Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	132	0.0076	11	c.414 others(30): Show c.414-84112_414-84102dupAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169002322	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0009 a0001c0008t0012 a0001c0007t0009 a0001c0008t0012	a0001c0007t0009g0113 a0001c0008t0012g0035 a0001c0007t0009g0113 a0001c0008t0012g0035	2	132	0.0152	11	c.414 others(32): Show c.414-118997_414-118987dupTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169089019	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0054 a0001c0006t0015g0054	1	132	0.0076	11	c.413 others(32): Show c.413+104449_413+104459dupTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145831225	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03540.hp2 NA18946.hp1 others(6): Show HG03486.hp2 HG03540.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18969.hp1 NA18980.hp1 NA18991.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0003t0002 a0001c0003t0015 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0015 a0001c0003t0034 a0001c0004t0047	a0001c0001t0002g0012 a0001c0001t0002g0061 a0001c0003t0002g0006 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0061 a0001c0003t0002g0006 a0001c0003t0002g0009 a0001c0003t0015g0009 a0001c0003t0034g0009 a0001c0004t0047g0041	9	326	0.0276	11	c.62 others(22): Show c.6262_*6263insAAAAAAAAAAA	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		1370		chrX	TogoVar
SLITRK4_chrX_143617790_143641101	143628091	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01175.hp1 NA18949.hp1 others(1): Show HG00423.hp2 HG01175.hp1 NA18949.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0086 a0001c0001t0096 a0001c0001t0027 a0001c0001t0086 a0001c0001t0096	a0001c0001t0027g0080 a0001c0001t0027g0116 a0001c0001t0086g0170 others(1): Show a0001c0001t0027g0080 a0001c0001t0027g0116 a0001c0001t0086g0170 a0001c0001t0096g0244	4	335	0.0119	11	c.49 others(20): Show c.493_*503dupAAAAAAAAAAA	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding	2/2	503		chrX	TogoVar
SLITRK4_chrX_143617790_143641101	143636124	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01255.hp1 others(10): Show HG00733.hp2 HG01175.hp1 HG01255.hp1 HG01891.hp2 HG02027.hp1 HG02683.hp2 HG04204.hp1 NA18955.hp1 NA18972.hp1 NA18990.hp1 NA19066.hp1 NA19074.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 others(9): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0039 a0001c0001t0087 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0101 a0001c0001t0104 a0001c0001t0107 a0003c0009t0038	a0001c0001t0005g0009 a0001c0001t0005g0253 a0001c0001t0015g0195 others(10): Show a0001c0001t0005g0009 a0001c0001t0005g0253 a0001c0001t0015g0195 a0001c0001t0019g0223 a0001c0001t0039g0190 a0001c0001t0087g0186 a0001c0001t0095g0206 a0001c0001t0096g0244 a0001c0001t0098g0226 a0001c0001t0101g0225 a0001c0001t0104g0233 a0001c0001t0107g0252 a0003c0009t0038g0183	13	335	0.0388	11	c.-44 others(20): Show c.-441_-440insATTTTTTTTTT	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding		24		chrX	TogoVar
SLK_chr10_103962140_104034233	103966431	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	376	0.0027	11	c.-13 others(22): Show c.-1315_-1314insAAAAAAAAAAG	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding		708		chr10	TogoVar
SLK_chr10_103962140_104034233	103966431	A A	AAAAAAAG others(4): Show AAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0169 a0003c0003t0003g0169	1	376	0.0027	11	c.-13 others(22): Show c.-1315_-1314insAAAAAAGAAAG	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding		708		chr10	TogoVar
SLK_chr10_103962140_104034233	103974614	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0222 a0001c0001t0029g0222	1	376	0.0027	11	c.150 others(28): Show c.150+6735_150+6745dupAAAAAAAAAAA	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLK_chr10_103962140_104034233	103974655	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19082.hp2 NA18946.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0299 a0001c0001t0004g0293 a0001c0001t0004g0299	2	376	0.0053	11	c.150 others(28): Show c.150+6763_150+6773dupTTTTTTTTTTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLK_chr10_103962140_104034233	103992141	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(105): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03669.