTGTGGGCTCTTAGGCTAACAACCGTAATTTGTT T	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC13_chr3_132412502_132544032	132470622	C C	CCCCCCCA others(222): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01175.hp2 HG00738.hp2 HG01106.hp1 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0256 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0256	3	318	0.0094	229	c.220 others(248): Show c.2209-2518_2209-2517insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACC CCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK1_chr10_126900428_127457516	126948014	G G	GTGGTGGT others(222): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	136	0.0074	229	c.47- others(246): Show c.47-22624_47-22623insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT G	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948082	A A	ATGGTGGT others(222): Show ATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0034 a0001c0030t0001g0034	1	136	0.0074	229	c.47- others(246): Show c.47-22613_47-22612insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTG TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG T	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948243	G G	GTGATGGT others(222): Show GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0002 a0002c0045t0002	a0002c0045t0002g0029 a0002c0045t0002g0029	1	136	0.0074	229	c.47- others(246): Show c.47-22457_47-22456insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT G	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145191	A A	ATAATATA others(222): Show ATAATATATATATTTAATATATATAATATGTATATATAATATATATATAA TATGTATATATAATATATATATAATATATATAATATATATATAATATATA TATAATATATATAATATATATATATTATATATATTATATATATATTATAT ATATATTATATATATATAATATATATAATATATATATAATATATATATAA TATATATATATAATATATATATTTAAAAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	298	0.0034	229	c.554 others(246): Show c.5542-333_5542-332insTAATATATATATTTAATATATATAATAT GTATATATAATATATATATAATATGTATATATAATATATATATAATATAT ATAATATATATATAATATATATATAATATATATAATATATATATATTATA TATATTATATATATATTATATATATATTATATATATATAATATATATAAT ATATATATAATATATATATAATATATATATATAATATATATATTTAAAAG T	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GGTGTCAT others(222): Show GGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0129	1	170	0.0059	229	c.86- others(242): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(222): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	422	0.0024	229	c.145 others(246): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC C	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(222): Show TATATATTATATATAATATATATTACATAATATATTACATAATATATTAT ATGTAATATATAATATATAATATATAATATATTATATATTATACATAATA TATAATATATAATATATATATTATATATATATTATGTATAATATATATAA TATATTATACATAATATATAATATATATTACGTAATATATTACATATATT ATATATAATATATATTACGTAATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0024g0300 a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0024g0300	3	312	0.0096	229	c.-38 others(240): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATTAT ATATATTATACATAATATATATATAATATATATATTATATATTATATATT ATGTATAATATATAATATATTATATATTATATATTATATATTACATATAA TATATTATGTAATATATTATGTAATATATATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
EXD3_chr9_137301896_137428162	137355621	G G	GGAGGAAG others(222): Show GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGA GGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGG AAGGAGGAAGGAGAAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0001 a0030c0032t0001	a0030c0032t0001g0054 a0030c0032t0001g0054	1	82	0.0122	229	c.757 others(244): Show c.757+646_757+647insTTCCTCCTTCCTCCTTTCTCCTTCCTCCTT CCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCC TCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946553	T T	TATAAAAA others(222): Show TATAAAAATATATAAATACATAATATATAAATATAAAATATATATAATAT ATAAAATATATTAAAAATATAAAAATATATATAAAAATATATATAAATAT ATAAAAATATATAAAAAATATATACACATATAAATATATATAAAAATATA TAAATATATATAAAAATATATAAATATATATTATATATAAATATATAATA TATAAATATATATAAATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp2 HG02129.hp1 others(7): Show HG00621.hp2 HG02015.hp2 HG02129.hp1 NA18747.hp2 NA18943.hp2 NA18963.hp1 NA18974.hp1 NA18986.hp1 NA19003.