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
SPRR5_chr1_152942206_152954255	152948232	T T	TTCTTC TTCTTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18973.hp2 NA18990.hp1 others(3): Show NA18971.hp1 NA18973.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp2 NA19078.hp2	a0007 a0012 a0007 a0012	a0007c0006 a0012c0012 a0007c0006 a0012c0012	a0007c0006t0006 a0012c0012t0006 a0007c0006t0006 a0012c0012t0006	a0007c0006t0006g0010 a0007c0006t0006g0011 a0012c0012t0006g0011 a0007c0006t0006g0010 a0007c0006t0006g0011 a0012c0012t0006g0011	6	434	0.0138	5	c.-18 others(20): Show c.-18-301_-18-300insCTCTT	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRR5_chr1_152942206_152954255	152949318	T T	TTGTTG TTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp2 others(4): Show HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG03209.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0008 a0004c0004t0005g0013 a0004c0004t0005g0020 a0004c0004t0005g0008 a0004c0004t0005g0013 a0004c0004t0005g0020	7	434	0.0161	5	c.43 others(14): Show c.437_*438insTGTTG	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding		64		chr1	TogoVar
SPRY1_chr4_123391795_123408755	123392545	C C	CTTTTT CTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02074.hp1 HG02895.hp2 others(11): Show HG01255.hp1 HG02074.hp1 HG02895.hp2 HG03471.hp1 HG03579.hp1 HG03704.hp2 HG03927.hp1 NA18940.hp2 NA18991.hp1 NA18998.hp1 NA19066.hp1 NA19082.hp2 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0003g0005 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0004g0006 a0001c0001t0022g0022	14	104	0.1346	5	c.-46 others(16): Show c.-4689_-4688insTTTTT	SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding		4249		chr4	TogoVar
SPRY3_chrX_155607586_155787459	155680191	T T	TGTGTG TGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03516.hp1 HG01517.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0073 a0001c0001t0001 a0001c0001t0073	a0001c0001t0001g0026 a0001c0001t0073g0014 a0001c0001t0001g0026 a0001c0001t0073g0014	2	214	0.0093	5	c.-28 others(26): Show c.-282+67544_-282+67545insGTGTG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155716596	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 HG02451.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 a0001c0001t0007 a0001c0001t0039 a0001c0001t0040	a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096 a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096	3	229	0.0131	5	c.-28 others(26): Show c.-281-51361_-281-51357dupGTTTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	G G	GAAATA GAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(31): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG01106.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp2 HG02293.hp1 HG02559.hp2 HG02683.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18957.hp1 NA18962.hp1 NA18995.hp1 NA19012.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp1 NA19075.hp1 NA19081.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0036 a0001c0001t0050 a0001c0001t0052 a0001c0001t0060 a0001c0001t0062 a0001c0001t0077 a0001c0001t0093 a0001c0001t0097 a0001c0001t0102 a0001c0001t0106 a0001c0001t0108 a0001c0001t0119 a0001c0001t0127 a0001c0001t0130 a0001c0001t0141 a0001c0001t0144 a0001c0002t0128 a0001c0002t0137	a0001c0001t0001g0145 a0001c0001t0001g0223 a0001c0001t0002g0125 others(31): Show a0001c0001t0001g0145 a0001c0001t0001g0223 a0001c0001t0002g0125 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0003g0083 a0001c0001t0004g0101 a0001c0001t0004g0181 a0001c0001t0005g0139 a0001c0001t0007g0113 a0001c0001t0010g0152 a0001c0001t0012g0174 a0001c0001t0019g0208 a0001c0001t0026g0081 a0001c0001t0028g0225 a0001c0001t0036g0122 a0001c0001t0036g0210 a0001c0001t0050g0173 a0001c0001t0052g0183 a0001c0001t0060g0150 a0001c0001t0062g0190 a0001c0001t0077g0077 a0001c0001t0093g0078 a0001c0001t0097g0214 a0001c0001t0102g0165 a0001c0001t0106g0226 a0001c0001t0108g0141 a0001c0001t0119g0102 a0001c0001t0127g0187 a0001c0001t0130g0203 a0001c0001t0141g0194 a0001c0001t0144g0159 a0001c0002t0128g0012 a0001c0002t0137g0131	34	61	0.5574	5	c.-28 others(26): Show c.-281-15980_-281-15976dupATAAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRYD7_chr13_49907702_49941340	49918414	T T	TTTTTC TTTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02965.hp2 others(4): Show HG02451.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0107 a0001c0001t0003g0132 a0001c0001t0003g0012 a0001c0001t0003g0107 a0001c0001t0003g0132	7	378	0.0185	5	c.493 others(22): Show c.493+3063_493+3064insGAAAA	SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding	4/4			chr13	TogoVar
SPRYD7_chr13_49907702_49941340	49920249	G G	GCAAAA GCAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01433.hp1 others(37): Show HG00408.hp2 HG00423.hp2 HG01433.hp1 HG01891.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02717.hp1 HG03139.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp1 HG04204.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp2 NA18965.hp1 NA18970.hp2 NA18974.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA19012.hp1 NA19058.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19081.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0002t0003	a0001c0001t0001g0151 a0001c0001t0002g0119 a0001c0001t0003g0006 others(20): Show a0001c0001t0001g0151 a0001c0001t0002g0119 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0023 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0128 a0001c0001t0003g0161 a0001c0001t0018g0101 a0001c0002t0003g0092	40	313	0.1278	5	c.493 others(22): Show c.493+1224_493+1228dupTTTTG	SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding	4/4			chr13	TogoVar
