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
RRM1_chr11_4089799_4143932	4130087	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	310	0.0032	37	c.176 others(54): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATATATATA	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18			chr11	TogoVar
RRP12_chr10_97351701_97406340	97384121	G G	GCCAGGAC others(30): Show GCCAGGACGGAGGCCCTGAGCACCCCCAACCTCAGCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(114): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0013	a0001c0011 a0001c0015 a0001c0019 others(12): Show a0001c0011 a0001c0015 a0001c0019 a0001c0025 a0001c0026 a0002c0022 a0003c0002 a0003c0024 a0003c0027 a0005c0023 a0006c0012 a0008c0017 a0009c0021 a0011c0034 a0013c0035	a0001c0011t0001 a0001c0015t0001 a0001c0019t0001 others(13): Show a0001c0011t0001 a0001c0015t0001 a0001c0019t0001 a0001c0025t0001 a0001c0026t0001 a0002c0022t0001 a0003c0002t0001 a0003c0002t0002 a0003c0024t0001 a0003c0027t0001 a0005c0023t0001 a0006c0012t0001 a0008c0017t0001 a0009c0021t0001 a0011c0034t0001 a0013c0035t0001	a0001c0011t0001g0199 a0001c0011t0001g0201 a0001c0011t0001g0202 others(103): Show a0001c0011t0001g0199 a0001c0011t0001g0201 a0001c0011t0001g0202 a0001c0011t0001g0203 a0001c0011t0001g0204 a0001c0015t0001g0198 a0001c0015t0001g0200 a0001c0015t0001g0328 a0001c0019t0001g0205 a0001c0019t0001g0206 a0001c0025t0001g0292 a0001c0026t0001g0265 a0002c0022t0001g0281 a0003c0002t0001g0004 a0003c0002t0001g0008 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0208 a0003c0002t0001g0217 a0003c0002t0001g0218 a0003c0002t0001g0220 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0229 a0003c0002t0001g0230 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0002t0001g0235 a0003c0002t0001g0254 a0003c0002t0001g0256 a0003c0002t0001g0257 a0003c0002t0001g0259 a0003c0002t0001g0260 a0003c0002t0001g0261 a0003c0002t0001g0262 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0266 a0003c0002t0001g0267 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0275 a0003c0002t0001g0276 a0003c0002t0001g0277 a0003c0002t0001g0278 a0003c0002t0001g0279 a0003c0002t0001g0280 a0003c0002t0001g0283 a0003c0002t0001g0284 a0003c0002t0001g0285 a0003c0002t0001g0286 a0003c0002t0001g0287 a0003c0002t0001g0288 a0003c0002t0001g0289 a0003c0002t0001g0290 a0003c0002t0001g0291 a0003c0002t0001g0293 a0003c0002t0001g0294 a0003c0002t0001g0295 a0003c0002t0001g0296 a0003c0002t0001g0297 a0003c0002t0001g0298 a0003c0002t0001g0299 a0003c0002t0001g0300 a0003c0002t0001g0301 a0003c0002t0001g0302 a0003c0002t0001g0303 a0003c0002t0001g0304 a0003c0002t0001g0306 a0003c0002t0001g0307 a0003c0002t0001g0308 a0003c0002t0001g0309 a0003c0002t0001g0310 a0003c0002t0001g0311 a0003c0002t0001g0312 a0003c0002t0001g0313 a0003c0002t0001g0314 a0003c0002t0001g0315 a0003c0002t0001g0316 a0003c0002t0001g0318 a0003c0002t0001g0319 a0003c0002t0001g0322 a0003c0002t0001g0323 a0003c0002t0001g0324 a0003c0002t0001g0327 a0003c0002t0002g0255 a0003c0024t0001g0321 a0003c0027t0001g0305 a0005c0023t0001g0282 a0006c0012t0001g0272 a0006c0012t0001g0273 a0006c0012t0001g0274 a0006c0012t0001g0320 a0008c0017t0001g0228 a0008c0017t0001g0236 a0009c0021t0001g0317 a0011c0034t0001g0107 a0013c0035t0001g0325	117	398	0.2940	37	c.120 others(56): Show c.1208+1044_1208+1045insTTGCTGAGGTTGGGGGTGCTCAGGGC CTCCGTCCTGG	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	10/33			chr10	TogoVar
RRP12_chr10_97351701_97406340	97384125	G G	GGACGGAG others(30): Show GGACGGAGGCCCTGAGCACCCCCAACCTCAGCAACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02109.hp1 others(21): Show HG00639.hp2 HG01884.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0018 a0001c0006 a0001c0008 a0001c0018	a0001c0006t0001 a0001c0008t0001 a0001c0008t0003 others(2): Show a0001c0006t0001 a0001c0008t0001 a0001c0008t0003 a0001c0008t0004 a0001c0018t0001	a0001c0006t0001g0213 a0001c0006t0001g0216 a0001c0006t0001g0239 others(20): Show a0001c0006t0001g0213 a0001c0006t0001g0216 a0001c0006t0001g0239 a0001c0006t0001g0240 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0006t0001g0246 a0001c0006t0001g0247 a0001c0006t0001g0248 a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0006t0001g0251 a0001c0008t0001g0209 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0008t0001g0219 