Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTBN1_chr2_54451327_54676446	54465639	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03209.hp1 HG02155.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0015 a0001c0001t0002 a0001c0013t0015	a0001c0001t0002g0225 a0001c0013t0015g0255 a0001c0001t0002g0225 a0001c0013t0015g0255	2	370	0.0054	-12	c.-48 others(29): Show c.-48+9140_-48+9151delATATATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0347 a0001c0001t0007g0347	1	370	0.0027	-12	c.-48 others(31): Show c.-48+10078_-48+10089delAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01255.hp2 others(20): Show HG01109.hp2 HG01167.hp2 HG01255.hp2 HG01981.hp1 HG02258.hp1 HG02451.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18957.hp2 NA18989.hp1 NA18994.hp2 NA19005.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0033 a0002c0006 a0010c0032	a0001c0001t0003 a0001c0003t0003 a0001c0004t0004 others(5): Show a0001c0001t0003 a0001c0003t0003 a0001c0004t0004 a0001c0005t0008 a0001c0005t0012 a0001c0033t0007 a0002c0006t0003 a0010c0032t0004	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(20): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0003t0003g0008 a0001c0003t0003g0251 a0001c0003t0003g0305 a0001c0003t0003g0366 a0001c0004t0004g0098 a0001c0004t0004g0132 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0062 a0001c0005t0008g0269 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0033t0007g0248 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0010c0032t0004g0329	23	370	0.0622	-12	c.-48 others(31): Show c.-48+24912_-48+24923delGTGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54506123	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01167.hp1 others(11): Show HG00735.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02559.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0009 others(2): Show a0001c0002 a0001c0007 a0001c0009 a0001c0018 a0001c0029	a0001c0002t0001 a0001c0007t0013 a0001c0009t0002 others(6): Show a0001c0002t0001 a0001c0007t0013 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0018t0007 a0001c0018t0042 a0001c0029t0007	a0001c0002t0001g0275 a0001c0007t0013g0108 a0001c0007t0013g0137 others(11): Show a0001c0002t0001g0275 a0001c0007t0013g0108 a0001c0007t0013g0137 a0001c0009t0002g0285 a0001c0009t0007g0280 a0001c0009t0007g0286 a0001c0009t0007g0288 a0001c0009t0007g0289 a0001c0009t0007g0336 a0001c0009t0010g0088 a0001c0009t0045g0298 a0001c0018t0007g0112 a0001c0018t0042g0027 a0001c0029t0007g0290	14	370	0.0378	-12	c.-47 others(31): Show c.-47-20220_-47-20209delTAAATAAATAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533349	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(39): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG02015.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18974.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA19005.hp1 NA19043.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0011 a0001c0026 others(2): Show a0001c0003 a0001c0011 a0001c0026 a0002c0006 a0003c0027	a0001c0003t0003 a0001c0003t0004 a0001c0003t0024 others(8): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0036 a0001c0011t0003 a0001c0011t0023 a0001c0026t0006 a0002c0006t0003 a0003c0027t0003	a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 others(39): Show a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0256 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0292 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0004g0024 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0036g0361 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0026t0006g0102 a0002c0006t0003g0014 a0002c0006t0003g0016 a0002c0006t0003g0141 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0185 a0002c0006t0003g0188 a0003c0027t0003g0075	42	370	0.1135	-12	c.148 others(29): Show c.148+6818_148+6829delGTGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571546	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	370	0.0027	-12	c.149 others(31): Show c.149-27528_149-27517delCACACACACACA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571564	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02135.hp2 HG02698.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG04115.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA18992.hp1 NA19012.