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
SHISA9_chr16_12896598_13245416	13015987	T T	TCCCCTCC others(282): Show TCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0138 a0001c0001t0063g0138	1	128	0.0078	289	c.691 others(308): Show c.691+99172_691+99173insCCCCTCCCCTCCCCTCCCCTTCCCCT TCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGG others(282): Show AGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGG TGCCCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTC TGACCATGTCTGGATACAGTCGGTGGGGGGGGTGGTGCCCAGCTCTGACC ATGTCTGGATACAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGAT GCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGG GGGGTGCCCAGCTCTGACCATGTCTCAATGCAGTCGGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	139	0.0072	289	c.-15 others(306): Show c.-153-961_-153-960insCCCCCGACTGCATTGAGACATGGTCAGA GCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACT GTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGTATC CAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGGT CAGAGCTGGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTG GGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(282): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTGTATATATATACACATAGTATATATATTCTAC GTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTATACAC ATATATACATAGAATATATATACTATGTGTATATATATACACGTAGAATA TATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATAT ACGTAGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	52	0.0192	289	c.174 others(308): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTGTATATATAT ACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTATATA TATTCTACGTGTATGTATACACATATATACATAGAATATATATACTATGT GTATATATATACACGTAGAATATATATACTATGTGTATATATACGTAGAA TATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATAT ATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(282): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTGTATATATATACACATAGTATATATATTCTAC GTGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTATAC ACATATATACATAGAATATATATACTATGTGTATATATATACGTAGAATA TATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATAT ACGTAGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp1 HG02280.hp1 others(8): Show HG00639.hp1 HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02896.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 NA18972.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0043	a0001c0001t0001g0011 a0001c0001t0003g0180 a0001c0001t0006g0169 others(8): Show a0001c0001t0001g0011 a0001c0001t0003g0180 a0001c0001t0006g0169 a0001c0001t0007g0045 a0001c0001t0011g0161 a0001c0001t0012g0178 a0001c0001t0021g0015 a0001c0001t0021g0018 a0001c0001t0023g0179 a0001c0001t0024g0170 a0001c0001t0043g0016	11	62	0.1774	289	c.174 others(308): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTGTATATATAT ACACATAGTATATATATTCTACGTGTGTGTATATATATACACATAGTATA TATATTCTACGTGTATGTATACACATATATACATAGAATATATATACTAT GTGTATATATATACGTAGAATATATATACTATGTGTATATATACGTAGAA TATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATAT ATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(282): Show GTGTATATATATACACATAGTATATATATTCTACGTGTATATATATACAC ATAGTATATATATTCTACGTGTATATATATACACATAGTATATATATTCT ACGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGTATAC ACATATATACATAGAATATATATACTATGTGTATATATATACGTAGAATA TATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATAT ACGTAGAATATATATACTATGTGTATATATATATGTAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	52	0.0192	289	c.174 others(308): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTGTATATATATACACATAGTATATATATTCTACGTGTATATAT ATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTATA TATATTCTACGTGTATGTATACACATATATACATAGAATATATATACTAT GTGTATATATATACGTAGAATATATATACTATGTGTATATATACGTAGAA TATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATAT ATATATGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC46A2_chr9_112873920_112895876	112895773	C C	CCATCATC others(282): Show CCATCATCCATCCATCCATCCATCCACCCATCCACCCACCCATCATCCAT CCATCCCTCCATCCACCCCACCCATCATCCATCCATCCATCCACCCATCC ACCCACCCATCATACATCCATCCACCCATCCACCCACCCATCATCCATCC ATCCCTCCATCCACCCATCCACCCACCCATCATCCATCCATCCATCCATC CATCCACCCATCCACCCACCCATCATCCATCCATCCCTCCATCCACCCAT CCACCCCACCCATCATCCATCTATCCATTAACCCACCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0037 a0001c0010t0001g0037	1	157	0.0064	289	c.-50 others(300): Show c.-5093_-5092insATGGGTGGGTTAATGGATAGATGGATGATGGGTG GGGTGGATGGGTGGATGGAGGGATGGATGGATGATGGGTGGGTGGATGGG TGGATGGATGGATGGATGGATGGATGATGGGTGGGTGGATGGGTGGATGG AGGGATGGATGGATGATGGGTGGGTGGATGGGTGGATGGATGTATGATGG GTGGGTGGATGGGTGGATGGATGGATGGATGATGGGTGGGGTGGATGGAG GGATGGATGGATGATGGGTGGGTGGATGGGTGGATGGATGGATGGATGGA TGATG	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding		4898		chr9	TogoVar