SPSB3_chr16_1771712_1787571	1771809	G G	GCCCCC GCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(27): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG01081.hp2 HG01496.hp2 HG01884.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02735.hp1 HG03710.hp1 HG04184.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19078.hp2 NA19081.hp1 NA19090.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0001 a0001c0002t0001 a0004c0014t0001 a0001c0001t0001 a0001c0002t0001 a0004c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0002t0001g0002 a0004c0014t0001g0075	30	374	0.0802	5	c.52 others(16): Show c.5287_*5288insGGGGG	SPSB3	ENSG00000162032.16	transcript	ENST00000566339.6	protein_coding		4902		chr16	TogoVar
SPSB4_chr3_141046347_141153611	141112644	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG02486.hp1 others(3): Show HG00639.hp1 HG01891.hp2 HG02486.hp1 NA18968.hp2 NA18979.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0003t0016	a0001c0001t0002g0056 a0001c0001t0002g0171 a0001c0001t0002g0172 others(3): Show a0001c0001t0002g0056 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0010g0163 a0001c0001t0015g0175 a0001c0003t0016g0021	6	103	0.0583	5	c.695 others(24): Show c.695-34477_695-34473dupAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128560084	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02486.hp2 others(9): Show HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG03195.hp2 HG03579.hp1 NA18972.hp2 NA18977.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0001 a0001c0022t0001 a0001c0002t0001 a0001c0022t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(9): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0269 a0001c0022t0001g0260	12	26	0.4615	5	c.-3- others(20): Show c.-3-6643_-3-6639dupTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(29): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG01123.hp1 HG01361.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02897.hp1 HG03130.hp2 HG03669.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18949.hp2 NA18957.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19009.hp2 NA19043.hp2 NA19063.hp2 NA19083.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0021 a0001c0024 others(3): Show a0001c0002 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0002c0004	a0001c0002t0001 a0001c0021t0001 a0001c0024t0001 others(3): Show a0001c0002t0001 a0001c0021t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0002c0004t0002	a0001c0002t0001g0005 a0001c0002t0001g0174 a0001c0002t0001g0179 others(29): Show a0001c0002t0001g0005 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0255 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0308 a0001c0021t0001g0304 a0001c0024t0001g0196 a0001c0025t0001g0182 a0001c0026t0001g0209 a0002c0004t0002g0274	32	53	0.6038	5	c.-3- others(20): Show c.-3-5054_-3-5050dupAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54457153	G G	GCCCCC GCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp2 others(37): Show HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00738.hp1 HG01168.hp1 HG01884.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG03139.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19067.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0001c0026 a0004c0034 a0006c0022 a0008c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0029 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0003t0003 a0001c0003t0027 a0001c0004t0004 a0001c0007t0001 a0001c0007t0013 a0001c0008t0005 a0001c0009t0010 a0001c0016t0005 a0001c0026t0006 a0004c0034t0001 a0006c0022t0052 a0008c0028t0001	a0001c0001t0001g0082 a0001c0001t0002g0007 a0001c0001t0002g0078 others(37): Show a0001c0001t0001g0082 a0001c0001t0002g0007 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0005g0106 a0001c0001t0014g0096 a0001c0001t0014g0104 a0001c0001t0014g0105 a0001c0001t0029g0100 a0001c0001t0050g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0103 a0001c0002t0004g0101 a0001c0002t0006g0089 a0001c0003t0003g0304 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0004t0004g0092 a0001c0004t0004g0098 a0001c0004t0004g0107 a0001c0007t0001g0081 a0001c0007t0013g0108 a0001c0008t0005g0306 a0001c0009t0010g0084 a0001c0016t0005g0099 a0001c0026t0006g0102 a0004c0034t0001g0002 a0006c0022t0052g0083 a0008c0028t0001g0006	40	111	0.3604	5	c.-48 others(20): Show c.-48+641_-48+645dupCCCCC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54471800	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00609.hp2 HG01109.hp2 HG01168.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02135.hp2 HG02258.hp2 HG02698.hp2 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18950.hp1 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0025 a0001c0026 a0009c0024	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 others(18): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0027 a0001c0003t0033 a0001c0003t0036 a0001c0004t0004 a0001c0005t0012 a0001c0005t0021 a0001c0008t0005 a0001c0011t0003 a0001c0011t0023 a0001c0012t0016 a0001c0013t0015 a0001c0025t0003 a0001c0026t0006 a0009c0024t0009	a0001c0001t0002g0351 a0001c0001t0010g0238 a0001c0002t0001g0231 others(38): Show a0001c0001t0002g0351 a0001c0001t0010g0238 a0001c0002t0001g0231 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0256 a0001c0003t0003g0305 a0001c0003t0003g0319 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0004t0004g0107 a0001c0004t0004g0358 a0001c0005t0012g0370 a0001c0005t0021g0040 a0001c0008t0005g0306 a0001c0011t0003g0171 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0012t0016g0135 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263 a0001c0025t0003g0352 a0001c0026t0006g0102 a0009c0024t0009g0232	41	47	0.8723	5	c.-48 others(24): Show c.-48+15297_-48+15301dupTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54472022	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp2 HG02451.hp2 others(10): Show HG01167.hp2 HG01255.hp2 HG02451.hp2 HG02886.hp2 HG03209.