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0197 others(7): Show a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0225	10	344	0.0291	229	c.617 others(246): Show c.617-1418_617-1417insTTATATATTATATATTTATATATATTTA TATATTATATATTTATATATAATATATATTTATATATTTTTATATATATT TATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTT ATATATTTATATATATTTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATTATGTATTTATATATTTTTA T	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FRAS1_chr4_78052323_78549269	78322566	T T	TTCTTTTT others(222): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0085 a0085	a0085c0112 a0085c0112	a0085c0112t0001 a0085c0112t0001	a0085c0112t0001g0098 a0085c0112t0001g0098	1	178	0.0056	229	c.213 others(248): Show c.2137+3585_2137+3586insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTC TTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	18/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(222): Show CGGGGGGCGGGGGGAGGAGAGGGGGAGAGGGGAGGGGACCGGGTAGGGTG GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGA GGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGATGGGGGCG GGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	364	0.0028	229	c.-20 others(238): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGAGAGGGGAGGGG ACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGG GGCGGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGG AGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(222): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGA GGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGG GGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCG GGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0088 a0001c0001t0001g0089	2	364	0.0055	229	c.-20 others(238): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCG GGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGG GGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(222): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGA GGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGG GGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGCG GGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	364	0.0028	229	c.-20 others(238): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGG GGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGA GGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(222): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGA GGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGG GGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCG GGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	364	0.0028	229	c.-20 others(238): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGG GGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(222): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGCG GGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	364	0.0028	229	c.-20 others(238): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGAGGGGAGGGGGCGGCGGGGA GGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(222): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGAGGGGATGGGGGCG GGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0137 a0002c0007t0002g0137	1	364	0.0028	229	c.-20 others(238): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807933	C C	CCTCCCCC others(222): Show CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCTGCAGGCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	314	0.0032	229	c.37 others(240): Show c.3767_*3768insCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3647		chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298575	T T	TTGTATAT others(222): Show TTGTATATATAAATTATATATAAATTGTATATATAATTTATATATACATT GTATATATAATTTATATATACATTGTATATATAAATTGTATATATAATTT ATATATACATTGTATATATAAATTATATATACATTGTATATATAATTTAT ATATACAATGTATATATTAATTATATATACATTGTATATATAATTTATAT ATACAATTTATATATACATTGTATATACAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0160 a0001c0001t0048g0160	1	214	0.0047	229	c.976 others(246): Show c.976-2823_976-2822insATTATATATAAATTGTATATATAATTTA TATATACATTGTATATATAATTTATATATACATTGTATATATAAATTGTA TATATAATTTATATATACATTGTATATATAAATTATATATACATTGTATA TATAATTTATATATACAATGTATATATTAATTATATATACATTGTATATA TAATTTATATATACAATTTATATATACATTGTATATACAATGTATATATA A	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298575	T T	TTGTATAT others(222): Show TTGTATATATAATTTATATATAAATTGTATATATAATTTATATATACATT GTATATATAATTTATATATACATTGTATATATAAATTGTATATATAATTT ATATATACATTGTATATATAAATTATATATACATTGTATATATAATTTAT ATATACAATGTATATATTAATTATATATACATTGTATATATAATTTATAT ATACAATGTATATATACATTGTATATACAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	214	0.0047	229	c.976 others(246): Show c.976-2813_976-2812insAATTGTATATATAATTTATATATACATT GTATATATAATTTATATATACATTGTATATATAAATTGTATATATAATTT