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
SIK3_chr11_116838402_117103428	116938538	AAGGGGAG others(3): Show AAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(52): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp1 NA18946.hp2 NA18951.hp1 NA19030.hp1 NA19068.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0005 a0004c0006 a0005c0007 a0006c0008 a0007c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0002t0005 a0001c0002t0028 a0001c0009t0001 a0002c0003t0001 a0002c0003t0007 a0002c0003t0008 a0002c0003t0009 a0002c0003t0025 a0003c0005t0005 a0004c0006t0008 a0005c0007t0010 a0006c0008t0013 a0007c0027t0008	a0001c0001t0001g0092 a0001c0001t0001g0171 a0001c0001t0001g0191 others(52): Show a0001c0001t0001g0092 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0238 a0001c0001t0001g0281 a0001c0001t0001g0360 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0273 a0001c0001t0004g0313 a0001c0001t0023g0093 a0001c0002t0005g0312 a0001c0002t0005g0339 a0001c0002t0005g0345 a0001c0002t0005g0350 a0001c0002t0028g0011 a0001c0009t0001g0209 a0002c0003t0001g0338 a0002c0003t0001g0341 a0002c0003t0001g0342 a0002c0003t0007g0310 a0002c0003t0007g0311 a0002c0003t0007g0314 a0002c0003t0007g0319 a0002c0003t0007g0320 a0002c0003t0007g0343 a0002c0003t0007g0352 a0002c0003t0007g0354 a0002c0003t0007g0358 a0002c0003t0008g0337 a0002c0003t0008g0355 a0002c0003t0009g0309 a0002c0003t0009g0315 a0002c0003t0009g0316 a0002c0003t0009g0324 a0002c0003t0009g0359 a0002c0003t0025g0322 a0003c0005t0005g0351 a0004c0006t0008g0344 a0004c0006t0008g0347 a0004c0006t0008g0348 a0004c0006t0008g0349 a0004c0006t0008g0361 a0005c0007t0010g0015 a0005c0007t0010g0038 a0005c0007t0010g0054 a0005c0007t0010g0060 a0006c0008t0013g0274 a0006c0008t0013g0277 a0007c0027t0008g0340	55	366	0.1503	-10	c.455 others(29): Show c.455-11168_455-11159delCCCCTCCCCT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938582	GGAGGAGA others(3): Show GGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02523.hp1 HG00597.hp1 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0006 a0001c0001t0004 a0002c0004t0006	a0001c0001t0004g0117 a0002c0004t0006g0364 a0001c0001t0004g0117 a0002c0004t0006g0364	2	366	0.0055	-10	c.455 others(29): Show c.455-11212_455-11203delTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938612	AGAGGGGA others(3): Show AGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp2 NA21309.hp2 HG02559.hp1 NA19043.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0005 a0003c0005t0005 a0001c0002t0005 a0003c0005t0005	a0001c0002t0005g0022 a0003c0005t0005g0018 a0003c0005t0005g0020 a0001c0002t0005g0022 a0003c0005t0005g0018 a0003c0005t0005g0020	3	366	0.0082	-10	c.455 others(29): Show c.455-11242_455-11233delCCCTCCCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938622	GGAGGAGA others(3): Show GGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp2 HG00738.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0051 a0001c0001t0024g0276 a0001c0001t0002g0051 a0001c0001t0024g0276	2	366	0.0055	-10	c.455 others(29): Show c.455-11252_455-11243delTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965734	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02523.hp2 HG03225.hp1 others(1): Show HG01928.hp2 HG02523.hp2 HG03225.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0201 a0001c0001t0001g0243 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0201 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0002t0005g0023	4	366	0.0109	-10	c.274 others(27): Show c.274-8680_274-8671delATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013899	AGGGGGGG others(3): Show AGGGGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0008 a0007c0027t0008	a0007c0027t0008g0340 a0007c0027t0008g0340	1	366	0.0027	-10	c.274 others(29): Show c.274-56845_274-56836delCCCCCCCCCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117022278	CAAATCTC others(3): Show CAAATCTCATT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01074.hp2 others(40): Show HG00323.hp2 HG00609.hp2 HG01074.hp2 HG01243.hp1 HG01261.hp2 HG01891.hp1 HG02040.hp1 HG02080.hp2 HG02129.hp1 HG02280.