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
SLMAP_chr3_57751309_57935003	57885771	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	310	0.0032	-10	c.130 others(29): Show c.1301-4249_1301-4240delTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57897190	TTTGTTTA others(3): Show TTTGTTTACCC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0115	1	310	0.0032	-10	c.150 others(27): Show c.1501+263_1501+272delTTACCCTTGT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906674	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02615.hp1 HG02886.hp2 HG01934.hp1 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0005 a0001c0001t0016g0006 a0001c0001t0016g0007 a0001c0001t0016g0005 a0001c0001t0016g0006 a0001c0001t0016g0007	3	310	0.0097	-10	c.150 others(29): Show c.1502-1192_1502-1183delTATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLN_chr11_107702378_107717056	107705830	AACACACA others(3): Show AACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-10	c.19 others(21): Show c.1995_*2004delGTGTGTGTGT	SLN	ENSG00000170290.4	transcript	ENST00000305991.3	protein_coding		1547		chr11	TogoVar
SLTM_chr15_58874050_58938679	58886218	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00738.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0007t0002	a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0001g0090 others(90): Show a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0002t0001g0064 a0001c0003t0002g0306 a0001c0003t0002g0319 a0001c0007t0002g0279	96	386	0.2487	-10	c.283 others(27): Show c.2835+747_2835+756delACACACACAC	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	19/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58908002	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19077.hp2 NA18942.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	386	0.0052	-10	c.561 others(27): Show c.561+4551_561+4560delACACACACAC	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	5/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10431527	AAAACCAA others(3): Show AAAACCAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00609.hp2 others(71): Show HG00323.hp2 HG00438.hp2 HG00609.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18954.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA19002.hp1 NA19005.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0053 a0001c0001t0056 a0001c0008t0007 a0002c0002t0005 a0004c0004t0027 a0005c0005t0016	a0001c0001t0001g0107 a0001c0001t0001g0145 a0001c0001t0001g0152 others(71): Show a0001c0001t0001g0107 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0266 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0118 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0234 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0123 a0001c0001t0003g0162 a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0076 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0007g0079 a0001c0001t0008g0073 a0001c0001t0008g0090 a0001c0001t0008g0102 a0001c0001t0008g0170 a0001c0001t0008g0212 a0001c0001t0009g0161 a0001c0001t0010g0101 a0001c0001t0010g0148 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0011g0153 a0001c0001t0011g0163 a0001c0001t0012g0058 a0001c0001t0012g0241 a0001c0001t0013g0061 a0001c0001t0013g0064 a0001c0001t0013g0075 a0001c0001t0015g0092 a0001c0001t0017g0097 a0001c0001t0017g0098 a0001c0001t0018g0142 a0001c0001t0020g0167 a0001c0001t0020g0168 a0001c0001t0021g0063 a0001c0001t0021g0096 a0001c0001t0023g0066 a0001c0001t0030g0082 a0001c0001t0031g0069 a0001c0001t0036g0144 a0001c0001t0038g0080 a0001c0001t0039g0157 a0001c0001t0043g0103 a0001c0001t0045g0085 a0001c0001t0047g0255 a0001c0001t0053g0100 a0001c0001t0056g0099 a0001c0008t0007g0013 a0002c0002t0005g0032 a0002c0002t0005g0078 a0002c0002t0005g0112 a0002c0002t0005g0116 a0002c0002t0005g0137 a0004c0004t0027g0074 a0005c0005t0016g0250 a0005c0005t0016g0254	74	266	0.2782	-10	c.-39 others(21): Show c.-3955_-3946delAAACCAAACC	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding		3777		chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10473275	AGCAACTA others(3): Show AGCAACTAAGG	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0187 a0001c0001t0029g0187	1	266	0.0038	-10	c.27+ others(27): Show c.27+15048_27+15057delACTAAGGGCA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10512776	CTCTATAT others(3): Show CTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp2 HG01081.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0063 a0001c0001t0022 a0001c0001t0063	a0001c0001t0022g0231 a0001c0001t0063g0041 a0001c0001t0022g0231 a0001c0001t0063g0041	2	266	0.0075	-10	c.28- others(27): Show c.28-43453_28-43444delCTATATATAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10512778	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	266	0.0038	-10	c.28- others(27): Show c.28-43418_28-43409delTATATATATA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10566283	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01255.hp1 others(3): Show HG00639.hp1 HG01123.hp1 HG01255.hp1 HG01496.hp1 HG01975.