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
TENT5A_chr6_81740730_81757681	81740896	C C	CATATTAT others(224): Show CATATTATATACTATATAATATGTATCATATTATATACTATATAATATGT ATCATATTATATACTATATAATATGTATCATATTATATACTATATAATAT GTATCATATTATATACTATATAATATGTATCATATTATATACTATATAAT ATGTATCATATTATATAGTATATAATATGTATCATATTATATACTATATA ATATGTATCATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	446	0.0022	231	c.87 others(242): Show c.8798_*8799insACATATTATATAGTATATAATATGATACATATTA TATAGTATATAATATGATACATATTATATACTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4833		chr6	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(224): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	392	0.0026	231	c.228 others(248): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272985	C C	CGCCATCC others(224): Show CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCA CAACCGCCATCCACAGTCACATCAGACCCCCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18943.hp2 NA19065.hp1 HG00597.hp1 NA18943.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0281 a0001c0001t0001g0317 a0001c0001t0001g0170 a0001c0001t0001g0281 a0001c0001t0001g0317	3	392	0.0077	231	c.228 others(248): Show c.2287-706_2287-705insTGGGGGTCTGATGTGACTGTGGATGGCG GTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376843	C C	CCCTCTGT others(224): Show CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAG CCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCC AGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0322	1	370	0.0027	231	c.-87 others(240): Show c.-874_-873insAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGT GGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGG GTGGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		818		chr19	TogoVar
THSD4_chr15_71110471_71788383	71769140	T T	TGGGGGGG others(224): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGTCGGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0106 a0001c0001t0037g0106	1	116	0.0086	231	c.277 others(250): Show c.2770-1918_2770-1917insGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCCCCCCCGCCCAGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(224): Show GAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0087 a0005c0004t0087	a0005c0004t0087g0191 a0005c0004t0087g0191	1	444	0.0023	231	c.227 others(250): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(224): Show AGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0047 a0004c0006t0002g0047	1	444	0.0023	231	c.227 others(250): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(224): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0203 a0005c0004t0003g0203	1	444	0.0023	231	c.227 others(250): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(224): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0051 a0004c0006t0002g0051	1	444	0.0023	231	c.227 others(250): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(224): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0257 a0001c0001t0077g0257	1	444	0.0023	231	c.227 others(250): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(224): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18971.hp1 NA19081.hp1 others(1): Show HG01952.hp1 NA18971.hp1 NA19081.hp1 NA19081.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0011 a0005c0004 a0001c0001 a0004c0011 a0005c0004	a0001c0001t0003 a0004c0011t0002 a0005c0004t0005 others(1): Show a0001c0001t0003 a0004c0011t0002 a0005c0004t0005 a0005c0004t0021	a0001c0001t0003g0264 a0004c0011t0002g0022 a0005c0004t0005g0427 others(1): Show a0001c0001t0003g0264 a0004c0011t0002g0022 a0005c0004t0005g0427 a0005c0004t0021g0211	4	444	0.0090	231	c.227 others(250): Show c.2277+1420_2277+1650dupCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(224): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0399 a0003c0003t0001g0399	1	444	0.0023	231	c.227 others(250): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(224): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0170 a0001c0005t0028g0170	1	444	0.0023	231	c.227 others(250): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115662	C C	CGAAGGGA others(224): Show CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	444	0.0023	231	c.227 others(250): Show c.2277+1606_2277+1607insACCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(224): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	444	0.0023	231	c.227 others(250): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(224): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0343 a0001c0001t0016g0343	1	444	0.0023	231	c.227 others(250): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM178B_chr7_141069064_141485380	141337038	C C	CCATCATC others(224): Show CCATCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACTACCACCACCATCACCACCACCACCATCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATC ATCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp2 HG02486.