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18963.hp1 NA19001.hp1 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0001 a0001c0005t0008 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0005t0008 a0001c0005t0011	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(10): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0002t0001g0146 a0001c0002t0001g0307 a0001c0002t0001g0326 a0001c0002t0001g0329 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0062 a0001c0005t0011g0253	13	67	0.1940	5	c.-48 others(24): Show c.-48+15523_-48+15527dupTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54530353	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(31): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG01106.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG02015.hp2 HG02135.hp2 HG02258.hp2 HG02698.hp2 HG02965.hp1 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 NA18906.hp2 NA18940.hp1 NA18950.hp1 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA19002.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0003c0027 a0009c0024	a0001c0002t0001 a0001c0002t0004 a0001c0002t0028 others(11): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0028 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0033 a0001c0003t0036 a0001c0011t0003 a0001c0011t0023 a0003c0027t0003 a0009c0024t0009	a0001c0002t0001g0331 a0001c0002t0004g0101 a0001c0002t0028g0295 others(31): Show a0001c0002t0001g0331 a0001c0002t0004g0101 a0001c0002t0028g0295 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0284 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0004g0024 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0011t0003g0171 a0001c0011t0023g0229 a0001c0011t0023g0230 a0003c0027t0003g0075 a0009c0024t0009g0232	34	98	0.3469	5	c.148 others(22): Show c.148+3806_148+3810dupTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54553538	C C	CTGTGG CTGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp2 HG02280.hp1 others(2): Show HG00738.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0019 a0001c0001t0050 a0001c0008t0026 a0001c0001t0019 a0001c0001t0050 a0001c0008t0026	a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0001t0019g0241 others(2): Show a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0001t0019g0241 a0001c0001t0050g0076 a0001c0008t0026g0364	5	368	0.0136	5	c.148 others(24): Show c.148+26974_148+26978dupGTGGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(51): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01884.hp1 HG02015.hp2 HG02135.hp2 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02698.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.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 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0025 a0002c0006 a0003c0027 a0009c0024	a0001c0001t0003 a0001c0001t0007 a0001c0001t0044 others(13): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0044 a0001c0003t0003 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0036 a0001c0009t0007 a0001c0011t0003 a0001c0011t0023 a0001c0025t0003 a0002c0006t0003 a0003c0027t0003 a0009c0024t0009	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(51): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0007g0197 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0044g0297 a0001c0003t0003g0008 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0177 a0001c0003t0003g0251 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0284 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0360 a0001c0003t0003g0366 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0036g0361 a0001c0009t0007g0285 a0001c0009t0007g0286 a0001c0011t0003g0171 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0025t0003g0352 a0002c0006t0003g0013 a0002c0006t0003g0016 a0002c0006t0003g0141 a0002c0006t0003g0151 a0002c0006t0003g0153 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0186 a0002c0006t0003g0187 a0002c0006t0003g0188 a0003c0027t0003g0075 a0009c0024t0009g0232	54	182	0.2967	5	c.149 others(24): Show c.149-23024_149-23020dupTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG02055.hp1 others(14): Show HG00738.hp1 HG01346.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0013	a0001c0001t0018 a0001c0001t0019 a0001c0001t0050 others(5): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0050 a0001c0001t0051 a0001c0005t0031 a0001c0008t0005 a0001c0008t0026 a0001c0013t0015	a0001c0001t0018g0189 a0001c0001t0018g0303 a0001c0001t0019g0031 others(14): Show a0001c0001t0018g0189 a0001c0001t0018g0303 a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0001t0050g0076 a0001c0001t0051g0242 a0001c0005t0031g0182 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0364 a0001c0008t0026g0365 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263	17	79	0.2152	5	c.149 others(24): Show c.149-17496_149-17492dupTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54642529	G G	GTTTGT GTTTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02895.hp2 HG03225.hp1 others(11): Show HG02602.hp1 HG02895.hp2 HG03225.hp1 HG04204.hp1 HG04228.hp1 NA18945.hp1 NA18955.hp2 NA18957.hp2 NA18974.hp1 NA18989.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19090.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0012 a0002c0006 a0010c0032 a0001c0012 a0002c0006 a0010c0032	a0001c0012t0016 a0002c0006t0003 a0010c0032t0004 a0001c0012t0016 a0002c0006t0003 a0010c0032t0004	a0001c0012t0016g0026 a0001c0012t0016g0135 a0001c0012t0016g0181 others(11): Show a0001c0012t0016g0026 a0001c0012t0016g0135 a0001c0012t0016g0181 a0002c0006t0003g0013 a0002c0006t0003g0016 a0002c0006t0003g0141 a0002c0006t0003g0153 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0186 a0002c0006t0003g0187 a0002c0006t0003g0188 a0002c0006t0003g0200 a0010c0032t0004g0327	14	319	0.0439	5	c.385 others(22): Show c.3859-451_3859-450insGTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	18/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54642529	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp1 HG02280.hp2 others(3): Show HG00738.hp1 HG02280.hp1 HG02280.hp2 HG02809.hp2 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0010 a0001c0001t0019 a0001c0001t0050 others(1): Show a0001c0001t0010 