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
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATGTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp2 HG02451.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0089 a0001c0002t0158 a0001c0001t0089 a0001c0002t0158	a0001c0001t0089g0118 a0001c0002t0158g0014 a0001c0001t0089g0118 a0001c0002t0158g0014	2	9	0.2222	26	c.982 others(41): Show c.982+778_982+779insTATATATACATACACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7969730	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01975.hp2 HG02056.hp1 others(3): Show HG00544.hp2 HG01975.hp2 HG02056.hp1 HG03831.hp2 HG03942.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0053 a0001c0001t0001g0172 a0001c0001t0001g0244 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0172 a0001c0001t0001g0244 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0004t0001g0251	6	12	0.5000	26	c.182 others(45): Show c.1825-2653_1825-2628dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02055.hp2 others(4): Show HG01515.hp2 HG01517.hp1 HG02055.hp2 HG02109.hp1 HG02717.hp2 HG03942.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0003t0007 a0001c0001t0002 a0001c0001t0010 a0001c0003t0007	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0130 others(4): Show a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0130 a0001c0001t0002g0252 a0001c0001t0010g0022 a0001c0001t0010g0303 a0001c0003t0007g0217	7	123	0.0569	26	c.182 others(45): Show c.1825-5998_1825-5973dupCACACACACACACACACACACACACA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABRA_chr8_106754483_106775244	106758499	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	34	0.0294	26	c.25 others(37): Show c.2537_*2538insAAAAAAAAAAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(19): Show TATATATATATATATATACATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0119 a0001c0003t0017g0119	1	173	0.0058	26	c.67 others(37): Show c.6721_*6722insGTATATATGTATATATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0329 a0001c0002t0084g0329	1	173	0.0058	26	c.67 others(37): Show c.6721_*6722insGTGTGTATATATATATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0242 a0001c0001t0031g0242	1	173	0.0058	26	c.67 others(37): Show c.6721_*6722insGTGTATATATATATATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	1078104	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0306 a0001c0002t0005g0306	1	291	0.0034	26	c.700 others(43): Show c.700+1200_700+1225dupACACACACACACACACACACACACAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1159644	C C	CGGTACTC others(19): Show CGGTACTCACACACAGGAGAAGTATGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp2 HG03098.hp1 HG02071.hp1 HG02135.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0023 a0001c0001t0033 a0001c0001t0007 a0001c0001t0023 a0001c0001t0033	a0001c0001t0007g0334 a0001c0001t0023g0034 a0001c0001t0033g0265 a0001c0001t0007g0334 a0001c0001t0023g0034 a0001c0001t0033g0265	3	336	0.0089	26	c.61+ others(43): Show c.61+20022_61+20023insACATACTTCTCCTGTGTGTGAGTACC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1159670	A A	AATGCAGT others(19): Show AATGCAGTACTCACGCACAAGGGAAGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp2 HG03098.hp1 HG02071.hp1 HG02135.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0023 a0001c0001t0033 a0001c0001t0007 a0001c0001t0023 a0001c0001t0033	a0001c0001t0007g0334 a0001c0001t0023g0034 a0001c0001t0033g0265 a0001c0001t0007g0334 a0001c0001t0023g0034 a0001c0001t0033g0265	3	267	0.0112	26	c.61+ others(43): Show c.61+19996_61+19997insACTTCCCTTGTGCGTGAGTACTGCAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB1_chr3_127667952_127685926	127673149	A A	ACGGGCGG others(19): Show ACGGGCGGCTGGGCGGCCGCGGAGAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	438	0.0023	26	c.56+ others(38): Show c.56+75_56+100dupGCTGGGCGGCCGCGGAGAGGCGGGCG	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0170 a0002c0002t0036g0170	1	128	0.0078	26	c.113 others(47): Show c.1136-78696_1136-78695insAAAAAAAAAAAAAAAAAAAAAAAA AA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18747.hp1 NA18954.hp1 others(3): Show HG01257.hp1 NA18747.hp1 NA18954.hp1 NA18983.hp1 NA19065.