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0064 a0001c0002t0007g0053 a0001c0002t0001g0064 a0001c0002t0007g0053	2	80	0.0250	231	c.497 others(252): Show c.497-100568_497-100567insTCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACTACCACCACCATCACCACC ACCACCATCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCATCACCACCACCACCACCACCACCACC ACCATCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM178B_chr7_141069064_141485380	141337158	T T	TCACCACC others(224): Show TCACCACCACCACCATCATCACCACCACCACCACCACCACCACCATCACC ACCGCCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CAGCATCACCACCATCACCACCACCACCACCACCATCACCACCAGCATCA CCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCAGCATCACCACCATCACTAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0010 a0001c0001t0025g0010	1	80	0.0125	231	c.497 others(252): Show c.497-100436_497-100435insTCATCACCACCACCACCACCACCA CCACCATCACCACCGCCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCAGCATCACCACCATCACCACCACCACCACCACCATCAC CACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCAGCATCACCACCATCACTACCACCACC ACCACCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM255B_chr13_113754226_113821995	113816133	T T	TGGGGAGA others(224): Show TGGGGAGAGGTGCAGTCCTGCTCAGGGACACGGGTTCTTTTCGGGGAGGC AAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCA GGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGG ATGGGGAGGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGAGTGTTTTCTAAGCGTGTTCTGGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0132 a0002c0003t0132	a0002c0003t0132g0162 a0002c0003t0132g0162	1	260	0.0039	231	c.42 others(242): Show c.4245_*4246insCCTGCTCAGGGACACGGGTTCTTTTCGGGGAGGC AAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCA GGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGG ATGGGGAGGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGAGTGTTTTCTAAGCGTGTTCTGGATGGGGGAGAGGTGCAGT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4246	INFO_REALIGN_3_PRIME	chr13	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(224): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGAA AGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0209 a0001c0004t0001g0209	1	320	0.0031	231	c.612 others(246): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCTCCCCTCCC CTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCC CTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTTCTGCC CTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCCCTCCC C	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNR_chr1_175310194_175748595	175650988	C C	CTCATTAC others(224): Show CTCATTACTACCCCTCCCCACCTCATTATTCCACCTTCCCCACCTCATTA CTACCCCTCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCCT CCCCACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACC TCATTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACC CCTCCCCATCTCATTACTCCTCCTCCCTTACT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG02615.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0001 a0001c0003 a0003c0001	a0001c0003t0008 a0003c0001t0013 a0001c0003t0008 a0003c0001t0013	a0001c0003t0008g0004 a0003c0001t0013g0073 a0001c0003t0008g0004 a0003c0001t0013g0073	2	132	0.0152	231	c.-16 others(252): Show c.-165+92237_-165+92238insAGTAAGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATG AGGTGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGG AGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGGGGTA GTAATGA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TPO_chr2_1408463_1548673	1529554	C C	CTCCCAGT others(224): Show CTCCCAGTGTGTGCAACTTCCCTAAATCCCTCCAACTGTGTTTAGCTTCC CCAAATACCAACTGTGTGCAACCTCCTCACATCCCCACCACTCTGTGCAA CCTCTCCAAGTCACCCCTACTCTCTGCAGACTCCCCAAATCCCCCCCCAA TCTGTGCAACCTCCCCAAATCCCACCCAATTGTGGGCAACCACACAAAAT CCCGCCACTGTGTGCAACCTCACCAAATTTCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0071 a0004c0005t0005g0071	1	130	0.0077	231	c.261 others(252): Show c.2619-11040_2619-11039insTCCCAGTGTGTGCAACTTCCCTAA ATCCCTCCAACTGTGTTTAGCTTCCCCAAATACCAACTGTGTGCAACCTC CTCACATCCCCACCACTCTGTGCAACCTCTCCAAGTCACCCCTACTCTCT GCAGACTCCCCAAATCCCCCCCCAATCTGTGCAACCTCCCCAAATCCCAC CCAATTGTGGGCAACCACACAAAATCCCGCCACTGTGTGCAACCTCACCA AATTTCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRIB3_chr20_375760_402559	380878	T T	TGATTAGC others(224): Show TGATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATTAGCTCCGGTTTG CATCACCCGGACCGGGGGATTAGCTCCGGTTTGCATCACCCGGACCGGGG GATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATTAGCTCCGGTTTGC ATCACCCGGACCGGGGGATTAGCTCCGGTTTGCATCACCCGGACCGGGGG ATTAGCTCCGGTTTGCATCACCCGGACCGGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0010 a0001c0001t0017g0010	1	452	0.0022	231	c.-19 others(240): Show c.-192_-191insATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATT AGCTCCGGTTTGCATCACCCGGACCGGGGGATTAGCTCCGGTTTGCATCA CCCGGACCGGGGGATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATTA GCTCCGGTTTGCATCACCCGGACCGGGGGATTAGCTCCGGTTTGCATCAC CCGGACCGGGGGATTAGCTCCGGTTTGCATCACCCGGACCGGGGG	TRIB3	ENSG00000101255.12	transcript	ENST00000217233.9	protein_coding	1/4	7032	INFO_REALIGN_3_PRIME	chr20	TogoVar
