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
STOML3_chr13_38960925_38995831	38988414	T T	TTTTATAT others(6): Show TTTTATATCATATA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	394	0.0025	13	c.52+ others(28): Show c.52+2243_52+2255dupTATATGATATAAA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STON1_chr2_48525154_48603513	48530149	C C	CCCCTCCT others(6): Show CCCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	340	0.0029	13	c.-11 others(22): Show c.-115_-114insCCCTCCTCCTCCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding		4		chr2	TogoVar
STOX2_chr4_183900307_184028526	183946637	T T	TGTTTGTT others(6): Show TGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02280.hp1 HG02280.hp2 others(20): Show HG01975.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 others(15): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0022 a0001c0001t0054 a0001c0001t0064 a0001c0001t0065 a0001c0001t0078 a0001c0001t0101 a0001c0002t0014 a0001c0002t0017 a0001c0002t0023 a0001c0002t0040 a0001c0002t0061 a0001c0002t0067 a0001c0004t0099 a0001c0005t0005 a0002c0003t0011	a0001c0001t0004g0004 a0001c0001t0004g0190 a0001c0001t0008g0230 others(20): Show a0001c0001t0004g0004 a0001c0001t0004g0190 a0001c0001t0008g0230 a0001c0001t0008g0239 a0001c0001t0016g0095 a0001c0001t0022g0100 a0001c0001t0022g0101 a0001c0001t0054g0196 a0001c0001t0064g0191 a0001c0001t0065g0302 a0001c0001t0078g0167 a0001c0001t0101g0147 a0001c0002t0014g0251 a0001c0002t0014g0252 a0001c0002t0017g0110 a0001c0002t0017g0189 a0001c0002t0023g0168 a0001c0002t0040g0050 a0001c0002t0061g0305 a0001c0002t0067g0192 a0001c0004t0099g0228 a0001c0005t0005g0229 a0002c0003t0011g0306	23	316	0.0728	13	c.166 others(32): Show c.166+39681_166+39682insGTTTGTTTGTTTG	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3			chr4	TogoVar
STOX2_chr4_183900307_184028526	183953575	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(79): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02040.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG04115.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18965.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0002c0003 a0005c0009 a0006c0011 a0007c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(44): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0043 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055 a0001c0001t0076 a0001c0001t0079 a0001c0001t0085 a0001c0001t0108 a0001c0001t0109 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 a0001c0002t0023 a0001c0002t0027 a0001c0002t0044 a0001c0002t0060 a0001c0002t0062 a0001c0002t0068 a0001c0002t0080 a0001c0002t0086 a0001c0004t0036 a0001c0004t0046 a0001c0004t0063 a0001c0004t0099 a0001c0005t0005 a0001c0005t0089 a0001c0005t0090 a0001c0007t0002 a0002c0003t0038 a0002c0003t0070 a0005c0009t0009 a0006c0011t0100 a0007c0012t0097	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 others(79): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0226 a0001c0001t0001g0255 a0001c0001t0001g0269 a0001c0001t0001g0290 a0001c0001t0004g0093 a0001c0001t0004g0262 a0001c0001t0008g0152 a0001c0001t0008g0230 a0001c0001t0010g0003 a0001c0001t0010g0075 a0001c0001t0015g0138 a0001c0001t0015g0218 a0001c0001t0016g0313 a0001c0001t0020g0048 a0001c0001t0021g0172 a0001c0001t0028g0123 a0001c0001t0028g0227 a0001c0001t0030g0145 a0001c0001t0034g0258 a0001c0001t0035g0317 a0001c0001t0043g0071 a0001c0001t0049g0207 a0001c0001t0050g0273 a0001c0001t0055g0276 a0001c0001t0076g0041 a0001c0001t0079g0307 a0001c0001t0085g0246 a0001c0001t0108g0291 a0001c0001t0109g0019 a0001c0002t0001g0175 a0001c0002t0002g0012 a0001c0002t0002g0026 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0176 a0001c0002t0002g0182 a0001c0002t0003g0097 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0132 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0188 a0001c0002t0003g0212 a0001c0002t0003g0272 a0001c0002t0007g0111 a0001c0002t0014g0238 a0001c0002t0023g0104 a0001c0002t0023g0168 a0001c0002t0027g0055 a0001c0002t0027g0067 a0001c0002t0044g0074 a0001c0002t0060g0169 a0001c0002t0062g0261 a0001c0002t0068g0268 a0001c0002t0080g0224 a0001c0002t0086g0151 a0001c0004t0036g0314 a0001c0004t0046g0301 a0001c0004t0063g0249 a0001c0004t0099g0228 a0001c0005t0005g0181 a0001c0005t0005g0229 a0001c0005t0089g0233 a0001c0005t0090g0037 a0001c0007t0002g0046 a0001c0007t0002g0081 a0001c0007t0002g0253 a0002c0003t0038g0193 a0002c0003t0070g0170 a0005c0009t0009g0221 a0006c0011t0100g0232 a0007c0012t0097g0173	82	273	0.3004	13	c.166 others(32): Show c.166+46627_166+46628insTTTTTTTTTTTTT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STOX2_chr4_183900307_184028526	183968380	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0050 a0001c0002t0040g0050	1	309	0.0032	13	c.167 others(32): Show c.167-32945_167-32944insCACACACACACAC	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3			chr4	TogoVar
