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
STX17_chr9_99901654_99979534	99904413	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01981.hp2 HG02970.hp1 others(2): Show HG01099.hp2 HG01981.hp2 HG02970.hp1 NA18906.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0001 a0001c0001t0002g0084 a0001c0001t0003g0036 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0084 a0001c0001t0003g0036 a0001c0001t0003g0132 a0001c0001t0019g0070	5	294	0.0170	18	c.-23 others(29): Show c.-2356_-2355insTTTTTTTTTTTTTTTTTT	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding		2240		chr9	TogoVar
STX18_chr4_4413968_4547048	4527867	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 NA18906.hp1 others(1): Show HG02572.hp1 HG03209.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0008t0002 a0001c0001t0002 a0001c0001t0003 a0001c0008t0002	a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0003g0012 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0003g0012 a0001c0008t0002g0017	4	246	0.0163	18	c.168 others(37): Show c.168+13929_168+13930insATATATATATATATATGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX2_chr12_130784600_130844250	130818170	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0053 a0003c0003t0003g0053	1	380	0.0026	18	c.205 others(35): Show c.205+3518_205+3519insTTTTTTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0312 a0002c0002t0002g0312	1	380	0.0026	18	c.205 others(35): Show c.205+3503_205+3504insATATATATTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0325 a0002c0002t0002g0325	1	380	0.0026	18	c.205 others(35): Show c.205+3503_205+3504insATATATATATTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA20905.hp2 HG01099.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0286 a0002c0002t0002g0288 a0002c0002t0002g0286 a0002c0002t0002g0288	2	380	0.0053	18	c.205 others(35): Show c.205+3503_205+3504insATATATATATATTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA19090.hp1 HG01070.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0327 a0002c0002t0002g0079 a0002c0002t0002g0327	2	380	0.0053	18	c.205 others(35): Show c.205+3503_205+3504insATATATATATATATTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18944.hp2 HG01261.hp1 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0093 a0002c0002t0002g0078 a0002c0002t0002g0093	2	380	0.0053	18	c.205 others(35): Show c.205+3503_205+3504insATATATATATATATATTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG04204.hp1 HG00280.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0085 a0002c0002t0002g0086	2	380	0.0053	18	c.205 others(35): Show c.205+3486_205+3503dupATATATATATATATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX3_chr11_59750376_59810878	59791005	A A	AGACCCAG others(11): Show AGACCCAGCAGGAGGATGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG03041.hp1 others(2): Show HG02145.hp1 HG02486.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0130 a0001c0001t0005g0131 others(1): Show a0001c0001t0005g0024 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132	5	218	0.0229	18	c.357 others(33): Show c.357+440_357+457dupCCCAGCAGGAGGATGCGA	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX8_chr17_9245471_9580820	9253207	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	188	0.0053	18	c.644 others(35): Show c.644-2580_644-2563dupACACACACACACACACAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9339070	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0110 a0001c0004t0001g0091 a0001c0001t0001g0110 a0001c0004t0001g0091	2	188	0.0106	18	c.643 others(37): Show c.643+39464_643+39481dupTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9384794	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02647.hp1 others(1): Show HG02055.hp1 HG02615.hp2 HG02647.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0001 a0001c0003t0001 a0001c0008t0002 a0001c0002t0001 a0001c0003t0001 a0001c0008t0002	a0001c0002t0001g0035 a0001c0003t0001g0001 a0001c0003t0001g0046 others(1): Show a0001c0002t0001g0035 a0001c0003t0001g0001 a0001c0003t0001g0046 a0001c0008t0002g0187	4	188	0.0213	18	c.542 others(35): Show c.542-6159_542-6142dupCACACACACACACACACA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430027	A A	AATATATT others(11): Show AATATATTCTATATAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0126 a0001c0002t0002g0003 a0001c0001t0001g0126 a0001c0002t0002g0003	2	188	0.0106	18	c.542 others(37): Show c.542-51375_542-51374insATATTATATAGAATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430040	G G	GAATATAT others(11): Show GAATATATATATTCTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02145.hp1 others(12): Show HG01243.