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
SPTAN1_chr9_128547587_128638662	128586112	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03516.hp2 others(1): Show HG01891.hp2 HG02922.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0009 a0001c0016 a0001c0009 a0001c0016	a0001c0009t0001 a0001c0016t0001 a0001c0009t0001 a0001c0016t0001	a0001c0009t0001g0004 a0001c0009t0001g0025 a0001c0009t0001g0026 others(1): Show a0001c0009t0001g0004 a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0016t0001g0024	4	312	0.0128	-10	c.277 others(27): Show c.2778+163_2778+172delTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	19/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128590687	TAAAATAC others(3): Show TAAAATACAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03540.hp1 HG02615.hp1 HG02809.hp1 HG03540.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0300 a0001c0010t0001g0301 a0001c0010t0001g0302 a0001c0010t0001g0300 a0001c0010t0001g0301 a0001c0010t0001g0302	3	312	0.0096	-10	c.300 others(27): Show c.3007-784_3007-775delACAAAAAAAT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	21/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128624086	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	312	0.0032	-10	c.583 others(27): Show c.5833-225_5833-216delAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	45/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54453530	TTTTTATT others(3): Show TTTTTATTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02027.hp1 others(25): Show HG00408.hp2 HG00423.hp2 HG02027.hp1 HG02040.hp2 HG02165.hp2 HG02602.hp1 HG03654.hp2 HG04228.hp1 NA18612.hp2 NA18950.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA19012.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0020 a0002c0006 a0008c0028	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0048 a0001c0003t0004 a0001c0014t0001 a0001c0014t0037 a0001c0020t0002 a0002c0006t0003 a0008c0028t0001	a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0015 others(25): Show a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0004g0092 a0001c0001t0007g0019 a0001c0001t0019g0031 a0001c0001t0020g0022 a0001c0001t0020g0023 a0001c0001t0020g0032 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0048g0025 a0001c0003t0004g0024 a0001c0014t0001g0013 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0020t0002g0034 a0002c0006t0003g0014 a0002c0006t0003g0016 a0008c0028t0001g0006	28	370	0.0757	-10	c.-30 others(21): Show c.-3035_-3026delTTTTATTTTA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding		2796		chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54463176	AATCCTAT others(3): Show AATCCTATGCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp2 HG02080.hp2 others(46): Show HG01256.hp2 HG02055.hp2 HG02080.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 HG04228.hp1 NA18944.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19090.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0012 a0001c0014 a0002c0006 a0008c0028 a0010c0032	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0006 a0001c0002t0046 a0001c0005t0003 a0001c0005t0025 a0001c0005t0031 a0001c0005t0034 a0001c0007t0001 a0001c0012t0016 a0001c0014t0001 a0002c0006t0003 a0008c0028t0001 a0010c0032t0004	a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0005g0309 others(46): Show a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0005g0309 a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0001t0019g0183 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0146 a0001c0002t0001g0186 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0006g0114 a0001c0002t0006g0323 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0046g0332 a0001c0005t0003g0181 a0001c0005t0003g0182 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0025g0240 a0001c0005t0031g0187 a0001c0005t0034g0003 a0001c0007t0001g0302 a0001c0012t0016g0153 a0001c0012t0016g0189 a0001c0014t0001g0013 a0001c0014t0001g0029 a0002c0006t0003g0014 a0002c0006t0003g0016 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0185 a0002c0006t0003g0188 a0008c0028t0001g0006 a0010c0032t0004g0329	49	370	0.1324	-10	c.-48 others(27): Show c.-48+6660_-48+6669delTCCTATGCGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0318 a0001c0004t0004g0318	1	370	0.0027	-10	c.-48 others(29): Show c.-48+10080_-48+10089delAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01258.hp1 others(17): Show HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp2 HG02055.hp1 HG02080.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG03195.hp1 HG03516.hp2 HG03669.hp2 HG04184.hp1 NA18955.hp2 NA19005.hp1 NA19083.