a0001c0001t0019 a0001c0001t0050 a0001c0012t0016	a0001c0001t0010g0238 a0001c0001t0019g0031 a0001c0001t0019g0185 others(3): Show a0001c0001t0010g0238 a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0001t0019g0241 a0001c0001t0050g0076 a0001c0012t0016g0152	6	311	0.0193	5	c.385 others(22): Show c.3859-440_3859-436dupTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	18/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40473354	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG01891.hp2 others(3): Show HG00741.hp2 HG01891.hp1 HG01891.hp2 HG03098.hp2 HG03516.hp2 HG06807.hp2	a0004 a0005 a0008 others(1): Show a0004 a0005 a0008 a0010	a0004c0007 a0005c0009 a0008c0013 others(1): Show a0004c0007 a0005c0009 a0008c0013 a0010c0032	a0004c0007t0003 a0005c0009t0001 a0008c0013t0001 others(1): Show a0004c0007t0003 a0005c0009t0001 a0008c0013t0001 a0010c0032t0001	a0004c0007t0003g0002 a0005c0009t0001g0001 a0005c0009t0001g0148 others(3): Show a0004c0007t0003g0002 a0005c0009t0001g0001 a0005c0009t0001g0148 a0008c0013t0001g0142 a0008c0013t0001g0147 a0010c0032t0001g0006	6	150	0.0400	5	c.169 others(20): Show c.169+580_169+584dupTTTTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40491713	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp2 HG02040.hp2 others(15): Show HG01109.hp2 HG01257.hp2 HG02040.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02486.hp2 HG02809.hp1 HG02897.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG04184.hp2 NA18970.hp2 NA18983.hp1 NA19088.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0016	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0006 a0003c0018 a0004c0011 a0009c0030 a0016c0022	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0008t0001 a0002c0003t0001 a0003c0006t0001 a0003c0006t0004 a0003c0018t0001 a0004c0011t0001 a0009c0030t0007 a0016c0022t0001	a0001c0001t0001g0203 a0001c0002t0001g0022 a0001c0002t0005g0193 others(15): Show a0001c0001t0001g0203 a0001c0002t0001g0022 a0001c0002t0005g0193 a0001c0008t0001g0166 a0002c0003t0001g0030 a0002c0003t0001g0222 a0003c0006t0001g0081 a0003c0006t0001g0151 a0003c0006t0001g0212 a0003c0006t0001g0215 a0003c0006t0001g0216 a0003c0006t0001g0217 a0003c0006t0001g0229 a0003c0006t0004g0076 a0003c0018t0001g0234 a0004c0011t0001g0137 a0009c0030t0007g0172 a0016c0022t0001g0012	18	108	0.1667	5	c.496 others(22): Show c.496-1229_496-1225dupAAAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40544440	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG02055.hp1 others(3): Show HG01070.hp2 HG01123.hp1 HG02055.hp1 HG02258.hp2 HG03453.hp1 NA19043.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0013 a0014	a0002c0004 a0003c0005 a0004c0011 others(2): Show a0002c0004 a0003c0005 a0004c0011 a0013c0046 a0014c0031	a0002c0004t0001 a0003c0005t0001 a0004c0011t0001 others(2): Show a0002c0004t0001 a0003c0005t0001 a0004c0011t0001 a0013c0046t0001 a0014c0031t0001	a0002c0004t0001g0050 a0003c0005t0001g0211 a0004c0011t0001g0137 others(3): Show a0002c0004t0001g0050 a0003c0005t0001g0211 a0004c0011t0001g0137 a0004c0011t0001g0141 a0013c0046t0001g0153 a0014c0031t0001g0057	6	72	0.0833	5	c.436 others(24): Show c.4360-4729_4360-4725dupTTTTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	20/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40565271	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01074.hp2 others(17): Show HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp2 HG02074.hp1 HG02135.hp1 HG02738.hp2 HG03017.hp2 NA18967.hp1 NA18983.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19054.hp1 NA19064.hp1 NA19077.hp2 NA19081.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0038 a0004c0007 others(1): Show a0001c0001 a0001c0038 a0004c0007 a0016c0022	a0001c0001t0001 a0001c0038t0001 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0038t0001 a0004c0007t0001 a0016c0022t0001	a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0038t0001g0105 a0004c0007t0001g0004 a0016c0022t0001g0012	20	206	0.0971	5	c.591 others(22): Show c.5916-128_5916-124dupAGAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN5_chr15_41843146_41899053	41851581	T T	TGGCGG TGGCGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp1 others(59): Show HG00140.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG02040.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0003 a0006 a0008 others(20): Show a0003 a0006 a0008 a0009 a0022 a0030 a0031 a0032 a0036 a0038 a0041 a0044 a0047 a0055 a0064 a0073 a0084 a0086 a0092 a0105 a0129 a0136 a0138	a0003c0003 a0003c0120 a0006c0010 others(22): Show a0003c0003 a0003c0120 a0006c0010 a0006c0153 a0008c0009 a0009c0008 a0022c0023 a0030c0028 a0031c0040 a0032c0034 a0036c0033 a0038c0039 a0041c0027 a0044c0145 a0047c0041 a0055c0068 a0064c0131 a0073c0150 a0084c0090 a0086c0116 a0092c0071 a0105c0047 a0129c0149 a0136c0101 a0138c0063	a0003c0003t0002 a0003c0120t0002 a0006c0010t0002 others(22): Show a0003c0003t0002 a0003c0120t0002 a0006c0010t0002 a0006c0153t0002 a0008c0009t0002 a0009c0008t0002 a0022c0023t0002 a0030c0028t0002 a0031c0040t0002 a0032c0034t0002 a0036c0033t0001 a0038c0039t0002 a0041c0027t0002 a0044c0145t0002 a0047c0041t0005 a0055c0068t0002 a0064c0131t0002 a0073c0150t0002 a0084c0090t0002 a0086c0116t0001 a0092c0071t0002 a0105c0047t0002 a0129c0149t0001 a0136c0101t0002 a0138c0063t0002	a0003c0003t0002g0007 a0003c0003t0002g0020 a0003c0003t0002g0021 others(50): Show a0003c0003t0002g0007 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0098 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0216 a0003c0003t0002g0224 a0003c0120t0002g0156 a0006c0010t0002g0014 a0006c0010t0002g0062 a0006c0010t0002g0064 a0006c0010t0002g0066 a0006c0010t0002g0070 a0006c0010t0002g0071 a0006c0153t0002g0220 a0008c0009t0002g0170 a0008c0009t0002g0171 a0009c0008t0002g0035 a0009c0008t0002g0291 a0009c0008t0002g0292 a0009c0008t0002g0293 a0009c0008t0002g0295 a0022c0023t0002g0096 a0022c0023t0002g0142 a0022c0023t0002g0146 a0030c0028t0002g0298 a0031c0040t0002g0231 a0031c0040t0002g0232 a0032c0034t0002g0031 a0036c0033t0001g0300 a0038c0039t0002g0019 a0041c0027t0002g0036 a0044c0145t0002g0052 a0047c0041t0005g0053 a0055c0068t0002g0294 a0064c0131t0002g0247 a0073c0150t0002g0077 a0084c0090t0002g0047 a0086c0116t0001g0175 a0092c0071t0002g0303 a0105c0047t0002g0041 a0129c0149t0001g0051 a0136c0101t0002g0178 a0138c0063t0002g0302	62	224	0.2768	5	c.106 others(24): Show c.10656+197_10656+198insCCGCC	SPTBN5	ENSG00000137877.10	transcript	ENST00000320955.8	protein_coding	63/67			chr15	TogoVar