TRIM28_chr19_58539064_58555715	58541463	C C	CACCCTGC others(224): Show CACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTC CCTCCTCAGACAGGATTCTCCCCCCACACATCCTGCTTCCCTCCTCAGAC AGGATTCTCCCTACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCC CACACACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCC TGCTTCCCTCAGACAGGATTCTCCCCACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	402	0.0025	231	c.-32 others(242): Show c.-3295_-3294insACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCC CACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACATCCTG CTTCCCTCCTCAGACAGGATTCTCCCTACACAGAACCTGCTTCCCTCCTC AGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTC TTCTCACACACACCCTGCTTCCCTCAGACAGGATTCTCCCCACACAG	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		2600		chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCATC others(224): Show TCACCATCATCACCATCACCACCACCACTGTCACCATCACCATCATCATG GCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCATCAA CACCATCACCACCACCACCACTGTCACCATCACCACCACCATCATCACCA CCACCATCACCATCACTATCACCACCACCATCACCACCATCACTATCACC ACCACCACCACCATCACCATAATTCCTACCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(42): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG01978.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG03491.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 NA18747.hp1 NA18947.hp1 NA18949.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0010 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0003c0003t0002 a0003c0003t0003 a0004c0004t0002 a0004c0010t0001 a0008c0008t0002	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 others(42): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0003g0044 a0001c0001t0003g0068 a0002c0002t0001g0168 a0002c0002t0001g0210 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0002g0004 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0217 a0002c0002t0002g0222 a0002c0002t0003g0193 a0002c0002t0005g0209 a0002c0002t0005g0219 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0100 a0003c0003t0002g0202 a0003c0003t0003g0099 a0004c0004t0002g0091 a0004c0010t0001g0144 a0008c0008t0002g0195 a0008c0008t0002g0196 a0008c0008t0002g0200 a0008c0008t0002g0205 a0008c0008t0002g0206 a0008c0008t0002g0207 a0008c0008t0002g0208	45	238	0.1891	231	c.144 others(252): Show c.1446+18395_1446+18396insGTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGG TGATGGTGTTGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTG GTGACAGCCATGATGATGGTGATGGTGACAGTGGTGGTGGTGATGGTGAT GATGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCATC others(224): Show TCACCATCATCACCATCACCACCACCACTGTCACCATCACCATCATCATG GCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCATCAT CACCATCACCACCACCACCACTGTCACCATCACCACCACCATCATCACCA CCACCATCACCATCACTATCACCACCACCATCACCACCATCACTATCACC ACCACCACCACCATCACCATAATTCCTACCAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0151 a0005c0005t0001g0151	1	238	0.0042	231	c.144 others(252): Show c.1446+18395_1446+18396insTTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGG TGATGGTGATGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTG GTGACAGCCATGATGATGGTGATGGTGACAGTGGTGGTGGTGATGGTGAT GATGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCATC others(224): Show TCACCATCATCACCATCACCACCACCACTGTCACCATCACCATCATCATG GCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCATCAT CACCATCACCACCACCACCACTGTCACCATCACCACCACCATCATCACCA CCACCATCACCATCACTATCACCACCACCATCACCACCATCACTATCACC ACCACCACCACCATCACCATAATTCCTACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00609.hp1 others(73): Show HG00099.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18963.hp2 NA18967.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0014	a0001c0001 a0002c0002 a0002c0014 others(10): Show a0001c0001 a0002c0002 a0002c0014 a0003c0003 a0004c0004 a0004c0010 a0005c0005 a0006c0006 a0007c0007 a0009c0019 a0010c0018 a0011c0020 a0014c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0014t0001 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0010t0001 a0005c0005t0001 a0006c0006t0001 a0006c0006t0002 a0007c0007t0001 a0007c0007t0002 a0009c0019t0002 a0010c0018t0002 a0011c0020t0001 a0014c0011t0002	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0057 others(73): Show a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0006g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0002g0139 a0002c0002t0002g0145 a0002c0002t0002g0155 a0002c0002t0002g0161 a0002c0002t0002g0174 a0002c0002t0002g0188 a0002c0002t0003g0178 a0002c0002t0007g0223 