STOX2_chr4_183900307_184028526	183970182	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0098 a0001c0004t0098	a0001c0004t0098g0180 a0001c0004t0098g0180	1	302	0.0033	13	c.167 others(32): Show c.167-31143_167-31142insTGTGTGTGTGTGT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3			chr4	TogoVar
STPG2_chr4_97553872_98148476	97616057	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	157	0.0064	13	c.132 others(34): Show c.1321-56941_1321-56940insATATATATATATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	97850326	A A	ATAAATAA others(6): Show ATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01099.hp2 others(3): Show HG00099.hp1 HG00140.hp2 HG01099.hp2 HG02040.hp1 HG02280.hp2 HG02735.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0002 a0003c0004t0001 a0002c0003t0002 a0003c0004t0001	a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 others(3): Show a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0077 a0002c0003t0002g0079 a0003c0004t0001g0106	6	239	0.0251	13	c.104 others(32): Show c.1045-9395_1045-9394insATTTATTTATTTA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	8/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	97942190	C C	CCTTCCTA others(6): Show CCTTCCTATGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(109): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG02040.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18956.hp1 NA18959.hp1 NA18966.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18989.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0002 a0001c0013 a0002c0003 others(4): Show a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0004c0005 a0005c0008 a0011c0014	a0001c0002t0001 a0001c0013t0001 a0002c0003t0002 others(4): Show a0001c0002t0001 a0001c0013t0001 a0002c0003t0002 a0003c0004t0001 a0004c0005t0002 a0005c0008t0002 a0011c0014t0002	a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0139 others(109): Show a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0159 a0001c0002t0001g0181 a0001c0013t0001g0253 a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0004c0005t0002g0005 a0004c0005t0002g0012 a0004c0005t0002g0019 a0004c0005t0002g0033 a0004c0005t0002g0034 a0004c0005t0002g0035 a0004c0005t0002g0045 a0004c0005t0002g0046 a0004c0005t0002g0047 a0004c0005t0002g0048 a0004c0005t0002g0049 a0004c0005t0002g0050 a0004c0005t0002g0060 a0004c0005t0002g0064 a0004c0005t0002g0065 a0004c0005t0002g0067 a0004c0005t0002g0072 a0004c0005t0002g0082 a0004c0005t0002g0087 a0005c0008t0002g0006 a0005c0008t0002g0015 a0011c0014t0002g0088	112	264	0.4242	13	c.104 others(32): Show c.1044+1694_1044+1706dupCATCCATAGGAAG	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	8/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	98072570	T T	TTAAAATA others(6): Show TTAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02965.hp2 HG01928.hp1 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0002 a0003c0004t0001 a0002c0003t0002 a0003c0004t0001	a0002c0003t0002g0062 a0003c0004t0001g0101 a0002c0003t0002g0062 a0003c0004t0001g0101	2	57	0.0351	13	c.612 others(32): Show c.612+33382_612+33383insTTATTTTATTTTA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STPG4_chr2_47081991_47160308	47091046	C C	CCACGGGG others(6): Show CCACGGGGTGAGGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	350	0.0029	13	c.520 others(28): Show c.520-685_520-673dupCCCTCACCCCGTG	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
STPG4_chr2_47081991_47160308	47133570	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0024 a0003c0003t0001g0024	1	55	0.0182	13	c.400 others(30): Show c.400-3323_400-3311dupAAAAAAAAAAAAA	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	3/6			chr2	TogoVar
STRA6_chr15_74174466_74207787	74204940	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02630.hp2 HG01496.hp1 HG02630.hp2	a0006 a0006	a0006c0012 a0006c0020 a0006c0012 a0006c0020	a0006c0012t0002 a0006c0020t0002 a0006c0012t0002 a0006c0020t0002	a0006c0012t0002g0162 a0006c0020t0002g0160 a0006c0012t0002g0162 a0006c0020t0002g0160	2	255	0.0078	13	c.-22 others(24): Show c.-2244_-2243insCTTTCTTTCTTTC	STRA6	ENSG00000137868.19	transcript	ENST00000395105.9	protein_coding		2154		chr15	TogoVar