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011 a0001c0025 a0001c0026 a0003c0027 a0009c0024	a0001c0001t0003 a0001c0001t0007 a0001c0001t0044 others(13): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0044 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0027 a0001c0003t0033 a0001c0003t0036 a0001c0005t0003 a0001c0011t0003 a0001c0011t0023 a0001c0025t0003 a0001c0026t0006 a0003c0027t0003 a0009c0024t0009	a0001c0001t0003g0223 a0001c0001t0007g0196 a0001c0001t0007g0270 others(38): Show a0001c0001t0003g0223 a0001c0001t0007g0196 a0001c0001t0007g0270 a0001c0001t0007g0296 a0001c0001t0044g0297 a0001c0003t0003g0008 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0177 a0001c0003t0003g0251 a0001c0003t0003g0262 a0001c0003t0003g0292 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0003g0366 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0005t0003g0181 a0001c0005t0003g0182 a0001c0011t0003g0171 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0025t0003g0352 a0001c0026t0006g0102 a0003c0027t0003g0075 a0009c0024t0009g0232	41	370	0.1108	-12	c.149 others(31): Show c.149-27516_149-27505delTACACACACACA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0212 a0001c0015t0002g0212	1	370	0.0027	-12	c.149 others(31): Show c.149-17503_149-17492delTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40483955	ATCGCAAA others(5): Show ATCGCAAAGCTCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp1 HG02135.hp1 others(16): Show HG01123.hp1 HG01884.hp1 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG03209.hp2 HG03516.hp1 HG06807.hp1 NA18970.hp2 NA18979.hp1 NA18983.hp1 NA18999.hp2 NA19005.hp1 NA19010.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0016	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0054 a0002c0003 a0002c0021 a0003c0006 a0004c0014 a0013c0046 a0016c0022	a0001c0001t0001 a0001c0002t0003 a0001c0008t0001 others(8): Show a0001c0001t0001 a0001c0002t0003 a0001c0008t0001 a0001c0054t0001 a0002c0003t0001 a0002c0021t0001 a0003c0006t0001 a0003c0006t0004 a0004c0014t0001 a0013c0046t0001 a0016c0022t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0002t0003g0163 others(16): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0002t0003g0163 a0001c0008t0001g0046 a0001c0008t0001g0077 a0001c0054t0001g0090 a0002c0003t0001g0099 a0002c0021t0001g0219 a0003c0006t0001g0084 a0003c0006t0001g0212 a0003c0006t0001g0213 a0003c0006t0001g0214 a0003c0006t0001g0215 a0003c0006t0001g0216 a0003c0006t0001g0227 a0003c0006t0004g0080 a0004c0014t0001g0055 a0013c0046t0001g0164 a0016c0022t0001g0012	19	234	0.0812	-12	c.170 others(29): Show c.170-3731_170-3720delCTTCGCAAAGCT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40498373	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG02559.hp1 others(1): Show HG01261.hp1 HG01358.hp2 HG02559.hp1 HG03209.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0019 a0005c0026 a0001c0002 a0002c0019 a0005c0026	a0001c0002t0005 a0002c0019t0001 a0005c0026t0001 a0001c0002t0005 a0002c0019t0001 a0005c0026t0001	a0001c0002t0005g0193 a0002c0019t0001g0043 a0002c0019t0001g0162 others(1): Show a0001c0002t0005g0193 a0002c0019t0001g0043 a0002c0019t0001g0162 a0005c0026t0001g0005	4	234	0.0171	-12	c.784 others(27): Show c.784+805_784+816delATTTATTTATTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40505700	GAGGAAGG others(5): Show GAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02258.hp1 HG02723.hp2	a0004 a0020 a0004 a0020	a0004c0007 a0020c0050 a0004c0007 a0020c0050	a0004c0007t0010 a0020c0050t0001 a0004c0007t0010 a0020c0050t0001	a0004c0007t0010g0136 a0020c0050t0001g0023 a0004c0007t0010g0136 a0020c0050t0001g0023	2	234	0.0086	-12	c.166 others(29): Show c.1666-493_1666-482delGAAGGAAGGAAG	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40531464	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00738.hp1 others(21): Show HG00621.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp1 HG01255.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02074.hp1 HG02135.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp2 NA18971.hp1 NA18983.hp2 NA19002.hp1 NA19005.hp2 NA19054.hp1 NA19081.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0010 a0001c0038 others(2): Show a0001c0001 a0001c0010 a0001c0038 a0004c0007 a0016c0022	a0001c0001t0001 a0001c0010t0008 a0001c0038t0001 others(2): Show a0001c0001t0001 a0001c0010t0008 a0001c0038t0001 a0004c0007t0001 a0016c0022t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0010t0008g0075 a0001c0038t0001g0105 a0004c0007t0001g0004 a0004c0007t0001g0139 a0004c0007t0001g0140 a0016c0022t0001g0012	24	234	0.1026	-12	c.394 others(31): Show c.3949-1137_3949-1126delTTTTTTTTTTTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	18/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40558911	AATTATTA others(5): Show AATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	234	0.0043	-12	c.567 others(31): Show c.5671-1221_5671-1210delTATTATTATTAT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	26/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40567298	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18974.hp1 HG03516.hp2 NA18974.