a0002c0014t0001g0171 a0003c0003t0001g0094 a0003c0003t0001g0114 a0003c0003t0001g0120 a0003c0003t0001g0121 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0191 a0004c0004t0002g0227 a0004c0010t0001g0037 a0005c0005t0001g0150 a0005c0005t0001g0180 a0005c0005t0001g0181 a0005c0005t0001g0182 a0006c0006t0001g0236 a0006c0006t0002g0228 a0006c0006t0002g0237 a0007c0007t0001g0017 a0007c0007t0002g0003 a0007c0007t0002g0043 a0007c0007t0002g0045 a0007c0007t0002g0046 a0007c0007t0002g0047 a0007c0007t0002g0053 a0007c0007t0002g0230 a0009c0019t0002g0116 a0010c0018t0002g0026 a0011c0020t0001g0147 a0014c0011t0002g0162	76	238	0.3193	231	c.144 others(252): Show c.1446+18395_1446+18396insGTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGG TGATGGTGATGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTG GTGACAGCCATGATGATGGTGATGGTGACAGTGGTGGTGGTGATGGTGAT GATGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870207	A A	ACACCCCA others(224): Show ACACCCCACACACACCACACACCCCACACACACCACACACCCTACACACC CCACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCC CATACACACCACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	338	0.0030	231	c.35 others(250): Show c.35+21477_*35+21478insCCCACACACACCACACACCCCACACA CACCACACACCCTACACACCCCACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(224): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TACGTATATATATATGTATATATACGTATGTATATACGTATATATATATG TATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	186	0.0054	231	c.114 others(252): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATACATACGTATATATACATATATA TATACGTATATATATACGTATATATACGTATATATATACATATATATACG TATATATATACGTATATATATACATATATATACATATATATATACGTATA TATATATACATATATATACGTATATAATATATACGTATATATATATACAT ATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(224): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATACATGTATATATACGTATATATATACGTATATATATATG TATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	186	0.0054	231	c.114 others(252): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATGTATA TATATACATATATATACGTATATATACGTATATATATACATATATATACG TATATATATACGTATATATATACATATATATACATATATATATACGTATA TATATATACATATATATACGTATATAATATATACGTATATATATATACAT ATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(224): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATATACGTATATATACGTATATA TATGTATATATATATGTATATATACGTATATATATACGTATATATATATG TATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	186	0.0054	231	c.114 others(252): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATATACATATATATACG TATATATATACGTATATATATACATATATATACATATATATATACGTATA TATATATACATATATATACGTATATAATATATACGTATATATATATACAT ATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(224): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATATACGTATATATATGTATATATATGTATATATACGTATATATA TGTATATATATATGTATATATATACGTATATATATACGTATATATATATG TATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	186	0.0054	231	c.114 others(252): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATATACATATA TATATACATATATATACGTATATATACATATATATACATATATATACGTA TATATATATACGTATATATATACATATATATACATATATATATACGTATA TATATATACATATATATACGTATATAATATATACGTATATATATATACAT ATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(224): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATATACGTATATATATACGTATATATATGTATATATATACG TATATATATACGTATATATATGTATATATATACGTATATATACGTATATA TATGTATATATATATGTATATATACGTATATATATACGTATATATATATG TATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	186	0.0054	231	c.114 others(252): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACGTATATATATACGTATATA TATATATACATATATATACGTATATAATATATACGTATATATATATACAT ATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UGT1A10_chr2_233631448_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	302	0.0033	231	c.856 others(250): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG03209.hp1 HG01516.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0181 a0002c0002t0004g0029 a0002c0002t0004g0181	2	350	0.0057	231	c.-39 others(242): Show c.-3908_-3907insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3822		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	332	0.0030	231	c.867 others(248): Show c.867+5533_867+5534insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	330	0.0030	231	c.867 others(250): Show c.867+11362_867+11363insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	332	0.0030	231	c.861 others(250): Show c.861+31355_861+31356insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0029 a0004c0005t0002g0029	1	320	0.0031	231	c.856 others(250): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725219	G G	GGGAGAGG others(224): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	318	0.0031	231	c.856 others(250): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX_chrX_7838171_7849143	7844201	T T	TGGTGTGA others(224): Show TGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	341	0.0029	231	c.18 others(240): Show c.185_*186insGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		59		chrX	TogoVar