ATATATACATTGTATATATAAATTATATATACATTGTATATATAATTTAT ATATACAATGTATATATTAATTATATATACATTGTATATATAATTTATAT ATACAATGTATATATACATTGTATATACAATGTATATATAATTTATATAT A	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298575	T T	TTGTATAT others(222): Show TTGTATATATAATTTATATATAAATTGTATATATAATTTATATATACATT GTATATATAATTTATATATACATTGTATATATAATTTATATATATAATTT ATATATACATTGTATATATAAATTATATATACATTGTATATATAATTTAT ATATACAATGTATATATTAATTATATATACATTGTATATATAATTTATAT ATACAATTTATATATACATTGTATATACAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0084 a0001c0001t0063g0084	1	214	0.0047	229	c.976 others(246): Show c.976-2813_976-2812insAATTGTATATATAATTTATATATACATT GTATATATAATTTATATATACATTGTATATATAATTTATATATATAATTT ATATATACATTGTATATATAAATTATATATACATTGTATATATAATTTAT ATATACAATGTATATATTAATTATATATACATTGTATATATAATTTATAT ATACAATTTATATATACATTGTATATACAATGTATATATAATTTATATAT A	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAAATTGT others(222): Show TAAATTGTATGTATAATTTATATATACATTGTATATATAAATTATATATA CATTGTATATATAATTTATATATACAATGTATATATTAATTTATATATAC ATTGTATATATAATTTATATATACATTGTATATATAAATTATATATACAA TGTATATATAATTTATATATACAATGTATATATAATTTATATATACATTG TATATACAATTTATATATACATTGTATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0088 a0001c0001t0079g0088	1	214	0.0047	229	c.976 others(246): Show c.976-2801_976-2800insAAATTGTATGTATAATTTATATATACAT TGTATATATAAATTATATATACATTGTATATATAATTTATATATACAATG TATATATTAATTTATATATACATTGTATATATAATTTATATATACATTGT ATATATAAATTATATATACAATGTATATATAATTTATATATACAATGTAT ATATAATTTATATATACATTGTATATACAATTTATATATACATTGTATAT A	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT9_chr12_132191372_132334589	132243320	A A	ACCACACC others(222): Show ACCACACCCCCTTCCCGGGGCCGTCCCTATACGCATTTACACACACAACA CGTACCCTTCCCGGGGCCGTCCCTATACCCATTACACACACACCACACCC CCTTCCCGGGGCCCTCCCTATACGCATTTACACACACGCCACACACCCTT CCCGGAGCCCTCCCTATACGCATTTACACACACGCCACACCCCCTTCCCA GGGCCCTCCCTATACGCATTTACACACACG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0158 a0001c0034t0004g0158	1	183	0.0055	229	c.107 others(248): Show c.1077+4589_1077+4590insCGTGTGTGTAAATGCGTATAGGGAGG GCCCTGGGAAGGGGGTGTGGCGTGTGTGTAAATGCGTATAGGGAGGGCTC CGGGAAGGGTGTGTGGCGTGTGTGTAAATGCGTATAGGGAGGGCCCCGGG AAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGACGGCCCCGGGAAGGG TACGTGTTGTGTGTGTAAATGCGTATAGGGACGGCCCCGGGAAGGGGGTG TGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAS6_chr13_113815549_113869076	113816133	T T	TGGGGAGA others(222): Show TGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGG CAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTC AGGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTG GATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGTGTGTTCTAAGCGTGTTCTGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01070.hp1 others(5): Show HG00140.hp2 HG00639.hp2 HG01070.hp1 HG02922.hp2 HG03195.hp1 HG03453.hp2 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0104	8	143	0.0559	229	c.47 others(240): Show c.4730_*4731insCATCCAGAACACGCTTAGAACACACTTGCCTCCC CGAAAAGAACTCGTGTCCCTGACCAGTAACTGCACCTCTCCCCATCCAGA ACACGCTGCGAACACGCTTGCCTCCCCGAAAAGAACTCGTGTCCCTGAGC AGTGACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGCCTC CCCGAAAAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4415		chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143211707	G G	GGAGGAGG others(222): Show GGAGGAGGGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGGCGGGGCAC AGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAAT GGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGG GAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGTA GCGGGGCGTGGGGGGAGGCGGGGCGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	106	0.0094	229	c.-15 others(240): Show c.-1561_-1560insGAGGAGGGGTGAAGATGACGGGAGGCGGTGCACG GGGGAGGCGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTGG GGAGAAGGGGCGAATGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAA GTAGGGGCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGG CGGGGCACCAGGGTAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1510		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218132	A A	ACCCCCAA others(222): Show ACCCCCAACACCACCCCCAACACCACCCAACACCACCCACCACCACCCAC CACCACCCACCACAAGGCCCAACACCACCCACAACTCCACCCCCCACACC ACCCCCCACACCACCCCCCACACCATCCCCAACACCACCCCAACACCACC CCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCAACACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	106	0.0094	229	c.26 others(240): Show c.2614_*2615insCCCCCAACACCACCCCCAACACCACCCAACACCA