SPTBN5_chr15_41843146_41899053	41893099	G G	GCCCAT GCCCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG01192.hp1 others(36): Show HG00609.hp2 HG01109.hp2 HG01192.hp1 HG01928.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02155.hp1 HG02273.hp1 HG02523.hp1 HG02615.hp2 HG02976.hp2 HG03239.hp1 HG03471.hp1 NA18962.hp2 NA18963.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1	a0005 a0006 a0044 others(14): Show a0005 a0006 a0044 a0046 a0047 a0062 a0066 a0073 a0078 a0084 a0096 a0104 a0122 a0123 a0127 a0129 a0131	a0005c0005 a0005c0155 a0006c0010 others(17): Show a0005c0005 a0005c0155 a0006c0010 a0006c0151 a0044c0144 a0044c0145 a0046c0042 a0047c0041 a0062c0147 a0066c0146 a0073c0150 a0078c0152 a0084c0090 a0096c0142 a0104c0141 a0122c0154 a0123c0148 a0127c0143 a0129c0149 a0131c0156	a0005c0005t0001 a0005c0005t0007 a0005c0005t0009 others(19): Show a0005c0005t0001 a0005c0005t0007 a0005c0005t0009 a0005c0155t0001 a0006c0010t0002 a0006c0151t0002 a0044c0144t0002 a0044c0145t0002 a0046c0042t0001 a0047c0041t0005 a0062c0147t0001 a0066c0146t0001 a0073c0150t0002 a0078c0152t0001 a0084c0090t0002 a0096c0142t0001 a0104c0141t0002 a0122c0154t0001 a0123c0148t0001 a0127c0143t0001 a0129c0149t0001 a0131c0156t0001	a0005c0005t0001g0005 a0005c0005t0001g0013 a0005c0005t0001g0050 others(32): Show a0005c0005t0001g0005 a0005c0005t0001g0013 a0005c0005t0001g0050 a0005c0005t0001g0057 a0005c0005t0001g0061 a0005c0005t0001g0074 a0005c0005t0007g0039 a0005c0005t0009g0060 a0005c0155t0001g0068 a0006c0010t0002g0014 a0006c0010t0002g0062 a0006c0010t0002g0064 a0006c0010t0002g0066 a0006c0010t0002g0069 a0006c0010t0002g0070 a0006c0010t0002g0071 a0006c0151t0002g0065 a0044c0144t0002g0056 a0044c0145t0002g0052 a0046c0042t0001g0075 a0046c0042t0001g0076 a0047c0041t0005g0053 a0047c0041t0005g0054 a0062c0147t0001g0059 a0066c0146t0001g0058 a0073c0150t0002g0077 a0078c0152t0001g0063 a0084c0090t0002g0047 a0096c0142t0001g0049 a0104c0141t0002g0048 a0122c0154t0001g0067 a0123c0148t0001g0073 a0127c0143t0001g0055 a0129c0149t0001g0051 a0131c0156t0001g0072	39	394	0.0990	5	c.217 others(18): Show c.217-39_217-38insATGGG	SPTBN5	ENSG00000137877.10	transcript	ENST00000320955.8	protein_coding	2/67			chr15	TogoVar
SPTB_chr14_64741283_64884907	64752288	C C	CCTCCT CCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 NA19007.hp2 HG00438.hp1 HG00597.hp1 NA19007.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0226 a0004c0008t0001g0036 a0004c0008t0001g0097 a0001c0001t0001g0226 a0004c0008t0001g0036 a0004c0008t0001g0097	3	266	0.0113	5	c.660 others(24): Show c.6602+1244_6602+1248dupAGGAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77513016	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01069.hp2 others(13): Show HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01109.hp1 HG01257.hp2 HG01516.hp1 HG01978.hp2 HG02109.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp2 HG03130.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0002t0007 a0001c0005t0007	a0001c0001t0001g0058 a0001c0001t0001g0139 a0001c0001t0001g0165 others(13): Show a0001c0001t0001g0058 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0217 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0116 a0001c0001t0003g0185 a0001c0001t0009g0084 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0016g0068 a0001c0001t0019g0245 a0001c0002t0007g0241 a0001c0002t0007g0243 a0001c0005t0007g0242	16	42	0.3810	5	c.157 others(22): Show c.1570-618_1570-614dupAAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	11/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77518596	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(40): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01884.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp2 NA18953.hp2 NA18954.hp1 NA19043.hp2 NA19081.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(12): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0040 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0020 a0001c0003t0017 a0001c0005t0007 a0001c0005t0037 a0001c0005t0038	a0001c0001t0005g0045 a0001c0001t0005g0073 a0001c0001t0005g0127 others(40): Show a0001c0001t0005g0045 a0001c0001t0005g0073 a0001c0001t0005g0127 a0001c0001t0005g0175 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0223 a0001c0001t0006g0053 a0001c0001t0006g0154 a0001c0001t0008g0118 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0008g0172 a0001c0001t0011g0105 a0001c0001t0021g0003 a0001c0001t0040g0222 a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0006g0104 a0001c0002t0006g0108 a0001c0002t0006g0109 a0001c0002t0006g0111 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0114 a0001c0002t0006g0123 a0001c0002t0006g0153 a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0241 a0001c0002t0007g0243 a0001c0002t0017g0214 a0001c0002t0020g0002 a0001c0003t0017g0063 a0001c0005t0007g0242 a0001c0005t0037g0055 a0001c0005t0038g0138	43	66	0.6515	5	c.144 others(22): Show c.1440-434_1440-430dupTTTTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	10/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77550594	G G	GGAAAA GGAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01168.hp2 others(33): Show HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG01975.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02293.