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0008t0002	a0001c0001t0002g0093 a0001c0002t0001g0010 a0001c0002t0001g0011 others(12): Show a0001c0001t0002g0093 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0051 a0001c0002t0002g0048 a0001c0002t0002g0063 a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0003t0001g0046 a0001c0003t0002g0043 a0001c0004t0001g0091 a0001c0004t0001g0127 a0001c0004t0001g0131 a0001c0008t0002g0187	15	188	0.0798	18	c.542 others(37): Show c.542-51405_542-51388dupATATAGAATATATATATT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430076	T T	TAATATAT others(11): Show TAATATATATATTCTATAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0045 a0001c0002t0002g0025 a0001c0002t0002g0045	2	188	0.0106	18	c.542 others(37): Show c.542-51424_542-51423insCTATAGAATATATATATT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	188	0.0053	18	c.541 others(37): Show c.541+20780_541+20797dupAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG02055.hp1 others(1): Show HG00323.hp1 HG00738.hp1 HG02055.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0003t0001g0066 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0003t0001g0066 a0001c0003t0002g0065	4	188	0.0213	18	c.448 others(31): Show c.448+47_448+64dupTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9506422	C C	CCCCCCCC others(11): Show CCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	188	0.0053	18	c.324 others(35): Show c.324-1261_324-1260insCGGGGGGGGGGGGGGGGG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02572.hp1 HG02897.hp1 others(4): Show HG00738.hp1 HG02572.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03471.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0002g0162 a0001c0002t0001g0044 a0001c0002t0002g0025 others(4): Show a0001c0001t0002g0162 a0001c0002t0001g0044 a0001c0002t0002g0025 a0001c0002t0002g0062 a0001c0003t0001g0016 a0001c0003t0002g0065 a0001c0004t0001g0125	7	188	0.0372	18	c.323 others(35): Show c.323+9730_323+9747dupAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03942.hp1 others(3): Show HG03471.hp1 HG03471.hp2 HG03942.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001	a0001c0002t0002g0003 a0001c0002t0002g0045 a0001c0003t0001g0004 others(3): Show a0001c0002t0002g0003 a0001c0002t0002g0045 a0001c0003t0001g0004 a0001c0003t0001g0023 a0001c0003t0001g0060 a0001c0004t0001g0125	6	188	0.0319	18	c.213 others(35): Show c.213-1309_213-1308insAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	188	0.0053	18	c.118 others(35): Show c.118-2233_118-2232insAAAAAAAATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	188	0.0053	18	c.118 others(35): Show c.118-2233_118-2232insAAAAAAAAAATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	188	0.0053	18	c.118 others(35): Show c.118-2233_118-2232insAAAAAAAAAAAATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771858	C C	CATATATA others(11): Show CATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0296 a0001c0001t0001g0297	2	334	0.0060	18	c.439 others(33): Show c.439-807_439-806insATATATAAATACATATGA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18			chr1	TogoVar
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 NA20129.hp2 HG02559.hp1 HG02809.hp2 NA20129.hp2	a0004 a0007 a0004 a0007	a0004c0004 a0007c0007 a0004c0004 a0007c0007	a0004c0004t0005 a0007c0007t0005 a0004c0004t0005 a0007c0007t0005	a0004c0004t0005g0270 a0004c0004t0005g0274 a0007c0007t0005g0269 a0004c0004t0005g0270 a0004c0004t0005g0274 a0007c0007t0005g0269	3	290	0.0103	18	c.287 others(37): Show c.287+29600_287+29617dupTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121173323	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	290	0.0035	18	c.877 others(37): Show c.877+15708_877+15725dupAATAATAATAATAATAAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG02559.hp1 HG02886.