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0006	a0001c0001t0004 a0001c0001t0014 a0001c0004t0002 others(4): Show a0001c0001t0004 a0001c0001t0014 a0001c0004t0002 a0001c0004t0004 a0001c0005t0025 a0001c0008t0005 a0002c0006t0003	a0001c0001t0004g0070 a0001c0001t0014g0104 a0001c0001t0014g0105 others(17): Show a0001c0001t0004g0070 a0001c0001t0014g0104 a0001c0001t0014g0105 a0001c0001t0014g0282 a0001c0004t0002g0161 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0071 a0001c0004t0004g0134 a0001c0004t0004g0166 a0001c0004t0004g0205 a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0267 a0001c0004t0004g0317 a0001c0005t0025g0240 a0001c0008t0005g0306 a0002c0006t0003g0185 a0002c0006t0003g0188	20	370	0.0541	-10	c.-48 others(29): Show c.-48+24914_-48+24923delGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54483661	GGGCACAG others(3): Show GGGCACAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18946.hp1 NA18971.hp2 others(4): Show HG00558.hp1 NA18946.hp1 NA18971.hp2 NA18978.hp1 NA19055.hp1 NA19058.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0004 a0001c0001t0002 a0001c0004t0004	a0001c0001t0002g0169 a0001c0001t0002g0215 a0001c0001t0002g0216 others(4): Show a0001c0001t0002g0169 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0349 a0001c0004t0004g0218	7	370	0.0189	-10	c.-48 others(29): Show c.-48+27145_-48+27154delGCACAGGAAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54493001	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp2 HG02559.hp2 HG02976.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0042 a0001c0018t0007 a0001c0018t0042	a0001c0018t0007g0112 a0001c0018t0042g0027 a0001c0018t0007g0112 a0001c0018t0042g0027	2	370	0.0054	-10	c.-47 others(29): Show c.-47-33358_-47-33349delTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54528987	TGTGGGAC others(3): Show TGTGGGACAGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show HG02886.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 others(2): Show a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0062 a0001c0005t0008g0269	5	370	0.0135	-10	c.148 others(27): Show c.148+2422_148+2431delGTGGGACAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533349	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02630.hp2 HG04204.hp1 others(10): Show HG00609.hp2 HG02630.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18954.hp2 NA18982.hp1 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp1 NA19086.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0003 a0001c0025 others(2): Show a0001c0002 a0001c0003 a0001c0025 a0002c0006 a0009c0024	a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 others(5): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0003t0009 a0001c0003t0033 a0001c0025t0003 a0002c0006t0003 a0009c0024t0009	a0001c0002t0001g0117 a0001c0002t0004g0101 a0001c0003t0003g0257 others(10): Show a0001c0002t0001g0117 a0001c0002t0004g0101 a0001c0003t0003g0257 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0033g0172 a0001c0025t0003g0352 a0002c0006t0003g0200 a0009c0024t0009g0232	13	370	0.0351	-10	c.148 others(27): Show c.148+6820_148+6829delGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533900	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01981.hp1 others(6): Show HG01071.hp2 HG01081.hp2 HG01981.hp1 HG02145.hp1 HG02145.hp2 HG03139.hp1 HG03688.hp2 HG03927.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0033 a0001c0004 a0001c0007 a0001c0033	a0001c0004t0007 a0001c0004t0010 a0001c0007t0013 others(1): Show a0001c0004t0007 a0001c0004t0010 a0001c0007t0013 a0001c0033t0007	a0001c0004t0007g0110 a0001c0004t0007g0173 a0001c0004t0010g0109 others(6): Show a0001c0004t0007g0110 a0001c0004t0007g0173 a0001c0004t0010g0109 a0001c0004t0010g0175 a0001c0004t0010g0315 a0001c0004t0010g0348 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0033t0007g0248	9	370	0.0243	-10	c.148 others(27): Show c.148+7352_148+7361delACACACACAC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54547734	TGATAAAA others(3): Show TGATAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 HG02486.hp2 others(17): Show HG01346.hp2 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0008 others(1): Show a0001c0005 a0001c0007 a0001c0008 a0001c0013	a0001c0005t0008 a0001c0005t0011 a0001c0005t0021 others(3): Show a0001c0005t0008 a0001c0005t0011 a0001c0005t0021 a0001c0007t0013 a0001c0008t0005 a0001c0013t0015	a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 others(17): Show a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0056 a0001c0005t0008g0062 a0001c0005t0008g0269 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0008t0005g0045 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263	20	370	0.0541	-10	c.148 others(29): Show c.148+21170_148+21179delATAAAAATAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571566	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(97): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18944.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA21309.