SMYD3_chr1_245744347_246512279	246024406	A A	AGGGAGAT others(282): Show AGGGAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATACAGCAAGTG GACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATCTAGGAAGGG AGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAGTGGACA GCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGGAAGACAGAT ACAGGAAGTGGACAGCATCTAGGAAGAGAGATACAGCAAGTGGACAGCAT CTAGGAAGACAGATACAGCAAGTGGACAGCATCTAGGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19000.hp2 NA19240.hp1 HG01433.hp2 NA19000.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0080 a0001c0001t0002g0046 a0001c0006t0001g0071 a0001c0001t0001g0080 a0001c0001t0002g0046 a0001c0006t0001g0071	3	86	0.0349	289	c.532 others(308): Show c.532-94470_532-94469insCTTCCTAGATGCTGTCCACTTGCTGT ATCTGTCTTCCTAGATGCTGTCCACTTGCTGTATCTCTCTTCCTAGATGC TGTCCACTTCCTGTATCTGTCTTCCTAGATGCTGTCCACTTCCTGTATCT TCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATGCTGTC CACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTTT TCCTAGATGCTGTCCACTTGCTGTATCTCTCTTCCTAGATGCTGTCCACT TCCTGTATCTCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(282): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	6	0.1667	289	c.138 others(308): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCCCTCC CCTCCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(282): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAATATT TAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAATTA TAAATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATT TAAAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAT TATAAATATTAAAATATTTAAAATTATTTTAAAATATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	284	0.0035	289	c.649 others(306): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAATTT AAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTTTAAATA TTTTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAAT TTAAAATAATTAAATATTTAAAATAATTTTAAATATTTTAATAATTATAT TTTAAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTTTAA ATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
ST3GAL4_chr11_126350686_126419638	126388309	T T	TTGGCTAT others(282): Show TTGGCTATTTTTATTTTATTTCTTTTTTCTTTTCTTTTTTAAGACAGAGT CTCGCTCTCTCTCCCAGGCTGGAGTGAAGTGGCTTAATCCTGGCTCACTG CAACCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTAAG TAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTATATTT TTAGTAGAGGTGGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCA TGACCTCAAATGATCCATCCACCTTGGCCTTCCAGAATGC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	322	0.0031	289	c.-60 others(308): Show c.-60-17783_-60-17495dupCTATTTTTATTTTATTTCTTTTTTCT TTTCTTTTTTAAGACAGAGTCTCGCTCTCTCTCCCAGGCTGGAGTGAAGT GGCTTAATCCTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTC TTCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCACCTGCCACCATG CCTGGCTAATTTTTATATTTTTAGTAGAGGTGGGGGTTTTACCATGTTGG CCAGGCTGGTCTCGAACTCATGACCTCAAATGATCCATCCACCTTGGCCT TCCAGAATGCTGG	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(282): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTAGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGACTGC TGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCG GCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02647.hp2 others(6): Show HG02451.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03041.hp2 HG03139.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0042 others(3): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0042 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056	a0001c0001t0012g0207 a0001c0001t0016g0017 a0001c0001t0016g0149 others(4): Show a0001c0001t0012g0207 a0001c0001t0016g0017 a0001c0001t0016g0149 a0001c0001t0042g0079 a0001c0001t0049g0211 a0001c0001t0050g0210 a0001c0001t0056g0209	9	49	0.1837	289	c.483 others(302): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAG GGCTAGCAGCAGTCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGG CACTGGGCGGGGGCGGGGCTAGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(282): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGC TGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCG GCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0124 a0001c0001t0011g0124	1	41	0.0244	289	c.483 others(302): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGG GCAGGGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(282): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATATTATATATGATTATAA AATATAATTATATATATTATATATGATTATAAAATATAATTATATATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19060.hp1 NA19078.hp2 NA18979.hp1 NA19060.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0171	3	11	0.2727	289	c.75 others(300): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATAT TATATATGATTATAAAATATAATTATATATATTATATATGATTATAAAAT ATAATTATATATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(282): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGA GGAGTGTGAGCTGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	206	0.0049	289	c.395 others(306): Show c.395-5771_395-5770insAGGAGCCGTGGGAAGAGGGTCATGGAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAG TGTGAGCTGGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(282): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAG GAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAA GGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18995.hp1 NA19077.hp1 others(2): Show HG02027.hp1 NA18995.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0005 a0002c0002t0001 a0003c0004t0005	a0002c0002t0001g0081 a0002c0002t0001g0092 a0002c0002t0001g0278 others(2): Show a0002c0002t0001g0081 a0002c0002t0001g0092 a0002c0002t0001g0278 a0002c0002t0001g0284 a0003c0004t0005g0209	5	210	0.0238	289	c.395 others(306): Show c.395-5850_395-5849insGCTGTCTGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGT AGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGT GTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGAGTG others(282): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAG GAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAA GGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02293.hp1 HG02602.hp1 others(3): Show HG01255.hp2 HG02293.hp1 HG02602.hp1 HG02602.hp2 NA18747.