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0013 a0014	a0001c0001 a0001c0014 a0001c0017 others(4): Show a0001c0001 a0001c0014 a0001c0017 a0003c0003 a0006c0009 a0013c0016 a0014c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0014t0001 a0001c0017t0001 a0003c0003t0001 a0006c0009t0001 a0013c0016t0001 a0014c0019t0004	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0197 others(102): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0255 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0299 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0004g0312 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0325 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0007g0106 a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0008g0346 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0008g0349 a0001c0001t0008g0350 a0001c0001t0008g0351 a0001c0001t0011g0114 a0001c0001t0014g0012 a0001c0001t0015g0249 a0001c0001t0015g0261 a0001c0001t0016g0270 a0001c0001t0021g0322 a0001c0001t0022g0283 a0001c0001t0023g0198 a0001c0001t0025g0256 a0001c0001t0027g0344 a0001c0001t0029g0222 a0001c0014t0001g0230 a0001c0017t0001g0239 a0003c0003t0001g0160 a0006c0009t0001g0311 a0013c0016t0001g0291 a0014c0019t0004g0292	108	376	0.2872	11	c.316 others(26): Show c.316-449_316-439dupTTTTTTTTTTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLMAP_chr3_57751309_57935003	57853954	A A	AATTATAT others(4): Show AATTATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04204.hp2 NA18940.hp1 others(1): Show HG03688.hp2 HG04204.hp2 NA18940.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0020 a0001c0002t0001 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001	a0001c0001t0004g0075 a0001c0001t0020g0099 a0001c0002t0001g0225 others(1): Show a0001c0001t0004g0075 a0001c0001t0020g0099 a0001c0002t0001g0225 a0001c0002t0001g0249	4	310	0.0129	11	c.520 others(28): Show c.520-3779_520-3778insATTATATATAT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24			chr3	TogoVar
SLMAP_chr3_57751309_57935003	57853954	A A	AATTTTAT others(4): Show AATTTTATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0300	1	310	0.0032	11	c.520 others(28): Show c.520-3779_520-3778insATTTTATATAT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24			chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869645	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	310	0.0032	11	c.123 others(30): Show c.1238-1990_1238-1980dupATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57904121	T T	TAGTTATA others(4): Show TAGTTATAATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02886.hp1 others(1): Show HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0301 a0001c0001t0010g0302 others(1): Show a0001c0001t0010g0300 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0303	4	310	0.0129	11	c.150 others(30): Show c.1502-3763_1502-3762insAGTTATAATAA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24			chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(4): Show CTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0305 a0001c0001t0033g0305	1	310	0.0032	11	c.150 others(30): Show c.1502-1576_1502-1575insCTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258285	T T	TAGATTAG others(4): Show TAGATTAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	11	c.-37 others(22): Show c.-3743_-3742insCTATCTAATCT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3722		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258285	T T	TTAGATAG others(4): Show TTAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01496.hp1 others(19): Show HG01099.hp2 HG01256.hp2 HG01496.hp1 HG02015.hp2 HG02040.hp1 HG02257.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03209.hp2 HG03654.hp1 HG04228.hp2 NA18944.hp2 NA18952.hp2 NA18988.hp1 NA19001.hp1 NA19057.hp2 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018	22	398	0.0553	11	c.-37 others(22): Show c.-3743_-3742insCTATCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3722		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(4): Show AGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	398	0.0025	11	c.-37 others(22): Show c.-3746_-3745insATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLTM_chr15_58874050_58938679	58875334	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0007t0002 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(167): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0110 a0001c0003t0002g0306 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0007t0002g0279 a0001c0009t0001g0259 a0002c0008t0001g0212	177	386	0.4586	11	c.46 others(22): Show c.4654_*4664dupTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding		3715		chr15	TogoVar
