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
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(200): Show GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTATAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0058 a0001c0002t0018g0058	1	128	0.0078	207	c.427 others(226): Show c.4270-2470_4270-2469insGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024535	A A	ACAGGAAT others(200): Show ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0135 a0001c0004t0007g0135	1	95	0.0105	207	c.427 others(226): Show c.4270-2428_4270-2427insCAGGATTTCACATATCCCTATTCTCA GGCAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCCTTACAGGATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGG GATATGTGAGCTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024580	A A	AATTTCAC others(200): Show AATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCC CTTACAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	94	0.0106	207	c.427 others(226): Show c.4270-2401_4270-2400insACAGGAATAGGGATATGTGAACTATG ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(200): Show ATATATAATATATATATTATATATATATATATTATATATATATATAATAT ATATATTATATATATATATATTATATATATATAATATATATTATATATAT ATTATATATATATAATATATATATATTATATATATATAATATATATATTA TATATATATAATATATATATATATTATATATATAATATATATATAATATA TATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	147	0.0068	207	c.38 others(218): Show c.3884_*3885insATTATATATATATTATATATATATTATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATAATATATATATAATATATATTATATATAT ATAATATATATATATATAATATATATATTATATATATATATAATATATAT ATATATAATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(200): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATTATATATATTATATATATATAATATATATAT AATATATATATAATATATATATAATATATATATTATATATATATTATATA TATAATATATATATATTTTATATATATATTATATATATATATATATAGAG AGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	49	0.0204	207	c.37 others(218): Show c.3793_*3794insCTCTCTCTCTCTATATATATATATATATAATATA TATATAAAATATATATATATTATATATATAATATATATATAATATATATA TTATATATATATTATATATATATTATATATATATTATATATATATAATAT ATATAATATATATATATTATATATATATAATATATATATTATATATATAT AATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(200): Show TATATATATTTTAAAATATATTTATATATTTTTAAATATATATTATATAT ATTTTTAAATATATATTATATATAATATATATTTTAAAATATATTATATA AATATATTTTAAAATATGTATTATATATAAATATATTTTTAAATATATAT TATATATAAATATATTTTTAAATATATTTATATATAATATATATTTAAAT ATATATTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	163	0.0061	207	c.39+ others(222): Show c.39+1335_39+1336insTAATATATATTTAAATATATATTATATATA AATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTAAAATAT ATATTATATATAATATATATTTAAAAATATATATAATATATATTTAAAAA TATATAAATATATTTTAAAATATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZFP42_chr4_187990771_188010046	187992000	G G	GGGGAGAG others(200): Show GGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCG TGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	417	0.0024	207	c.-41 others(218): Show c.-4179_-4178insGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCG TGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAG GGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGACCGTGGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3770		chr4	TogoVar
ZNF253_chr19_19860882_19899674	19891007	A A	ATTTTTTT others(200): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	361	0.0028	207	c.227 others(222): Show c.227-461_227-460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC TACCACGCCCGGCTAATTTTTTTTTTT	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(201): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATATAATATAATTATATATAATATATAATATATAATAT AATTATATAAAATATATAATATATTATATAATTATATATTATATATATTA TTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02615.hp1 HG04204.hp2 others(9): Show HG02135.hp2 HG02615.hp1 HG04204.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18973.hp2 NA18991.hp2 NA19056.hp1 NA19070.hp1 NA19088.hp1 NA20905.hp2	a0001 a0004 a0025 others(1): Show a0001 a0004 a0025 a0028	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0004c0007 a0025c0036 a0028c0037	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0004c0007t0001 a0025c0036t0001 a0028c0037t0001	a0001c0001t0001g0159 a0001c0001t0001g0197 a0001c0001t0001g0199 others(9): Show a0001c0001t0001g0159 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0002t0001g0219 a0001c0004t0001g0245 a0004c0007t0001g0162 a0025c0036t0001g0157 a0028c0037t0001g0158	12	146	0.0822	208	c.-35 others(219): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(201): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATGATATATAATATAATTATATATGATATATAATATAATTATAT ATAATATATAATATATAATATAATTATATATAATATATAATATATAATAT AATTATATAAAATATATAATATATTATATAATTATATATTATATATATTA TTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA19004.hp2 NA18978.