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0004c0034 a0008c0028	a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 others(20): Show a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0029 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0003t0003 a0001c0005t0003 a0001c0005t0034 a0001c0007t0001 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0011t0003 a0001c0014t0001 a0001c0014t0037 a0004c0034t0001 a0008c0028t0001	a0001c0001t0029g0100 a0001c0002t0001g0009 a0001c0002t0001g0010 others(97): Show a0001c0001t0029g0100 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0186 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0287 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0005g0122 a0001c0002t0006g0089 a0001c0002t0006g0114 a0001c0002t0006g0116 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0271 a0001c0002t0006g0276 a0001c0002t0006g0278 a0001c0002t0006g0281 a0001c0002t0006g0284 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0323 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0028g0294 a0001c0002t0028g0295 a0001c0002t0029g0339 a0001c0002t0046g0332 a0001c0002t0047g0279 a0001c0002t0048g0025 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0356 a0001c0005t0003g0005 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0034g0003 a0001c0007t0001g0081 a0001c0007t0001g0119 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0302 a0001c0007t0001g0311 a0001c0009t0002g0285 a0001c0009t0007g0272 a0001c0009t0007g0286 a0001c0009t0007g0288 a0001c0009t0007g0289 a0001c0009t0007g0336 a0001c0009t0010g0088 a0001c0009t0045g0298 a0001c0011t0003g0228 a0001c0014t0001g0013 a0001c0014t0001g0029 a0001c0014t0037g0011 a0004c0034t0001g0002 a0008c0028t0001g0006	100	370	0.2703	-10	c.149 others(29): Show c.149-27516_149-27507delTACACACACA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0161 a0001c0004t0002g0161	1	370	0.0027	-10	c.149 others(29): Show c.149-17501_149-17492delTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54595993	CTACCTTT others(3): Show CTACCTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(108): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18974.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0013 a0001c0019 a0001c0025 a0001c0026 a0002c0006 a0003c0027 a0005c0030 a0009c0024	a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 others(30): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0001t0044 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0001c0005t0012 a0001c0005t0021 a0001c0005t0025 a0001c0005t0031 a0001c0005t0034 a0001c0005t0043 a0001c0008t0005 a0001c0008t0026 a0001c0011t0003 a0001c0011t0023 a0001c0013t0015 a0001c0019t0012 a0001c0025t0003 a0001c0026t0006 a0002c0006t0003 a0003c0027t0003 a0005c0030t0030 a0009c0024t0009	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(108): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0007g0196 a0001c0001t0007g0270 a0001c0001t0007g0296 a0001c0001t0018g0180 a0001c0001t0044g0297 a0001c0003t0003g0008 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0251 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0292 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0003g0366 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 a0001c0005t0003g0181 a0001c0005t0003g0182 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0056 a0001c0005t0008g0062 a0001c0005t0008g0176 a0001c0005t0008g0269 a0001c0005t0008g0368 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0005t0025g0240 a0001c0005t0025g0250 a0001c0005t0031g0187 a0001c0005t0034g0003 a0001c0005t0043g0039 a0001c0008t0005g0045 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0365 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263 a0001c0019t0012g0246 a0001c0019t0012g0252 a0001c0025t0003g0352 a0001c0026t0006g0102 a0002c0006t0003g0014 a0002c0006t0003g0016 a0002c0006t0003g0141 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0185 a0002c0006t0003g0188 a0002c0006t0003g0200 a0003c0027t0003g0075 a0005c0030t0030g0174 a0009c0024t0009g0232	111	370	0.3000	-10	c.149 others(27): Show c.149-3080_149-3071delTGTACCTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40565271	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0001 a0017c0052t0001	a0017c0052t0001g0122 a0017c0052t0001g0122	1	234	0.0043	-10	c.591 others(27): Show c.5916-133_5916-124delAGAAAAGAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569936	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp2 HG02886.hp1 HG02976.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0044 a0001c0001 a0007c0044	a0001c0001t0001 a0007c0044t0001 a0001c0001t0001 a0007c0044t0001	a0001c0001t0001g0225 a0007c0044t0001g0167 a0001c0001t0001g0225 a0007c0044t0001g0167	2	234	0.0086	-10	c.702 others(27): Show c.7026+239_7026+248delCACACACACA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40577948	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0013 a0013	a0013c0046 a0013c0046	a0013c0046t0001 a0013c0046t0001	a0013c0046t0001g0164 a0013c0046t0001g0164	1	234	0.0043	-10	c.23 others(21): Show c.2380_*2389delACACACACAC	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding		1485		chr19	TogoVar