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0059 a0001c0001t0002 a0001c0001t0014 a0001c0001t0059	a0001c0001t0002g0176 a0001c0001t0014g0002 a0001c0001t0014g0004 others(3): Show a0001c0001t0002g0176 a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0014g0010 a0001c0001t0014g0260 a0001c0001t0059g0221	6	266	0.0226	-10	c.238 others(27): Show c.238+5482_238+5491delTTTTTTTTTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10585546	CCCTTTCC others(3): Show CCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01255.hp1 others(3): Show HG00639.hp1 HG01123.hp1 HG01255.hp1 HG01496.hp1 HG01975.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0059 a0001c0001t0002 a0001c0001t0014 a0001c0001t0059	a0001c0001t0002g0176 a0001c0001t0014g0002 a0001c0001t0014g0004 others(3): Show a0001c0001t0002g0176 a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0014g0010 a0001c0001t0014g0260 a0001c0001t0059g0221	6	266	0.0226	-10	c.239 others(29): Show c.239-13113_239-13104delCCTTTCCTTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10608955	AAGTACCA others(3): Show AAGTACCAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01257.hp1 HG01258.hp1 others(9): Show HG01074.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01978.hp2 HG02004.hp2 HG02300.hp2 HG03669.hp1 HG03710.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0005 a0002c0002t0032 a0005c0005t0016 a0002c0002t0005 a0002c0002t0032 a0005c0005t0016	a0002c0002t0005g0028 a0002c0002t0005g0032 a0002c0002t0005g0078 others(9): Show a0002c0002t0005g0028 a0002c0002t0005g0032 a0002c0002t0005g0078 a0002c0002t0005g0112 a0002c0002t0005g0116 a0002c0002t0005g0137 a0002c0002t0005g0220 a0002c0002t0005g0245 a0002c0002t0032g0244 a0005c0005t0016g0243 a0005c0005t0016g0250 a0005c0005t0016g0254	12	266	0.0451	-10	c.405 others(27): Show c.405+7140_405+7149delACCAAAGAGT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4_chr16_3576181_3616606	3579175	ACCCAGCC others(3): Show ACCCAGCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	-10	c.31 others(21): Show c.3157_*3166delCTGGGCTGGG	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding		2005		chr16	TogoVar
SLX4_chr16_3576181_3616606	3601901	GAATATCC others(3): Show GAATATCCCAA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	396	0.0025	-10	c.950 others(25): Show c.950+207_950+216delTTGGGATATT	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding	4/14			chr16	TogoVar
SLX4_chr16_3576181_3616606	3613907	AATTTTTT others(3): Show AATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0028 a0003c0004t0001g0028	1	396	0.0025	-10	c.-29 others(21): Show c.-2960_-2951delAAAAAAAAAT	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding		2302		chr16	TogoVar
SLX4_chr16_3576181_3616606	3613908	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01952.hp1 HG02056.hp2 others(12): Show HG00621.hp2 HG01952.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp2 NA18967.hp1 NA18982.hp1 NA18989.hp2 NA19064.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0029 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0029t0001 a0003c0004t0001	a0001c0001t0001g0259 a0001c0002t0001g0032 a0001c0003t0001g0015 others(9): Show a0001c0001t0001g0259 a0001c0002t0001g0032 a0001c0003t0001g0015 a0001c0003t0001g0254 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0029t0001g0255 a0003c0004t0001g0028 a0003c0004t0001g0030 a0003c0004t0001g0134 a0003c0004t0001g0135	15	396	0.0379	-10	c.-29 others(21): Show c.-2961_-2952delAAAAAAAAAA	SLX4	ENSG00000188827.12	transcript	ENST00000294008.4	protein_coding		2303		chr16	TogoVar
SLX9_chr21_44935029_44981973	44978392	GGGGCGCG others(3): Show GGGGCGCGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA18955.hp2 HG04204.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0151 a0001c0001t0001g0037 a0001c0001t0001g0151	2	334	0.0060	-10	c.15 others(21): Show c.1590_*1599delGGGCGCGTGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1420		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978397	GCGTGTGG others(3): Show GCGTGTGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	334	0.0030	-10	c.15 others(21): Show c.1595_*1604delCGTGTGGGGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1425		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978507	GCGTGTGG others(3): Show GCGTGTGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	334	0.0030	-10	c.17 others(21): Show c.1705_*1714delCGTGTGGGGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1535		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978557	GGGGCGGG others(3): Show GGGGCGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0217	1	334	0.0030	-10	c.17 others(21): Show c.1755_*1764delGGGCGGGTGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1585		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978618	CGTGTGGA others(3): Show CGTGTGGAGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	334	0.0030	-10	c.18 others(21): Show c.1816_*1825delGTGTGGAGCG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1646		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978731	GTGGGGCG