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
SRP68_chr17_76033785_76077517	76062684	A A	AATATATA others(205): Show AATATATAATATACATTATATATTATATAATATACATTATATATTATATA ATATACATTATATATTATATAATATATAATATACATTATATATTATATAA TATATAATATACATTATATATTATATAATATATAATATACATTATATATT ATATAATATATAATATACATTATATATTATATAATATATAATATACATTA TATATTATATAAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18969.hp1 NA18959.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0116 a0001c0001t0006g0044 a0001c0001t0006g0116	2	365	0.0055	212	c.562 others(229): Show c.562-1111_562-1110insATTATATAATATATAATGTATATTATAT ATTATATAATATATAATGTATATTATATATTATATAATATATAATGTATA TTATATATTATATAATATATAATGTATATTATATATTATATAATATATAA TGTATATTATATATTATATAATATATAATGTATATTATATAATATATAAT GTATATTATATAATATATAATGTATATTATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062684	A A	AATATATA others(205): Show AATATATAATATACATTATATATTATATAATATACATTATATATTATATA ATATATAATATACATTATATATTATATAATATACATTATATATTATATAA TATATAATATACATTATATATCATATAATATATAATATACATTATATATT ATATAATATATAATATACATTATATATTATATAATATATAATATACATTA TATATTATATAAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 NA18906.hp2 HG02965.hp2 HG02976.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163	3	365	0.0082	212	c.562 others(229): Show c.562-1111_562-1110insATTATATAATATATAATGTATATTATAT ATTATATAATATATAATGTATATTATATATTATATAATATATAATGTATA TTATATATTATATGATATATAATGTATATTATATATTATATAATATATAA TGTATATTATATAATATATAATGTATATTATATATTATATAATATATAAT GTATATTATATAATATATAATGTATATTATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(205): Show TGTATATATATGTATATATGTGTATATGTGTGTATATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATG TGCATATATACGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	188	0.0053	212	c.152 others(231): Show c.152-68383_152-68382insGTATATATATGTATATATGTGTATAT GTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGAGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(205): Show TGTATATATATGTATATATGTGTATATGTGTGTATATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01943.hp1 HG02273.hp1 others(3): Show HG00673.hp2 HG01943.hp1 HG02273.hp1 HG02300.hp2 NA18999.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0041	6	188	0.0319	212	c.152 others(231): Show c.152-68383_152-68382insGTATATATATGTATATATGTGTATAT GTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STMN3_chr20_63634712_63658424	63641853	C C	CGCCCAGT others(205): Show CGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCG CCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCG AGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGCCCCCTGCTAGCCC TGTCCCCGCCCCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19043.hp1 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0041 a0001c0001t0017 a0001c0001t0041	a0001c0001t0017g0054 a0001c0001t0041g0056 a0001c0001t0017g0054 a0001c0001t0041g0056	2	388	0.0052	212	c.483 others(227): Show c.483+254_483+255insCGGGGCGGGGACAGGGCTAGCAGGGGGCGG GGCACTGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCC GGGGAGGGGGCAGGGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGG GCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGG GCTAGCAGCAGGCAGGGGGCGGGGCACTGGGC	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
TAF13_chr1_109059140_109081003	109071965	T T	TATATATA others(205): Show TATATATATATATATATATATATACACACATATATATATATACACACACA TATATATATATATATACACACACATATATATATATATACACATATATATA TATACATATATATATATATACACATATATATATATATACACATATATATA TATATACACATATATATATATACACATATATATATATATACACATATATA TATATACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0058 a0001c0001t0009g0058	1	414	0.0024	212	c.106 others(229): Show c.106+3021_106+3022insGTGTGTGTATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATATATGTATATATATATATGTGTAT ATATATATATATGTGTGTGTATATATATATATATATGTGTGTGTATATAT ATATATGTGTGTATATATATATATATATATATAT	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397807	A A	AGAAGGGG others(205): Show AGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAA GGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGG GGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTA GAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTG GAGGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03654.hp2 HG02055.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0057 a0001c0001 a0001c0057	a0001c0001t0001 a0001c0057t0001 a0001c0001t0001 a0001c0057t0001	a0001c0001t0001g0092 a0001c0057t0001g0108 a0001c0001t0001g0092 a0001c0057t0001g0108	2	274	0.0073	212	c.424 others(229): Show c.4243+574_4243+575insCCCTCCTCCCCTCCACCTCCTCCCCCTC TTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCC CTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCC CCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCT CCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(205): Show TCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTC CCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCAC TCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCC ACTCCCCCCCACTCCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCC ACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0161 a0001c0001t0010g0161	1	280	0.0036	212	c.53 others(223): Show c.5354_*5355insGAGTGGGGGGAGTGGGGGGGAGTGGGGGGAGTGG GGGGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGG GGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGG GGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGG AGTGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(205): Show TCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCC CCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCACTCC CCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCCCC CCACTCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCA CTCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	280	0.0036	212	c.53 others(223): Show c.5354_*5355insGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTG GGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGAGTGG GGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGT GGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGA GTGGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TCN2_chr22_30602174_30632271	30623973	T T	TATGTATA others(205): Show TATGTATACATATATACACACACATATGTATACATATATACACACACATA TATGTATACATATATACACACACATATATGTATACATATATACACACACA TATGTATACATATACACACACATATGTATACATATACACACACATATGTA TACATATACACACACATATGTATACATATATACACACACATATGTATACA TATATACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0219 a0003c0003t0004g0219	1	466	0.0022	212	c.122 others(229): Show c.1222+892_1222+893insGTATACATATATACACACACATATGTAT ACATATATACACACACATATATGTATACATATATACACACACATATATGT ATACATATATACACACACATATGTATACATATACACACACATATGTATAC ATATACACACACATATGTATACATATACACACACATATGTATACATATAT ACACACACATATGTATACATATATACACACACAT	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272987	A A	AACCGCCA others(205): Show AACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	392	0.0026	212	c.228 others(229): Show c.2287-708_2287-707insCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273461	T T	TCACCATC others(205): Show TCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACAT CAGACCCCACGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0001 a0003c0029t0001	a0003c0029t0001g0177 a0003c0029t0001g0177	1	392	0.0026	212	c.228 others(231): Show c.2287-1182_2287-1181insGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376694	G G	GCCCCCAC others(205): Show GCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTG TCCCACTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0110 a0001c0001t0011g0110	1	370	0.0027	212	c.-72 others(221): Show c.-725_-724insGCACAGAGTGGGACAGGCTGGGTGGGGTACAGAGGG GGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGC ACGGGGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		669		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCCACC others(205): Show CCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	370	0.0027	212	c.-15 others(223): Show c.-1506_-1505insCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(205): Show GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	370	0.0027	212	c.-15 others(223): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196334825	G G	GTGCCCTG others(205): Show GTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGG TGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAA GGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGA GAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAG GAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	370	0.0027	212	c.-2+ others(227): Show c.-2+3438_-2+3439insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334888	G G	GGGAAGGG others(205): Show GGGAAGGGGTGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCCCT GGGAGGGTGGGTGTAGGAGAGGGAAGGGGTGCCCTGAGAAGGTGGGGGTT GGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGAT GCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCCCTGGGAGGGTG GGGGTAGGAGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	370	0.0027	212	c.-2+ others(227): Show c.-2+3375_-2+3376insTCTCTCCTACCCCCACCCTCCCAGGGCACC CCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTA CACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAG GGCACCCCTTCCCTCTCCTACACCCACCCTCCCAGGGCACCCCTCCCCTC TCCAACCCCCACCTTCTCAGGGCACCCCTTCC	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334895	G G	GATGCCCT others(205): Show GATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGG TGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAA GGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTG AGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAG GAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	370	0.0027	212	c.-2+ others(227): Show c.-2+3368_-2+3369insTCCCTTCCCTCTCCTACACCCACCCTCCCA GAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCC TCCCCTCTCCAACCCCCACCTTCTCAGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GTGCCCTG others(205): Show GTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGG TGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAA GGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGA GAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAG GAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG00741.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0105 a0002c0002t0001g0077 a0002c0002t0001g0105	2	370	0.0054	212	c.-2+ others(227): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(205): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAG GGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGA GGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	370	0.0027	212	c.