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02976.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG04199.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp2 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19072.hp1 NA19080.hp1 NA19087.hp1 NA19088.hp1	a0001 a0016 a0017 a0001 a0016 a0017	a0001c0001 a0016c0015 a0017c0022 a0001c0001 a0016c0015 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0001t0027 a0016c0015t0002 a0017c0022t0004	a0001c0001t0001g0047 a0001c0001t0002g0104 a0001c0001t0002g0105 others(40): Show a0001c0001t0001g0047 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0004g0046 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0121 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0258 a0001c0001t0026g0113 a0001c0001t0027g0136 a0016c0015t0002g0106 a0017c0022t0004g0125	43	366	0.1175	-10	c.274 others(29): Show c.274-65224_274-65215delAATGAGATTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117096536	CGACTTCC others(3): Show CGACTTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0167 a0001c0002t0005g0167	1	366	0.0027	-10	c.273 others(27): Show c.273+1597_273+1606delAGGGGAAGTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIKE1_chr1_114764479_114785685	114765216	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00741.hp2 others(13): Show HG00280.hp2 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02683.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0003t0005	a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0005g0013 others(2): Show a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0005g0013 a0001c0001t0019g0023 a0001c0003t0005g0020	16	358	0.0447	-10	c.90 others(21): Show c.9045_*9054delAAAAAAAAAA	SIKE1	ENSG00000052723.12	transcript	ENST00000060969.6	protein_coding		4262		chr1	TogoVar
SIL1_chr5_138941724_139203368	139028495	CACAAAAC others(3): Show CACAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG02258.hp1 others(26): Show HG01346.hp1 HG01891.hp1 HG02258.hp1 HG02559.hp2 HG02723.hp1 HG02895.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03486.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA19002.hp1 NA19003.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19081.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0006c0009 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0006t0001 a0006c0009t0001 a0008c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0002t0001g0025 a0001c0002t0001g0118 a0002c0003t0001g0134 a0002c0003t0001g0160 a0002c0006t0001g0097 a0006c0009t0001g0157 a0008c0011t0001g0196	29	200	0.1450	-10	c.454 others(27): Show c.454-1513_454-1504delTTTGTTTTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	5/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139098809	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0017	2	200	0.0100	-10	c.244 others(29): Show c.244+22216_244+22225delAAAAAAAAAA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143304	TATACACA others(3): Show TATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	200	0.0050	-10	c.-10 others(29): Show c.-10-15461_-10-15452delGTGTGTGTAT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143306	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	200	0.0050	-10	c.-10 others(29): Show c.-10-15463_-10-15454delGTGTGTGTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143336	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 NA19002.hp2 HG02970.hp1 HG03209.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0137 a0001c0002t0001g0144 a0001c0002t0001g0113 a0001c0002t0001g0137 a0001c0002t0001g0144	3	200	0.0150	-10	c.-10 others(29): Show c.-10-15493_-10-15484delATGTGTGTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139143338	CACACACA others(3): Show CACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp2 NA20129.hp1 HG03195.hp1 NA19240.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0009 a0001c0001 a0001c0005 a0006c0009	a0001c0001t0001 a0001c0005t0001 a0006c0009t0001 a0001c0001t0001 a0001c0005t0001 a0006c0009t0001	a0001c0001t0001g0149 a0001c0005t0001g0011 a0006c0009t0001g0157 a0001c0001t0001g0149 a0001c0005t0001g0011 a0006c0009t0001g0157	3	200	0.0150	-10	c.