STRADA_chr17_63697832_63746799	63737248	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03669.hp1 HG03942.hp1 others(7): Show HG02165.hp2 HG03669.hp1 HG03942.hp1 NA18612.hp1 NA18944.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA19065.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 others(7): Show a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0266 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0002t0002g0265 a0001c0002t0002g0279	10	11	0.9091	13	c.-45 others(30): Show c.-45+4480_-45+4492dupTTTTTTTTTTTTT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0171 a0001c0002t0015g0171	1	19	0.0526	13	c.-16 others(34): Show c.-164-16449_-164-16437dupAAAAAAAAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STRBP_chr9_123116617_123273586	123200762	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	231	0.0043	13	c.-16 others(34): Show c.-164-16465_-164-16464insTAAAAAAAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STRIT1_chr3_155285227_155298683	155298036	A A	AAAAAAAA others(6): Show AAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA19083.hp1 HG02559.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	2	197	0.0102	13	c.-44 others(24): Show c.-4405_-4404insCTTTCTTTTTTTT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4354		chr3	TogoVar
STRN3_chr14_30888804_31031379	30895053	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG03491.hp1 HG00738.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0041 a0001c0001t0032 a0001c0001t0041	a0001c0001t0032g0300 a0001c0001t0041g0223 a0001c0001t0032g0300 a0001c0001t0041g0223	2	54	0.0370	13	c.34 others(22): Show c.345_*357dupTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	18/18	357		chr14	TogoVar
STRN3_chr14_30888804_31031379	30896831	G G	GGTAAGAG others(6): Show GGTAAGAGATTGCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0038 a0003c0003t0002g0038	1	362	0.0028	13	c.213 others(32): Show c.2138-1084_2138-1083insTGCAATCTCTTAC	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	16/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30924287	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01243.hp1 others(10): Show HG00140.hp2 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(7): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0001t0039 a0001c0004t0007	a0001c0001t0004g0226 a0001c0001t0004g0264 a0001c0001t0004g0288 others(10): Show a0001c0001t0004g0226 a0001c0001t0004g0264 a0001c0001t0004g0288 a0001c0001t0006g0232 a0001c0001t0006g0236 a0001c0001t0012g0302 a0001c0001t0016g0219 a0001c0001t0018g0003 a0001c0001t0027g0265 a0001c0001t0032g0300 a0001c0001t0035g0218 a0001c0001t0039g0217 a0001c0004t0007g0069	13	18	0.7222	13	c.109 others(32): Show c.1099+4901_1099+4913dupAAAAAAAAAAAAA	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	8/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929954	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp1 HG03453.hp2 others(2): Show HG02897.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0269 others(2): Show a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0037g0214	5	185	0.0270	13	c.989 others(28): Show c.989-656_989-644dupTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929954	C C	CAAAAAAA others(6): Show CAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0014 a0004c0006t0014	a0004c0006t0014g0210 a0004c0006t0014g0210	1	181	0.0055	13	c.989 others(28): Show c.989-644_989-643insTGTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN4_chr19_46714511_46751450	46724249	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp1 HG02738.hp2 others(4): Show HG00673.hp1 HG02129.hp1 HG02738.hp2 NA18940.hp1 NA18960.hp2 NA18979.hp2 NA19089.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0006c0012t0003 a0001c0001t0001 a0001c0001t0003 a0006c0012t0003	a0001c0001t0001g0027 a0001c0001t0001g0079 a0001c0001t0001g0082 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0003g0181 a0006c0012t0003g0229	7	76	0.0921	13	c.159 others(30): Show c.1594+545_1594+557dupTTTTTTTTTTTTT	STRN4	ENSG00000090372.15	transcript	ENST00000263280.11	protein_coding	12/17			chr19	TogoVar