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0012t0001 a0002c0002t0001 a0001c0001t0001 a0001c0012t0001 a0002c0002t0001	a0001c0001t0001g0178 a0001c0012t0001g0137 a0002c0002t0001g0107 others(3): Show a0001c0001t0001g0178 a0001c0012t0001g0137 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0116	6	224	0.0268	289	c.395 others(306): Show c.395-5738_395-5737insGTGGGAAGAGGGTCATGGAGGAGTGTGA GCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGT GAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGA GTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGA AGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGG GGGGAGGAGCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGAGTG others(282): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAG GAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAA GGACTGTCTGGGGGGAGGAGCCGTGGGGAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	219	0.0046	289	c.395 others(306): Show c.395-5738_395-5737insGTGGGGAGAGGGTCATGGAGGAGTGTGA GCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGT GAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGA GTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGA AGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGG GGGGAGGAGCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48641165	C C	CCTTGTTG others(282): Show CCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCC TATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCT TGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTAT GGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGT TGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGG ACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG06807.hp1 HG02976.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018	a0001c0001t0002g0010 a0001c0001t0004g0027 a0001c0001t0018g0028 a0001c0001t0002g0010 a0001c0001t0004g0027 a0001c0001t0018g0028	3	251	0.0120	289	c.113 others(306): Show c.113-5431_113-5430insTTGTTGGGGCAGTGAGAACAGTGGGGGG CTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82848817	T T	TCTGCTGC others(282): Show TCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTC TCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTC CCCCTCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCT GTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACC TTGATGTCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCT CTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01261.hp2 others(12): Show HG01167.hp2 HG01169.hp2 HG01261.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 NA19030.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0020 a0002c0007t0033 a0002c0008t0007 a0002c0007t0020 a0002c0007t0033 a0002c0008t0007	a0002c0007t0020g0044 a0002c0007t0020g0138 a0002c0007t0033g0136 others(12): Show a0002c0007t0020g0044 a0002c0007t0020g0138 a0002c0007t0033g0136 a0002c0008t0007g0140 a0002c0008t0007g0142 a0002c0008t0007g0143 a0002c0008t0007g0144 a0002c0008t0007g0145 a0002c0008t0007g0146 a0002c0008t0007g0147 a0002c0008t0007g0154 a0002c0008t0007g0156 a0002c0008t0007g0157 a0002c0008t0007g0158 a0002c0008t0007g0159	15	51	0.2941	289	c.131 others(310): Show c.1319-21293_1319-21292insTGTCTTCTCCACCTCGATGTCCCC CTCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCG TCTTCTCCACCTTGATGTCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTC GATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTG CCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTC TCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTC CCCCTCTGCCTGCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82848832	C C	CCACCTCG others(282): Show CCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCC CCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGC GTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTC GATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCGCTC TGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTT CTCCACCTTGATGTCCCCCGCTCTGCCTGCTGTGTCTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0034 a0001c0009t0008g0123 a0001c0009t0008g0034 a0001c0009t0008g0123	2	316	0.0063	289	c.131 others(310): Show c.1319-21341_1319-21340insTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCT TCTCCACCTCGATGTCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCGAT GTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCTCTGC CTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTC CACCTCGATGTCCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(282): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCC TCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCAT CCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCT CTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCTCC CCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02723.hp2 others(1): Show HG02109.