SLURP1_chr8_142735949_142747406	142747166	G G	GGATGGAT others(4): Show GGATGGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	11	c.-47 others(22): Show c.-4782_-4781insATCCATCCATC	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		4761		chr8	TogoVar
SLX4IP_chr20_10430305_10633030	10493859	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	266	0.0038	11	c.27+ others(28): Show c.27+35640_27+35650dupTTTTTTTTTTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4_chr16_3576181_3616606	3598376	C C	CTCCTTAC others(4): Show CTCCTTACACGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0036 a0036	a0036c0058 a0036c0058	a0036c0058t0001 a0036c0058t0001	a0036c0058t0001g0279 a0036c0058t0001g0279	1	396	0.0025	11	c.116 others(28): Show c.1164-388_1164-378dupCCGTGTAAGGA	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding	5/14			chr16	TogoVar
SLX4_chr16_3576181_3616606	3613908	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA21309.hp1 HG03130.hp2 NA21309.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0006 a0007c0008t0018 a0007c0008t0006 a0007c0008t0018	a0007c0008t0006g0065 a0007c0008t0018g0066 a0007c0008t0006g0065 a0007c0008t0018g0066	2	396	0.0051	11	c.-29 others(22): Show c.-2962_-2952dupAAAAAAAAAAA	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding		2303		chr16	TogoVar
SLX9_chr21_44935029_44981973	44978372	A A	AGCGCGTG others(4): Show AGCGCGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	334	0.0030	11	c.15 others(22): Show c.1569_*1570insGCGCGTGTGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1400		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978398	C C	CGTGTGGA others(4): Show CGTGTGGAGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01884.hp2 HG01975.hp1 others(20): Show HG00673.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG02071.hp1 HG02145.hp2 HG02451.hp2 HG02897.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03669.hp1 HG03710.hp1 NA18906.hp1 NA18973.hp1 NA18983.hp2 NA18998.hp1 NA19002.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0145 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0003c0003t0001g0029	23	334	0.0689	11	c.15 others(22): Show c.1595_*1596insGTGTGGAGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1426		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978416	A A	AACGTGTG others(4): Show AACGTGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	334	0.0030	11	c.16 others(22): Show c.1613_*1614insACGTGTGTGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1444		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978519	G G	GGTGTGGG others(4): Show GGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	334	0.0030	11	c.17 others(22): Show c.1716_*1717insGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1547		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978530	C C	CGTGTGGG others(4): Show CGTGTGGGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01975.hp1 others(7): Show HG00099.hp1 HG00673.hp2 HG01975.hp1 HG02071.hp1 HG03710.hp1 NA18973.hp1 NA18983.hp2 NA18998.hp1 NA19002.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0190 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199	10	334	0.0299	11	c.17 others(22): Show c.1727_*1728insGTGTGGGGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1558		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978539	C C	CGGGTGTG others(4): Show CGGGTGTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	334	0.0030	11	c.17 others(22): Show c.1736_*1737insGGGTGTGGGGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1567		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978541	G G	GGTGTGGG others(4): Show GGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01978.hp1 HG03942.hp2 others(2): Show HG01109.hp1 HG01978.hp1 HG03942.hp2 NA19030.