SPTB_chr14_64741283_64884907	64830366	TATTATTA others(3): Show TATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0200 a0002c0006t0001g0200	1	268	0.0037	-10	c.-51 others(27): Show c.-51-7231_-51-7222delTAATAATAAT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64830367	ATTATTAT others(3): Show ATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02630.hp1 HG02896.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0009 a0002c0006t0005 a0002c0005t0009 a0002c0006t0005	a0002c0005t0009g0108 a0002c0006t0005g0158 a0002c0005t0009g0108 a0002c0006t0005g0158	2	268	0.0075	-10	c.-51 others(27): Show c.-51-7232_-51-7223delATAATAATAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859694	GTCTCTCT others(3): Show GTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02280.hp1 others(19): Show HG01361.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18747.hp2 NA19080.hp1 NA20129.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0012 a0013 a0018	a0001c0002 a0002c0003 a0002c0005 others(7): Show a0001c0002 a0002c0003 a0002c0005 a0002c0013 a0002c0026 a0006c0016 a0007c0018 a0012c0025 a0013c0049 a0018c0054	a0001c0002t0003 a0002c0003t0001 a0002c0003t0002 others(11): Show a0001c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0009 a0002c0005t0001 a0002c0005t0007 a0002c0013t0005 a0002c0026t0018 a0006c0016t0021 a0007c0018t0002 a0012c0025t0008 a0013c0049t0003 a0018c0054t0007	a0001c0002t0003g0057 a0001c0002t0003g0058 a0002c0003t0001g0263 others(19): Show a0001c0002t0003g0057 a0001c0002t0003g0058 a0002c0003t0001g0263 a0002c0003t0002g0128 a0002c0003t0008g0121 a0002c0003t0009g0123 a0002c0005t0001g0122 a0002c0005t0007g0124 a0002c0005t0007g0125 a0002c0005t0007g0127 a0002c0005t0007g0129 a0002c0005t0007g0130 a0002c0005t0007g0132 a0002c0013t0005g0140 a0002c0026t0018g0066 a0002c0026t0018g0067 a0006c0016t0021g0056 a0007c0018t0002g0242 a0012c0025t0008g0119 a0012c0025t0008g0120 a0013c0049t0003g0134 a0018c0054t0007g0126	22	268	0.0821	-10	c.-52 others(29): Show c.-52+20088_-52+20097delGAGAGAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859712	CTCTCTCT others(3): Show CTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01168.hp1 others(32): Show HG00642.hp1 HG01074.hp1 HG01168.hp1 HG01175.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03654.hp2 NA18951.hp2 NA18990.hp2 NA18998.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19077.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0008 a0015 a0022 a0024	a0001c0001 a0001c0002 a0001c0014 others(14): Show a0001c0001 a0001c0002 a0001c0014 a0001c0021 a0001c0028 a0002c0003 a0002c0005 a0002c0006 a0002c0013 a0002c0053 a0002c0081 a0006c0016 a0006c0029 a0008c0011 a0015c0067 a0022c0066 a0024c0046	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 others(23): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0014t0004 a0001c0021t0009 a0001c0028t0012 a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 a0002c0003t0028 a0002c0003t0034 a0002c0005t0037 a0002c0006t0011 a0002c0006t0030 a0002c0013t0001 a0002c0013t0005 a0002c0053t0001 a0002c0081t0001 a0006c0016t0011 a0006c0029t0001 a0008c0011t0002 a0015c0067t0010 a0022c0066t0009 a0024c0046t0016	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0135 others(32): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0135 a0001c0001t0006g0154 a0001c0001t0026g0034 a0001c0002t0001g0139 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0014t0004g0141 a0001c0021t0009g0101 a0001c0021t0009g0104 a0001c0028t0012g0172 a0001c0028t0012g0173 a0002c0003t0001g0063 a0002c0003t0005g0110 a0002c0003t0008g0118 a0002c0003t0028g0019 a0002c0003t0034g0060 a0002c0005t0037g0107 a0002c0006t0011g0181 a0002c0006t0030g0111 a0002c0013t0001g0059 a0002c0013t0005g0142 a0002c0053t0001g0061 a0002c0081t0001g0177 a0006c0016t0011g0053 a0006c0029t0001g0103 a0006c0029t0001g0157 a0008c0011t0002g0051 a0008c0011t0002g0052 a0008c0011t0002g0054 a0008c0011t0002g0055 a0015c0067t0010g0133 a0022c0066t0009g0102 a0024c0046t0016g0178	35	268	0.1306	-10	c.-52 others(29): Show c.-52+20070_-52+20079delTAGAGAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859714	CTCTCTCT others(3): Show CTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01261.hp1 others(23): Show HG00280.hp2 HG01081.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA19056.hp1 NA19240.hp1	a0001 a0002 a0010 others(2): Show a0001 a0002 a0010 a0011 a0027	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0006 a0002c0012 a0002c0040 a0010c0052 a0010c0082 a0011c0027 a0027c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 a0002c0003t0013 a0002c0005t0004 a0002c0006t0003 a0002c0006t0005 a0002c0006t0008 a0002c0012t0010 a0002c0040t0031 a0010c0052t0012 a0010c0082t0011 a0011c0027t0003 a0027c0042t0016	a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0148 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0148 a0001c0001t0001g0241 a0001c0001t0002g0208 a0001c0001t0006g0002 a0001c0002t0001g0114 a0002c0003t0001g0113 a0002c0003t0005g0105 a0002c0003t0008g0100 a0002c0003t0013g0112 a0002c0003t0013g0116 a0002c0003t0013g0117 a0002c0005t0004g0131 a0002c0006t0003g0153 a0002c0006t0005g0152 a0002c0006t0005g0158 a0002c0006t0008g0049 a0002c0012t0010g0001 a0002c0012t0010g0256 a0002c0040t0031g0050 a0010c0052t0012g0115 a0010c0082t0011g0170 a0011c0027t0003g0029 a0027c0042t0016g0003	26	268	0.0970	-10	c.