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009	a0001c0001t0004 a0001c0003t0006 a0002c0002t0004 others(2): Show a0001c0001t0004 a0001c0003t0006 a0002c0002t0004 a0002c0002t0018 a0002c0009t0001	a0001c0001t0004g0031 a0001c0003t0006g0147 a0002c0002t0004g0110 others(3): Show a0001c0001t0004g0031 a0001c0003t0006g0147 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0018g0183 a0002c0009t0001g0052	6	47	0.1277	26	c.113 others(47): Show c.1136-12044_1136-12019dupTTTTTTTTTTTTTTTTTTTTTTTT TT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0005 a0006c0010t0003 a0006c0010t0005	a0006c0010t0003g0162 a0006c0010t0005g0150 a0006c0010t0003g0162 a0006c0010t0005g0150	2	44	0.0455	26	c.292 others(43): Show c.2923-817_2923-792dupCACACACACACACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA1_chr3_38117715_38142127	38139683	C C	CAGTTAGA others(19): Show CAGTTAGAGCCAGTGGGAGCTCAACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	370	0.0027	26	c.-26 others(37): Show c.-2674_-2649dupAAGTTGAGCTCCCACTGGCTCTAACT	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding		2557		chr3	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	170	0.0059	26	c.59 others(37): Show c.5992_*5993insACACACACACACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37173982	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04115.hp2 HG01255.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0244 a0001c0002t0001g0151 a0001c0002t0001g0244	2	243	0.0082	26	c.507 others(45): Show c.5079+5252_5079+5277dupTATATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	99	0.0101	26	c.507 others(45): Show c.5079+5239_5079+5240insAAAAAAAATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268743	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19085.hp1 NA18991.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0181 a0001c0001t0003g0147 a0001c0001t0003g0181	2	240	0.0083	26	c.111 others(45): Show c.1119+1982_1119+2007dupGATATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18970.hp1 NA18980.hp2 HG03209.hp1 NA18970.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0020 a0001c0001t0003 a0001c0004t0020	a0001c0001t0003g0122 a0001c0001t0003g0145 a0001c0004t0020g0026 a0001c0001t0003g0122 a0001c0001t0003g0145 a0001c0004t0020g0026	3	113	0.0265	26	c.339 others(43): Show c.339-6174_339-6173insGTGTGTGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	41	0.0244	26	c.38+ others(43): Show c.38+16086_38+16087insGTGTGTGTGTATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01496.hp1 NA19090.hp1 HG00673.hp1 HG01496.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0185 a0001c0001t0001g0224 a0001c0002t0001g0283 a0001c0001t0001g0185 a0001c0001t0001g0224 a0001c0002t0001g0283	3	196	0.0153	26	c.38+ others(43): Show c.38+15932_38+15957dupTATATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0256 a0001c0010t0001g0256	1	194	0.0052	26	c.38+ others(43): Show c.38+15957_38+15958insTATATATATATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02040.hp1 others(16): Show HG00558.hp2 HG00673.hp2 HG02040.hp1 HG02280.hp2 HG02293.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG03017.hp2 HG04115.hp2 HG04199.hp1 NA18946.hp1 NA18970.hp2 NA18977.hp2 NA19057.hp2 NA19064.hp2 NA19068.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0005	a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0212 others(16): Show a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0252 a0001c0001t0001g0292 a0001c0002t0001g0237 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0250 a0001c0002t0001g0255 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0003t0001g0242 a0001c0004t0005g0268	19	74	0.2568	26	c.38+ others(43): Show c.38+15931_38+15932insGATATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp2 HG02132.hp2 others(6): Show HG02040.hp1 HG02056.hp2 HG02132.hp2 HG03195.hp1 NA18946.hp1 NA18959.hp2 NA18970.hp2 NA18979.hp1 NA19057.hp1	a0001 a0003 a0029 a0001 a0003 a0029	a0001c0089 a0003c0001 a0003c0005 others(1): Show a0001c0089 a0003c0001 a0003c0005 a0029c0080	a0001c0089t0002 a0003c0001t0001 a0003c0001t0004 others(2): Show a0001c0089t0002 a0003c0001t0001 a0003c0001t0004 a0003c0005t0002 a0029c0080t0010	a0001c0089t0002g0163 a0003c0001t0001g0137 a0003c0001t0001g0150 others(6): Show a0001c0089t0002g0163 a0003c0001t0001g0137 a0003c0001t0001g0150 a0003c0001t0001g0154 a0003c0001t0004g0146 a0003c0005t0002g0129 a0003c0005t0002g0240 a0003c0005t0002g0262 a0029c0080t0010g0071	9	100	0.0900	26	c.787 others(41): Show