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
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG02083.hp1 others(8): Show HG00609.hp2 HG01109.hp2 HG02083.hp1 HG02630.hp1 HG03041.hp1 HG03540.hp1 HG03579.hp2 HG04199.hp1 NA18941.hp1 NA18942.hp1 NA19064.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0026	a0001c0001 a0001c0034 a0003c0003 others(2): Show a0001c0001 a0001c0034 a0003c0003 a0009c0011 a0026c0030	a0001c0001t0001 a0001c0001t0004 a0001c0034t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0034t0001 a0003c0003t0001 a0009c0011t0001 a0026c0030t0008	a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0100 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0004g0048 a0001c0034t0001g0117 a0003c0003t0001g0126 a0009c0011t0001g0104 a0026c0030t0008g0363	11	152	0.0724	26	c.341 others(43): Show c.3415-861_3415-860insTATATATATATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414002	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0201 a0003c0003t0014g0201	1	380	0.0026	26	c.341 others(43): Show c.3415-882_3415-881insTTATATATATATATATATATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(19): Show TATAATATATAATACATATTTTATAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00642.hp2 others(37): Show HG00140.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01255.hp1 HG01358.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02135.hp2 HG02273.hp1 HG02683.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18941.hp1 NA18948.hp1 NA18964.hp1 NA18983.hp1 NA19011.hp1 NA19060.hp1 NA19066.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0034	a0001c0001t0001g0017 a0001c0001t0001g0288 a0001c0001t0001g0289 others(36): Show a0001c0001t0001g0017 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0003g0297 a0001c0001t0003g0303 a0001c0001t0003g0322 a0001c0001t0012g0313 a0001c0001t0012g0314 a0001c0001t0012g0315 a0001c0001t0034g0330	40	360	0.1111	26	c.341 others(45): Show c.3415-1733_3415-1732insCCTATAAAATATGTATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(19): Show TATAATATATAATATATATTATATAGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp1 HG02145.hp2 HG01175.hp2 HG01943.hp1 HG02145.hp2	a0005 a0007 a0018 a0005 a0007 a0018	a0005c0005 a0007c0007 a0018c0021 a0005c0005 a0007c0007 a0018c0021	a0005c0005t0001 a0007c0007t0002 a0018c0021t0008 a0005c0005t0001 a0007c0007t0002 a0018c0021t0008	a0005c0005t0001g0083 a0007c0007t0002g0263 a0018c0021t0008g0079 a0005c0005t0001g0083 a0007c0007t0002g0263 a0018c0021t0008g0079	3	323	0.0093	26	c.341 others(45): Show c.3415-1758_3415-1733dupCCTATATAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475093	C C	CGTATATA others(19): Show CGTATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0025 a0026 a0025 a0026	a0025c0033 a0026c0030 a0025c0033 a0026c0030	a0025c0033t0008 a0026c0030t0008 a0025c0033t0008 a0026c0030t0008	a0025c0033t0008g0364 a0026c0030t0008g0363 a0025c0033t0008g0364 a0026c0030t0008g0363	2	172	0.0116	26	c.235 others(41): Show c.235-750_235-749insATATATATATATATATACATATATAC	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475123	T T	TATATATG others(19): Show TATATATGTATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0004 a0024c0031t0004	a0024c0031t0004g0031 a0024c0031t0004g0031	1	336	0.0030	26	c.235 others(41): Show c.235-780_235-779insGTATATATATATATATATACATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCNN1G_chr16_23177745_23221883	23204302	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	318	0.0031	26	c.107 others(45): Show c.1078-5423_1078-5422insCATATATATATATATATATATATATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(19): Show TACATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	151	0.0066	26	c.107 others(45): Show c.1078-5417_1078-5416insCATATATATATATATATATATATAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0246 a0001c0001t0005g0246	1	100	0.0100	26	c.107 others(45): Show c.1078-5415_1078-5414insTATATATATATAGAGAGAGAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52945744	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02109.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0008 a0001c0001t0006 a0001c0003t0008	a0001c0001t0006g0034 a0001c0003t0008g0033 a0001c0001t0006g0034 a0001c0003t0008g0033	2	259	0.0077	26	c.128 others(43): Show c.128-2249_128-2248insATATATATATATATATATATATATAT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173396741	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0133 a0001c0001t0024g0133	1	182	0.0055	26	c.-15 others(43): Show c.-15+2326_-15+2327insTCACACACACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding	1/2			chr4	TogoVar