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0187 a0001c0001t0008g0173 a0001c0001t0008g0176 others(1): Show a0001c0001t0005g0187 a0001c0001t0008g0173 a0001c0001t0008g0176 a0001c0001t0008g0177	4	248	0.0161	289	c.186 others(306): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTC CCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTC CCCTCCCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412192	T T	TCCCTTCC others(282): Show TCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCCCTCCC CTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	257	0.0039	289	c.186 others(306): Show c.186-2238_186-2237insTTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTC CTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTT CCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCC TCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBXAS1_chr7_139824264_140025293	139950811	T T	TTCCATCT others(282): Show TTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0163 a0016c0014t0001g0163	1	65	0.0154	289	c.451 others(306): Show c.451-2476_451-2475insGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTAC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCAGCTC others(282): Show CCCAGCTCCCAGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTC CCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCC CAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCC AGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCA CCTCCCAGCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCAG CTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	2	0.5000	289	c.179 others(306): Show c.1799+511_1799+512insCCAGCTCCCAGCTCCCACCTCCCAGTTT CCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCC CAGCTCCCACCTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCC AGCTCCTGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCT CCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCAC CTCTCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACC TCCCAGCTCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCAGCTC others(282): Show CCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTC CCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCC CAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCC AGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCA CCTCCCAGCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCAG CTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(138): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0010 a0006c0012 others(1): Show a0001c0001 a0001c0010 a0006c0012 a0008c0011	a0001c0001t0001 a0001c0010t0001 a0006c0012t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0006c0012t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0010t0001g0004 a0006c0012t0001g0254 a0008c0011t0001g0120	141	142	0.9930	289	c.179 others(306): Show c.1799+511_1799+512insCCAGCTCCCGGCTCCCACCTCCCAGTTT CCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCC CAGCTCCCACCTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCC AGCTCCTGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCT CCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCAC CTCTCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACC TCCCAGCTCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TCF25_chr16_89868592_89916379	89907833	C C	CCCAGCTC others(282): Show CCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTC CCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCC CAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCC AGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCA CCTCCCAGCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTTCTCCCAG CTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	2	0.5000	289	c.179 others(306): Show c.1799+511_1799+512insCCAGCTCCCGGCTCCCACCTCCCAGTTT CCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCC CAGCTCCCACCTCCCACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCC AGCTCCTGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCT CCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCAC CTCTCTCCTCCCTTCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACC TCCCAGCTCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(282): Show CTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG03834.hp1 HG02451.hp1 HG02896.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0206 a0001c0002t0004g0209 a0001c0002t0004g0216 a0001c0002t0004g0206 a0001c0002t0004g0209 a0001c0002t0004g0216	3	238	0.0126	289	c.164 others(308): Show c.1644+1396_1644+1397insTTTTTTTTTGAGACGGAGTCTTGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTTT TTTTTTTTTTTTT	TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(282): Show CTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0219 a0001c0002t0004g0219	1	236	0.0042	289	c.164 others(308): Show c.1644+1396_1644+1397insTTTTTTTTTGAGACGGAGTCTTGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTTT TTTTTTTTTTTTT	TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(282): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0220 a0001c0002t0010g0220	1	236	0.0042	289	c.164 others(308): Show c.1644+1396_1644+1397insTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT TTTTTTTTTTTTT	TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDP1_chr14_89950927_90049764	90020800	C C	CTTTTTTT others(282): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0213 a0001c0002t0004g0213	1	236	0.0042	289	c.164 others(308): Show c.1644+1396_1644+1397insTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTTTT TTTTTTTTTTTTT	TDP1	ENSG00000042088.14	transcript	ENST00000335725.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