-52 others(29): Show c.-52+20068_-52+20077delTATAGAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859716	CTCTCTAT others(3): Show CTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(103): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp2 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19070.hp1 NA19077.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0013 a0014 a0020 a0021 a0025 a0026 a0029 a0030	a0001c0001 a0001c0002 a0001c0009 others(36): Show a0001c0001 a0001c0002 a0001c0009 a0001c0022 a0001c0057 a0001c0058 a0001c0059 a0001c0068 a0001c0073 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0012 a0002c0013 a0002c0031 a0002c0076 a0002c0080 a0003c0004 a0003c0030 a0003c0048 a0005c0010 a0005c0015 a0005c0036 a0006c0037 a0006c0064 a0006c0071 a0007c0017 a0007c0018 a0007c0035 a0011c0027 a0013c0075 a0014c0074 a0020c0061 a0021c0045 a0025c0069 a0026c0041 a0029c0034 a0030c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0036 a0001c0009t0001 a0001c0009t0002 a0001c0009t0006 a0001c0009t0027 a0001c0022t0004 a0001c0057t0001 a0001c0058t0029 a0001c0059t0001 a0001c0068t0003 a0001c0073t0014 a0002c0003t0005 a0002c0003t0006 a0002c0003t0020 a0002c0005t0004 a0002c0005t0009 a0002c0006t0001 a0002c0007t0001 a0002c0007t0003 a0002c0007t0019 a0002c0012t0002 a0002c0013t0001 a0002c0031t0011 a0002c0076t0001 a0002c0080t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0015 a0003c0004t0038 a0003c0030t0014 a0003c0030t0023 a0003c0048t0006 a0005c0010t0004 a0005c0015t0001 a0005c0015t0003 a0005c0036t0017 a0006c0037t0007 a0006c0064t0001 a0006c0071t0001 a0007c0017t0001 a0007c0018t0005 a0007c0018t0006 a0007c0035t0003 a0011c0027t0003 a0013c0075t0003 a0014c0074t0002 a0020c0061t0005 a0021c0045t0005 a0025c0069t0009 a0026c0041t0005 a0029c0034t0002 a0030c0044t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0144 others(103): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0189 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0003g0007 a0001c0001t0005g0249 a0001c0001t0005g0261 a0001c0001t0006g0012 a0001c0002t0001g0068 a0001c0002t0001g0182 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0002g0183 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0033 a0001c0002t0003g0240 a0001c0002t0036g0238 a0001c0009t0001g0009 a0001c0009t0001g0014 a0001c0009t0002g0010 a0001c0009t0002g0011 a0001c0009t0006g0013 a0001c0009t0027g0015 a0001c0022t0004g0145 a0001c0022t0004g0251 a0001c0057t0001g0215 a0001c0058t0029g0235 a0001c0059t0001g0246 a0001c0068t0003g0217 a0001c0073t0014g0258 a0002c0003t0005g0219 a0002c0003t0006g0150 a0002c0003t0020g0259 a0002c0005t0004g0151 a0002c0005t0009g0017 a0002c0005t0009g0108 a0002c0006t0001g0149 a0002c0006t0001g0204 a0002c0007t0001g0234 a0002c0007t0001g0248 a0002c0007t0001g0254 a0002c0007t0003g0220 a0002c0007t0003g0229 a0002c0007t0019g0257 a0002c0012t0002g0166 a0002c0013t0001g0228 a0002c0031t0011g0109 a0002c0076t0001g0175 a0002c0080t0002g0169 a0003c0004t0001g0165 a0003c0004t0002g0213 a0003c0004t0002g0221 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0243 a0003c0004t0015g0265 a0003c0004t0015g0266 a0003c0004t0015g0267 a0003c0004t0038g0264 a0003c0030t0014g0164 a0003c0030t0023g0168 a0003c0048t0006g0244 a0005c0010t0004g0046 a0005c0010t0004g0205 a0005c0010t0004g0206 a0005c0010t0004g0218 a0005c0010t0004g0232 a0005c0010t0004g0236 a0005c0015t0001g0191 a0005c0015t0001g0216 a0005c0015t0003g0203 a0005c0036t0017g0209 a0006c0037t0007g0262 a0006c0064t0001g0222 a0006c0071t0001g0174 a0007c0017t0001g0161 a0007c0017t0001g0163 a0007c0017t0001g0171 a0007c0018t0005g0167 a0007c0018t0006g0179 a0007c0035t0003g0162 a0011c0027t0003g0239 a0013c0075t0003g0176 a0014c0074t0002g0223 a0020c0061t0005g0214 a0021c0045t0005g0187 a0025c0069t0009g0245 a0026c0041t0005g0155 a0029c0034t0002g0237 a0030c0044t0001g0255	106	268	0.3955	-10	c.-52 others(29): Show c.-52+20066_-52+20075delTATATAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859718	CTCTATAT others(3): Show CTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02970.hp1 others(3): Show HG02145.hp2 HG02622.hp1 HG02970.hp1 HG03139.hp2 NA18992.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0009t0002	a0001c0001t0024g0210 a0001c0002t0001g0184 a0001c0002t0001g0185 others(3): Show a0001c0001t0024g0210 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0002g0192 a0001c0009t0002g0199	6	268	0.0224	-10	c.-52 others(29): Show c.-52+20064_-52+20073delTATATATAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859720	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02615.hp1 others(7): Show HG01109.hp2 HG01243.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02965.hp1 HG03453.