-10 others(29): Show c.-10-15495_-10-15486delATATGTGTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139145629	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG01258.hp1 others(17): Show HG01069.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG02109.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03710.hp2 NA18948.hp2 NA18959.hp1 NA18965.hp1 NA18966.hp1 NA19002.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0002c0006t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 others(17): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0147 a0001c0001t0002g0018 a0001c0001t0002g0140 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0006g0200 a0001c0002t0001g0070 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0123 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0193 a0002c0006t0001g0097 a0002c0006t0001g0103	20	200	0.1000	-10	c.-10 others(29): Show c.-10-17786_-10-17777delACACACACAC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139160143	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00735.hp1 others(56): Show HG00323.hp2 HG00423.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp2 NA19056.hp2 NA19063.hp2 NA20905.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0010t0001 a0009c0013t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(56): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0005g0199 a0001c0002t0001g0038 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0173 a0001c0010t0001g0064 a0009c0013t0001g0045	59	200	0.2950	-10	c.-10 others(29): Show c.-10-32300_-10-32291delTGTGTGTGTG	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139171722	TAAAAAAG others(3): Show TAAAAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG03041.hp2 others(2): Show HG01884.hp1 HG02145.hp2 HG03041.hp2 HG03195.hp2 HG03453.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0008c0011t0001 a0001c0001t0001 a0001c0002t0001 a0008c0011t0001	a0001c0001t0001g0030 a0001c0002t0001g0099 a0001c0002t0001g0101 others(2): Show a0001c0001t0001g0030 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0104 a0008c0011t0001g0196	5	200	0.0250	-10	c.-11 others(29): Show c.-11+26537_-11+26546delTTTCTTTTTT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100385669	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(38): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02257.hp2 HG02523.hp2 HG02572.hp2 HG03491.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18953.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA19030.hp2 NA19066.hp2 NA19072.hp2 NA19081.hp1 NA19083.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0003c0006	a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 others(8): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0031 a0001c0001t0035 a0001c0001t0064 a0001c0001t0075 a0001c0007t0004 a0001c0009t0033 a0002c0002t0014 a0003c0006t0004	a0001c0001t0004g0041 a0001c0001t0004g0095 a0001c0001t0004g0104 others(38): Show a0001c0001t0004g0041 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0128 a0001c0001t0004g0185 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0314 a0001c0001t0008g0026 a0001c0001t0008g0050 a0001c0001t0008g0070 a0001c0001t0008g0072 a0001c0001t0008g0077 a0001c0001t0008g0087 a0001c0001t0008g0102 a0001c0001t0008g0143 a0001c0001t0008g0209 a0001c0001t0008g0249 a0001c0001t0008g0282 a0001c0001t0018g0307 a0001c0001t0018g0311 a0001c0001t0031g0004 a0001c0001t0035g0008 a0001c0001t0064g0090 a0001c0001t0075g0179 a0001c0007t0004g0205 a0001c0009t0033g0005 a0002c0002t0014g0057 a0002c0002t0014g0269 a0002c0002t0014g0270 a0002c0002t0014g0272 a0003c0006t0004g0130	41	320	0.1281	-10	c.46 others(21): Show c.4682_*4691delCACACACACA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	12/12	4682		chr6	TogoVar