SCRN1_chr7_29915109_29994801	29966159	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19088.hp2 NA18522.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0006 a0001c0001t0006 a0002c0002t0006	a0001c0001t0006g0144 a0002c0002t0006g0224 a0001c0001t0006g0144 a0002c0002t0006g0224	2	33	0.0606	26	c.159 others(43): Show c.159+2724_159+2749dupCTCTCTCTCTCTCTCTCTCTCTCTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCTR_chr2_119434843_119529483	119444440	T T	TATATATA others(19): Show TATATATACGTACGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA20905.hp2 HG01952.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0004 a0001c0016t0001 a0001c0002t0004 a0001c0016t0001	a0001c0002t0004g0022 a0001c0016t0001g0281 a0001c0002t0004g0022 a0001c0016t0001g0281	2	267	0.0075	26	c.114 others(45): Show c.1140+2293_1140+2318dupGTGTATATATATACGTACGTATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(19): Show TATATATATACACATATATACGTACGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0108 a0001c0002t0004g0030 a0001c0002t0001g0108 a0001c0002t0004g0030	2	266	0.0075	26	c.114 others(45): Show c.1140+2227_1140+2252dupTCGTACGTATATATGTGTATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	628896	C C	CTTTTCTT others(19): Show CTTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	410	0.0073	26	c.-17 others(37): Show c.-1754_-1753insAGAAAGAAAGAAAGAAAGAAAGAAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1716		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192577	T T	TGTATATA others(19): Show TGTATATATACACGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0151 a0002c0002t0002g0151	1	276	0.0036	26	c.11 others(39): Show c.11419_*11420insGTATATATATATACGTGTATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4702		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192610	G G	GTATATAT others(19): Show GTATATATATATATATATATACGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0251 a0001c0004t0005g0251	1	240	0.0042	26	c.11 others(39): Show c.11386_*11387insTATACGTATATATATATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4669		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281314	T T	TCCTCAGC others(19): Show TCCTCAGCCACCCTCCTGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0193 a0001c0006t0012g0193	1	268	0.0037	26	c.484 others(43): Show c.484+9731_484+9732insGGGAGGTGACAGGAGGGTGGCTGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281540	T T	TCACCCTC others(19): Show TCACCCTCCTGTCACCTCCCCCTCAGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0088 a0003c0001t0001g0090 a0003c0001t0001g0088 a0003c0001t0001g0090	2	117	0.0171	26	c.484 others(43): Show c.484+9480_484+9505dupGCTGAGGGGGAGGTGACAGGAGGGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054701	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0341 a0002c0001t0001g0341	1	110	0.0091	26	c.120 others(43): Show c.1208-943_1208-942insTATATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	121	0.0083	26	c.120 others(43): Show c.1208-967_1208-966insAAAAAATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0055 a0001c0020t0001g0055	1	121	0.0083	26	c.120 others(43): Show c.1208-967_1208-966insAAAAAAAAAAAAAAAATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227389893	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	413	0.0024	26	c.-19 others(37): Show c.-1945_-1944insAGAAAAGAAAAGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1945		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(19): Show GCCCCGCCCCTCCCTAGCCCCCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	166	0.0060	26	c.-30 others(35): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		235		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524863	G G	GCCCCCCC others(19): Show GCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01978.hp1 HG02809.hp1 others(2): Show HG01175.hp1 HG01978.hp1 HG02809.hp1 HG04228.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053	5	271	0.0185	26	c.-29 others(35): Show c.-291_-290insCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		219		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524888	G G	GCCCCCCC others(19): Show GCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02055.hp1 HG02056.hp1 others(1): Show HG00438.hp2 HG02055.hp1 HG02056.