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0028	a0001c0014 a0001c0063 a0002c0003 others(4): Show a0001c0014 a0001c0063 a0002c0003 a0002c0078 a0006c0016 a0009c0020 a0028c0065	a0001c0014t0001 a0001c0063t0004 a0002c0003t0012 others(4): Show a0001c0014t0001 a0001c0063t0004 a0002c0003t0012 a0002c0078t0013 a0006c0016t0005 a0009c0020t0001 a0028c0065t0013	a0001c0014t0001g0193 a0001c0063t0004g0197 a0002c0003t0012g0159 others(7): Show a0001c0014t0001g0193 a0001c0063t0004g0197 a0002c0003t0012g0159 a0002c0003t0012g0160 a0002c0078t0013g0198 a0006c0016t0005g0201 a0009c0020t0001g0194 a0009c0020t0001g0195 a0009c0020t0001g0196 a0028c0065t0013g0180	10	268	0.0373	-10	c.-52 others(29): Show c.-52+20062_-52+20071delTATATATATA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534176	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp2 others(36): Show HG00099.hp1 HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00733.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03654.hp2 NA18948.hp1 NA18968.hp2 NA18981.hp1 NA18986.hp1 NA19000.hp2 NA19010.hp2 NA19030.hp1 NA19066.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0027 a0001c0001t0035 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0003g0144 a0001c0001t0005g0183 a0001c0001t0006g0155 a0001c0001t0009g0175 a0001c0001t0027g0136 a0001c0001t0035g0123 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0021	39	246	0.1585	-10	c.130 others(31): Show c.1304-12605_1304-12596delTGTGTGTGAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534178	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02602.hp2 HG00438.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0030 a0001c0001t0036g0084 a0001c0001t0001g0030 a0001c0001t0036g0084	2	246	0.0081	-10	c.130 others(31): Show c.1304-12607_1304-12598delTGTGTGTGTG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564400	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02451.hp2 HG02572.hp2 others(8): Show HG01358.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03710.hp1 HG04199.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0003t0001	a0001c0001t0001g0058 a0001c0001t0003g0184 a0001c0001t0003g0189 others(8): Show a0001c0001t0001g0058 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0019g0245 a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0021	11	246	0.0447	-10	c.757 others(27): Show c.757-1921_757-1912delGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77620882	TTTTTCTT others(3): Show TTTTTCTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00621.hp1 others(50): Show HG00280.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01346.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02083.hp2 HG02109.hp1 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18968.hp1 NA18981.hp2 NA18986.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19087.hp2 NA19091.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0025 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0017 a0001c0005t0037 a0001c0006t0018 a0001c0006t0022 a0001c0009t0004	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0058 others(50): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0065 a0001c0001t0003g0189 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0005g0074 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0016g0069 a0001c0001t0021g0003 a0001c0001t0025g0020 a0001c0001t0034g0091 a0001c0001t0036g0084 a0001c0001t0039g0101 a0001c0001t0043g0026 a0001c0002t0002g0025 a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0003t0001g0021 a0001c0003t0017g0064 a0001c0005t0037g0055 a0001c0006t0018g0018 a0001c0006t0018g0075 a0001c0006t0022g0004 a0001c0009t0004g0063	53	246	0.2155	-10	c.-43 others(21): Show c.-4313_-4304delGAAAAGAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding		4246		chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13027637	GCACGCAC others(3): Show GCACGCACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01515.hp2 others(2): Show HG00741.hp1 HG01243.hp2 HG01515.hp2 HG02895.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0001t0014 a0001c0001t0044 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0044 a0001c0001t0046 a0001c0012t0023	a0001c0001t0003g0072 a0001c0001t0014g0074 a0001c0001t0044g0073 others(2): Show a0001c0001t0003g0072 a0001c0001t0014g0074 a0001c0001t0044g0073 a0001c0001t0046g0071 a0001c0012t0023g0165	5	292	0.0171	-10	c.117 others(29): Show c.117+18257_117+18266delGCACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13027641	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01123.hp2 others(13): Show HG00140.hp1 HG00735.hp2 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02109.hp2 HG02622.hp2 HG02738.hp2 HG03491.