others(3): Show GTGGGGCGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	334	0.0030	-10	c.19 others(21): Show c.1929_*1938delTGGGGCGGGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1759		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978740	GTGTGGGG others(3): Show GTGTGGGGCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	334	0.0030	-10	c.19 others(21): Show c.1938_*1947delTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1768		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978741	TGTGGGGC others(3): Show TGTGGGGCGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	334	0.0030	-10	c.19 others(21): Show c.1939_*1948delGTGGGGCGCG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1769		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978744	GGGGCGCG others(3): Show GGGGCGCGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	334	0.0030	-10	c.19 others(21): Show c.1942_*1951delGGGCGCGTGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1772		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978749	GCGTGTGG others(3): Show GCGTGTGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	334	0.0030	-10	c.19 others(21): Show c.1947_*1956delCGTGTGGGGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1777		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978804	GGGTGTGG others(3): Show GGGTGTGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	334	0.0030	-10	c.20 others(21): Show c.2002_*2011delGGTGTGGGGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1832		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981963	ACGGGGGA others(3): Show ACGGGGGACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG03471.hp1 HG03486.hp2 others(1): Show HG02523.hp2 HG03471.hp1 HG03486.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0173 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0173	4	334	0.0120	-10	c.51 others(21): Show c.5161_*5170delCGGGGGACAG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4991		chr21	TogoVar
SMAD1_chr4_145476853_145564176	145477975	ATATATAT others(3): Show ATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0041 a0001c0001t0011g0040 a0001c0001t0011g0041	2	308	0.0065	-10	c.-42 others(21): Show c.-4239_-4230delTATATATTTT	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding		3877		chr4	TogoVar
SMAD1_chr4_145476853_145564176	145488476	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0050 a0001c0002t0012g0050	1	308	0.0033	-10	c.-17 others(29): Show c.-177+6457_-177+6466delTGTGTGTGTG	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD1_chr4_145476853_145564176	145515134	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02145.hp1 HG02257.hp2 others(1): Show HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0012 a0001c0001t0005 a0001c0002t0012	a0001c0001t0005g0046 a0001c0002t0012g0050 a0001c0002t0012g0069 others(1): Show a0001c0001t0005g0046 a0001c0002t0012g0050 a0001c0002t0012g0069 a0001c0002t0012g0143	4	308	0.0130	-10	c.400 others(25): Show c.400+155_400+164delGTGTGTGTGT	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD1_chr4_145476853_145564176	145528084	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02135.hp2 NA18964.hp2 others(4): Show HG00438.hp1 HG02135.hp2 NA18964.hp2 NA18979.hp2 NA18988.hp1 NA19010.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0035 others(4): Show a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0035 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0049 a0001c0001t0005g0106	7	308	0.0227	-10	c.401 others(29): Show c.401-11708_401-11699delCACACACATA	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47820896	TACACACA others(3): Show TACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG02055.hp2 HG02717.hp1 others(2): Show HG00735.hp1 HG02055.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0136 a0001c0001t0243 others(1): Show a0001c0001t0026 a0001c0001t0136 a0001c0001t0243 a0001c0001t0245	a0001c0001t0026g0110 a0001c0001t0026g0111 a0001c0001t0136g0100 others(2): Show a0001c0001t0026g0110 a0001c0001t0026g0111 a0001c0001t0136g0100 a0001c0001t0243g0011 a0001c0001t0245g0007	5	310	0.0161	-10	c.20 others(23): Show c.20921_*20930delGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	20921		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47847700	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0216 a0001c0001t0015g0216	1	310	0.0032	-10	c.997 others(25): Show c.997+765_997+774delTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	8/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47849436	GAAATAGG others(3): Show GAAATAGGGTA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0196 a0001c0001t0046g0196	1	310	0.0032	-10	c.785 others(25): Show c.785-759_785-750delTACCCTATTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850243	ATATTATA others(3): Show ATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02486.hp1 others(5): Show HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG03139.hp1 HG03516.hp2 HG03927.