-2+ others(227): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTC CCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACC CACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(205): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCAGAGAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0433 a0001c0001t0001g0433	1	444	0.0023	212	c.227 others(231): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTCTCTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(205): Show TTTATTTTATTTTATTTTAGTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTA TTTTATTTTTTATTTTATTTTATTTTATTTTTTATTTTATTTTATTTTAT TTTATTTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	110	0.0091	212	c.410 others(231): Show c.410+82857_410+82858insTTTTAGTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATT TTATATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTTTATTTTAT TTTATTTTATTTTATTTTATTTTTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(205): Show TTTATTTTATTTTATTTTATTTTAGTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATA TTTTATTTTATTTTTTATTTTATTTTATTTTATTTTTTATTTTATTTTAT TTTATTTTATTTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	110	0.0091	212	c.410 others(231): Show c.410+82857_410+82858insTTTTATTTTAGTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATT TTATTTTATATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTTTAT TTTATTTTATTTTATTTTATTTTATTTTTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747511	G G	GCACTGGG others(205): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	314	0.0032	212	c.189 others(227): Show c.189-814_189-813insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(205): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	314	0.0032	212	c.189 others(227): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088222	C C	CGGGGCGT others(205): Show CGGGGCGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATG ACCGGGGCGTCCTCCATGACCGGGGCGTCCTCTATGACCGGGGCGTCCTC CATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCC TCCCTGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTG TCCTCCCTGACCG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA20752.hp2 HG03834.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0078 a0001c0001t0002g0039 a0001c0001t0002g0078	2	94	0.0213	212	c.144 others(231): Show c.1444-3521_1444-3520insCGGTCAGGGAGGACACCCCGGTCAGG GAGGACACCCGGTCATGGAGGACACCCCGGTCAGGGAGGACACCCCGGTC AGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACGCCCCGG TCATAGAGGACGCCCCGGTCATGGAGGACGCCCCGGTCATGGAGGACACC CGGTCATGGAGGACACCCGGTCATGGAGGACGCCCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM18_chr2_658877_682406	671353	C C	CCCTCCTG others(205): Show CCCTCCTGGGACTGAACCATGTGAAGGCGCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	442	0.0023	212	c.233 others(229): Show c.233+1454_233+1455insACCCTGCCTCTCCTCCCGGATGCAGGGC CTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAG GGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATG CAGGGCCTTCACATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGG ATGCAGCGCCTTCACATGGTTCAGTCCCAGGAGG	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671445	G G	GAGGAGAG others(205): Show GAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGGCCCTGCATC CGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGGCCCTGC ATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGGCCC TGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGG CCCTGCATCCGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	442	0.0023	212	c.233 others(229): Show c.233+1362_233+1363insTCCGGATGCAGGGCCTTCACGTGGTTCA GTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACGTGGT TCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACGT GGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCA CGTGGTTCAGTCCCAGGAGGACCCTGCCTCTCCT	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671445	G G	GAGGAGAG others(205): Show GAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATC CGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGGCCCTGC ATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGGCCC TGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGG CCCTGCATCCGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19005.hp1 HG01496.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0112 a0001c0001t0015g0111 a0001c0001t0001g0112 a0001c0001t0015g0111	2	442	0.0045	212	c.233 others(229): Show c.233+1362_233+1363insTCCGGATGCAGGGCCTTCACGTGGTTCA GTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACGTGGT TCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACGT GGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCA CATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCT	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671445	G G	GAGGAGAG others(205): Show GAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATC CGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGC ATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGGCCC TGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCACGTGAAGG CCCTGCATCCGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(13): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00639.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01433.hp2 HG02155.hp1 HG02257.hp1 HG03041.hp2 NA18954.hp2 NA18963.hp1 NA18992.hp2 NA18999.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0020 a0001c0001t0036	a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0015g0082 a0001c0001t0015g0110 a0001c0001t0020g0039 a0001c0001t0036g0109	16	442	0.0362	212	c.233 others(229): Show c.233+1362_233+1363insTCCGGATGCAGGGCCTTCACGTGGTTCA GTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACGTGGT TCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACAT GGTTCAGTCCCAGGAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCA CATGGTTCAGTCCCAGGAGGACCCTGCCTCTCCT	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671478	T T	TGTGAAGG others(205): Show TGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACT GAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGG ACTGAACCACGTGAAGGCCCTGCATCCGGAAGGAGAGGCAGGGTCCTCCT GGGACTGAACCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG00621.hp1 HG03491.hp2 HG03492.