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0008c0013t0001 a0001c0001t0001 a0008c0013t0001	a0001c0001t0001g0195 a0008c0013t0001g0143 a0001c0001t0001g0195 a0008c0013t0001g0143	2	234	0.0086	-12	c.633 others(29): Show c.6337-329_6337-318delTAAATAAATAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569936	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0053 a0007c0053	a0007c0053t0001 a0007c0053t0001	a0007c0053t0001g0094 a0007c0053t0001g0094	1	234	0.0043	-12	c.702 others(29): Show c.7026+237_7026+248delCACACACACACA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569963	CACACACA others(5): Show CACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0025 a0001c0010 a0004c0025	a0001c0010t0001 a0004c0025t0001 a0001c0010t0001 a0004c0025t0001	a0001c0010t0001g0093 a0004c0025t0001g0056 a0001c0010t0001g0093 a0004c0025t0001g0056	2	234	0.0086	-12	c.702 others(29): Show c.7026+249_7026+260delGACACACACACA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64765809	TGTGTGTG others(5): Show TGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03453.hp2 HG02615.hp1 HG03453.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0194 a0009c0020t0001g0196 a0009c0020t0001g0194 a0009c0020t0001g0196	2	268	0.0075	-12	c.634 others(29): Show c.6345+905_6345+916delTCACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64791565	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0029 a0029	a0029c0034 a0029c0034	a0029c0034t0002 a0029c0034t0002	a0029c0034t0002g0237 a0029c0034t0002g0237	1	268	0.0037	-12	c.280 others(29): Show c.2804+142_2804+153delTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	15/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64830334	CTTATTAT others(5): Show CTTATTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03486.hp2 HG03704.hp1 others(4): Show HG02735.hp1 HG03486.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp1 NA18960.hp2 NA18979.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0020	a0001c0001 a0001c0009 a0001c0014 others(4): Show a0001c0001 a0001c0009 a0001c0014 a0002c0013 a0003c0004 a0006c0029 a0020c0061	a0001c0001t0035 a0001c0009t0001 a0001c0014t0004 others(4): Show a0001c0001t0035 a0001c0009t0001 a0001c0014t0004 a0002c0013t0001 a0003c0004t0001 a0006c0029t0001 a0020c0061t0005	a0001c0001t0035g0025 a0001c0009t0001g0009 a0001c0014t0004g0091 others(4): Show a0001c0001t0035g0025 a0001c0009t0001g0009 a0001c0014t0004g0091 a0002c0013t0001g0228 a0003c0004t0001g0165 a0006c0029t0001g0157 a0020c0061t0005g0214	7	268	0.0261	-12	c.-51 others(29): Show c.-51-7201_-51-7190delTAATAATAATAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64854324	GCTGGAGT others(5): Show GCTGGAGTGCAGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01192.hp2 others(20): Show HG00597.hp2 HG00609.hp1 HG01192.hp2 HG01243.hp2 HG01496.hp1 HG01928.hp2 HG01975.hp1 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02922.hp1 HG03139.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 NA18906.hp1 NA18960.hp2 NA19000.hp2 NA19007.hp1 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0016	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0002c0076 a0003c0079 a0004c0019 a0004c0051 a0013c0075 a0016c0050	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0009t0001 a0001c0009t0002 a0001c0009t0006 a0001c0009t0027 a0002c0076t0001 a0003c0079t0006 a0004c0019t0001 a0004c0051t0001 a0013c0075t0003 a0016c0050t0017	a0001c0001t0001g0008 a0001c0001t0003g0007 a0001c0001t0006g0012 others(20): Show a0001c0001t0001g0008 a0001c0001t0003g0007 a0001c0001t0006g0012 a0001c0002t0001g0040 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0009t0001g0009 a0001c0009t0001g0014 a0001c0009t0002g0010 a0001c0009t0002g0011 a0001c0009t0006g0013 a0001c0009t0027g0015 a0002c0076t0001g0175 a0003c0079t0006g0016 a0004c0019t0001g0042 a0004c0019t0001g0044 a0004c0019t0001g0045 a0004c0051t0001g0043 a0013c0075t0003g0176 a0016c0050t0017g0041	23	268	0.0858	-12	c.-52 others(31): Show c.-52+25456_-52+25467delACTGCACTCCAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859710	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0045 a0004c0019t0001g0045	1	268	0.0037	-12	c.