SIM1_chr6_100380009_100469921	100398951	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02071.hp1 HG02074.hp2 others(2): Show HG01261.hp2 HG02071.hp1 HG02074.hp2 NA18978.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0001 a0002c0002t0028 a0001c0001t0028 a0002c0002t0001 a0002c0002t0028	a0001c0001t0028g0254 a0002c0002t0001g0085 a0002c0002t0001g0274 others(2): Show a0001c0001t0028g0254 a0002c0002t0001g0085 a0002c0002t0001g0274 a0002c0002t0001g0292 a0002c0002t0028g0103	5	320	0.0156	-10	c.116 others(29): Show c.1168-5072_1168-5063delTACACACACA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100450692	TCTCTCAC others(3): Show TCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG01081.hp2 others(10): Show HG00423.hp2 HG00735.hp2 HG01081.hp2 HG01361.hp2 HG01496.hp2 HG01952.hp1 HG02027.hp2 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA19002.hp1 NA19065.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0001c0001t0052 a0001c0001t0054 a0001c0007t0004 a0002c0002t0001	a0001c0001t0002g0193 a0001c0001t0003g0201 a0001c0001t0004g0185 others(10): Show a0001c0001t0002g0193 a0001c0001t0003g0201 a0001c0001t0004g0185 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0026g0202 a0001c0001t0052g0296 a0001c0001t0054g0197 a0001c0007t0004g0205 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0241	13	320	0.0406	-10	c.259 others(25): Show c.259-346_259-337delTGTGTGAGAG	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	3/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100450694	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02602.hp2 HG03831.hp2 others(5): Show HG02165.hp2 HG02602.hp2 HG03831.hp2 HG04184.hp2 NA18939.hp1 NA18945.hp1 NA18971.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0047 a0002c0002t0001	a0001c0001t0002g0195 a0001c0001t0004g0207 a0001c0001t0004g0291 others(5): Show a0001c0001t0002g0195 a0001c0001t0004g0207 a0001c0001t0004g0291 a0001c0001t0005g0204 a0001c0001t0011g0290 a0001c0001t0047g0208 a0002c0002t0001g0192 a0002c0002t0001g0194	8	320	0.0250	-10	c.259 others(25): Show c.259-348_259-339delTGTGTGTGAG	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	3/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(3): Show TTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01167.hp1 others(16): Show HG00280.hp1 HG01074.hp1 HG01167.hp1 HG01175.hp2 HG02809.hp1 HG03239.hp1 HG03490.hp2 HG03516.hp2 HG04184.hp1 HG06807.hp1 NA18943.hp1 NA18979.hp2 NA18989.hp1 NA18995.hp1 NA19011.hp2 NA19063.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 a0001c0001t0028 a0001c0001t0036 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0061 a0001c0003t0030 a0002c0002t0001 a0002c0002t0017	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0003g0258 others(16): Show a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0003g0258 a0001c0001t0004g0314 a0001c0001t0005g0204 a0001c0001t0006g0161 a0001c0001t0008g0070 a0001c0001t0025g0256 a0001c0001t0028g0254 a0001c0001t0036g0305 a0001c0001t0043g0190 a0001c0001t0045g0253 a0001c0001t0046g0252 a0001c0001t0061g0302 a0001c0003t0030g0003 a0002c0002t0001g0069 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0017g0312	19	320	0.0594	-10	c.176 others(27): Show c.176-4172_176-4163delGAGAGAGAGA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36744428	GAAAGAAA others(3): Show GAAAGAAAAAC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0180 a0001c0001t0005g0180	1	410	0.0024	-10	c.116 others(27): Show c.1168-292_1168-283delAACAAAGAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIMC1_chr5_176233424_176350989	176246407	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02451.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	360	0.0056	-10	c.129 others(27): Show c.129+7803_129+7812delGTGTGTGTGT	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176287644	TTAAAAAT others(3): Show TTAAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01074.hp2 others(13): Show HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01243.hp2 HG02055.hp1 HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0005c0005t0001 a0001c0001t0001 a0001c0001t0004 a0005c0005t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 others(13): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0004g0151 a0005c0005t0001g0161 a0005c0005t0001g0162 a0005c0005t0001g0163 a0005c0005t0001g0164	16	360	0.0444	-10	c.130 others(27): Show c.130-1999_130-1990delTAAAAATAAA	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176331403	CAAAGCAA others(3): Show CAAAGCAATGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18975.hp2 HG02027.