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0274 a0004c0004t0005g0275 a0004c0004t0005g0274 a0004c0004t0005g0275	2	290	0.0069	18	c.211 others(37): Show c.2111-6014_2111-5997dupTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213434	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0181 a0002c0002t0008g0181	1	350	0.0029	18	c.248 others(35): Show c.248+7367_248+7368insATATGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGCG others(11): Show TGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0035 a0001c0001t0012g0035	1	350	0.0029	18	c.248 others(35): Show c.248+7410_248+7411insTGTGCGCGCGCGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(11): Show TGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0187 a0001c0003t0009g0188 a0001c0003t0009g0187 a0001c0003t0009g0188	2	350	0.0057	18	c.248 others(35): Show c.248+7410_248+7411insTGTGTGTGCGCGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0189 a0001c0003t0009g0189	1	350	0.0029	18	c.248 others(35): Show c.248+7410_248+7411insTGTGTGTGTGCGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	350	0.0029	18	c.248 others(35): Show c.248+7410_248+7411insTGTGTGTGTGTGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147320579	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0042 a0001c0001t0005g0043	2	350	0.0057	18	c.180 others(37): Show c.1802+4187_1802+4188insGTTTGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337192	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp2 others(26): Show HG00438.hp1 HG00544.hp2 HG00621.hp2 HG01081.hp2 HG01496.hp2 HG01934.hp2 HG03130.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 NA18522.hp2 NA18939.hp1 NA18945.hp2 NA18952.hp1 NA18960.hp2 NA18980.hp1 NA18990.hp1 NA18993.hp2 NA19006.hp2 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19091.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0007c0009	a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 others(4): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0001t0040 a0001c0004t0007 a0001c0011t0003 a0007c0009t0003	a0001c0001t0003g0048 a0001c0001t0003g0145 a0001c0001t0003g0307 others(26): Show a0001c0001t0003g0048 a0001c0001t0003g0145 a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0010g0312 a0001c0001t0010g0323 a0001c0001t0010g0324 a0001c0001t0010g0327 a0001c0001t0018g0335 a0001c0001t0018g0336 a0001c0001t0018g0337 a0001c0001t0040g0313 a0001c0004t0007g0341 a0001c0011t0003g0314 a0007c0009t0003g0319	29	350	0.0829	18	c.214 others(37): Show c.2147-1981_2147-1964dupCACACACACACACACACA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337214	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02257.hp2 others(10): Show HG01891.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG03831.hp2 NA18906.hp1 NA18960.hp1 NA18977.hp2 NA18988.hp1 NA19030.hp2 NA19043.hp1 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0003 a0001c0001t0042 a0001c0004t0007 others(3): Show a0001c0001t0003 a0001c0001t0042 a0001c0004t0007 a0002c0002t0002 a0002c0002t0014 a0002c0002t0017	a0001c0001t0003g0328 a0001c0001t0042g0321 a0001c0004t0007g0013 others(10): Show a0001c0001t0003g0328 a0001c0001t0042g0321 a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 a0001c0004t0007g0172 a0002c0002t0002g0003 a0002c0002t0002g0083 a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 a0002c0002t0014g0157 a0002c0002t0017g0098	13	350	0.0371	18	c.214 others(37): Show c.2147-1964_2147-1963insCACACACACACACACAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	350	0.0029	18	c.72 others(29): Show c.7262_*7263insGAGAGAGAGAGAGAGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01993.hp1 HG02004.hp1 others(8): Show HG01261.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp2 HG02132.hp1 HG02630.hp1 NA18939.hp2 NA18960.hp1 NA19000.hp2 NA19062.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0063 a0002c0002t0002g0064 others(8): Show a0002c0002t0002g0032 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0090 a0002c0002t0002g0120 a0002c0002t0002g0133 a0002c0002t0002g0151	11	350	0.0314	18	c.72 others(29): Show c.7262_*7263insGAGAGAGAGAGAGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0058 a0001c0001t0039g0058	1	350	0.0029	18	c.72 others(29): Show c.7262_*7263insGAGAGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18988.hp1 NA18980.