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0235 a0001c0001t0001g0200 a0001c0001t0001g0235	2	136	0.0147	208	c.-35 others(219): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATCATATA TAATTATATTATATATCATATATAATTATATTATATATTATATATAATTA TATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(201): Show ATATAATTATATATTATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATATAATATAATTATATATAATATATAATATATAATAT AATTATATAAAATATATAATATATTATATAATTATATATTATATATATTA TTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0026 a0026	a0026c0018 a0026c0018	a0026c0018t0001 a0026c0018t0001	a0026c0018t0001g0234 a0026c0018t0001g0234	1	135	0.0074	208	c.-35 others(219): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TATTATATATAATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288793	C C	CCGTGTCT others(201): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	261	0.0038	208	c.47 others(219): Show c.4770_*4771insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(201): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	273	0.0037	208	c.41 others(219): Show c.4168_*4169insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289973	T T	TCCCTGCT others(201): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	285	0.0035	208	c.35 others(219): Show c.3590_*3591insGGACACGGGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGG GGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAG ACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2417		chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736017	G G	GGCGGGGG others(201): Show GGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGG GGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTT CTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGAGCGG GGCAGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01109.hp2 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0003t0004g0179 a0001c0003t0004g0180	2	306	0.0065	208	c.65 others(219): Show c.6585_*6586insGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGG GGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGG GGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTT CTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GGGTTCTGGGAGCGGGGCAGGTCA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4429		chr19	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(201): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACCCCCTC CGAGACCAAAGGCTGACACCCCCGAGACCAAAGGCTGACCCCCCCGCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCTCCCCGCGAGACC AAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0261 a0002c0005t0003g0261	1	200	0.0050	208	c.535 others(225): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGAGGTCAG CCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCT TTGGTCTCGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGT CTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTC GGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATGAAATA others(201): Show ATGAAATATATATAATACATTATATATATGAAATATATATAATACATTAT ATATATGAAATATATATAATACATTATATATATGAAATATATATAATACA TTATATATATGAAATATATATAATACATTATATATATGAAATATATATAA TACATTATATATATGAAATATATATAATACATTATATATATGAAATATAT ATAATACAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19012.hp2 HG03927.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0134 a0001c0001t0001g0071 a0001c0001t0001g0134	2	115	0.0174	208	c.193 others(227): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATAT AATGTATTATATATATTTCATATATATAATGTATTATATATATTTCATAT ATATAATGTATTATATATATTTCATATATATAATGTATTATATATATTTC ATATATATAATGTATTATATATATTTCATATATATAATGTATTATATATA TTTCATATATATAATGTATTATATATATTTCA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADGRB1_chr8_142444649_142550007	142501712	A A	ATGGTGAT others(201): Show ATGGTGATGTGGTGGTGGTGGTGATGGTGGTGGCGGTGATGGCGATGGTG GGGTGGTGGTAGTGATGACTGTGTGGTTTTGACGATGGAGGTGGGGTGGT GGTGGTGATGGTGATGTGGTGGTGGTGGTGATGGTGGTGGCGGTGATGGC GATGGTGGGGTGGTGGTAGTGATGACTGTGTGGTTTTGACGATGGAGGTG GGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02273.hp2 HG00609.