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0252 a0001c0001t0001g0253	2	360	0.0056	-10	c.217 others(29): Show c.2172-5308_2172-5299delGTAAAGCAAT	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIN3B_chr19_16824398_16885349	16857865	CTCTTTTC others(3): Show CTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02300.hp1 HG01074.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0254 a0001c0001t0002g0255	2	372	0.0054	-10	c.105 others(29): Show c.1058+3621_1058+3630delCTTTTCTTTT	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16868791	GGCTGGTG others(3): Show GGCTGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0092 a0001c0014t0002g0092	1	372	0.0027	-10	c.180 others(27): Show c.1807-657_1807-648delCTGGTGGGAG	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16874296	AGGTCTGG others(3): Show AGGTCTGGTCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02258.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0323 a0001c0001t0002g0113 a0001c0001t0002g0323	2	372	0.0054	-10	c.259 others(29): Show c.2593-1753_2593-1744delGGTCTGGTCT	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16874497	TTGATTTG others(3): Show TTGATTTGGTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	372	0.0027	-10	c.259 others(29): Show c.2593-1545_2593-1536delATTTGGTCTG	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16875552	TTGGTCTG others(3): Show TTGGTCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	372	0.0027	-10	c.259 others(27): Show c.2593-483_2593-474delCTGGTCTGGT	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16875668	TTGGTCTG others(3): Show TTGGTCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	372	0.0027	-10	c.259 others(27): Show c.2593-366_2593-357delTGGTCTGGTC	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SINHCAF_chr12_31275584_31331150	31312386	TTCTAGGA others(3): Show TTCTAGGAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01099.hp1 others(15): Show HG00140.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG01952.hp1 HG02280.hp2 HG02738.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG04115.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0235 others(13): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248	18	349	0.0516	-10	c.-21 others(29): Show c.-21+13628_-21+13637delTATTCCTAGA	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding	1/5			chr12	TogoVar
SIPA1L1_chr14_71315476_71746209	71371555	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01943.hp1 HG02155.hp2 others(8): Show HG00438.hp2 HG01943.hp1 HG02155.hp2 HG02615.hp1 HG02738.hp2 HG02818.hp2 HG03239.hp1 NA18612.hp1 NA18986.hp1 NA19058.hp2 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0006c0013t0002 a0001c0001t0001 a0001c0001t0002 a0006c0013t0002	a0001c0001t0001g0044 a0001c0001t0002g0016 a0001c0001t0002g0017 others(8): Show a0001c0001t0001g0044 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0063 a0006c0013t0002g0045	11	174	0.0632	-10	c.-46 others(31): Show c.-465+50390_-465+50399delTTTTGTTTTG	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71446896	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	174	0.0058	-10	c.-46 others(31): Show c.-464-65837_-464-65828delGTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71495904	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00597.hp2 others(23): Show HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01934.hp1 HG02257.hp2 HG02602.hp1 HG03834.hp2 HG04184.hp2 NA18522.hp1 NA18957.hp2 NA18960.hp1 NA18993.hp1 NA19001.hp1 NA19005.hp1 NA19007.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0008t0001 a0003c0005t0001	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 others(23): Show a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0002g0120 a0001c0002t0002g0139 a0001c0002t0006g0142 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0008t0001g0136 a0003c0005t0001g0165 a0003c0005t0001g0166	26	174	0.1494	-10	c.-46 others(31): Show c.