c.787-267_787-242dupATATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0002 a0016c0047t0002	a0016c0047t0002g0175 a0016c0047t0002g0175	1	92	0.0109	26	c.787 others(41): Show c.787-274_787-273insGTATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109209832	C C	CACATACA others(19): Show CACATACACACACGTGTGTATATATGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02572.hp2 others(7): Show HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03516.hp2 NA19240.hp2	a0002 a0008 a0002 a0008	a0002c0006 a0002c0017 a0002c0053 others(2): Show a0002c0006 a0002c0017 a0002c0053 a0008c0015 a0008c0044	a0002c0006t0005 a0002c0017t0024 a0002c0053t0005 others(2): Show a0002c0006t0005 a0002c0017t0024 a0002c0053t0005 a0008c0015t0005 a0008c0044t0025	a0002c0006t0005g0281 a0002c0006t0005g0292 a0002c0017t0024g0044 others(7): Show a0002c0006t0005g0281 a0002c0006t0005g0292 a0002c0017t0024g0044 a0002c0053t0005g0033 a0008c0015t0005g0057 a0008c0015t0005g0167 a0008c0015t0005g0168 a0008c0015t0005g0169 a0008c0015t0005g0172 a0008c0044t0025g0166	10	306	0.0327	26	c.324 others(43): Show c.3249+481_3249+506dupCATACACACACGTGTGTATATATGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19011.hp2 NA19068.hp2 NA18981.hp1 NA19011.hp2 NA19068.hp2	a0003 a0004 a0003 a0004	a0003c0001 a0004c0008 a0003c0001 a0004c0008	a0003c0001t0008 a0004c0008t0001 a0004c0008t0008 a0003c0001t0008 a0004c0008t0001 a0004c0008t0008	a0003c0001t0008g0128 a0004c0008t0001g0218 a0004c0008t0008g0261 a0003c0001t0008g0128 a0004c0008t0001g0218 a0004c0008t0008g0261	3	27	0.1111	26	c.678 others(43): Show c.6787+489_6787+514dupATATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0064 a0003c0005t0002g0064	1	25	0.0400	26	c.678 others(43): Show c.6787+482_6787+483insTTATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	253	0.0040	26	c.536 others(43): Show c.536+1837_536+1838insCTTTCTTTCTTTCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75737327	T T	TATATATA others(19): Show TATATATATATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	349	0.0029	26	c.468 others(43): Show c.468+2456_468+2457insATATATATATATATATATATATATGA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11			chr1	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0252 a0001c0004t0005g0286 a0001c0001t0001g0252 a0001c0004t0005g0286	2	87	0.0230	26	c.945 others(43): Show c.945+3268_945+3269insTTTTTTTTTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02027.hp2 HG02080.hp1 others(12): Show HG01358.hp2 HG02027.hp2 HG02080.hp1 NA18946.hp1 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18999.hp2 NA19009.hp1 NA19057.hp1 NA19079.hp2 NA19087.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0154 a0002c0002t0002g0280 a0002c0002t0002g0308	15	27	0.5556	26	c.73- others(39): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	251	0.0040	26	c.375 others(43): Show c.375+2932_375+2933insAAAAAATATATATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	251	0.0040	26	c.375 others(43): Show c.375+2932_375+2933insAAAAAAAAAAAATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACE2_chrX_15556033_15605960	15601481	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	109	0.0092	26	c.-57 others(35): Show c.-571_-570insAAAAAAAAAAAAAAAAAAAAAAAAAA	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding		522		chrX	TogoVar
ACER3_chr11_76855918_77031797	76933173	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	126	0.0079	26	c.214 others(43): Show c.214+6526_214+6527insATATATATATATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG03041.hp1 HG02622.hp1 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0146 a0001c0003t0147 a0001c0003t0151 a0001c0003t0146 a0001c0003t0147 a0001c0003t0151	a0001c0003t0146g0335 a0001c0003t0147g0014 a0001c0003t0151g0333 a0001c0003t0146g0335 a0001c0003t0147g0014 a0001c0003t0151g0333	3	110	0.0273	26	c.50 others(37): Show c.5084_*5085insATATATATATATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	5085	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	12	0.0833	26	c.226 others(43): Show c.2266-749_2266-724dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA19087.hp1 NA18997.