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 others(5): Show a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 a0001c0002t0251 a0001c0002t0252 a0001c0002t0253 a0001c0002t0254	a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 others(5): Show a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 a0001c0002t0251g0305 a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016	8	310	0.0258	-10	c.784 others(27): Show c.784+1021_784+1030delATATATAATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03704.hp2 HG03490.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0061 a0001c0001t0001 a0001c0001t0061	a0001c0001t0001g0257 a0001c0001t0061g0268 a0001c0001t0001g0257 a0001c0001t0061g0268	2	310	0.0065	-10	c.237 others(29): Show c.237-11487_237-11478delAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47885132	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01168.hp1 others(35): Show HG00140.hp1 HG00642.hp2 HG01168.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02896.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03688.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18988.hp1 NA19005.hp1 NA19009.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(32): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0096 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0111 a0001c0001t0118 a0001c0001t0119 a0001c0001t0126 a0001c0001t0179 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0211 a0001c0001t0217 a0001c0001t0236 a0001c0001t0240	a0001c0001t0001g0206 a0001c0001t0001g0266 a0001c0001t0001g0267 others(35): Show a0001c0001t0001g0206 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0011g0223 a0001c0001t0011g0230 a0001c0001t0015g0216 a0001c0001t0016g0209 a0001c0001t0017g0208 a0001c0001t0018g0204 a0001c0001t0038g0031 a0001c0001t0046g0196 a0001c0001t0047g0222 a0001c0001t0051g0290 a0001c0001t0086g0116 a0001c0001t0089g0228 a0001c0001t0090g0248 a0001c0001t0091g0210 a0001c0001t0092g0284 a0001c0001t0094g0004 a0001c0001t0096g0229 a0001c0001t0099g0221 a0001c0001t0100g0299 a0001c0001t0101g0194 a0001c0001t0102g0193 a0001c0001t0111g0205 a0001c0001t0118g0203 a0001c0001t0119g0297 a0001c0001t0126g0279 a0001c0001t0179g0070 a0001c0001t0205g0120 a0001c0001t0206g0117 a0001c0001t0207g0118 a0001c0001t0208g0119 a0001c0001t0209g0121 a0001c0001t0211g0008 a0001c0001t0217g0131 a0001c0001t0236g0159 a0001c0001t0240g0163	38	310	0.1226	-10	c.236 others(29): Show c.236+11379_236+11388delGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47916410	ATTTTGTT others(3): Show ATTTTGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0307 a0001c0001t0175g0307	1	310	0.0032	-10	c.-54 others(29): Show c.-54+13941_-54+13950delCAAAACAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	1/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47919469	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(82): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02897.hp2 HG02922.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 HG06807.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0061 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0094 a0001c0001t0095 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0108 a0001c0001t0118 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0127 a0001c0001t0129 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0139 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0153 a0001c0001t0156 a0001c0001t0157 a0001c0001t0163 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0001c0001t0178 a0001c0001t0187 a0001c0001t0194 a0001c0001t0195 a0001c0001t0198 a0001c0001t0234 a0001c0001t0235 a0001c0001t0257	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0257 others(82): Show a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0005g0260 a0001c0001t0005g0278 a0001c0001t0007g0097 a0001c0001t0014g0115 a0001c0001t0014g0276 a0001c0001t0015g0216 a0001c0001t0015g0218 a0001c0001t0017g0265 a0001c0001t0021g0056 a0001c0001t0021g0057 a0001c0001t0033g0262 a0001c0001t0034g0258 a0001c0001t0042g0254 a0001c0001t0043g0255 a0001c0001t0044g0256 a0001c0001t0045g0250 a0001c0001t0051g0290 a0001c0001t0052g0277 a0001c0001t0054g0274 a0001c0001t0055g0275 a0001c0001t0059g0264 a0001c0001t0061g0268 a0001c0001t0066g0199 a0001c0001t0068g0261 a0001c0001t0069g0298 a0001c0001t0070g0202 a0001c0001t0071g0273 a0001c0001t0072g0259 a0001c0001t0074g0200 a0001c0001t0077g0253 a0001c0001t0078g0272 a0001c0001t0083g0178 a0001c0001t0084g0270 a0001c0001t0086g0116 a0001c0001t0087g0214 a0001c0001t0094g0004 a0001c0001t0095g0176 a0001c0001t0101g0194 a0001c0001t0102g0193 a0001c0001t0104g0215 a0001c0001t0105g0302 a0001c0001t0108g0217 a0001c0001t0118g0203 a0001c0001t0122g0251 a0001c0001t0123g0252 a0001c0001t0124g0201 a0001c0001t0127g0271 a0001c0001t0129g0190 a0001c0001t0135g0045 a0001c0001t0136g0100 a0001c0001t0137g0099 a0001c0001t0139g0051 a0001c0001t0142g0050 a0001c0001t0143g0013 a0001c0001t0144g0053 a0001c0001t0153g0054 a0001c0001t0156g0104 a0001c0001t0157g0048 a0001c0001t0163g0105 a0001c0001t0165g0047 a0001c0001t0167g0012 a0001c0001t0168g0107 a0001c0001t0178g0106 a0001c0001t0187g0108 a0001c0001t0194g0010 a0001c0001t0195g0044 a0001c0001t0198g0080 a0001c0001t0234g0172 a0001c0001t0235g0173 a0001c0001t0257g0309	85	310	0.2742	-10	c.