-464-16836_-464-16827delAAAAAAAGAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71502249	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	174	0.0058	-10	c.-46 others(31): Show c.-464-10492_-464-10483delAAAAAATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71590021	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02976.hp2 NA18957.hp1 others(3): Show HG00597.hp1 HG02976.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0092 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0084 a0001c0001t0002g0089	6	174	0.0345	-10	c.149 others(27): Show c.1498+666_1498+675delAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71590036	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG03195.hp2 others(4): Show HG01433.hp1 HG02622.hp1 HG03195.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0145 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0005 a0001c0001t0002g0006	7	174	0.0402	-10	c.149 others(27): Show c.1498+668_1498+677delAAAAAAAATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71590038	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG03516.hp1 HG02647.hp2 HG03098.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0018 a0001c0001 a0004c0018	a0001c0001t0002 a0004c0018t0002 a0001c0001t0002 a0004c0018t0002	a0001c0001t0002g0004 a0001c0001t0002g0007 a0004c0018t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0004c0018t0002g0003	3	174	0.0172	-10	c.149 others(27): Show c.1498+670_1498+679delAAAAAATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71590042	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01943.hp1 HG02155.hp2 others(5): Show HG00438.hp2 HG01943.hp1 HG02155.hp2 HG02738.hp2 HG03239.hp1 HG03834.hp1 NA18965.hp1 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0011 a0007c0012 a0001c0001 a0001c0011 a0007c0012	a0001c0001t0002 a0001c0011t0001 a0007c0012t0002 a0001c0001t0002 a0001c0011t0001 a0007c0012t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 others(5): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0063 a0001c0011t0001g0119 a0007c0012t0002g0094	8	174	0.0460	-10	c.149 others(27): Show c.1498+674_1498+683delAATATATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71590044	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0164 a0005c0010t0002g0164	1	174	0.0058	-10	c.149 others(27): Show c.1498+697_1498+706delATATATATAT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71633150	ATGTTATG others(3): Show ATGTTATGTTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	174	0.0058	-10	c.181 others(29): Show c.1818+8919_1818+8928delATGTTCTGTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71633155	ATGTTCTG others(3): Show ATGTTCTGTTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01175.hp1 others(16): Show HG00438.hp1 HG00673.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02056.hp2 HG02155.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG03486.hp1 NA18986.hp1 NA19001.hp2 NA19030.hp2 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0014t0001 a0002c0007t0001	a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0071 others(16): Show a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0003g0152 a0001c0002t0005g0015 a0001c0014t0001g0108 a0002c0007t0001g0098 a0002c0007t0001g0099	19	174	0.1092	-10	c.181 others(29): Show c.1818+8931_1818+8940delGTTCTGTTCT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71671901	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20752.hp1 HG00280.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0106 a0001c0001t0001g0112	2	174	0.0115	-10	c.282 others(27): Show c.2829+242_2829+251delTGTGTGTGTG	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71700994	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG01433.hp1 others(8): Show HG00642.hp2 HG01261.hp1 HG01433.hp1 HG02055.hp1 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG03098.hp2 HG03486.hp1 HG04204.