TERT_chr5_1248167_1300068	1272607	C C	CCACATCA others(282): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCCATGACCAACCACCATCTAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	204	0.0049	289	c.228 others(306): Show c.2287-328_2287-327insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169243046	C C	CTTCCCAC others(282): Show CTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCATCACTCCCAC CTTCCCACCGCTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCAC CTTCCCACCGCTCCCACCTTCCCACCTTCCCACCTTCCCACCACTCCCAC CTTCCCAGTGCTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCAC CTTCCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACATTCGCACCTTCCCACCTTCCCACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0038 a0001c0002t0020g0038	1	390	0.0026	289	c.695 others(306): Show c.695-1089_695-1088insTGTGGGAAGGTGGGAAGGTGCGAATGTG GGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGG AGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGG AGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGG GAAGGTGGGAA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243061	C C	CCGCTCCC others(282): Show CCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCATCACTCCC ACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCC ACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCTTCCCACCACTCCC ACCTTCCCAGTGCTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCC ACCTTCCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCA CCTTCCCACCTTCCCACATTCGCATCTTCCCACCTTCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02615.hp1 HG02809.hp1 others(8): Show HG00735.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0010 a0003c0012 a0002c0010 a0003c0012	a0002c0010t0009 a0003c0012t0007 a0002c0010t0009 a0003c0012t0007	a0002c0010t0009g0024 a0002c0010t0009g0025 a0002c0010t0009g0204 others(4): Show a0002c0010t0009g0024 a0002c0010t0009g0025 a0002c0010t0009g0204 a0002c0010t0009g0205 a0003c0012t0007g0005 a0003c0012t0007g0042 a0003c0012t0007g0043	11	394	0.0279	289	c.695 others(306): Show c.695-1104_695-1103insTGGGAAGGTGGGAAGATGCGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA ATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAG CACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAG CGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAG CGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCGGTGGGAAGGTGGGA AGGTGGGAGCG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	376928	T T	TGTGCCCC others(282): Show TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTC TCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	348	0.0029	289	c.-95 others(298): Show c.-959_-958insGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGGG GGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGGGGCACGGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG CAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		903		chr19	TogoVar
THEG_chr19_356747_381026	377340	C C	CCCCTGTG others(282): Show CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCGTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCC AGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	168	0.0060	289	c.-13 others(300): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGA GAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCAC ACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCCACC others(282): Show CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	318	0.0031	289	c.-15 others(300): Show c.-1533_-1532insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818549	A A	ACCAAGGA others(282): Show ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0130 a0001c0001t0020g0130	1	229	0.0044	289	c.52 others(300): Show c.5273_*5274insCCAAGGATAACTAAGGTCAGAGCAGGTGACCAAG GATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAA GGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAG GTGAC	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2743		chr19	TogoVar
TMC1_chr9_72516608_72843297	72835691	T T	TGTTACAA others(282): Show TGTTACAAAAAAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19030.hp2 HG00735.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0103 a0001c0001t0012g0105 a0001c0001t0012g0103 a0001c0001t0012g0105	2	174	0.0115	289	c.226 others(306): Show c.2261-248_2261-247insGCCGAGGCGGGTGGATCATGAGGTCGGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG TTACAAAAAAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(282): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGAGGAGAGGGAGGAGAGAAGAGGGGAG GGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAG GAAAGGGGAGGAAAGGGGAGGGGGAGAAGAGGGGAGGGAGAAGAGGGGAG GGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGACGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	97	0.0103	289	c.612 others(304): Show c.612-588_612-587insCTCGTCTCCCCTCCCCTCCCCTCGTCTCCC CTCCCCTCCCCTCCCCTCTTCTCCCTCCCCTCTTCTCCCCCTCCCCTTTC CTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTC CTCCCCTCCCCTCCCCTCTTCTCTCCTCCCTCTCCTCCCTCTCCTCCCCT CCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGT CTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCT CCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(282): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGGAGGGGAGGAGAGAAGAGGGGGAGGGGAGGGGAGGAAAGG GGAGGAAAGGGGAGGGGAAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	97	0.0103	289	c.612 others(304): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTTCCCCTCC CCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCCTCTTCTCTCCTCCCCTC CCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCT CCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCT CCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGT CTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCT CCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(282): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAGAAGAGGGGAGGGGGAG GGGAGGAGAAGGGGAGGGGAGGAGAGAAGAGGGAGGGGAGGGGAGGAAAG GGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	97	0.0103	289	c.612 