CCCACCACCACCCACCACCACCCACCACAAGGCCCAACACCACCCACAAC TCCACCCCCCACACCACCCCCCACACCACCCCCCACACCATCCCCAACAC CACCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		963		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46635618	G G	GGCCACTC others(222): Show GGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCTGGCC ACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTC CTGGGGGACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGG GGGACCGTGTCCTCCCTGCCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0038 a0001c0001t0027g0038	1	328	0.0031	229	c.163 others(246): Show c.163-2195_163-2194insTTCCCTGCCCCCGCCCCTGGCCACTCCT GTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCC TGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGG GACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGGACC GTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGGACCGTGT C	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635733	C C	CGTGTCTT others(222): Show CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCTGTA TCTTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCT GCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACTGTGTCCTCCCTGCCCC CACTCCCAGCCACCCCTGTCCAGGGGAGCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	328	0.0031	229	c.163 others(246): Show c.163-2102_163-2101insTTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGAGGCTGTATCTTCCCTGCCCCCGCCCCTGGCCACTCCTGTCC TGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGG AGGCCGTGTCCTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACT GTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGT C	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GSE1_chr16_85608322_85681200	85653289	C C	CCTCCTCC others(222): Show CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCTCCCCCCTCCTCCTCCCCCTCCCCCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCCCTCCTCC CCCCCCCTCCTCCTCTTCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCTCCTACCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0265 a0004c0007t0010g0265	1	290	0.0035	229	c.427 others(244): Show c.427-988_427-987insTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCCTCCCCCCTCCTCCTCCCCCTCCCCCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCTTCCCTCCTCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTACCCCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(222): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01069.hp1 others(19): Show HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01168.hp1 HG01258.hp1 HG01934.hp1 HG02015.hp1 HG02040.hp1 HG03654.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18962.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA19056.hp1 NA19060.hp1 NA19068.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0074 others(19): Show a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0174 a0001c0001t0002g0022 a0001c0001t0018g0076	22	176	0.1250	229	c.349 others(248): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATGTGTATATATAC GTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(222): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CGTGTATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	176	0.0057	229	c.349 others(248): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACGTGTATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATGTGTATATATAC GTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322793	A A	ACGGAATA others(222): Show ACGGAATATATATATACGGAATGTATATACGGAATATATATACGGAATGT ATATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAAT GTATATACGGAATATATATACGGAATGTATATACGGAATATATATACGGA ATGTATATACGGAATATATATACGGAATGTATATATGGAATATATATACG GAATGTATATATATGGAATATATACGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	323	0.0031	229	c.-22 others(240): Show c.-2263_-2262insCGGAATATATATATACGGAATGTATATACGGAAT ATATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGA ATATATATACGGAATGTATATACGGAATATATATACGGAATGTATATACG GAATATATATACGGAATGTATATACGGAATATATATACGGAATGTATATA TGGAATATATATACGGAATGTATATATATGGAATATATACGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2176		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322886	T T	TATATATA others(222): Show TATATATATAATATATATATGGAATATATATATACGGAATATATATATAA TATATATATGGAATATATATACGGAATATATATATACGGAATATATATAC GGAATGTATATACGGAATATATATACGGAATGTATATACGGAATATATAT ACGGAATGTATATATACGGAATATATATATACGGAATGTATATATACGGA ATGTATATATACGGAATATATATATACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0130 a0001c0001t0020g0130	1	323	0.0031	229	c.