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	442	0.0091	212	c.233 others(229): Show c.233+1329_233+1330insGTGGTTCAGTCCCAGGAGGACCCTGCCT CTCCTTCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACCCTG CCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGGACC CTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGG ACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCAC	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671531	T T	TGTGAAGG others(205): Show TGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACT GAACCACGTGAAGGCCCTGCATCCGGAAGGAGAGGCAGGGTCCTCCTGGG ACTGAACCACGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCT GGGACTGAACCAC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	442	0.0023	212	c.233 others(229): Show c.233+1276_233+1277insGTGGTTCAGTCCCAGGAGGACCCTGCCT CTCCTCCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACCCTG CCTCTCCTTCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACC CTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGG ACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCAC	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671531	T T	TGTGAAGG others(205): Show TGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACT GAACCACGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGG ACTGAACCACGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCT GGGACTGAACCAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	442	0.0023	212	c.233 others(229): Show c.233+1276_233+1277insGTGGTTCAGTCCCAGGAGGACCCTGCCT CTCCTCCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACCCTG CCTCTCCTCCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACC CTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAGG ACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCAC	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671858	C C	CCTGCATC others(205): Show CCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAA GGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGT GAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCA TGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(104): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG02523.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0026 a0001c0001t0031 a0001c0001t0042 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0014g0025 a0001c0001t0014g0078 a0001c0001t0018g0026 a0001c0001t0026g0042 a0001c0001t0031g0094 a0001c0001t0042g0100 a0001c0001t0044g0089 a0001c0001t0054g0095 a0001c0001t0055g0141	107	442	0.2421	212	c.233 others(227): Show c.233+949_233+950insCGCCTTCACATGGTTCAGTCCCAGGAGGAC CCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAG GACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAG GAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCC CAGGAGGACCCTGCCTCTCCTCCCGGATGCAG	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM18_chr2_658877_682406	671858	C C	CCTGCATC others(205): Show CCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAA GGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGT GAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCA TGTGAAGGCCCTGCATCTGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	442	0.0023	212	c.233 others(227): Show c.233+949_233+950insCGCCTTCACATGGTTCAGTCCCAGGAGGAC CCTGCCTCTCCTCCCAGATGCAGGGCCTTCACATGGTTCAGTCCCAGGAG GACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAG GAGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCC CAGGAGGACCCTGCCTCTCCTCCCGGATGCAG	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMPRSS2_chr21_41459305_41513158	41474967	G G	GAAGGGAT others(205): Show GAAGGGATGAATGAGGGGGTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGA GTGAGGAGGTGAAGGGTGAGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGG ATTAGTGAGGGGGTGAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGT GGATGAAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTGAGTAGG GGGTGAGTGAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	382	0.0026	212	c.728 others(229): Show c.728-1472_728-1471insTCCTCACTCACCCCCTACTCAACCCCTC ATTCACCCCTCACCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCT CACCTCCTCACTCAACCCCTCACCCCCTCACTAATCCCTCACTCCCTCAC CCCCTCACGCCCTCACTCACCCTTCACCTCCTCACTCACCCCCTCACCCC CTCAACCCCTTACTTACCCCCTCATTCATCCCTT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2418444	C C	CCTCCCTT others(205): Show CCTCCCTTTCCTTCCCTTCCCTCCCTACCTTTCCTTTCCTTCCCTCCCTC CCTTTCCTTCCCTGCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTT CCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTC CCTCCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTC CCTCCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0003 a0020c0032t0003	a0020c0032t0003g0105 a0020c0032t0003g0105	1	114	0.0088	212	c.215 others(229): Show c.2154+307_2154+308insTCCCTTTCCTTCCCTTCCCTCCCTACCT TTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCT CCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTTCCCTCCCT CCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930695	T T	TGGGGTTA others(205): Show TGGGGTTAGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	466	0.0043	212	c.48 others(223): Show c.4895_*4896insGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCTTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4674		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780627	A A	ATATATTA others(205): Show ATATATTATATTATATAGTATATAATATATATTATATTATATAGTATATA ATATATATTATATTATATAGTATATAATATATATTATATTATATAGTATA TAATATATATTATATTATATAGTATATAATATATATTATATTATATAGTA TATAATATATATTATATTATATAGTATATAATATATATTATATTATATAG TATATAATATTAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	118	0.0085	212	c.44- others(229): Show c.44-14677_44-14676insCTAATATTATATACTATATAATATAATA