a0001c0008t0001g0237 a0001c0008t0001g0238 a0001c0008t0001g0258 a0001c0008t0001g0326 a0001c0008t0003g0210 a0001c0008t0004g0207 a0001c0018t0001g0018	24	398	0.0603	37	c.120 others(56): Show c.1208+1040_1208+1041insATGGTTGCTGAGGTTGGGGGTGCTCA GGGCCTCCGTC	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	10/33			chr10	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTATATA others(30): Show TTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	78	0.0128	37	c.321 others(52): Show c.321-509_321-508insTATATATATATATATATATATATATATATA TATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	8	0.1250	37	c.142 others(54): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTP3_chr3_46492976_46505950	46494532	T T	TCGTCTGA others(30): Show TCGTCTGAGATGTGGGGAGTGCCTCTGCCCCGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	424	0.0024	37	c.-35 others(48): Show c.-3531_-3530insCGTCTGAGATGTGGGGAGTGCCTCTGCCCCGCCG CCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3443		chr3	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0236 a0001c0001t0008g0236	1	115	0.0087	37	c.759 others(52): Show c.759-523_759-522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(30): Show TATATATATTGTCATATATATGTGTCATATATATTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	143	0.0070	37	c.-27 others(48): Show c.-2733_-2732insATATATATTGTCATATATATGTGTCATATATATT GTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626461	C C	CATATATG others(30): Show CATATATGTGTCATATATATGTGTCATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	131	0.0076	37	c.-23 others(48): Show c.-2363_-2362insATATATGTGTCATATATATGTGTCATATATGTGT CAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1936		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTCATA others(30): Show ATGTCATATATATGTGTCATATATATGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	99	0.0101	37	c.-20 others(48): Show c.-2076_-2075insTGTCATATATATGTGTCATATATATGTCATATAT ATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
RUSC2_chr9_35485111_35566895	35495051	A A	AATATATA others(30): Show AATATATACTATAGTATATATTATATATAGTATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	306	0.0033	37	c.-93 others(54): Show c.-93+4904_-93+4940dupTATAGTATATATTATATATACTATAGTA TATATTATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18945.hp1 HG02735.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0355 a0001c0001t0001g0160 a0001c0001t0001g0355	2	6	0.3333	37	c.535 others(54): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(30): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01981.hp1 HG01256.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0001 a0001c0029t0008 a0001c0001t0001 a0001c0029t0008	a0001c0001t0001g0012 a0001c0029t0008g0089 a0001c0001t0001g0012 a0001c0029t0008g0089	2	10	0.2000	37	c.49- others(54): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100A7_chr1_153452744_153465651	153463891	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	418	0.0024	37	c.-33 others(48): Show c.-3302_-3301insCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCC	S100A7	ENSG00000143556.9	transcript	ENST00000368723.4	protein_coding		3241		chr1	TogoVar
S100PBP_chr1_32812653_32863875	32824846	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	337	0.0030	37	c.-11 others(54): Show c.-119-467_-119-466insTATATATATATATATATATATATATATA TATATATAT	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6			chr1	TogoVar
S1PR4_chr19_3173769_3185332	3178246	A A	ATCGGGCT others(30): Show ATCGGGCTCTCTGGCCTCAGTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	222	0.0045	37	c.-54 others(46): Show c.-547_-546insTCGGGCTCTCTGGCCTCAGTTCCCCTTCTGCAACGC C	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		522		chr19	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0017 a0001c0002t0013g0017	1	53	0.0189	37	c.-28 others(48): Show c.-2803_-2802insTATATATATATATATATATATATATTTTTTTTTT TTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01069.hp1 HG01243.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0009 a0001c0002t0002 a0002c0001t0009	a0001c0002t0002g0144 a0002c0001t0009g0103 a0001c0002t0002g0144 a0002c0001t0009g0103	2	54	0.0370	37	c.-28 others(48): Show c.-2803_-2802insTATATATATATATATATATATATTTTTTTTTTTT TTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMD11_chr1_918923_949574	941498	A A	AGGCTGGG others(30): Show AGGCTGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	432	0.0023	37	c.135 others(54): Show c.1358+197_1358+198insGGGGGGGGGGGGGGGAGGGGGGGGGGGG GGGGGGCTG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD7_chr3_169906572_169944175	169939925	C C	CGGGGGGG others(30): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	37	c.14 others(48): Show c.1419_*1420insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGG	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding		751		chr3	TogoVar