-21 others(240): Show c.-2170_-2169insATATATATAATATATATATGGAATATATATATAC GGAATATATATATAATATATATATGGAATATATATACGGAATATATATAT ACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTAT ATACGGAATATATATACGGAATGTATATATACGGAATATATATATACGGA ATGTATATATACGGAATGTATATATACGGAATATATATATACGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2083		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132611025	A A	AGGAGAGG others(222): Show AGGAGAGGCCCTGTCAGAGGAGGATGAGGGAGGTGAGTTGGGCAGGGCAG AGGCCCTGTCAGAGGAGGATGTGGGGTGGGAGGTGAGGTGGGCAGGGGAG AGGCCCTGTCTGAGGATGGTGAGGGAGGTTAGGAGTTCATGGGAGAGGCC CTGTCAGGGGAGAGTGAGGGAGGTGAGGAGTTCATGGGAGAGGCCTGTCA GAGGAGGATGAGGGAGGTGAGGTGGGCAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 HG03579.hp1 HG02486.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0002 a0001c0006t0001 a0001c0006t0008 a0001c0005t0002 a0001c0006t0001 a0001c0006t0008	a0001c0005t0002g0040 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0005t0002g0040 a0001c0006t0001g0188 a0001c0006t0008g0187	3	204	0.0147	229	c.117 others(246): Show c.117+3106_117+3334dupTTGGGCAGGGCAGAGGCCCTGTCAGAGG AGGATGTGGGGTGGGAGGTGAGGTGGGCAGGGGAGAGGCCCTGTCTGAGG ATGGTGAGGGAGGTTAGGAGTTCATGGGAGAGGCCCTGTCAGGGGAGAGT GAGGGAGGTGAGGAGTTCATGGGAGAGGCCTGTCAGAGGAGGATGAGGGA GGTGAGGTGGGCAGGGGAGAGGCCCTGTCAGAGGAGGATGAGGGAGGTGA G	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(222): Show TAAGAAAAGAAAAGAAAGAAAAGAAACGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	308	0.0033	229	c.127 others(248): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCGTTTCTTTTCTTTCTTTTCTTTT CTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229764	C C	CCCTCCTC others(222): Show CCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCG TCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	252	0.0040	229	c.10- others(246): Show c.10-16078_10-16077insCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA C	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(222): Show ACCACACACCAACACACACCACACCCCTAACCATACCACACCCACACCAC ACACCCACACACACCACACCACCCCCAACACACACCACACCCACCCCAAC ACTCACCACACCACCCCACACTTGCACACCCCAACACCCCACACCCTCAC ACCACACACCAACACACACCACCACCCACACCACTCATAAACACAACCCA CACCCAACACACTACCCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	308	0.0033	229	c.-40 others(240): Show c.-4083_-4082insGATGTGTGGATGTGGGTAGTGTGTTGGGTGTGGG TTGTGTTTATGAGTGGTGTGGGTGGTGGTGTGTGTTGGTGTGTGGTGTGA GGGTGTGGGGTGTTGGGGTGTGCAAGTGTGGGGTGGTGTGGTGAGTGTTG GGGTGGGTGTGGTGTGTGTTGGGGGTGGTGTGGTGTGTGTGGGTGTGTGG TGTGGGTGTGGTATGGTTAGGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
IZUMO3_chr9_24537952_24550897	24546527	T T	TTTTCTTT others(222): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	426	0.0024	229	c.-87 others(238): Show c.-879_-878insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		631		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132097968	T T	TTTCCCTT others(222): Show TTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTT TCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTC CCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTCCCCTTCCCCTTTCCT TCCCCTTTCCCTTTCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTC CCTTCCCCTTTCCCTTCCCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	158	0.0063	229	c.-13 others(248): Show c.-137-6704_-137-6703insTTCCCTTCCCCTTTCCCTTCCCCTTT CCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCC CTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCT TCCCCTTCCCCTTCCCCTTTCCTTCCCCTTTCCCTTTCCTTCCCCTTTCC CTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCT TCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23			chr10	TogoVar
JPH2_chr20_44101590_44192188	44132796	A A	ACCCCCAC others(222): Show ACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTC CCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACC TGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCAC CCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCG TCCCCCCTCCACACGTGTAGCTCTCCCCAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	338	0.0030	229	c.117 others(250): Show c.1170-14174_1170-14173insGTGGGGAGAGCTACACGTGTGGAG GGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGG GGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGA GCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTG GAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGT GGGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132805	G G	GTCCCCCT others(222): Show GTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCAC ACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCT CACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCCACCGTCCCCCTC CACACGTGTAGCTCTCCCCACCCCCACCGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0312 a0001c0001t0007g0312	1	338	0.0030	229	c.117 others(250): Show c.1170-14183_1170-14182insGCGGTGGGGGTGGGGAGAGCTACA CGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228746	C C	CACCAAAC others(222): Show CACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTC ACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCC CTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCC CAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACA CTCACCCGAAAGATCCCTCTCCACCCCCCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0111 a0001c0001t0016g0111	1	398	0.0025	229	c.64+ others(246): Show c.64+11893_64+11894insTGGGGGGTGGAGAGGGATCTTTCGGGTG AGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGT TGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGG T	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228826	T T	TCACCACT others(222): Show TCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCCGAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTC TCCACCCCCCCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCGCAA CCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACT CACCCGAAAGATCCCTCTTCACCCCCCAAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0393 a0001c0001t0187g0393	1	398	0.0025	229	c.64+ others(246): Show c.64+11813_64+11814insGTTGGGGGGTGAAGAGGGATCTTTCGGG TGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGT GGTTGCGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGGGGGGTG GAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTCTCGG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT G	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229170	C C	CATCACCA others(222): Show CATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCAC CCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTC TCCACCCCCACACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAAC CACCAAACACTCACCTGAGAGATCCCTCTCCACCCCGCAACCACCAAACA CTCACCTGAGAGATCCCTCTCCACCCCCCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18747.hp2 HG01975.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0048 a0001c0004t0145 a0001c0001t0048 a0001c0004t0145	a0001c0001t0048g0057 a0001c0004t0145g0037 a0001c0001t0048g0057 a0001c0004t0145g0037	2	398	0.0050	229	c.64+ others(246): Show c.64+11469_64+11470insTGGGGGGTGGAGAGGGATCTCTCAGGTG AGTGTTTGGTGGTTGCGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGG TGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGA T	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229266	G G	GATCCCTC others(222): Show GATCCCTCTCCACCCCCCCACCACCACTCACCCGAAAGATCCCTCTCCAC CCCCCAACCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACC ACTCACCTGAGATCCCTCTCCACCCCCCAACCACCACTCACCTGAAAGAT CCCTCTCCACCCCCCCACCACTAAACACTCACCCGAAAGATCCCTCTCCA TGCCCCCCCACCACCAAACACTCACCTGAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0346 a0001c0001t0148g0346	1	398	0.0025	229	c.64+ others(246): Show c.64+11373_64+11374insTTCAGGTGAGTGTTTGGTGGTGGGGGGG CATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAG GGATCTTTCAGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTCAGGTGA GTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGGGGGGTGGAGAGGGA T	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112514739	A A	AGCCGCCC others(222): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCTCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	308	0.0033	229	c.-25 others(248): Show c.-25+27670_-25+27671insGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112514821	G G	GCTCGCCA others(222): Show GCTCGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCGGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGAGGGAGGTGGGGGGGGGGGGTCGGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	308	0.0033	229	c.-25 others(248): Show c.-25+27704_-25+27705insTCGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGAGGGAGG TGGGGGGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTCAGCCCCC CAC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112514821	G G	GCTCGGCC others(222): Show GCTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	308	0.0033	229	c.-25 others(248): Show c.-25+27704_-25+27705insTCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CAC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar

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