TATATTATATACTATATAATATAATATATATTATATACTATATAATATAA TATATATTATATACTATATAATATAATATATATTATATACTATATAATAT AATATATATTATATACTATATAATATAATATATATTATATACTATATAAT ATAATATATATTATATACTATATAATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(205): Show TTATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	212	c.28 others(223): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRPC5_chrX_111763011_112087776	111842132	G G	GTATATAT others(205): Show GTATATATATATATTTTATATATATATGTATATATATATATTTTATATAT ATATGTATATATATATATTTTATATATATATATATTATATATATATATAT TATATATATATATTATATATATATAATATATATATATTATATATATATAT ATTATATATATATATTATATATATATATTATATATATATATATTTTATAT ATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0004 a0001c0001t0017g0004	1	161	0.0062	212	c.170 others(231): Show c.1700+4981_1700+4982insTATATATATATATATATAAAATATAT ATATATATAATATATATATATAATATATATATATAATATATATATATATA ATATATATATATTATATATATATAATATATATATATAATATATATATATA TAATATATATATATATAAAATATATATATATACATATATATATAAAATAT ATATATATACATATATATATAAAATATATATATATA	TRPC5	ENSG00000072315.4	transcript	ENST00000262839.3	protein_coding	6/10			chrX	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TAGTATAT others(205): Show TAGTATATATGTAATATATATATACTATATATAGTATATATGTAATATAT ATATACTATATATAGTATATATGTAATATATATATACTATATATATAGTA TATATGTAATATATATATACTATATATAGTATATATGTAATATATATACT ATATATATAGTATATATGTAATATATATACTATATATATAGTATATATGT AATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0018 a0001c0022t0018	a0001c0022t0018g0181 a0001c0022t0018g0181	1	188	0.0053	212	c.458 others(231): Show c.4582-1232_4582-1231insAGTATATATGTAATATATATATACTA TATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAAT ATATATATACTATATATATAGTATATATGTAATATATATATACTATATAT AGTATATATGTAATATATATACTATATATATAGTATATATGTAATATATA TACTATATATATAGTATATATGTAATATATATATAC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64			chr2	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(205): Show TTATATATAGTATATATGTAATATATATACTATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAATA TATATACTATATATAGTATATATGTAATATATACTATATATAGTATATAT GTAATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp2 HG03225.hp1 HG02965.hp1 HG03209.hp2 HG03225.hp1	a0001 a0014 a0001 a0014	a0001c0007 a0001c0026 a0014c0028 a0001c0007 a0001c0026 a0014c0028	a0001c0007t0001 a0001c0026t0006 a0014c0028t0008 a0001c0007t0001 a0001c0026t0006 a0014c0028t0008	a0001c0007t0001g0035 a0001c0026t0006g0034 a0014c0028t0008g0037 a0001c0007t0001g0035 a0001c0026t0006g0034 a0014c0028t0008g0037	3	188	0.0160	212	c.458 others(231): Show c.4582-1204_4582-1203insCTATATATACTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAAT ATATATACTATATATAGTATATATGTAATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(205): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAATA TATATACTATATATAGTATATATGTAATATATACTATATATAGTATATAT GTAATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01243.hp1 others(7): Show HG01069.hp1 HG01069.hp2 HG01243.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02970.hp1 HG03516.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0002c0018 others(1): Show a0001c0001 a0002c0011 a0002c0018 a0002c0055	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0002c0011t0001 a0002c0018t0001 a0002c0055t0001	a0001c0001t0002g0130 a0001c0001t0005g0149 a0001c0001t0010g0147 others(7): Show a0001c0001t0002g0130 a0001c0001t0005g0149 a0001c0001t0010g0147 a0001c0001t0010g0148 a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 a0002c0018t0001g0005 a0002c0018t0001g0006 a0002c0055t0001g0009	10	188	0.0532	212	c.458 others(231): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAAT ATATATACTATATATAGTATATATGTAATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169496	T T	TCCTCCCT others(205): Show TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCT TCCTCCCTCCCTCCCTCCCCACACACCTCCTCTCCCTCCCTCCCCACACA CCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	115	0.0087	212	c.53 others(221): Show c.535_*536insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		447		chrX	TogoVar
VCX_chrX_7838171_7849143	7844176	A A	AGGGAGGG others(205): Show AGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	341	0.0029	212	c.16 others(221): Show c.160_*161insGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGGGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		34		chrX	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(205): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 NA18984.hp1 NA19056.hp1 HG03942.hp1 NA18984.hp1 NA19056.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0007c0007t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 a0007c0007t0001g0001	3	341	0.0088	212	c.35 others(221): Show c.354_*355insGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(205): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	408	0.0025	212	c.53+ others(227): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(205): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19010.hp1 HG02602.hp2 NA19010.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0020 a0001c0002 a0013c0020	a0001c0002t0001 a0013c0020t0001 a0001c0002t0001 a0013c0020t0001	a0001c0002t0001g0067 a0013c0020t0001g0068 a0001c0002t0001g0067 a0013c0020t0001g0068	2	408	0.0049	212	c.53+ others(227): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842874	A A	ATAGATGT others(205): Show ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	408	0.0025	212	c.53+ others(227): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGGTAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar

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