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0042 a0001c0001t0010 a0001c0001t0042	a0001c0001t0010g0312 a0001c0001t0042g0321 a0001c0001t0010g0312 a0001c0001t0042g0321	2	350	0.0057	18	c.72 others(29): Show c.7262_*7263insGAGTGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24882378	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18981.hp1 NA19065.hp2 NA18612.hp2 NA18981.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015	a0001c0001t0004g0038 a0001c0001t0012g0191 a0001c0001t0015g0112 a0001c0001t0004g0038 a0001c0001t0012g0191 a0001c0001t0015g0112	3	242	0.0124	18	c.155 others(37): Show c.155-25239_155-25222dupTTTTTTTTTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24964647	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02145.hp1 HG02572.hp1 others(7): Show HG02056.hp1 HG02145.hp1 HG02572.hp1 HG02622.hp1 HG02886.hp2 HG04115.hp2 NA18981.hp1 NA18998.hp2 NA19058.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0038 others(6): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0038 a0001c0001t0047 a0001c0001t0054 a0001c0001t0084 a0001c0001t0090 a0001c0001t0095 a0001c0001t0096	a0001c0001t0005g0018 a0001c0001t0012g0191 a0001c0001t0012g0236 others(7): Show a0001c0001t0005g0018 a0001c0001t0012g0191 a0001c0001t0012g0236 a0001c0001t0038g0185 a0001c0001t0047g0204 a0001c0001t0054g0014 a0001c0001t0084g0183 a0001c0001t0090g0184 a0001c0001t0095g0200 a0001c0001t0096g0201	10	242	0.0413	18	c.154 others(37): Show c.154+10000_154+10017dupCACACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24976852	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0006 a0001c0001t0030g0006	1	242	0.0041	18	c.-32 others(35): Show c.-32-2020_-32-2003dupAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0241 a0001c0001t0023g0241	1	242	0.0041	18	c.-32 others(37): Show c.-32-27527_-32-27510dupAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STYK1_chr12_10613923_10679052	10650119	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02698.hp2 HG00673.hp2 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0020 a0001c0001t0002 a0002c0003t0020	a0001c0001t0002g0198 a0002c0003t0020g0152 a0001c0001t0002g0198 a0002c0003t0020g0152	2	368	0.0054	18	c.-19 others(39): Show c.-194-12941_-194-12924dupTTTTTTTTTTTTTTTTTT	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	1/10			chr12	TogoVar
STYXL1_chr7_75991342_76053000	75994983	T T	TTGGATTT others(11): Show TTGGATTTTTACAGCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0319 a0002c0004t0008g0319	1	356	0.0028	18	c.14 others(29): Show c.1484_*1485insGGCCGCTGTAAAAATCCA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding		1358		chr7	TogoVar
STYXL1_chr7_75991342_76053000	75999495	G G	GTATGTGT others(11): Show GTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	356	0.0028	18	c.810 others(35): Show c.810+1394_810+1395insTACACACACACACACATA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00735.hp2 others(41): Show HG00323.hp1 HG00438.hp2 HG00735.hp2 HG01074.hp1 HG01168.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG02027.hp1 HG02071.hp2 HG02083.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02897.hp1 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp2 NA18982.hp1 NA18991.hp2 NA18994.hp1 NA19003.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19079.hp2 NA19090.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0005t0002	a0001c0001t0001g0341 a0001c0001t0003g0005 a0001c0001t0003g0006 others(41): Show a0001c0001t0001g0341 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0002t0002g0033 a0001c0002t0002g0041 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0080 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0003t0001g0265 a0001c0005t0002g0083 a0001c0005t0002g0105 a0001c0005t0002g0124 a0001c0005t0002g0131 a0001c0005t0002g0140 a0001c0005t0002g0143 a0001c0005t0002g0144 a0001c0005t0002g0146	44	356	0.1236	18	c.308 others(35): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76026192	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	356	0.0028	18	c.165 others(35): Show c.165+2432_165+2449dupTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	3/8			chr7	TogoVar
STYXL2_chr1_167089075_167134165	167111513	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	362	0.0028	18	c.111 others(35): Show c.111-2196_111-2195insTATATATATATATACACA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

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