STRN_chr2_36832698_36971536	36941716	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01346.hp1 others(7): Show HG01070.hp1 HG01071.hp2 HG01346.hp1 HG02559.hp2 HG02895.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0075 a0001c0001t0006 a0001c0001t0019 a0001c0001t0075	a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 others(7): Show a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0019g0206 a0001c0001t0075g0208	10	270	0.0370	13	c.235 others(32): Show c.235-16521_235-16509dupAAAAAAAAAAAAA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STX11_chr6_144145517_144196939	144155940	A A	ATCTATCC others(6): Show ATCTATCCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG01109.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0223 a0001c0001t0027g0224 a0001c0001t0001g0223 a0001c0001t0027g0224	2	153	0.0131	13	c.-6+ others(28): Show c.-6+5240_-6+5241insATCCTTTCTTTCT	STX11	ENSG00000135604.11	transcript	ENST00000367568.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
STX17_chr9_99901654_99979534	99904413	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01243.hp1 HG01346.hp2 HG01975.hp1 HG02080.hp2 HG02698.hp1 HG03927.hp1 NA19007.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 a0001c0001t0004 a0001c0001t0005 a0001c0001t0028	a0001c0001t0004g0005 a0001c0001t0004g0027 a0001c0001t0004g0150 others(7): Show a0001c0001t0004g0005 a0001c0001t0004g0027 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0004g0159 a0001c0001t0005g0013 a0001c0001t0005g0141 a0001c0001t0005g0145 a0001c0001t0028g0154	11	29	0.3793	13	c.-23 others(24): Show c.-2356_-2355insTTTTTTTTTTTTT	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding		2240		chr9	TogoVar
STX19_chr3_94009365_94033597	94029334	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	379	0.0026	13	c.-98 others(22): Show c.-982_-981insATATATATATATA	STX19	ENSG00000178750.3	transcript	ENST00000315099.3	protein_coding		738		chr3	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0293 a0002c0002t0002g0293	1	213	0.0047	13	c.205 others(30): Show c.205+3503_205+3504insATATATATTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	213	0.0047	13	c.205 others(30): Show c.205+3503_205+3504insATATATATATATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130842968	G G	GAAGGAGA others(6): Show GAAGGAGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	378	0.0026	13	c.-38 others(24): Show c.-3870_-3869insTTCCTTTCTCCTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3719		chr12	TogoVar
STX3_chr11_59750376_59810878	59772974	A A	AAACACAC others(6): Show AAACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18991.hp2 NA19067.hp2 HG01934.hp1 NA18991.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0171	3	73	0.0411	13	c.31- others(26): Show c.31-236_31-235insACACACACACACA	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX3_chr11_59750376_59810878	59781100	T T	TTTTTTTT others(6): Show TTTTTTTTTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02486.hp2 others(11): Show HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02735.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA18960.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0165 others(10): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0005g0024 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0010g0169 a0001c0001t0015g0136	14	180	0.0778	13	c.115 others(30): Show c.115-5936_115-5935insTTTTTTTATATAT	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX3_chr11_59750376_59810878	59781100	T T	TTTTTTTT others(6): Show TTTTTTTTTTTATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01106.hp2 others(6): Show HG00639.hp2 HG00733.hp2 HG01106.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0158 others(3): Show a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0016g0160	9	175	0.0514	13	c.115 others(30): Show c.115-5936_115-5935insTTTTTTTTTATAT	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX5_chr11_62801860_62837051	62819220	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	33	0.0303	13	c.908 others(30): Show c.908+4933_908+4945dupTTTTTTTTTTTTT	STX5	ENSG00000162236.13	transcript	ENST00000294179.8	protein_coding	10/10			chr11	TogoVar