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0154 a0001c0002t0002g0170 a0001c0001t0001g0154 a0001c0002t0002g0170	2	299	0.0067	208	c.267 others(227): Show c.2676-9214_2676-9213insTGTGGTGGTGGTGGTGATGGTGGTGG CGGTGATGGCGATGGTGGGGTGGTGGTAGTGATGACTGTGTGGTTTTGAC GATGGAGGTGGGGTGGTGGTGGTGATGGTGATGTGGTGGTGGTGGTGATG GTGGTGGCGGTGATGGCGATGGTGGGGTGGTGGTAGTGATGACTGTGTGG TTTTGACGATGGAGGTGGGGTGGTGGTGGTGA	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(201): Show TACACATATGTGTATATGTATATATACACACATATATACACATATGTGTA TATGTATATATACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACACATATACACATATGTGTATATGTATATGTACA CACATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0016 a0001c0002t0059g0016	1	78	0.0128	208	c.48- others(225): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACACA TATATACACATATGTGTATATGTATATATACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACACATATACACATATG TGTATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(201): Show TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	142	0.0070	208	c.48- others(225): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(201): Show AATATATATACATATATAAATATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TATACATATATAAATATATATACATATATAAATATATATATACATATATA AATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18955.hp2 NA18983.hp2 others(2): Show HG02698.hp1 NA18955.hp2 NA18983.hp2 NA19058.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0049 a0001c0001t0002 a0001c0001t0025 a0001c0001t0049	a0001c0001t0002g0138 a0001c0001t0002g0303 a0001c0001t0002g0372 others(2): Show a0001c0001t0002g0138 a0001c0001t0002g0303 a0001c0001t0002g0372 a0001c0001t0025g0151 a0001c0001t0049g0150	5	196	0.0255	208	c.151 others(225): Show c.151+5564_151+5565insATTTATATATGTATATATATATTTATAT ATGTATATATATTTATATATGTATATATATTTATATATGTATATATATAT TTATATATGTATATATATTTATATATGTATATATATATTTATATATGTAT ATATATTTATATATGTATATATATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735390	A A	AATATATA others(201): Show AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATATACATATATAAATATATATATACATATATAAATATATATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	446	0.0022	208	c.151 others(225): Show c.151+5546_151+5547insATTTATATATGTATATATATATTTATAT ATGTATATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATTTATATATGTATATATATTTATATATGTATATATATTTATATAT GTATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(201): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGG GAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGAG AGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGGG GAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03209.hp2 others(1): Show HG02717.hp1 HG02818.hp2 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0322 a0001c0002t0012g0325 a0001c0002t0012g0327 others(1): Show a0001c0002t0012g0322 a0001c0002t0012g0325 a0001c0002t0012g0327 a0001c0002t0012g0329	4	39	0.1026	208	c.667 others(223): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCT CCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(201): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGG GAGGGGGGGAAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGAG AGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGGG GAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0324 a0001c0002t0012g0324	1	36	0.0278	208	c.667 others(223): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTTCCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCT CCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANAPC2_chr9_137169784_137193560	137176089	T T	TTGGAAAT others(201): Show TTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTAACTGAG GTGTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTAACTG AGGTGTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTAAC TGAGGTGTGGAAATGTGGCCATATTTGCAAACAGGGTTGATGCAGATGTA ACTGAGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0014 a0001c0002 a0003c0014	a0001c0002t0001 a0003c0014t0001 a0001c0002t0001 a0003c0014t0001	a0001c0002t0001g0163 a0003c0014t0001g0151 a0001c0002t0001g0163 a0003c0014t0001g0151	2	390	0.0051	208	c.189 others(225): Show c.1891-253_1891-252insCACCTCAGTTACATCTGCATCAACCCTG TTTGCAAATATGGCCACATTTCCACACCTCAGTTACATCTGCATCAACCC TGTTTGCAAATATGGCCACATTTCCACACCTCAGTTACATCTGCATCAAC CCTGTTTGCAAATATGGCCACATTTCCACACCTCAGTTACATCTGCATCA ACCCTGTTTGCAAATATGGCCACATTTCCA	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	10/12			chr9	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(201): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAA AGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01081.hp2 others(14): Show HG00323.hp1 HG00544.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01516.hp1 HG01891.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02922.hp1 HG02970.hp1 HG03225.hp1 HG03453.hp2 NA18960.hp1 NA19070.hp1 NA20805.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0004c0004t0003 a0003c0003t0003 a0004c0004t0003	a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0045 others(8): Show a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0045 a0003c0003t0003g0051 a0003c0003t0003g0056 a0004c0004t0003g0004 a0004c0004t0003g0016 a0004c0004t0003g0040 a0004c0004t0003g0041 a0004c0004t0003g0052 a0004c0004t0003g0057	17	370	0.0459	208	c.416 others(223): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTT CCTTCCTTTCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