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0004t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0170 a0001c0001t0002g0028 a0001c0001t0003g0159 a0001c0002t0005g0015 a0001c0004t0002g0049	11	174	0.0632	-10	c.352 others(29): Show c.3522-1356_3522-1347delAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71724572	CTATTGAC others(3): Show CTATTGACTTA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	174	0.0058	-10	c.444 others(25): Show c.4449-87_4449-78delTATTGACTTA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232424322	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(77): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03453.hp1 HG03471.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18979.hp1 NA18984.hp1 NA18989.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0012 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0017 a0001c0018 a0001c0026 a0001c0039 a0002c0006 a0002c0007 a0002c0012 a0002c0023 a0002c0033 a0002c0036 a0003c0004 a0003c0013 a0006c0011 a0006c0028 a0006c0035 a0007c0020 a0007c0029 a0007c0034 a0007c0037 a0007c0063 a0009c0025 a0010c0022 a0012c0056 a0012c0067 a0015c0044 a0017c0054	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(44): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0005t0001 a0001c0005t0003 a0001c0016t0002 a0001c0017t0001 a0001c0018t0001 a0001c0018t0002 a0001c0018t0014 a0001c0026t0001 a0001c0026t0003 a0001c0039t0001 a0002c0006t0019 a0002c0007t0001 a0002c0007t0002 a0002c0012t0001 a0002c0012t0002 a0002c0023t0008 a0002c0033t0011 a0002c0036t0001 a0002c0036t0003 a0003c0004t0001 a0003c0013t0002 a0006c0011t0001 a0006c0011t0002 a0006c0011t0003 a0006c0028t0001 a0006c0035t0001 a0006c0035t0002 a0007c0020t0003 a0007c0029t0001 a0007c0029t0002 a0007c0034t0003 a0007c0037t0003 a0007c0063t0001 a0009c0025t0003 a0010c0022t0002 a0012c0056t0001 a0012c0067t0001 a0015c0044t0001 a0017c0054t0024	a0001c0001t0003g0259 a0001c0001t0006g0008 a0001c0001t0023g0280 others(77): Show a0001c0001t0003g0259 a0001c0001t0006g0008 a0001c0001t0023g0280 a0001c0002t0001g0084 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0219 a0001c0002t0003g0248 a0001c0003t0001g0083 a0001c0003t0001g0119 a0001c0003t0001g0174 a0001c0003t0001g0227 a0001c0003t0002g0024 a0001c0003t0006g0011 a0001c0003t0006g0012 a0001c0005t0001g0093 a0001c0005t0001g0167 a0001c0005t0001g0178 a0001c0005t0003g0262 a0001c0005t0003g0287 a0001c0005t0003g0290 a0001c0016t0002g0021 a0001c0017t0001g0159 a0001c0018t0001g0111 a0001c0018t0002g0046 a0001c0018t0014g0060 a0001c0026t0001g0197 a0001c0026t0003g0258 a0001c0026t0003g0260 a0001c0039t0001g0211 a0002c0006t0019g0108 a0002c0007t0001g0112 a0002c0007t0001g0129 a0002c0007t0001g0152 a0002c0007t0001g0153 a0002c0007t0001g0200 a0002c0007t0001g0216 a0002c0007t0002g0028 a0002c0012t0001g0125 a0002c0012t0001g0149 a0002c0012t0002g0015 a0002c0012t0002g0027 a0002c0023t0008g0289 a0002c0033t0011g0007 a0002c0033t0011g0010 a0002c0036t0001g0150 a0002c0036t0003g0245 a0003c0004t0001g0199 a0003c0013t0002g0026 a0003c0013t0002g0057 a0006c0011t0001g0092 a0006c0011t0001g0155 a0006c0011t0002g0033 a0006c0011t0002g0059 a0006c0011t0002g0061 a0006c0011t0003g0232 a0006c0028t0001g0208 a0006c0035t0001g0140 a0006c0035t0002g0036 a0007c0020t0003g0238 a0007c0029t0001g0139 a0007c0029t0002g0038 a0007c0034t0003g0266 a0007c0037t0003g0235 a0007c0063t0001g0186 a0009c0025t0003g0247 a0009c0025t0003g0250 a0009c0025t0003g0251 a0010c0022t0002g0053 a0010c0022t0002g0054 a0010c0022t0002g0055 a0012c0056t0001g0115 a0012c0067t0001g0177 a0015c0044t0001g0141 a0017c0054t0024g0269	80	292	0.2740	-10	c.463 others(29): Show c.4630+1257_4630+1266delTTTTTTTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232525401	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG03041.hp2 others(1): Show HG01884.hp2 HG02615.hp2 HG03041.hp2 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0012 a0002c0038 a0002c0006 a0002c0012 a0002c0038	a0002c0006t0004 a0002c0006t0007 a0002c0012t0001 others(1): Show a0002c0006t0004 a0002c0006t0007 a0002c0012t0001 a0002c0038t0001	a0002c0006t0004g0097 a0002c0006t0007g0004 a0002c0012t0001g0171 others(1): Show a0002c0006t0004g0097 a0002c0006t0007g0004 a0002c0012t0001g0171 a0002c0038t0001g0098	4	292	0.0137	-10	c.-26 others(29): Show c.-269-9803_-269-9794delAAAAAAAAAA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar

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