-52 others(31): Show c.-52+20070_-52+20081delTAGAGAGAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859712	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02055.hp2 others(2): Show HG01192.hp2 HG01243.hp2 HG02055.hp2 HG02922.hp1 NA18906.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0002 a0004c0019 a0004c0051 others(1): Show a0001c0002 a0004c0019 a0004c0051 a0016c0050	a0001c0002t0001 a0004c0019t0001 a0004c0051t0001 others(1): Show a0001c0002t0001 a0004c0019t0001 a0004c0051t0001 a0016c0050t0017	a0001c0002t0001g0040 a0004c0019t0001g0042 a0004c0019t0001g0044 others(2): Show a0001c0002t0001g0040 a0004c0019t0001g0042 a0004c0019t0001g0044 a0004c0051t0001g0043 a0016c0050t0017g0041	5	268	0.0187	-12	c.-52 others(31): Show c.-52+20068_-52+20079delTATAGAGAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92038967	TAAAACAA others(5): Show TAAAACAAAAACA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	358	0.0028	-12	c.113 others(29): Show c.1137-614_1137-603delTGTTTTTGTTTT	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	12/14			chr9	TogoVar
SPTLC1_chr9_92026147_92120413	92045524	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02895.hp2 HG03209.hp2 others(1): Show HG01081.hp2 HG02895.hp2 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0064	4	358	0.0112	-12	c.113 others(29): Show c.1136+463_1136+474delTTTTTTTTTTTT	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	12/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77513016	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG01891.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0002t0010g0066 a0001c0002t0010g0067	2	246	0.0081	-12	c.157 others(29): Show c.1570-625_1570-614delAAAAAAAAAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	11/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77515542	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(142): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0003t0023 a0001c0004t0004 a0001c0008t0033 a0001c0009t0004 a0001c0010t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(141): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0004g0111 a0001c0001t0004g0228 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0175 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0014g0100 a0001c0001t0014g0132 a0001c0001t0015g0131 a0001c0001t0015g0150 a0001c0001t0016g0069 a0001c0001t0016g0137 a0001c0001t0024g0220 a0001c0001t0027g0136 a0001c0001t0031g0043 a0001c0001t0032g0205 a0001c0001t0034g0091 a0001c0001t0035g0123 a0001c0001t0036g0084 a0001c0001t0039g0101 a0001c0001t0044g0047 a0001c0001t0045g0164 a0001c0001t0046g0233 a0001c0001t0050g0237 a0001c0002t0001g0104 a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0023g0133 a0001c0004t0004g0011 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0190 a0001c0008t0033g0049 a0001c0009t0004g0063 a0001c0010t0004g0230	145	246	0.5894	-12	c.156 others(31): Show c.1569+2484_1569+2495delAAAAAAAAAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	11/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77541015	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA19043.hp2 HG01168.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0005 a0001c0001t0032	a0001c0001t0005g0074 a0001c0001t0032g0205 a0001c0001t0005g0074 a0001c0001t0032g0205	2	246	0.0081	-12	c.130 others(33): Show c.1303+11069_1303+11080delTAAATAAATAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564287	AAGGAGGA others(5): Show AAGGAGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00733.hp1 others(58): Show HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA19030.hp1 NA19087.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0003t0001 a0001c0005t0007 a0001c0005t0037 a0001c0005t0038 a0001c0006t0018 a0001c0010t0004	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(58): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0193 a0001c0001t0001g0217 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0065 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0168 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0226 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0005g0045 a0001c0001t0005g0182 a0001c0001t0006g0053 a0001c0001t0012g0225 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0019g0245 a0001c0001t0025g0020 a0001c0001t0026g0160 a0001c0001t0045g0164 a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 a0001c0001t0049g0232 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0005t0007g0242 a0001c0005t0037g0055 a0001c0005t0038g0139 a0001c0006t0018g0018 a0001c0010t0004g0230	61	246	0.2480	-12	c.757 others(29): Show c.757-1810_757-1799delCCTCTTCCTCCT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564400	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01109.hp1 others(25): Show HG00642.hp1 HG00738.hp1 HG01109.hp1 HG01167.hp1 HG01256.hp1 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02895.hp2 HG02970.hp2 HG03017.hp2 HG03516.