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0002t0003 a0001c0004t0004 a0001c0010t0004	a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 others(33): Show a0001c0001t0001g0041 a0001c0001t0002g0070 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0064 a0001c0001t0003g0189 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0004g0016 a0001c0001t0005g0073 a0001c0001t0005g0127 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0181 a0001c0001t0005g0223 a0001c0001t0012g0225 a0001c0001t0012g0227 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0019g0245 a0001c0001t0021g0003 a0001c0001t0025g0019 a0001c0001t0026g0159 a0001c0001t0039g0100 a0001c0001t0040g0222 a0001c0001t0045g0163 a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 a0001c0001t0049g0232 a0001c0002t0003g0032 a0001c0002t0003g0061 a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0183 a0001c0010t0004g0230	36	244	0.1475	5	c.130 others(24): Show c.1303+1497_1303+1501dupTTTTC	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77553729	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp1 HG01069.hp2 others(25): Show HG00558.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01978.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp2 HG03710.hp2 HG03834.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 others(25): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0107 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0167 a0001c0001t0003g0184 a0001c0001t0003g0219 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0005g0073 a0001c0001t0014g0131 a0001c0001t0016g0068 a0001c0001t0016g0136	28	68	0.4118	5	c.117 others(24): Show c.1177-1512_1177-1508dupTTTTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	8/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77569793	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02622.hp1 others(4): Show HG02451.hp2 HG02572.hp2 HG02622.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0003t0017 a0001c0003t0023 others(1): Show a0001c0003t0001 a0001c0003t0017 a0001c0003t0023 a0001c0009t0004	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 others(4): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0021 a0001c0003t0017g0063 a0001c0003t0023g0132 a0001c0009t0004g0062	7	244	0.0287	5	c.756 others(20): Show c.756+586_756+590dupTATAT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77581405	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG01255.hp2 others(14): Show HG00323.hp2 HG00408.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01993.hp1 HG02572.hp1 HG02698.hp1 HG02818.hp2 HG04204.hp2 NA18747.hp1 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010	a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 others(14): Show a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0004g0110 a0001c0001t0008g0118 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0172 a0001c0002t0005g0187 a0001c0002t0006g0104 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0123 a0001c0002t0006g0153 a0001c0002t0010g0065	17	99	0.1717	5	c.328 others(22): Show c.328-2301_328-2297dupAAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77610137	G G	GGTTTT GGTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(66): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG02071.hp1 HG02109.hp2 HG02148.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18946.hp2 NA18953.hp2 NA19030.hp1 NA19043.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0035 a0001c0001t0040 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0019 a0001c0002t0020 a0001c0002t0029 a0001c0002t0051 a0001c0003t0001 a0001c0004t0004 a0001c0005t0007 a0001c0009t0004 a0001c0010t0004 a0001c0011t0041	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0107 others(66): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0110 a0001c0001t0004g0228 a0001c0001t0005g0223 a0001c0001t0008g0118 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0012g0225 a0001c0001t0012g0227 a0001c0001t0019g0245 a0001c0001t0024g0220 a0001c0001t0035g0122 a0001c0001t0040g0222 a0001c0001t0050g0237 a0001c0002t0001g0103 a0001c0002t0002g0224 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0006g0104 a0001c0002t0006g0108 a0001c0002t0006g0109 a0001c0002t0006g0111 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0114 a0001c0002t0006g0123 a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0241 a0001c0002t0007g0243 a0001c0002t0019g0235 a0001c0002t0020g0002 a0001c0002t0029g0186 a0001c0002t0051g0244 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0004t0004g0190 a0001c0005t0007g0242 a0001c0009t0004g0062 a0001c0010t0004g0230 a0001c0011t0041g0078	69	147	0.4694	5	c.132 others(22): Show c.132+6306_132+6310dupAAAAC	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77620882	T T	TTTTTC TTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG03486.hp1 NA21309.hp2 HG01255.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0005 a0001c0002t0006	a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0006g0104 a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0006g0104	3	188	0.0160	5	c.-43 others(16): Show c.-4304_-4303insGAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding		4246		chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13020355	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(136): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02738.hp2 HG02895.hp2 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0014 a0002c0002 a0002c0006 a0002c0018 a0003c0007 a0004c0008 a0007c0017 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0033 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0003t0005 a0001c0003t0006 a0001c0003t0011 a0001c0003t0032 a0001c0003t0041 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0016 a0001c0004t0017 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0009 a0001c0005t0016 a0001c0005t0018 a0001c0005t0020 a0001c0005t0025 a0001c0005t0047 a0001c0012t0023 a0001c0014t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0016 a0002c0002t0021 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0052 a0002c0006t0005 a0002c0006t0006 a0002c0018t0002 