STX6_chr1_180967725_181027870	181023041	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	339	0.0029	13	c.-36 others(22): Show c.-369_-368insGAGAGAGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		172		chr1	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02080.hp1 HG02572.hp1 others(2): Show HG01975.hp1 HG02080.hp1 HG02572.hp1 HG03490.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0004g0044 a0001c0002t0002g0210	5	262	0.0191	13	c.-37 others(22): Show c.-378_-377insAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX8_chr17_9245471_9580820	9288675	A A	AAAATAAA others(6): Show AAAATAAAATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	177	0.0056	13	c.644 others(32): Show c.644-38031_644-38030insATTTATTTTATTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9339070	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02647.hp2 NA18906.hp2 HG01175.hp1 HG02647.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0096 a0001c0002t0002g0003 a0001c0003t0001g0042 a0001c0001t0001g0096 a0001c0002t0002g0003 a0001c0003t0001g0042	3	132	0.0227	13	c.643 others(32): Show c.643+39469_643+39481dupTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9345848	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp1 NA18986.hp2 others(2): Show HG00741.hp1 HG02738.hp1 NA18986.hp2 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0150 a0001c0001t0002g0165 a0001c0004t0002g0088	5	7	0.7143	13	c.643 others(32): Show c.643+32691_643+32703dupAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03710.hp1 NA18948.hp2 others(5): Show HG02735.hp1 HG03710.hp1 NA18948.hp2 NA18965.hp2 NA18982.hp1 NA19004.hp2 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0004t0001g0076 others(5): Show a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0004t0001g0076 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0002g0079 a0001c0004t0002g0088 a0001c0007t0001g0157	8	16	0.5000	13	c.448 others(26): Show c.448+52_448+64dupTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9506422	C C	CCCCCCCC others(6): Show CCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	177	0.0056	13	c.324 others(30): Show c.324-1261_324-1260insCGGGGGGGGGGGG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9527185	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03942.hp1 others(3): Show HG02615.hp2 HG03130.hp1 HG03942.hp1 HG04199.hp1 NA18982.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002	a0001c0002t0002g0002 a0001c0002t0002g0021 a0001c0003t0001g0001 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0021 a0001c0003t0001g0001 a0001c0003t0001g0023 a0001c0004t0001g0081 a0001c0004t0002g0079	6	7	0.8571	13	c.323 others(32): Show c.323+17974_323+17986dupTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03239.hp2 HG02683.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0147 a0001c0001t0002g0074 a0001c0001t0002g0147	2	3	0.6667	13	c.323 others(30): Show c.323+9735_323+9747dupAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	116	0.0086	13	c.213 others(30): Show c.213-1309_213-1308insAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9547246	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	5	0.2000	13	c.213 others(30): Show c.213-1977_213-1965dupTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9547642	A A	AAAAAAAA others(6): Show AAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	88	0.0114	13	c.213 others(30): Show c.213-2361_213-2360insCTTTTCTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp2 HG02976.hp2 others(4): Show HG00741.hp2 HG02109.hp2 HG02976.hp2 HG03239.hp2 HG03471.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0002g0074 a0001c0004t0001g0125 a0001c0004t0001g0131 a0001c0004t0002g0111	7	13	0.5385	13	c.118 others(30): Show c.118-2233_118-2232insAAAAATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	7	0.1429	13	c.118 others(30): Show c.118-2233_118-2232insAAAAAAATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP1_chr9_127607277_127697699	127612242	G G	GCTCGCGC others(6): Show GCTCGCGCCGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG06807.hp1 HG01884.hp1 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0010 a0001c0003t0005g0287 a0001c0003t0005g0010 a0001c0003t0005g0287	3	298	0.0101	13	c.-16 others(22): Show c.-162_-161insCTCGCGCCGCGCC	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding		34		chr9	TogoVar
STXBP2_chr19_7632110_7652873	7650203	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01928.hp1 HG01943.hp2 others(8): Show HG01069.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 NA18969.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0001 a0009c0015t0001 a0001c0001t0001 a0009c0015t0001	a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0101 a0009c0015t0001g0125	11	207	0.0531	13	c.23 others(24): Show c.2393_*2394insAAAAAAAAAAAAA	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding		2331		chr19	TogoVar

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