AQP12B_chr2_240671418_240687885	240675100	T T	TGTGTGTG others(201): Show TGTGTGTGTGAAGGGGCTTTCTGGTGGGGAGGAGGGTGTGTGTGTGAAGG GGCAGCTTCGGGGAGGAGGGTGTGTGTGTGAAGGGGCTTTCTGGTGGGGA GGAGGGTGTGTGTGTGAAGGGGCAGCTTCGGGGAGGAGGGTGTGTGTGTG AAGGGGCTTTCTGGCGGGGAGGAGGGTGTGTGTGTGAAGGGGCAGCTTCG GGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0049 a0009c0012t0001g0049	1	178	0.0056	208	c.14 others(219): Show c.1444_*1445insCCTCCTCCCCGAAGCTGCCCCTTCACACACACAC CCTCCTCCCCGCCAGAAAGCCCCTTCACACACACACCCTCCTCCCCGAAG CTGCCCCTTCACACACACACCCTCCTCCCCACCAGAAAGCCCCTTCACAC ACACACCCTCCTCCCCGAAGCTGCCCCTTCACACACACACCCTCCTCCCC ACCAGAAAGCCCCTTCACACACAC	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding		1317		chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCTGC others(201): Show CCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCACACCCCACCT GTTCACCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0060 a0003c0064t0060	a0003c0064t0060g0269 a0003c0064t0060g0269	1	328	0.0030	208	c.-48 others(223): Show c.-48+996_-48+997insTGCACCCCACCTGTTCACCTGCACCCCACC TGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839808	T T	TGTGTGGG others(201): Show TGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGG TGTGGGGACTGTATGGTGTGGGGACTGTATGGTGTGGGGACTGTCTAGTG TGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTG GGCGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGTGGG GACTGTCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00597.hp1 others(20): Show HG00140.hp1 HG00423.hp2 HG00597.hp1 HG01175.hp1 HG01192.hp1 HG03017.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18980.hp2 NA19000.hp1 NA19009.hp2 NA19058.hp1 NA19065.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0003 a0001c0004 a0001c0008 others(15): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0015 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0131 a0001c0140 a0001c0143 a0002c0027 a0002c0061 a0004c0051 a0004c0136 a0006c0113 a0006c0134	a0001c0003t0001 a0001c0004t0004 a0001c0008t0002 others(16): Show a0001c0003t0001 a0001c0004t0004 a0001c0008t0002 a0001c0009t0002 a0001c0009t0004 a0001c0015t0009 a0001c0018t0009 a0001c0020t0009 a0001c0021t0004 a0001c0026t0009 a0001c0131t0004 a0001c0140t0004 a0001c0143t0001 a0002c0027t0004 a0002c0061t0025 a0004c0051t0004 a0004c0136t0009 a0006c0113t0004 a0006c0134t0004	a0001c0003t0001g0030 a0001c0003t0001g0284 a0001c0004t0004g0296 others(20): Show a0001c0003t0001g0030 a0001c0003t0001g0284 a0001c0004t0004g0296 a0001c0008t0002g0036 a0001c0009t0002g0029 a0001c0009t0004g0303 a0001c0009t0004g0326 a0001c0015t0009g0315 a0001c0018t0009g0287 a0001c0018t0009g0292 a0001c0020t0009g0288 a0001c0020t0009g0316 a0001c0021t0004g0312 a0001c0026t0009g0289 a0001c0131t0004g0293 a0001c0140t0004g0294 a0001c0143t0001g0028 a0002c0027t0004g0295 a0002c0061t0025g0286 a0004c0051t0004g0285 a0004c0136t0009g0283 a0006c0113t0004g0300 a0006c0134t0004g0313	23	356	0.0646	208	c.-47 others(225): Show c.-47-3539_-47-3538insGGACTGTCTGGTGTGGGGACTGTCTGGT GTGGGGACTGTCTGGTGTGGGGACTGTATGGTGTGGGGACTGTATGGTGT GGGGACTGTCTAGTGTGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGGCGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGG ACTGTCCGGTGTGGGGACTGTCCGGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCA others(201): Show CAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTCTGGATGGGTA GCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCACTGTTTGTCTGGATGGG TAGCTAGGTGCATCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATG GGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGA TGGGTAGCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0245 a0001c0001t0019g0245	1	236	0.0042	208	c.352 others(227): Show c.3521-1637_3521-1636insATCCTGGAAGGAGGCACACTCTCACA GTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGCGCACTCTCA CTGTTTGTCTGGATGGGTAGCTAGGTGCATCCTGAAAGGAGGTGCACTCT CACTGTTTCTCTGGATGGGTAGCGAGGTGCTCCCTGAAAGGAGGTGCACT CTCACTGTTTCTCTGGATGGGTAGCTAGGTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CCTCCCCC others(201): Show CCTCCCCCCTCCTCCCCCTTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCC TCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	72	0.0139	208	c.102 others(225): Show c.1024+323_1024+324insCCCTCCTCCCCCTTCCCCCTCCCTCCCC CTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCTCC CCCTCCCCCTCTCCCCCCTCCCCCTCTCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049992	G G	GGGGGCAG others(201): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGG AGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	291	0.0034	208	c.47 others(219): Show