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA19030.hp1 NA19087.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(25): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0193 a0001c0001t0002g0071 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0065 a0001c0001t0003g0122 a0001c0001t0004g0029 a0001c0001t0005g0045 a0001c0001t0005g0182 a0001c0001t0006g0053 a0001c0001t0013g0027 a0001c0001t0013g0028	28	246	0.1138	-12	c.757 others(29): Show c.757-1923_757-1912delGTGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77588996	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	246	0.0041	-12	c.327 others(29): Show c.327+8178_327+8189delTTTTTTTTTTTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13027641	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp1 HG02280.hp2 others(5): Show HG00609.hp2 HG01891.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG03139.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0003 a0001c0003t0011 a0001c0005t0001 others(4): Show a0001c0001t0003 a0001c0003t0011 a0001c0005t0001 a0001c0005t0005 a0001c0005t0016 a0001c0005t0030 a0001c0005t0048	a0001c0001t0003g0135 a0001c0003t0011g0082 a0001c0005t0001g0080 others(5): Show a0001c0001t0003g0135 a0001c0003t0011g0082 a0001c0005t0001g0080 a0001c0005t0005g0069 a0001c0005t0005g0081 a0001c0005t0016g0147 a0001c0005t0030g0285 a0001c0005t0048g0164	8	292	0.0274	-12	c.117 others(31): Show c.117+18285_117+18296delACACACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13044995	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp1 HG03041.hp2 HG01168.hp1 HG01192.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0027 a0001c0001t0022 a0001c0001t0027	a0001c0001t0022g0129 a0001c0001t0022g0130 a0001c0001t0027g0268 a0001c0001t0022g0129 a0001c0001t0022g0130 a0001c0001t0027g0268	3	292	0.0103	-12	c.118 others(29): Show c.118-3920_118-3909delACACACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13064284	GTTTTGTT others(5): Show GTTTTGTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02258.hp1 HG02451.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0021 a0005c0011t0023 a0001c0001t0021 a0005c0011t0023	a0001c0001t0021g0064 a0005c0011t0023g0166 a0001c0001t0021g0064 a0005c0011t0023g0166	2	292	0.0069	-12	c.304 others(29): Show c.304-7938_304-7927delTGTTTTTGTTTT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19086.hp1 NA19089.hp1 NA18957.hp2 NA19086.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0018 a0002c0002 a0002c0018	a0002c0002t0002 a0002c0018t0002 a0002c0002t0002 a0002c0018t0002	a0002c0002t0002g0029 a0002c0002t0002g0062 a0002c0018t0002g0054 a0002c0002t0002g0029 a0002c0002t0002g0062 a0002c0018t0002g0054	3	292	0.0103	-12	c.304 others(29): Show c.304-5165_304-5154delATATATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG03516.hp1 others(2): Show HG02572.hp1 HG02886.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0016g0324	5	344	0.0145	-12	c.113 others(29): Show c.113-7842_113-7831delACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04184.hp1 HG01243.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0111 a0001c0001t0008g0131 a0001c0001t0003g0111 a0001c0001t0008g0131	2	344	0.0058	-12	c.113 others(29): Show c.113-8214_113-8203delACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462894	GCACACAC others(5): Show GCACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 NA18747.hp2 HG00639.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0185 a0001c0001t0018g0012 a0001c0001t0001g0185 a0001c0001t0018g0012	2	344	0.0058	-12	c.-69 others(21): Show c.-699_-688delTGTGTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		655		chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462930	ACACACAC others(5): Show ACACACACACACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02559.hp1 HG02647.hp1 others(10): Show HG01192.hp1 HG02559.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18943.hp1 NA18991.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0002t0007	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 others(10): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0002g0032 a0001c0001t0002g0051 a0001c0001t0003g0120 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0016g0324 a0001c0002t0007g0014	13	344	0.0378	-12	c.