SAMHD1_chr20_36885229_36956708	36890418	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0206 a0001c0001t0021g0206	1	338	0.0030	37	c.25 others(48): Show c.2513_*2514insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2513		chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	74	0.0135	37	c.870 others(54): Show c.870-3504_870-3503insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	4	0.2500	37	c.-20 others(46): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0135 a0002c0003t0002g0135	1	13	0.0769	37	c.995 others(52): Show c.995-649_995-648insAAAAAAAAAAAAATATATATATATATATAT ATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18966.hp1 HG03834.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0089 a0001c0001t0002g0092	2	14	0.1429	37	c.995 others(52): Show c.995-649_995-648insAAAAAAAAAAAAAAAAATATATATATATAT ATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668448	T T	TCCCTCTC others(30): Show TCCCTCTCCCTCACCCTCCCTCCTCTCCCTCCACCCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0005	1	260	0.0038	37	c.249 others(56): Show c.2496-1579_2496-1578insGAGGGTGGAGGGAGAGGAGGGAGGGT GAGGGAGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669506	T T	TCTGATCA others(30): Show TCTGATCAGGGCCTGATCTTCTCAGACTGCCCTGCAAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	260	0.0038	37	c.249 others(56): Show c.2495+1041_2495+1077dupGTTGCAGGGCAGTCTGAGAAGATCAG GCCCTGATCAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387620	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0201 a0001c0013t0002g0201	1	317	0.0032	37	c.157 others(54): Show c.157-2512_157-2511insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387624	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18984.hp1 NA18952.hp2 NA18984.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0071 a0003c0008t0003g0076 a0003c0008t0003g0071 a0003c0008t0003g0076	2	315	0.0063	37	c.157 others(54): Show c.157-2508_157-2507insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387632	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18954.hp1 HG00738.hp2 NA18954.hp1	a0003 a0011 a0003 a0011	a0003c0006 a0011c0039 a0003c0006 a0011c0039	a0003c0006t0001 a0011c0039t0001 a0003c0006t0001 a0011c0039t0001	a0003c0006t0001g0084 a0011c0039t0001g0292 a0003c0006t0001g0084 a0011c0039t0001g0292	2	316	0.0063	37	c.157 others(54): Show c.157-2500_157-2499insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0129 a0001c0009t0002g0129	1	309	0.0032	37	c.157 others(54): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387640	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03942.hp2 NA20905.hp1 HG03704.hp2 HG03942.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0002c0002t0006 a0001c0001t0002 a0002c0002t0004 a0002c0002t0006	a0001c0001t0002g0001 a0002c0002t0004g0109 a0002c0002t0006g0138 a0001c0001t0002g0001 a0002c0002t0004g0109 a0002c0002t0006g0138	3	302	0.0099	37	c.157 others(54): Show c.157-2492_157-2491insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387644	C C	CTTCCTTC others(30): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04228.hp1 HG03831.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0002 a0001c0003t0002 a0002c0004t0002	a0001c0003t0002g0241 a0002c0004t0002g0140 a0001c0003t0002g0241 a0002c0004t0002g0140	2	305	0.0066	37	c.157 others(54): Show c.157-2488_157-2487insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBK2_chr19_55523611_55542133	55536355	T T	TGGGGGTC others(30): Show TGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(67): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG01109.hp1 HG01123.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18906.hp2 NA18949.hp2 NA18955.hp1 NA18968.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18993.