VCX_chrX_7838171_7849143	7844213	A A	AGGGAGGG others(224): Show AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0046 a0046	a0046c0055 a0046c0055	a0046c0055t0002 a0046c0055t0002	a0046c0055t0002g0001 a0046c0055t0002g0001	1	341	0.0029	231	c.19 others(240): Show c.197_*198insGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		71		chrX	TogoVar
VPS53_chr17_503668_719839	509873	A A	ACCCCTCA others(224): Show ACCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACA TATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCG CCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACAT ATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGC CCCTCACCAGTCACATATCAAATCCTGGCTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0143 a0001c0001t0121g0143	1	232	0.0043	231	c.90 others(242): Show c.9024_*9254dupCGAGCCAGGATTTGATATGTGACTGGTGAGGGGC GAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATAT GTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG AGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATG TGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	9254		chr17	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(224): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	274	0.0037	231	c.200 others(248): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895634	C C	CTCCTCCT others(224): Show CTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCCCCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0018 a0004c0003t0001g0018	1	274	0.0037	231	c.200 others(248): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCT CCCCCCCCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCT CCT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47			chr3	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(224): Show ATATATAATATATATATATAATATATATATATATTATATATATATATAAT ATATATATATATTATATATATATATAATATATATATTATATATATATTAT ATATATATAATATATATTATATATATATAATATATATATAATATATATAT ATTATATATATAATATATATATTATATATATATAATATATATATATATTA TATATATTATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	330	0.0030	231	c.38 others(242): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATAATAT ATATATATTATATATATATTATATATATATAATATATATTATATATATAT AATATATATATAATATATATATTATATATATATATAATATATATATATAT TATATATATATATAATATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(224): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATATTATATATAATATTTATATATTATATATAATAT ATATATTATATATAATATTTATATATTATATATAATATATATATTATATA TAATATTTATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	330	0.0030	231	c.69+ others(248): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATATTATATATAATATTTATATATTATATATAA TATATATATTATATATAATATTTATATATTATATATAATATATATATTAT ATATAATATTTATATATTATATATAATATTTATATATTATATATAATATT TAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(224): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	228	0.0044	231	c.103 others(250): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTC CCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTA CCCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTC CCCTCCCCTCTCCTCCTCTCCCCCCTCCTCCCCTCTCCTCCCCTCCCCTC CCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGG others(224): Show GGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAG GGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAG GAGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAG GGGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAG AGGAGGAGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	228	0.0044	231	c.103 others(250): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCT CCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCTCTCCCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTACCCTCTCCTCCTCTAC CCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCTCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF511_chr10_133303914_133318161	133317946	A A	ACCCCCCC others(224): Show ACCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACAC AGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACA CCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCAGACACAG AGATGGAAAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACCACA CACCCCCAGACACAGAGATGGAAAGACCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	282	0.0071	231	c.50 others(242): Show c.5080_*5081insCCCCCCCCCAGACACAGAGATGGAAAGACCACAC ACCCCGCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACAC CCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCAGACACAGA GATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACAC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4786		chr10	TogoVar

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