-54 others(29): Show c.-54+10882_-54+10891delGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	1/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67160770	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0060 a0001c0002t0008g0060	1	310	0.0032	-10	c.207 others(27): Show c.207-4092_207-4083delAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67163944	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02723.hp1 others(2): Show HG02109.hp1 HG02257.hp1 HG02723.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0040 a0001c0001t0003 a0001c0001t0038 a0001c0001t0040	a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0288 others(2): Show a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0288 a0001c0001t0038g0068 a0001c0001t0040g0052	5	310	0.0161	-10	c.207 others(25): Show c.207-935_207-926delAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67164316	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp2 HG01978.hp1 others(2): Show HG01515.hp1 HG01516.hp2 HG01978.hp1 HG03017.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0267 a0001c0001t0004g0132 a0001c0001t0004g0295 others(2): Show a0001c0001t0001g0267 a0001c0001t0004g0132 a0001c0001t0004g0295 a0001c0001t0009g0034 a0001c0001t0014g0164	5	310	0.0161	-10	c.207 others(25): Show c.207-559_207-550delAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182994	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	310	0.0032	-10	c.871 others(27): Show c.871+1543_871+1552delAAAAAATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182996	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18747.hp1 HG02148.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0048 a0001c0002t0024 a0001c0001t0048 a0001c0002t0024	a0001c0001t0048g0147 a0001c0002t0024g0241 a0001c0001t0048g0147 a0001c0002t0024g0241	2	310	0.0065	-10	c.871 others(27): Show c.871+1545_871+1554delAAAATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67196162	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(151): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0031 a0001c0001t0036 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0013 a0001c0002t0018 a0001c0002t0023 a0001c0002t0046 a0001c0002t0051 a0002c0003t0002	a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 others(151): Show a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0002g0007 a0001c0001t0002g0072 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0190 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0260 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0302 a0001c0001t0003g0004 a0001c0001t0003g0127 a0001c0001t0003g0135 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0278 a0001c0001t0003g0288 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0007g0056 a0001c0001t0007g0101 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0008g0053 a0001c0001t0008g0064 a0001c0001t0010g0116 a0001c0001t0010g0120 a0001c0001t0010g0258 a0001c0001t0010g0282 a0001c0001t0010g0306 a0001c0001t0013g0090 a0001c0001t0013g0177 a0001c0001t0013g0179 a0001c0001t0013g0206 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0014g0160 a0001c0001t0014g0162 a0001c0001t0015g0028 a0001c0001t0015g0047 a0001c0001t0016g0217 a0001c0001t0017g0021 a0001c0001t0018g0020 a0001c0001t0018g0066 a0001c0001t0020g0286 a0001c0001t0021g0152 a0001c0001t0021g0153 a0001c0001t0021g0158 a0001c0001t0023g0203 a0001c0001t0031g0074 a0001c0001t0031g0077 a0001c0001t0036g0054 a0001c0001t0039g0010 a0001c0001t0044g0193 a0001c0001t0045g0269 a0001c0001t0048g0147 a0001c0001t0049g0099 a0001c0001t0050g0227 a0001c0001t0052g0259 a0001c0001t0057g0202 a0001c0002t0001g0076 a0001c0002t0001g0102 a0001c0002t0001g0137 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0002g0240 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0301 a0001c0002t0003g0075 a0001c0002t0005g0030 a0001c0002t0005g0057 a0001c0002t0008g0060 a0001c0002t0013g0234 a0001c0002t0018g0009 a0001c0002t0023g0200 a0001c0002t0023g0204 a0001c0002t0046g0078 a0001c0002t0051g0176 a0002c0003t0002g0263	154	310	0.4968	-10	c.56 others(21): Show c.5627_*5636delAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding		994		chr15	TogoVar
SMAD4_chr18_51025213_51090042	51033186	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0134 a0001c0001t0048g0134	1	302	0.0033	-10	c.-12 others(29): Show c.-128+2575_-128+2584delTTTTTTTTTT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51039479	TCCCCCCC others(3): Show TCCCCCCCCCA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0125 a0001c0001t0042g0125	1	302	0.0033	-10	c.-12 others(29): Show c.-127-7433_-127-7424delCCACCCCCCC	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073382	TATATATA others(3): Show TATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0284 a0001c0001t0011g0284	1	302	0.0033	-10	c.130 others(29): Show c.1309-3254_1309-3245delTATATACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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