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0203	5	334	0.0150	11	c.17 others(22): Show c.1738_*1739insGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1569		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978552	C C	CGTGTGGG others(4): Show CGTGTGGGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01346.hp1 HG00609.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0192 a0001c0001t0001g0011 a0001c0001t0001g0192	2	334	0.0060	11	c.17 others(22): Show c.1749_*1750insGTGTGGGGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1580		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978563	G G	GGTGTGGG others(4): Show GGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03669.hp1 HG03471.hp1 HG03486.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0179 a0001c0001t0001g0030 a0001c0001t0001g0179	3	334	0.0090	11	c.17 others(22): Show c.1760_*1761insGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1591		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978625	A A	AACGTGTG others(4): Show AACGTGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01346.hp1 others(8): Show HG00438.hp2 HG00609.hp2 HG01346.hp1 HG02559.hp2 HG02723.hp1 HG03516.hp1 NA18956.hp1 NA18957.hp1 NA18989.hp2 NA19043.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0040 a0001c0001t0001g0187 a0001c0001t0001g0191 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0226 a0003c0003t0001g0029 a0003c0003t0001g0052 a0003c0003t0001g0130 a0003c0003t0001g0131	11	334	0.0329	11	c.18 others(22): Show c.1822_*1823insACGTGTGTGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1653		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978772	C C	CGTGTGGA others(4): Show CGTGTGGAACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	334	0.0060	11	c.19 others(22): Show c.1969_*1970insGTGTGGAACGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1800		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978783	C C	CGTGTGGG others(4): Show CGTGTGGGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02074.hp2 NA18949.hp2 HG00621.hp2 HG02074.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0168 a0001c0001t0001g0003 a0001c0001t0001g0168	3	334	0.0090	11	c.19 others(22): Show c.1980_*1981insGTGTGGGGCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1811		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978794	G G	GGTGTGGG others(4): Show GGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	334	0.0060	11	c.19 others(22): Show c.1991_*1992insGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1822		chr21	TogoVar
SMAD1_chr4_145476853_145564176	145522094	T T	TGAGGAGA others(4): Show TGAGGAGATTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(5): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02717.hp2 HG02895.hp1 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0020 a0001c0002t0012 a0001c0002t0033 others(1): Show a0001c0001t0020 a0001c0002t0012 a0001c0002t0033 a0001c0003t0012	a0001c0001t0020g0077 a0001c0001t0020g0153 a0001c0002t0012g0050 others(5): Show a0001c0001t0020g0077 a0001c0001t0020g0153 a0001c0002t0012g0050 a0001c0002t0012g0069 a0001c0002t0012g0143 a0001c0002t0033g0075 a0001c0003t0012g0072 a0001c0003t0012g0144	8	308	0.0260	11	c.400 others(28): Show c.400+7083_400+7084insGGAGATTGAGA	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47813711	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01106.hp1 others(42): Show HG00423.hp2 HG00558.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG02040.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18972.hp2 NA18973.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19060.hp2 NA19070.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 others(37): Show a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0031 a0001c0001t0046 a0001c0001t0072 a0001c0001t0079 a0001c0001t0082 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0094 a0001c0001t0108 a0001c0001t0118 a0001c0001t0119 a0001c0001t0129 a0001c0001t0131 a0001c0001t0196 a0001c0001t0204 a0001c0001t0207 a0001c0001t0209 a0001c0001t0210 a0001c0001t0212 a0001c0001t0213 a0001c0001t0217 a0001c0001t0218 a0001c0001t0220 a0001c0001t0225 a0001c0001t0233 a0001c0001t0234 a0001c0001t0237 a0001c0001t0238 a0001c0001t0240 a0001c0001t0243 a0001c0001t0246 a0002c0003t0101	a0001c0001t0016g0112 a0001c0001t0016g0209 a0001c0001t0017g0208 others(42): Show