a0003c0007t0006 a0004c0008t0005 a0004c0008t0006 a0007c0017t0013 a0008c0015t0002	a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0097 others(136): Show a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0005g0092 a0001c0001t0005g0128 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0009g0111 a0001c0001t0009g0148 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0116 a0001c0001t0014g0121 a0001c0001t0014g0146 a0001c0001t0016g0136 a0001c0001t0018g0090 a0001c0001t0018g0104 a0001c0001t0019g0053 a0001c0001t0019g0120 a0001c0001t0020g0138 a0001c0001t0021g0061 a0001c0001t0022g0129 a0001c0001t0022g0130 a0001c0001t0033g0045 a0001c0001t0039g0122 a0001c0001t0050g0101 a0001c0001t0051g0075 a0001c0003t0005g0109 a0001c0003t0005g0118 a0001c0003t0005g0125 a0001c0003t0005g0132 a0001c0003t0006g0039 a0001c0003t0006g0048 a0001c0003t0011g0082 a0001c0003t0032g0022 a0001c0003t0041g0107 a0001c0004t0003g0094 a0001c0004t0009g0139 a0001c0004t0014g0137 a0001c0004t0016g0091 a0001c0004t0017g0105 a0001c0005t0001g0080 a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0005g0069 a0001c0005t0005g0081 a0001c0005t0009g0079 a0001c0005t0016g0147 a0001c0005t0018g0084 a0001c0005t0020g0078 a0001c0005t0025g0088 a0001c0005t0025g0096 a0001c0005t0047g0068 a0001c0012t0023g0165 a0001c0014t0005g0083 a0002c0002t0001g0095 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0036 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0063 a0002c0002t0007g0246 a0002c0002t0008g0004 a0002c0002t0008g0006 a0002c0002t0008g0012 a0002c0002t0008g0016 a0002c0002t0008g0017 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0016g0114 a0002c0002t0021g0065 a0002c0002t0031g0001 a0002c0002t0034g0027 a0002c0002t0035g0056 a0002c0002t0036g0062 a0002c0002t0052g0087 a0002c0006t0005g0086 a0002c0006t0006g0019 a0002c0006t0006g0023 a0002c0006t0006g0028 a0002c0006t0006g0034 a0002c0006t0006g0035 a0002c0006t0006g0037 a0002c0006t0006g0038 a0002c0006t0006g0040 a0002c0018t0002g0054 a0003c0007t0006g0002 a0003c0007t0006g0010 a0003c0007t0006g0020 a0003c0007t0006g0064 a0003c0007t0006g0066 a0004c0008t0005g0140 a0004c0008t0006g0031 a0007c0017t0013g0049 a0008c0015t0002g0050	139	288	0.4826	5	c.117 others(24): Show c.117+10976_117+10980dupGAAAA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13088784	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18946.hp2 NA18959.hp1 others(3): Show HG00673.hp2 NA18946.hp2 NA18959.hp1 NA18968.hp1 NA19000.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0010 a0001c0001t0001 a0001c0001t0008 a0001c0003t0010	a0001c0001t0001g0097 a0001c0001t0001g0134 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0097 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0203 a0001c0001t0008g0005 a0001c0003t0010g0289	6	8	0.7500	5	c.608 others(22): Show c.608-2285_608-2281dupTTTTT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34459484	G G	GAAAAT GAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(81): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0123 others(77): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0003g0013 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0009g0136 a0001c0001t0010g0051 a0001c0001t0010g0069 a0001c0001t0010g0078 a0001c0001t0013g0070 a0001c0001t0013g0081 a0001c0001t0018g0126 a0001c0001t0019g0127	84	342	0.2456	5	c.112 others(22): Show c.112+2611_112+2612insATTTT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161348251	G G	GCAAAA GCAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01169.hp1 others(25): Show HG00408.hp1 HG00597.hp1 HG01169.hp1 HG01243.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18959.hp2 NA18986.hp1 NA18993.hp1 NA18995.hp1 NA19003.hp2 NA19077.hp1 NA19087.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0138 a0001c0001t0001g0180 a0001c0001t0001g0190 others(22): Show a0001c0001t0001g0138 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0229 a0001c0001t0002g0036 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0128 a0001c0001t0010g0220 a0001c0001t0010g0222 a0001c0001t0020g0215	28	168	0.1667	5	c.-32 others(22): Show c.-32-1901_-32-1897dupTTTTG	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	2/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAA CAGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01257.hp2 others(14): Show HG00639.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp1 HG02055.hp2 HG02273.hp1 HG02615.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03209.hp2 HG03453.hp2 NA18955.hp2 NA18962.hp1 NA19080.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0001t0030 a0001c0002t0002	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 others(14): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0295 a0001c0001t0004g0297 a0001c0001t0025g0260 a0001c0001t0030g0366 a0001c0002t0002g0236	17	87	0.1954	5	c.61- others(20): Show c.61-4339_61-4335dupTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18635669	C C	CAAAAA CAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(171): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0004c0007 a0006c0008 a0009c0010 a0010c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0020 a0001c0001t0027 a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0022 a0001c0005t0007 a0001c0006t0001 a0001c0006t0008 a0004c0007t0001 a0006c0008t0001 a0009c0010t0002 a0010c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(137): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0006g0138 a0001c0001t0017g0205 a0001c0001t0020g0122 a0001c0001t0027g0116 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0145 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0005g0249 a0001c0002t0014g0156 a0001c0002t0015g0144 a0001c0002t0022g0162 a0001c0005t0007g0369 a0001c0006t0001g0191 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0203 a0001c0006t0008g0187 a0001c0006t0008g0188 a0004c0007t0001g0028 a0004c0007t0001g0190 a0006c0008t0001g0213 a0006c0008t0001g0214 a0009c0010t0002g0159 a0010c0012t0001g0126	174	380	0.4579	5	c.-14 others(16): Show c.-1413_-1412insTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding		1328		chr11	TogoVar