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA20905.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0004 a0001c0018 others(7): Show a0001c0001 a0001c0004 a0001c0018 a0003c0003 a0003c0007 a0003c0025 a0004c0005 a0006c0011 a0008c0028 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0015 a0001c0004t0025 a0001c0018t0003 a0003c0003t0001 a0003c0003t0013 a0003c0003t0026 a0003c0003t0028 a0003c0007t0004 a0003c0007t0016 a0003c0025t0003 a0004c0005t0004 a0004c0005t0016 a0006c0011t0004 a0008c0028t0004 a0009c0014t0005	a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0210 others(47): Show a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0002g0075 a0001c0001t0002g0196 a0001c0001t0002g0217 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0004g0013 a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0009g0074 a0001c0001t0009g0197 a0001c0001t0009g0198 a0001c0001t0011g0018 a0001c0001t0012g0192 a0001c0001t0013g0053 a0001c0001t0013g0081 a0001c0004t0001g0079 a0001c0004t0001g0213 a0001c0004t0003g0006 a0001c0004t0003g0211 a0001c0004t0015g0082 a0001c0004t0015g0193 a0001c0004t0025g0209 a0001c0018t0003g0077 a0003c0003t0001g0101 a0003c0003t0001g0194 a0003c0003t0001g0208 a0003c0003t0013g0219 a0003c0003t0026g0221 a0003c0003t0028g0218 a0003c0007t0004g0202 a0003c0007t0016g0203 a0003c0025t0003g0078 a0004c0005t0004g0014 a0004c0005t0004g0051 a0004c0005t0004g0052 a0004c0005t0004g0076 a0004c0005t0004g0080 a0004c0005t0004g0200 a0004c0005t0004g0207 a0004c0005t0004g0227 a0004c0005t0016g0199 a0004c0005t0016g0204 a0006c0011t0004g0054 a0008c0028t0004g0083 a0009c0014t0005g0195	70	421	0.1663	37	c.-2- others(48): Show c.-2-60_-2-59insGGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACC CCC	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	1/3			chr19	TogoVar
SBK2_chr19_55523611_55542133	55537426	G G	GCCCCAGC others(30): Show GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp2 others(83): Show HG00280.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03225.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 NA18522.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0004 a0001c0008 others(6): Show a0001c0001 a0001c0004 a0001c0008 a0001c0013 a0003c0003 a0003c0007 a0004c0005 a0004c0026 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0004t0003 a0001c0004t0024 a0001c0008t0006 a0001c0013t0002 a0003c0003t0001 a0003c0003t0006 a0003c0007t0004 a0004c0005t0004 a0004c0026t0004 a0010c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0073 a0001c0001t0002g0159 a0001c0001t0005g0024 a0001c0001t0006g0025 a0001c0001t0006g0146 a0001c0001t0006g0167 a0001c0001t0008g0015 a0001c0001t0008g0165 a0001c0001t0012g0068 a0001c0001t0012g0118 a0001c0001t0019g0031 a0001c0001t0019g0060 a0001c0001t0020g0046 a0001c0001t0020g0172 a0001c0001t0027g0174 a0001c0004t0003g0160 a0001c0004t0024g0161 a0001c0008t0006g0106 a0001c0013t0002g0105 a0003c0003t0001g0042 a0003c0003t0001g0072 a0003c0003t0001g0156 a0003c0003t0006g0041 a0003c0007t0004g0202 a0004c0005t0004g0170 a0004c0026t0004g0162 a0010c0027t0001g0190	86	430	0.2000	37	c.-37 others(46): Show c.-376_-375insGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG G	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		294		chr19	TogoVar
SBK2_chr19_55523611_55542133	55538602	G G	GATTCTCT others(30): Show GATTCTCTTGCCTCAGCCTCCCACTCACGTGTGATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0170 a0004c0005t0004g0170	1	432	0.0023	37	c.-15 others(48): Show c.-1552_-1551insAATATCACACGTGAGTGGGAGGCTGAGGCAAGAG AAT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		1470		chr19	TogoVar
SBK3_chr19_55535656_55550543	55536355	T T	TGGGGGTC others(30): Show TGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp1 others(67): Show HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp2 HG01109.hp1 HG01123.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18906.hp2 NA18949.hp1 NA18955.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18993.hp2 NA19006.