a0001c0001t0016g0112 a0001c0001t0016g0209 a0001c0001t0017g0208 a0001c0001t0017g0265 a0001c0001t0018g0204 a0001c0001t0018g0207 a0001c0001t0020g0191 a0001c0001t0020g0192 a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0031g0002 a0001c0001t0046g0196 a0001c0001t0072g0259 a0001c0001t0079g0247 a0001c0001t0082g0296 a0001c0001t0085g0241 a0001c0001t0087g0214 a0001c0001t0088g0232 a0001c0001t0090g0248 a0001c0001t0091g0210 a0001c0001t0094g0004 a0001c0001t0108g0217 a0001c0001t0118g0203 a0001c0001t0119g0297 a0001c0001t0129g0190 a0001c0001t0131g0212 a0001c0001t0196g0006 a0001c0001t0204g0295 a0001c0001t0207g0118 a0001c0001t0209g0121 a0001c0001t0210g0294 a0001c0001t0212g0167 a0001c0001t0213g0128 a0001c0001t0217g0131 a0001c0001t0218g0171 a0001c0001t0220g0151 a0001c0001t0225g0152 a0001c0001t0233g0168 a0001c0001t0234g0172 a0001c0001t0237g0143 a0001c0001t0238g0165 a0001c0001t0240g0163 a0001c0001t0243g0011 a0001c0001t0246g0126 a0002c0003t0101g0194	45	310	0.1452	11	c.28 others(24): Show c.28105_*28115dupAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	28115		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850239	T T	TTATATAT others(4): Show TTATATATTATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03239.hp2 HG00323.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0045 a0001c0001t0044 a0001c0001t0045	a0001c0001t0044g0256 a0001c0001t0045g0250 a0001c0001t0044g0256 a0001c0001t0045g0250	2	310	0.0065	11	c.784 others(28): Show c.784+1024_784+1034dupTATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850271	T T	TTATATAT others(4): Show TTATATATTATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	310	0.0032	11	c.784 others(27): Show c.784+992_784+1002dupTATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTTTATAT others(4): Show TTTTATATATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20805.hp1 HG00642.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0086 a0001c0001t0014 a0001c0001t0086	a0001c0001t0014g0115 a0001c0001t0086g0116 a0001c0001t0014g0115 a0001c0001t0086g0116	2	310	0.0065	11	c.784 others(26): Show c.784+877_784+878insTAATATATAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850419	T T	TTATATAT others(4): Show TTATATATTATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0240 a0001c0001t0058g0240	1	310	0.0032	11	c.784 others(26): Show c.784+854_784+855insTATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850451	T T	TTTTATAT others(4): Show TTTTATATATTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18942.hp1 NA18945.hp2 others(2): Show HG01358.hp1 NA18942.hp1 NA18945.hp2 NA18983.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0216 a0001c0001t0220 others(1): Show a0001c0001t0027 a0001c0001t0216 a0001c0001t0220 a0001c0001t0237	a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0216g0157 others(2): Show a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0216g0157 a0001c0001t0220g0151 a0001c0001t0237g0143	5	310	0.0161	11	c.784 others(26): Show c.784+822_784+823insTAATATATAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850660	A A	ATATATAT others(4): Show ATATATATTATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0242 a0001c0001t0242	a0001c0001t0242g0160 a0001c0001t0242g0160	1	310	0.0032	11	c.784 others(26): Show c.784+613_784+614insCATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850703	A A	ATATATAT others(4): Show ATATATATTATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0227 a0001c0001t0227	a0001c0001t0227g0166 a0001c0001t0227g0166	1	310	0.0032	11	c.784 others(26): Show c.784+570_784+571insCATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850751	T T	TATTATGT others(4): Show TATTATGTATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01358.hp1 HG01943.hp1 others(20): Show HG00544.hp1 HG01358.hp1 HG01943.hp1 HG02071.hp2 HG02148.hp2 HG02300.hp1 HG04115.hp2 HG04228.hp1 NA18942.hp1 NA18945.hp2 NA18954.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA19004.hp2 NA19005.