SPZ1_chr5_80315002_80326842	80317566	C C	CTTTTT CTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01993.hp1 HG02683.hp2 others(5): Show HG01255.hp1 HG01993.hp1 HG02683.hp2 HG02965.hp1 NA18967.hp2 NA18984.hp2 NA18985.hp1 NA19058.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0011	a0001c0001 a0006c0006 a0007c0015 others(2): Show a0001c0001 a0006c0006 a0007c0015 a0007c0016 a0011c0014	a0001c0001t0001 a0001c0001t0003 a0006c0006t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0006c0006t0002 a0007c0015t0002 a0007c0016t0002 a0011c0014t0002	a0001c0001t0001g0000 a0001c0001t0003g0000 a0006c0006t0002g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0006c0006t0002g0000 a0007c0015t0002g0000 a0007c0016t0002g0000 a0011c0014t0002g0000	8	73	0.1096	5	c.-26 others(16): Show c.-2650_-2649insTTTTT	SPZ1	ENSG00000164299.7	transcript	ENST00000296739.6	protein_coding		2435		chr5	TogoVar
SQLE_chr8_124993505_125027283	125003888	T T	TGGTGG TGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(11): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG02735.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0027 others(5): Show a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0027 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0198 a0001c0003t0001g0199	14	376	0.0372	5	c.544 others(20): Show c.544+478_544+482dupTGGGG	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG06807.hp2 NA18944.hp1 others(1): Show HG03669.hp2 HG06807.hp2 NA18944.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0210 a0001c0001t0001g0261 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0210 a0001c0001t0001g0261 a0001c0001t0001g0316	4	124	0.0323	5	c.235 others(20): Show c.235-666_235-665insAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAGAAA TAGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp2 HG02738.hp1 others(6): Show HG01099.hp2 HG01346.hp2 HG02738.hp1 NA18946.hp1 NA18952.hp1 NA18975.hp1 NA19068.hp2 NA19079.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0127 a0001c0001t0001g0175 a0001c0001t0001g0192 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0175 a0001c0001t0001g0192 a0002c0002t0001g0014 a0002c0002t0001g0066 a0002c0002t0001g0105 a0002c0002t0001g0189 a0002c0002t0001g0211 a0002c0002t0005g0033	9	129	0.0698	5	c.235 others(20): Show c.235-666_235-665insAGAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SQOR_chr15_45630029_45696281	45666856	T T	TCTCCC TCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01081.hp2 others(16): Show HG00099.hp2 HG00323.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG02257.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0043 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0004g0321 a0001c0003t0001g0059 a0001c0003t0001g0069 a0001c0003t0001g0080 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0220 a0001c0003t0001g0258 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0281	19	241	0.0788	5	c.406 others(22): Show c.406-3052_406-3048dupCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45690664	T T	TCCTGA TCCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(67): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18970.hp2 NA18975.hp2 NA18993.hp1 NA19000.hp2 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19081.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0009 a0010	a0001c0001 a0001c0003 a0001c0013 others(7): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0004 a0004c0006 a0005c0008 a0007c0011 a0009c0014 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0013t0001 a0002c0002t0001 a0002c0004t0001 a0004c0006t0004 a0005c0008t0001 a0007c0011t0004 a0009c0014t0001 a0010c0009t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(66): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0287 a0001c0001t0001g0316 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0074 a0001c0001t0007g0315 a0001c0003t0001g0059 a0001c0003t0001g0069 a0001c0003t0001g0073 a0001c0003t0001g0080 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0121 a0001c0003t0001g0174 a0001c0003t0001g0220 a0001c0003t0001g0233 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0281 a0001c0013t0001g0117 a0002c0002t0001g0106 a0002c0004t0001g0040 a0002c0004t0001g0248 a0002c0004t0001g0249 a0002c0004t0001g0250 a0002c0004t0001g0279 a0004c0006t0004g0319 a0004c0006t0004g0320 a0005c0008t0001g0229 a0005c0008t0001g0326 a0007c0011t0004g0322 a0009c0014t0001g0115 a0010c0009t0001g0050	70	338	0.2071	5	c.129 others(22): Show c.1296-306_1296-305insGACCT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45694121	A A	ATTAAC ATTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01070.hp2 others(26): Show HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01243.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03209.hp2 HG03579.hp1 HG03710.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA19006.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0062 others(26): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0003g0314 a0001c0001t0004g0321 a0002c0002t0001g0013 a0002c0002t0001g0155 a0002c0002t0001g0164 a0002c0002t0001g0327 a0002c0004t0001g0279	29	289	0.1003	5	c.30 others(16): Show c.3091_*3092insTTAAC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		2841		chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179818012	C C	CAAAAA CAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp2 others(4): Show HG01256.hp1 HG01256.hp2 HG01258.hp2 HG02273.hp1 HG02698.hp2 NA18942.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0245 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0245 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0012g0009	7	145	0.0483	5	c.-29 others(16): Show c.-2925_-2924insAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		2892		chr5	TogoVar

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