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 a0001c0005t0018 a0001c0005t0020 a0001c0005t0025 a0001c0009t0011 a0001c0014t0005	a0001c0001t0001g0159 a0001c0001t0001g0211 a0001c0001t0004g0238 others(13): Show a0001c0001t0001g0159 a0001c0001t0001g0211 a0001c0001t0004g0238 a0001c0001t0007g0237 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0019g0160 a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0009g0079 a0001c0005t0018g0084 a0001c0005t0020g0078 a0001c0005t0025g0088 a0001c0009t0011g0161 a0001c0014t0005g0083	16	292	0.0548	-10	c.117 others(29): Show c.117+18287_117+18296delACACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13044995	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00621.hp1 others(66): Show HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03239.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0006 a0002c0018 a0003c0007 a0004c0008 a0005c0011 a0007c0017	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(26): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0003t0005 a0001c0003t0006 a0001c0005t0016 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0021 a0002c0002t0026 a0002c0002t0031 a0002c0002t0034 a0002c0002t0036 a0002c0002t0043 a0002c0002t0052 a0002c0002t0062 a0002c0006t0005 a0002c0006t0006 a0002c0018t0002 a0003c0007t0006 a0004c0008t0006 a0005c0011t0023 a0007c0017t0013	a0001c0001t0003g0192 a0001c0001t0008g0034 a0001c0001t0008g0035 others(66): Show a0001c0001t0003g0192 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0015g0265 a0001c0001t0021g0064 a0001c0003t0005g0172 a0001c0003t0006g0040 a0001c0005t0016g0147 a0002c0002t0001g0102 a0002c0002t0001g0190 a0002c0002t0001g0199 a0002c0002t0001g0212 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0019 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0038 a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0200 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0007g0246 a0002c0002t0007g0278 a0002c0002t0007g0279 a0002c0002t0008g0004 a0002c0002t0008g0006 a0002c0002t0008g0012 a0002c0002t0008g0017 a0002c0002t0008g0018 a0002c0002t0008g0044 a0002c0002t0008g0047 a0002c0002t0013g0041 a0002c0002t0021g0065 a0002c0002t0026g0213 a0002c0002t0026g0214 a0002c0002t0031g0001 a0002c0002t0034g0024 a0002c0002t0036g0061 a0002c0002t0043g0193 a0002c0002t0052g0087 a0002c0002t0062g0280 a0002c0006t0005g0086 a0002c0006t0005g0171 a0002c0006t0005g0191 a0002c0006t0005g0194 a0002c0006t0005g0195 a0002c0006t0006g0016 a0002c0006t0006g0023 a0002c0006t0006g0028 a0002c0006t0006g0036 a0002c0006t0006g0037 a0002c0006t0006g0039 a0002c0006t0006g0042 a0002c0006t0006g0043 a0002c0018t0002g0054 a0003c0007t0006g0002 a0003c0007t0006g0066 a0004c0008t0006g0033 a0005c0011t0023g0166 a0007c0017t0013g0049	69	292	0.2363	-10	c.118 others(27): Show c.118-3918_118-3909delACACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03130.hp1 NA18988.hp2 HG02155.hp1 HG03130.hp1 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0052 a0002c0006t0006 a0002c0002t0001 a0002c0002t0052 a0002c0006t0006	a0002c0002t0001g0212 a0002c0002t0052g0087 a0002c0006t0006g0023 a0002c0002t0001g0212 a0002c0002t0052g0087 a0002c0006t0006g0023	3	292	0.0103	-10	c.304 others(27): Show c.304-5163_304-5154delATATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13113058	CCATAATC others(3): Show CCATAATCCCA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0089 a0001c0005t0001g0089	1	292	0.0034	-10	c.932 others(27): Show c.932+2842_932+2851delCATAATCCCA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	7/11			chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02109.hp1 HG02280.hp1 others(9): Show HG01069.hp1 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0002t0007	a0001c0001t0001g0160 a0001c0001t0005g0022 a0001c0001t0005g0023 others(9): Show a0001c0001t0001g0160 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0016g0024 a0001c0002t0007g0014 a0001c0002t0007g0015 a0001c0002t0007g0016 a0001c0002t0007g0017	12	344	0.0349	-10	c.113 others(27): Show c.113-7840_113-7831delACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443355	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 NA18522.hp2 HG03130.hp2 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0026g0329 a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0026g0329	3	344	0.0087	-10	c.113 others(27): Show c.113-8061_113-8052delACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462894	GCACACAC others(3): Show GCACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00642.hp1 others(33): Show HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01167.hp2 HG01243.hp1 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02683.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18956.hp1 NA18966.hp1 NA18994.hp2 NA18997.hp2 NA19043.hp2 NA19080.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(33): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0255 a0001c0001t0002g0196	36	344	0.1047	-10	c.-69 others(19): Show c.-697_-688delTGTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		655		chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462932	ACACACAC others(3): Show ACACACACACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(78): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01243.hp2 HG01346.hp1 HG01884.hp1 HG01981.