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0058	4	273	0.0147	26	c.-26 others(35): Show c.-266_-265insCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		194		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524913	G G	GCCCCCCC others(19): Show GCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02647.hp1 others(3): Show HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0052	6	273	0.0220	26	c.-24 others(35): Show c.-241_-240insCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		169		chr11	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0265 a0001c0001t0005g0265	1	126	0.0079	26	c.26 others(37): Show c.2642_*2667dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0275 a0004c0006t0002g0275	1	72	0.0139	26	c.-32 others(37): Show c.-3205_-3204insATATATATATATATATATATATTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96540340	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	113	0.0088	26	c.60+ others(43): Show c.60+46025_60+46026insTATATATATATATATATATATATATA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96540340	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0267 a0003c0004t0001g0267	1	113	0.0088	26	c.60+ others(43): Show c.60+46010_60+46011insGTATATATATATATATATATATATAT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19002.hp2 HG00140.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0040 a0001c0003t0001g0242 a0001c0001t0001g0040 a0001c0003t0001g0242	2	75	0.0267	26	c.61- others(43): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294506	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG01257.hp2 others(4): Show HG00438.hp1 HG01243.hp2 HG01257.hp2 HG01496.hp2 HG01981.hp1 HG02738.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0002t0002g0080 others(4): Show a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0105	7	28	0.2500	26	c.675 others(43): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGAGAGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	3	0.3333	26	c.-19 others(37): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 NA18971.hp2 NA19062.hp1 HG01516.hp1 NA18971.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0309 a0001c0001t0002g0079 a0001c0001t0002g0096 a0001c0001t0001g0309 a0001c0001t0002g0079 a0001c0001t0002g0096	3	38	0.0789	26	c.26 others(37): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70588842	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG02109.hp1 HG01516.hp1 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0022 a0001c0001t0023 a0002c0002t0022	a0001c0001t0023g0090 a0002c0002t0022g0045 a0001c0001t0023g0090 a0002c0002t0022g0045	2	231	0.0087	26	c.13 others(35): Show c.132_*133insATATATATATATATATATATATATAT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	133	INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHB_chr1_17013722_17059032	17049647	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	99	0.0101	26	c.72+ others(41): Show c.72+4275_72+4300dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	1/7			chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02523.hp2 NA18946.hp2 others(1): Show HG00735.hp2 HG02523.hp2 NA18946.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0146 a0001c0001t0001g0169	4	59	0.0678	26	c.180 others(41): Show c.180-929_180-904dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3321790	T T	TTCCTTCC others(19): Show TTCCTTCCTTCCTTCCTTCCTTCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0023 a0023	a0023c0083 a0023c0083	a0023c0083t0044 a0023c0083t0044	a0023c0083t0044g0004 a0023c0083t0044g0004	1	116	0.0086	26	c.298 others(45): Show c.298+19928_298+19929insTCCCTCCTTCCTTCCTTCCTTCCTTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3418138	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	105	0.0095	26	c.298 others(47): Show c.298+116259_298+116260insAAAAAAAAAAAAAAAAAAAAAAAA AA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3485683	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0032 a0001c0007t0003g0032	1	13	0.0769	26	c.299 others(47): Show c.299-133375_299-133374insTTTTTTTTTTTTTTTTTTTTTTTT TT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3672757	T T	TTATATAT others(19): Show TTATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03209.hp1 HG02602.