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0292 a0002c0002t0010g0263 a0002c0002t0003g0292 a0002c0002t0010g0263	2	23	0.0870	26	c.118 others(45): Show c.1184-1310_1184-1285dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	143	0.0070	26	c.57+ others(41): Show c.57+1429_57+1454dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(19): Show ATTATTATTATTATTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04184.hp1 HG03710.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0324 a0001c0001t0001g0326	2	263	0.0076	26	c.850 others(45): Show c.850-12093_850-12092insATTATTATTATTATTTTTTTTTTTTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18971.hp2 NA18522.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	2	96	0.0208	26	c.-43 others(37): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54599181	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0245 a0002c0002t0007g0245	1	313	0.0032	26	c.765 others(41): Show c.765-114_765-113insAATATATATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG01884.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0062 a0001c0001t0015g0063 a0001c0001t0006g0062 a0001c0001t0015g0063	2	129	0.0155	26	c.20+ others(39): Show c.20+915_20+916insTCTCTCTCTCTCTCTCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0091 a0001c0002t0017g0091	1	272	0.0037	26	c.20+ others(39): Show c.20+868_20+869insATCTCTCTCTCTCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75967620	A A	ATATATAT others(19): Show ATATATATATACATACATATATATACG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00639.hp2 others(13): Show HG00438.hp2 HG00621.hp1 HG00639.hp2 HG02015.hp2 HG02132.hp1 HG02165.hp2 HG02523.hp1 HG06807.hp1 NA18747.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18968.hp1 NA18980.hp1 NA19002.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0019 a0001c0001t0042 others(2): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0042 a0002c0002t0001 a0002c0002t0064	a0001c0001t0002g0276 a0001c0001t0019g0230 a0001c0001t0042g0198 others(12): Show a0001c0001t0002g0276 a0001c0001t0019g0230 a0001c0001t0042g0198 a0002c0002t0001g0006 a0002c0002t0001g0151 a0002c0002t0001g0167 a0002c0002t0001g0191 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0205 a0002c0002t0001g0241 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0284 a0002c0002t0064g0184	16	341	0.0469	26	c.270 others(43): Show c.270-7271_270-7246dupCGTATATATATGTATGTATATATATA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACP2_chr11_47234302_47253814	47253134	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19080.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0003c0004t0001 a0001c0001t0001 a0001c0001t0007 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0007g0047 a0003c0004t0001g0037	104	263	0.3954	26	c.-43 others(37): Show c.-4346_-4345insACACACACACACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding		4321		chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp2 HG02922.hp1 others(10): Show HG00423.hp1 HG02155.hp2 HG02922.hp1 HG03486.hp1 NA18967.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp2 NA19060.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0002t0003 a0001c0002t0011 a0001c0002t0018 a0001c0002t0023 a0001c0002t0034 a0001c0003t0005	a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0006g0106 others(10): Show a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0006g0106 a0001c0001t0006g0114 a0001c0001t0022g0110 a0001c0002t0003g0108 a0001c0002t0011g0102 a0001c0002t0018g0062 a0001c0002t0023g0068 a0001c0002t0034g0107 a0001c0003t0005g0089 a0001c0003t0005g0104 a0001c0003t0005g0105	13	146	0.0890	26	c.121 others(43): Show c.121-2648_121-2647insACACACACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132348999	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 NA18989.hp2 others(5): Show HG02922.hp1 HG03195.hp1 NA18989.hp2 NA19000.hp1 NA19030.hp1 NA19057.hp1 NA19079.hp2 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0003 a0001c0002t0018 a0001c0003t0005 others(3): Show a0001c0002t0003 a0001c0002t0018 a0001c0003t0005 a0001c0003t0033 a0004c0006t0003 a0004c0006t0011	a0001c0002t0003g0132 a0001c0002t0018g0062 a0001c0003t0005g0089 others(5): Show a0001c0002t0003g0132 a0001c0002t0018g0062 a0001c0003t0005g0089 a0001c0003t0005g0105 a0001c0003t0005g0274 a0001c0003t0033g0064 a0004c0006t0003g0209 a0004c0006t0011g0251	8	266	0.0301	26	c.782 others(41): Show c.782-906_782-905insACACACACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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