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0007c0012	a0001c0001t0001 a0001c0002t0001 a0001c0006t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0003 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0002t0001g0002 a0001c0002t0001g0029 a0001c0006t0003g0018 a0007c0012t0001g0044	70	424	0.1651	37	c.44 others(48): Show c.4490_*4491insGGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACC CCC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		4300		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537426	G G	GCCCCAGC others(30): Show GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00609.hp1 others(86): Show HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0007 a0001c0001 a0003c0004 a0005c0007	a0001c0001t0001 a0003c0004t0001 a0005c0007t0001 a0001c0001t0001 a0003c0004t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0003c0004t0001g0012 a0003c0004t0001g0057 a0005c0007t0001g0020	89	434	0.2051	37	c.34 others(48): Show c.3419_*3420insGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3229		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148271	A A	AAACACCA others(30): Show AAACACCAGCAGGAAAGAAGCATCATAGAAAGGTTTGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0049 a0001c0006t0006g0049	1	202	0.0050	37	c.168 others(52): Show c.168-852_168-851insGCAAACCTTTCTATGATGCTTCTTTCCTGC TGGTGTT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(30): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG02109.hp1 others(5): Show HG01109.hp1 HG01123.hp2 HG02109.hp1 HG02258.hp1 HG02647.hp1 HG04184.hp2 HG06807.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0020 a0002c0003 a0002c0008 a0003c0021	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0020t0001 a0002c0003t0001 a0002c0008t0001 a0003c0021t0001	a0001c0001t0001g0076 a0001c0006t0001g0109 a0001c0007t0001g0028 others(5): Show a0001c0001t0001g0076 a0001c0006t0001g0109 a0001c0007t0001g0028 a0001c0020t0001g0027 a0002c0003t0001g0010 a0002c0008t0001g0120 a0002c0008t0001g0126 a0003c0021t0001g0071	8	128	0.0625	37	c.167 others(52): Show c.167+847_167+883dupAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148627	C C	CCTCCTTC others(30): Show CCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0002 a0001c0010t0001g0002	1	202	0.0050	37	c.167 others(52): Show c.167+741_167+742insAGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	T T	TCCTCCTT others(30): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0071 a0003c0021t0001g0071	1	65	0.0154	37	c.167 others(52): Show c.167+632_167+668dupGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148802	C C	CCCTTCCC others(30): Show CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19030.hp1 HG03516.hp2 NA19030.hp1	a0004 a0011 a0004 a0011	a0004c0012 a0011c0019 a0004c0012 a0011c0019	a0004c0012t0002 a0011c0019t0001 a0004c0012t0002 a0011c0019t0001	a0004c0012t0002g0005 a0011c0019t0001g0034 a0004c0012t0002g0005 a0011c0019t0001g0034	2	202	0.0099	37	c.167 others(52): Show c.167+566_167+567insCGCGGGAGGTTTTCTGGGGTGAAGGAGGGT GGGAAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(30): Show CACACACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	246	0.0041	37	c.16 others(48): Show c.1629_*1630insACACACACACACACACACACACACACACACACAC ACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154786886	A A	AAAGAACT others(30): Show AAAGAACTTTTTTTGCCATTTTATGTAGCAAAAATGCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	280	0.0036	37	c.160 others(52): Show c.160-972_160-936dupGAACTTTTTTTGCCATTTTATGTAGCAAAA ATGCTAA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78460770	T T	TTCCTTCC others(30): Show TTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	318	0.0031	37	c.852 others(54): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	220	0.0045	37	c.852 others(54): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(30): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01928.hp1 NA18995.hp2 others(1): Show HG00544.hp2 HG01928.hp1 NA18995.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0017 a0001c0001t0001g0124 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0124 a0001c0001t0001g0269 a0001c0001t0015g0141	4	341	0.0117	37	c.-47 others(48): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0176 a0004c0008t0001g0176	1	8	0.1250	37	c.295 others(58): Show c.2954+16144_2954+16145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0019 a0004c0058t0019	a0004c0058t0019g0060 a0004c0058t0019g0060	1	417	0.0024	37	c.196 others(54): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar

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