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0046 a0002c0009 a0001c0046 a0002c0009	a0001c0046t0022 a0002c0009t0004 a0001c0046t0022 a0002c0009t0004	a0001c0046t0022g0091 a0002c0009t0004g0093 a0001c0046t0022g0091 a0002c0009t0004g0093	2	61	0.0328	26	c.713 others(45): Show c.713+30653_713+30654insATATATATACATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	17	0.0588	26	c.713 others(45): Show c.713+44970_713+44995dupACACACACACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02809.hp2 others(1): Show HG02622.hp2 HG02630.hp2 HG02809.hp2 NA18906.hp1	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0011 a0001c0014 a0002c0013 others(1): Show a0001c0011 a0001c0014 a0002c0013 a0032c0075	a0001c0011t0008 a0001c0014t0018 a0002c0013t0015 others(1): Show a0001c0011t0008 a0001c0014t0018 a0002c0013t0015 a0032c0075t0008	a0001c0011t0008g0028 a0001c0014t0018g0060 a0002c0013t0015g0024 others(1): Show a0001c0011t0008g0028 a0001c0014t0018g0060 a0002c0013t0015g0024 a0032c0075t0008g0015	4	77	0.0519	26	c.848 others(45): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938659	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0025 a0025	a0025c0081 a0025c0081	a0025c0081t0008 a0025c0081t0008	a0025c0081t0008g0075 a0025c0081t0008g0075	1	116	0.0086	26	c.848 others(45): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3954235	C C	CCACCCTC others(19): Show CCACCCTCCCCTCCTGCCTCCCCTCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp2 HG02886.hp1 NA18906.hp2	a0011 a0011	a0011c0021 a0011c0022 a0011c0021 a0011c0022	a0011c0021t0073 a0011c0022t0072 a0011c0021t0073 a0011c0022t0072	a0011c0021t0073g0007 a0011c0022t0072g0008 a0011c0021t0073g0007 a0011c0022t0072g0008	2	116	0.0172	26	c.115 others(45): Show c.1150+2324_1150+2349dupCCTCCTGCCTCCCCTCTACACCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	7/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264432	G G	GAGTGAGG others(19): Show GAGTGAGGGAGGCCGCGTGGACCTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp2 HG01891.hp2 others(7): Show HG01123.hp1 HG01516.hp2 HG01891.hp2 HG02615.hp1 HG02647.hp1 HG02738.hp1 HG03209.hp1 HG03516.hp1 HG03688.hp1 NA18522.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0023 a0027 a0030	a0001c0010 a0001c0032 a0001c0046 others(6): Show a0001c0010 a0001c0032 a0001c0046 a0001c0049 a0003c0001 a0005c0065 a0023c0083 a0027c0089 a0030c0086	a0001c0010t0060 a0001c0032t0058 a0001c0046t0022 others(7): Show a0001c0010t0060 a0001c0032t0058 a0001c0046t0022 a0001c0049t0036 a0003c0001t0059 a0003c0001t0066 a0005c0065t0037 a0023c0083t0044 a0027c0089t0047 a0030c0086t0046	a0001c0010t0060g0017 a0001c0032t0058g0043 a0001c0046t0022g0091 others(7): Show a0001c0010t0060g0017 a0001c0032t0058g0043 a0001c0046t0022g0091 a0001c0049t0036g0109 a0003c0001t0059g0026 a0003c0001t0066g0041 a0005c0065t0037g0065 a0023c0083t0044g0004 a0027c0089t0047g0056 a0030c0086t0046g0012	10	116	0.0862	26	c.638 others(43): Show c.6382-692_6382-691insAGTGAGGGAGGCCGCGTGGACCTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp1 HG02155.hp2 others(2): Show HG00438.hp1 HG02074.hp1 HG02155.hp2 HG04184.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0016 others(1): Show a0001c0001 a0001c0004 a0001c0016 a0001c0024	a0001c0001t0025 a0001c0004t0001 a0001c0004t0079 others(2): Show a0001c0001t0025 a0001c0004t0001 a0001c0004t0079 a0001c0016t0080 a0001c0024t0009	a0001c0001t0025g0086 a0001c0004t0001g0112 a0001c0004t0079g0142 others(2): Show a0001c0001t0025g0086 a0001c0004t0001g0112 a0001c0004t0079g0142 a0001c0016t0080g0166 a0001c0024t0009g0186	5	176	0.0284	26	c.559 others(45): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG02129.hp2 others(1): Show HG00558.hp1 HG02071.hp2 HG02129.hp2 HG03688.hp1	a0001 a0012 a0022 a0001 a0012 a0022	a0001c0001 a0012c0107 a0022c0081 a0001c0001 a0012c0107 a0022c0081	a0001c0001t0009 a0012c0107t0031 a0022c0081t0001 a0001c0001t0009 a0012c0107t0031 a0022c0081t0001	a0001c0001t0009g0122 a0001c0001t0009g0141 a0012c0107t0031g0126 others(1): Show a0001c0001t0009g0122 a0001c0001t0009g0141 a0012c0107t0031g0126 a0022c0081t0001g0182	4	55	0.0727	26	c.559 others(45): Show c.5594-2538_5594-2537insAATATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp2 HG02129.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0025 a0001c0004t0010 a0001c0001t0025 a0001c0004t0010	a0001c0001t0025g0086 a0001c0004t0010g0088 a0001c0001t0025g0086 a0001c0004t0010g0088	2	5	0.4000	26	c.158 others(45): Show c.1584-2142_1584-2117dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar

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