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19070.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0002t0007	a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0001g0092 others(78): Show a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0008g0131 a0001c0001t0009g0325 a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0010g0067 a0001c0001t0012g0043 a0001c0001t0012g0059 a0001c0001t0016g0024 a0001c0001t0019g0118 a0001c0001t0020g0119 a0001c0001t0026g0329 a0001c0002t0007g0015 a0001c0002t0007g0016 a0001c0002t0007g0017	81	344	0.2355	-10	c.-73 others(19): Show c.-735_-726delGGTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		693		chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34467217	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02451.hp1 HG02486.hp1 others(9): Show HG01496.hp2 HG02451.hp1 HG02486.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0005g0026 a0001c0001t0009g0325 a0001c0001t0009g0326	12	344	0.0349	-10	c.-50 others(21): Show c.-5020_-5011delGTGTGTGTGT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		4978		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161348251	GCAAAACA others(3): Show GCAAAACAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18977.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0119 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0247 a0001c0001t0002g0104 a0001c0001t0002g0288 a0001c0001t0003g0050 a0001c0001t0003g0264 a0001c0001t0008g0055 a0001c0001t0008g0292 a0001c0001t0021g0214	106	412	0.2573	-10	c.-32 others(27): Show c.-32-1906_-32-1897delTTTTGTTTTG	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	2/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161368116	ATTTCATA others(3): Show ATTTCATATAT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	412	0.0024	-10	c.-12 others(29): Show c.-126+3309_-126+3318delATATATGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369304	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01884.hp2 others(9): Show HG00423.hp1 HG01069.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03669.hp2 NA18943.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0053 a0001c0001t0001g0223 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0004g0252 a0001c0001t0006g0299 a0001c0001t0008g0055 a0001c0001t0008g0292	12	412	0.0291	-10	c.-12 others(29): Show c.-126+2121_-126+2130delGAAAGAAAGA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	CAGAAAAG others(3): Show CAGAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01978.hp2 HG01993.hp2 others(29): Show HG01106.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02293.hp1 HG02300.hp2 HG02630.hp1 HG02922.hp2 HG02976.hp2 HG03239.hp1 HG04115.hp1 NA18941.hp2 NA18950.hp2 NA18962.hp2 NA18972.hp2 NA18982.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19054.hp2 NA19063.hp1 NA19065.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0026 a0001c0002t0002 a0002c0003t0001 a0009c0010t0002	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0137 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0006g0138 a0001c0001t0023g0256 a0001c0001t0026g0258 a0001c0002t0002g0002 a0001c0002t0002g0125 a0001c0002t0002g0159 a0001c0002t0002g0177 a0001c0002t0002g0221 a0001c0002t0002g0244 a0002c0003t0001g0051 a0002c0003t0001g0063 a0009c0010t0002g0160	32	444	0.0721	-10	c.61- others(25): Show c.61-4344_61-4335delTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125001480	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	378	0.0027	-10	c.292 others(27): Show c.292-1694_292-1685delGTGTGTGTAT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQOR_chr15_45630029_45696281	45633383	AGAGTTAT others(3): Show AGAGTTATTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	340	0.0029	-10	c.-17 others(21): Show c.-1742_-1733delGAGTTATTTG	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		1645		chr15	TogoVar
SQOR_chr15_45630029_45696281	45634198	CTATATAT others(3): Show CTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp2 others(4): Show HG02109.hp2 HG02257.hp2 HG02280.hp2 HG03225.hp2 NA18949.hp2 NA18986.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 others(4): Show a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0007g0316 a0002c0002t0001g0083 a0002c0002t0001g0084	7	340	0.0206	-10	c.-92 others(19): Show c.-927_-918delTATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45652638	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	340	0.0029	-10	c.-17 others(27): Show c.-17-6252_-17-6243delTTTTTTTTTT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45666841	CCTCCCCT others(3): Show CCTCCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	340	0.0029	-10	c.406 others(27): Show c.406-3082_406-3073delCCTCCTCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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