others(304): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCTCTTCTCTCCTCCCCTCCCC TTCTCCTCCCCTCCCCCTCCCCTCTTCTCTCTCCTCCCCTCCCCTTTCCT CCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCT CCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGT CTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCT CCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287654	C C	CGCCGCAC others(282): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCTGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCTGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	343	0.0029	289	c.519 others(304): Show c.519+969_519+970insAGAGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCAGGGAGGGTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCAGGGAGGCTGCGGCGGGGAGGGTGCG GCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152550	A A	AGGGTGAG others(282): Show AGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGAAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAGTGAGAGTGGGGGT TGAAAAGGGGAGTGAGTGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTT GAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGAGGGGGTGAGAAGGAAGTGAGAGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	151	0.0066	289	c.51 others(300): Show c.5178_*5179insGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAA GGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGG AGTGAGAGTGGGGGTTGAAAAGGGGAGTGAGTGAGAGGGTGAGAAGGGGA GTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGAAGTGAG AGTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4808		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870742	C C	CCCCACAC others(282): Show CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	179	0.0056	289	c.35 others(308): Show c.35+22009_*35+22010insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(282): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATAATATATAATATATATTATTATATATTATTATATATAATAATAT AATATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0101 a0001c0002t0001g0067 a0001c0002t0001g0101	2	12	0.1667	289	c.392 others(306): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATTATATATAATAATATATAATAATATATATTATATTAT TATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UCK1_chr9_131518801_131536263	131522747	G G	GCAATATT others(282): Show GCAATATTGGTGTCCAGGGTGACCCACTCCAGTGGGCTGGAGCTGTACTT GTGTTCCGAGTCATCACTTCTCAGCGCCAGCATCCTCCACTGGAACAAAG CAGAGGCCTCTGAGATTGAGGATGGGGGATGCCTCCCGCTGTGCGTGGAT TTGGTCAAAGGAGTACACTGCTGCCCCTTGCACGTGGACTGGCCCAGCTC AAGTTCATTCGGATCATGCATCGGAGGCAGCATGATGAGAACCTGGATTC CAGCCCTGAATGTGGCCTTGGGAGGGTCGCCCCACCCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	422	0.0024	289	c.22 others(300): Show c.2292_*2293insATAGGGTGGGGCGACCCTCCCAAGGCCACATTCA GGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAAT GAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTT GACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGG CCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCG GAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAA TATTG	UCK1	ENSG00000130717.13	transcript	ENST00000372215.5	protein_coding		1053		chr9	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(282): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03579.hp1 NA19054.hp2 HG02280.hp2 HG03579.hp1 NA19054.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0013 a0004c0004 a0012c0013	a0004c0004t0001 a0012c0013t0012 a0004c0004t0001 a0012c0013t0012	a0004c0004t0001g0001 a0012c0013t0012g0001 a0004c0004t0001g0001 a0012c0013t0012g0001	3	284	0.0106	289	c.25 others(298): Show c.259_*260insGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGT GTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(282): Show ATCACCACCACCACCACCATTATCACCAGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCA TCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCA CTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACC ATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAG CACCACCATCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0156 a0003c0006t0001g0156	1	21	0.0476	289	c.127 others(306): Show c.1272+902_1272+903insCACCACCATTATCACCAGCACCACCGCC ATTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACT CATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTAT TATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCA CCACCATTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTC TTTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATC TTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(282): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCATCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	177	0.0056	289	c.483 others(304): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCATCCTTCCTGCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCC TCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZMYM5_chr13_19818482_19868649	19832900	T T	TAAAAAAA others(282): Show TAAAAAAATTGTTTTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCACCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19088.hp2 NA18982.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0007 a0003c0003t0003 a0003c0003t0007	a0003c0003t0003g0277 a0003c0003t0007g0278 a0003c0003t0003g0277 a0003c0003t0007g0278	2	254	0.0079	289	c.125 others(308): Show c.1251+2576_1251+2577insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCA AAACAATTTTTTT	ZMYM5	ENSG00000132950.19	transcript	ENST00000337963.9	protein_coding	7/7			chr13	TogoVar

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