c.4738_*4739insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCCATGTGTTCCCCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2111		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050091	C C	CACATGGG others(201): Show CACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACA TGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	294	0.0034	208	c.46 others(219): Show c.4639_*4640insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCCATGTG TTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2012		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGGC others(201): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGC AGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA TACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGG GAATACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0285 a0001c0005t0005g0285	1	240	0.0042	208	c.45 others(219): Show c.4552_*4553insCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCCCCCTCTGCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(201): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0118 a0004c0005t0001g0118	1	347	0.0029	208	c.16+ others(223): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758337	A A	ACTCATTC others(201): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	283	0.0035	208	c.655 others(227): Show c.655-22197_655-22196insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758432	T T	TCACCTGC others(201): Show TCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT CATTCCGAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	173	0.0058	208	c.655 others(227): Show c.655-22292_655-22291insGTCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGG AGCAGGTGATCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653349	G G	GTAGTACA others(201): Show GTAGTACATATACATACGTACGTACATACATAGTACATATACATACGTAC GTACATAGTACATATACATACGTACGTACATAGTACATATACATACGTAC GTACATAGTACATATACATACGTACGTACATAGTACATATACATACGTAC GTACATAGTACATATACATACGTACGTACATAGTACATATACATACGTAC GTACATACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0029 a0001c0008t0019g0029	1	234	0.0043	208	c.676 others(225): Show c.676-4094_676-4093insTGTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTATGTACGTACGTATGTATATGTACTA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(201): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	5	0.2000	208	c.39+ others(225): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804305	T T	TCCTCCTT others(201): Show TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGC CCTCCTTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	212	0.0047	208	c.163 others(223): Show c.163-605_163-604insCTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(201): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCATCC ATTCATCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0050 a0001c0001t0005 a0001c0001t0050	a0001c0001t0005g0130 a0001c0001t0050g0252 a0001c0001t0005g0130 a0001c0001t0050g0252	2	184	0.0109	208	c.355 others(227): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGG TGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATG GAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGA TGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	G G	GTCCGCGT others(201): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCC CTCCCACCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 NA19043.hp2 HG02818.hp2 HG02896.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0001 a0001c0006t0011 a0003c0030t0011 a0001c0006t0001 a0001c0006t0011 a0003c0030t0011	a0001c0006t0001g0018 a0001c0006t0011g0028 a0003c0030t0011g0141 a0001c0006t0001g0018 a0001c0006t0011g0028 a0003c0030t0011g0141	3	224	0.0134	208	c.459 others(225): Show c.459+1037_459+1038insGGGTGGGAGGGCGAGCTCAGGAATCCCA CACGCGGACTGCAGAGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGG ACTGCAGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCAG AGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGG GAGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(201): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGG GAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	2	0.5000	208	c.51+ others(221): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCT CCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(201): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGG GAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(24): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG01069.hp2 HG01099.hp1 HG01169.hp2 HG01516.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02148.hp2 HG02723.hp2 HG02896.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18952.hp1 NA18953.hp2 NA18985.