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0027 others(16): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0220 a0001c0001t0221 a0001c0001t0222 a0001c0001t0223 a0001c0001t0227 a0001c0001t0230 a0001c0001t0233 a0001c0001t0237 a0001c0001t0240	a0001c0001t0003g0140 a0001c0001t0003g0149 a0001c0001t0010g0124 others(20): Show a0001c0001t0003g0140 a0001c0001t0003g0149 a0001c0001t0010g0124 a0001c0001t0010g0145 a0001c0001t0010g0162 a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0028g0138 a0001c0001t0031g0002 a0001c0001t0212g0167 a0001c0001t0213g0128 a0001c0001t0214g0123 a0001c0001t0215g0144 a0001c0001t0216g0157 a0001c0001t0220g0151 a0001c0001t0221g0127 a0001c0001t0222g0169 a0001c0001t0223g0155 a0001c0001t0227g0166 a0001c0001t0230g0153 a0001c0001t0233g0168 a0001c0001t0237g0143 a0001c0001t0240g0163	23	310	0.0742	11	c.784 others(26): Show c.784+522_784+523insTTATACATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850787	T T	TTATATAT others(4): Show TTATATATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(101): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(84): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0130 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0210 a0001c0001t0255 a0001c0001t0257	a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0257 others(101): Show a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0005g0260 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0006g0219 a0001c0001t0006g0224 a0001c0001t0011g0223 a0001c0001t0011g0230 a0001c0001t0012g0239 a0001c0001t0012g0243 a0001c0001t0013g0177 a0001c0001t0013g0286 a0001c0001t0014g0115 a0001c0001t0014g0276 a0001c0001t0015g0216 a0001c0001t0016g0112 a0001c0001t0016g0209 a0001c0001t0018g0204 a0001c0001t0018g0207 a0001c0001t0020g0191 a0001c0001t0020g0192 a0001c0001t0033g0262 a0001c0001t0034g0258 a0001c0001t0042g0254 a0001c0001t0043g0255 a0001c0001t0044g0256 a0001c0001t0045g0250 a0001c0001t0046g0196 a0001c0001t0047g0222 a0001c0001t0051g0290 a0001c0001t0052g0277 a0001c0001t0053g0085 a0001c0001t0054g0274 a0001c0001t0055g0275 a0001c0001t0056g0242 a0001c0001t0057g0246 a0001c0001t0059g0264 a0001c0001t0060g0238 a0001c0001t0061g0268 a0001c0001t0062g0234 a0001c0001t0063g0249 a0001c0001t0064g0285 a0001c0001t0065g0197 a0001c0001t0066g0199 a0001c0001t0067g0280 a0001c0001t0068g0261 a0001c0001t0069g0298 a0001c0001t0070g0202 a0001c0001t0071g0273 a0001c0001t0072g0259 a0001c0001t0073g0293 a0001c0001t0074g0200 a0001c0001t0075g0288 a0001c0001t0076g0289 a0001c0001t0077g0253 a0001c0001t0078g0272 a0001c0001t0079g0247 a0001c0001t0080g0287 a0001c0001t0081g0291 a0001c0001t0082g0296 a0001c0001t0083g0178 a0001c0001t0084g0270 a0001c0001t0085g0241 a0001c0001t0086g0116 a0001c0001t0087g0214 a0001c0001t0088g0232 a0001c0001t0089g0228 a0001c0001t0090g0248 a0001c0001t0093g0235 a0001c0001t0094g0004 a0001c0001t0095g0176 a0001c0001t0096g0229 a0001c0001t0099g0221 a0001c0001t0100g0299 a0001c0001t0102g0193 a0001c0001t0103g0227 a0001c0001t0107g0236 a0001c0001t0108g0217 a0001c0001t0109g0226 a0001c0001t0110g0231 a0001c0001t0111g0205 a0001c0001t0117g0281 a0001c0001t0118g0203 a0001c0001t0120g0189 a0001c0001t0121g0292 a0001c0001t0124g0201 a0001c0001t0125g0283 a0001c0001t0126g0279 a0001c0001t0127g0271 a0001c0001t0129g0190 a0001c0001t0130g0244 a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 a0001c0001t0210g0294 a0001c0001t0255g0096 a0001c0001t0257g0309	104	310	0.3355	11	c.784 others(26): Show c.784+476_784+486dupTATAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850796	A A	ATATATAT others(4): Show ATATATATATTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18942.hp2 NA18954.hp2 others(2): Show HG02040.hp2 NA18942.hp2 NA18954.hp2 NA18968.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0112 a0001c0001t0113 others(1): Show a0001c0001t0019 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114	a0001c0001t0019g0183 a0001c0001t0019g0187 a0001c0001t0112g0179 others(2): Show a0001c0001t0019g0183 a0001c0001t0019g0187 a0001c0001t0112g0179 a0001c0001t0113g0184 a0001c0001t0114g0180	5	310	0.0161	11	c.784 others(26): Show c.784+477_784+478insCAATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850801	T T	TATATTAT others(4): Show TATATTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03041.hp2 HG00099.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0175 a0001c0001t0024 a0001c0001t0175	a0001c0001t0024g0069 a0001c0001t0175g0307 a0001c0001t0024g0069 a0001c0001t0175g0307	2	310	0.0065	11	c.784 others(26): Show c.784+472_784+473insGTATATAATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar

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