-73 others(21): Show c.-735_-724delGGTGTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		691		chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34467217	AACACACA others(5): Show AACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(58): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01346.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18956.hp1 NA18999.hp1 NA19000.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0129 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0066 a0001c0001t0002g0196 a0001c0001t0004g0312 a0001c0001t0008g0282 a0001c0001t0008g0283 a0001c0001t0008g0319 a0001c0001t0013g0321 a0001c0001t0013g0322 a0001c0001t0016g0324 a0001c0001t0018g0012 a0001c0001t0020g0119 a0001c0003t0001g0330 a0001c0003t0001g0331	61	344	0.1773	-12	c.-50 others(23): Show c.-5022_-5011delGTGTGTGTGTGT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		4978		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161351601	GAGAGAGA others(5): Show GAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG04184.hp2 NA18612.hp1 others(1): Show HG02074.hp2 HG04184.hp2 NA18612.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0283	4	412	0.0097	-12	c.-32 others(29): Show c.-32-5258_-32-5247delTTCTCTCTCTCT	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	2/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369306	CTTTCTTT others(5): Show CTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	412	0.0024	-12	c.-12 others(31): Show c.-126+2117_-126+2128delAAGAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369308	TTCTTTCT others(5): Show TTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0074 a0001c0001t0015g0074	1	412	0.0024	-12	c.-12 others(31): Show c.-126+2115_-126+2126delGAAAGAGAAAGA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369310	CTTTCTCT others(5): Show CTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	412	0.0024	-12	c.-12 others(31): Show c.-126+2113_-126+2124delAAGAAAGAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369385	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(74): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02698.hp1 HG02735.hp1 HG02896.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18939.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18954.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18977.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 a0001c0001t0001 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0282 a0001c0001t0012g0206 a0001c0001t0021g0214	77	412	0.1869	-12	c.-12 others(31): Show c.-126+2038_-126+2049delAAAAAAAAAAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	CAGAAAAG others(5): Show CAGAAAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp1 HG02109.hp2 others(14): Show HG01255.hp2 HG01496.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0017 others(9): Show a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0003g0113	17	444	0.0383	-12	c.61- others(27): Show c.61-4346_61-4335delCTTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPX_chr12_21521296_21537947	21534539	AAGAAATA others(5): Show AAGAAATAAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	428	0.0023	-12	c.33 others(23): Show c.3345_*3356delAGAAATAAAGAG	SPX	ENSG00000134548.11	transcript	ENST00000256969.7	protein_coding		1593		chr12	TogoVar
SQLE_chr8_124993505_125027283	125001478	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04115.hp1 HG02015.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	378	0.0053	-12	c.292 others(29): Show c.292-1696_292-1685delGTGTGTGTGTAT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQOR_chr15_45630029_45696281	45683892	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	340	0.0029	-12	c.104 others(31): Show c.1048+1247_1048+1258delGTTTGTTTGTTT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18963.hp2 HG01891.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0232 a0001c0002t0002g0097 a0001c0001t0001g0232 a0001c0002t0002g0097	2	462	0.0043	-12	c.302 others(27): Show c.302-389_302-378delAAAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRBD1_chr2_45383680_45616267	45415345	CATATAGT others(5): Show CATATAGTGTGTA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	358	0.0028	-12	c.233 others(31): Show c.2334-2064_2334-2053delTACACACTATAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar

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