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0001c0004 a0003c0010 others(1): Show a0001c0003 a0001c0004 a0003c0010 a0005c0015	a0001c0003t0003 a0001c0004t0003 a0001c0004t0009 others(2): Show a0001c0003t0003 a0001c0004t0003 a0001c0004t0009 a0003c0010t0003 a0005c0015t0003	a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0129 others(23): Show a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0004t0003g0120 a0001c0004t0003g0122 a0001c0004t0003g0124 a0001c0004t0003g0125 a0001c0004t0003g0126 a0001c0004t0003g0127 a0001c0004t0003g0128 a0001c0004t0003g0130 a0001c0004t0003g0131 a0001c0004t0003g0142 a0001c0004t0009g0001 a0003c0010t0003g0199 a0003c0010t0003g0200 a0005c0015t0003g0134	27	28	0.9643	208	c.51+ others(221): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(201): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGG GGGAAGGAGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGG GAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	2	0.5000	208	c.51+ others(221): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCCTCCCCCT CCCTCCCCCTCCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(201): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCT GTTGCGTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(31): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG01256.hp2 HG01361.hp1 HG01891.hp1 HG02027.hp1 HG02135.hp1 HG02273.hp2 HG02451.hp2 HG02630.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 NA18747.hp2 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19063.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0045 a0001c0001t0046 a0001c0003t0001 a0001c0003t0004 a0002c0002t0002 a0002c0002t0032 a0002c0005t0002	a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0140 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0316 a0001c0001t0001g0328 a0001c0001t0003g0138 a0001c0001t0003g0154 a0001c0001t0003g0180 a0001c0001t0003g0199 a0001c0001t0003g0204 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0008g0092 a0001c0001t0009g0089 a0001c0001t0012g0371 a0001c0001t0045g0028 a0001c0001t0046g0022 a0001c0003t0001g0142 a0001c0003t0001g0218 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0263 a0001c0003t0004g0143 a0002c0002t0002g0034 a0002c0002t0002g0130 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0165 a0002c0002t0002g0207 a0002c0002t0002g0305 a0002c0002t0002g0315 a0002c0002t0032g0166 a0002c0005t0002g0322	34	93	0.3656	208	c.131 others(223): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(201): Show TTATATATATTATATATATATTTATATATATATAATATATATATTTTTAT ATATATATATTATATATATATTTATATATATATATTATATATATATTTAT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATTATATATATATTTATATATATATATATTATATATAT ATTTATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	163	0.0061	208	c.-2- others(225): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATATAAATATATATAATATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATAAAAATATATATATTAT ATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BDH1_chr3_197504783_197560968	197517423	T T	TTTCCTGC others(201): Show TTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCCATCAGT CACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCTCATCA GTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCTCAT CAGTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCC ATCAGTCAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0237 a0001c0001t0022g0237	1	313	0.0032	208	c.410 others(225): Show c.410-3008_410-3007insGTGACTGATGGGGGGGTCGGCCTGAAGG GGGATTGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTGAA GGGGGATTGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTG AAGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCC TGAAGGGGGATTGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(201): Show ATATATTTATAATAAATATATAATATATATTTATAATAAATATATATTAT ATATTTATTATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18998.hp2 NA18969.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0223 a0001c0002t0005g0111 a0001c0002t0002g0223 a0001c0002t0005g0111	2	157	0.0127	208	c.426 others(227): Show c.426+35676_426+35677insATAATATATATTTATAATAAATATAT ATTATATATTTATTATAAATATTATATATTATATATTATATTTATAATAA ATATTATATATTATATATTATATTTATAATAAATATTATATATTATATAT TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT TATATATTATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTGTGTGT others(201): Show GTGTGTGTATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATACCCATGGGTATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0002 a0001c0016t0001g0002	2	162	0.0123	208	c.-81 others(227): Show c.-81-13455_-81-13454insGTGTGTATATATACCCATGGGTATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATACCCATGGGTATATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar

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