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
STRIT1_chr3_155285227_155298683	155298036	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	16	c.-44 others(27): Show c.-4405_-4404insCTTTCTTTCTTTCTTT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4354		chr3	TogoVar
STRIT1_chr3_155285227_155298683	155298078	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02129.hp2 NA18947.hp1 others(6): Show HG00558.hp1 HG02129.hp2 NA18947.hp1 NA18965.hp1 NA18969.hp1 NA18998.hp1 NA19007.hp1 NA19074.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0003 a0001c0001t0011g0014 a0001c0001t0003g0003 a0001c0001t0011g0014	9	444	0.0203	16	c.-44 others(27): Show c.-4447_-4446insCTCTTTCTTTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4396		chr3	TogoVar
STRN3_chr14_30888804_31031379	30895053	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18999.hp1 NA18522.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0218 a0001c0001t0019g0229 a0001c0001t0019g0218 a0001c0001t0019g0229	2	364	0.0055	16	c.34 others(25): Show c.342_*357dupTTTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	18/18	357		chr14	TogoVar
STRN3_chr14_30888804_31031379	30921069	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp1 NA18972.hp1 others(6): Show HG03710.hp1 HG04228.hp1 NA18972.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA19056.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0047	a0001c0001t0001g0356 a0001c0001t0003g0319 a0001c0001t0003g0326 others(6): Show a0001c0001t0001g0356 a0001c0001t0003g0319 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0340 a0001c0001t0003g0349 a0001c0001t0003g0351 a0001c0001t0005g0327 a0001c0001t0047g0363	9	364	0.0247	16	c.110 others(35): Show c.1100-1964_1100-1963insGTGTGTGTGTGTGTGT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	8/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30924287	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18971.hp2 HG03579.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0233 a0001c0001t0015g0283 a0001c0001t0007g0233 a0001c0001t0015g0283	2	364	0.0055	16	c.109 others(35): Show c.1099+4898_1099+4913dupAAAAAAAAAAAAAAAA	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	8/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929954	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 NA18967.hp1 HG01496.hp1 HG02647.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0002c0002t0001 a0002c0002t0012 a0001c0001t0036 a0002c0002t0001 a0002c0002t0012	a0001c0001t0036g0227 a0002c0002t0001g0165 a0002c0002t0012g0118 a0001c0001t0036g0227 a0002c0002t0001g0165 a0002c0002t0012g0118	3	364	0.0082	16	c.989 others(31): Show c.989-659_989-644dupTTTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929967	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(68): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0014 others(2): Show a0001c0001 a0002c0002 a0002c0014 a0002c0018 a0008c0017	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(9): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0002c0002t0013 a0002c0002t0029 a0002c0014t0001 a0002c0018t0001 a0008c0017t0001	a0001c0001t0003g0092 a0002c0002t0001g0094 a0002c0002t0001g0096 others(68): Show a0001c0001t0003g0092 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0002g0121 a0002c0002t0003g0175 a0002c0002t0004g0063 a0002c0002t0004g0098 a0002c0002t0004g0128 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0149 a0002c0002t0004g0162 a0002c0002t0004g0178 a0002c0002t0004g0187 a0002c0002t0004g0191 a0002c0002t0007g0122 a0002c0002t0007g0193 a0002c0002t0011g0172 a0002c0002t0013g0134 a0002c0002t0013g0151 a0002c0002t0029g0127 a0002c0014t0001g0062 a0002c0018t0001g0141 a0008c0017t0001g0091	71	364	0.1951	16	c.989 others(31): Show c.989-657_989-656insGTTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929967	A A	AAAAAAAA others(9): Show AAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0145 a0002c0002t0004g0145	1	364	0.0028	16	c.989 others(31): Show c.989-657_989-656insGTTTTTGTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929967	A A	AAAAACAA others(9): Show AAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03239.hp1 NA18963.hp2 others(4): Show HG02074.hp1 HG03239.hp1 NA18963.hp2 NA18977.hp1 NA18981.hp1 NA18987.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0142 others(4): Show a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0142 a0002c0002t0001g0153 a0002c0002t0001g0164 a0002c0002t0004g0114 a0002c0002t0004g0147	7	364	0.0192	16	c.989 others(31): Show c.989-657_989-656insGTTTTTTTTTTGTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929967	A A	AACAAAAA others(9): Show AACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	364	0.0028	16	c.989 others(31): Show c.989-657_989-656insGTTTTTTTTTTTTTGT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929979	A A	AAAACAAA others(9): Show AAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	364	0.0028	16	c.989 others(31): Show c.989-669_989-668insGTTTTTTTTTTTGTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30981576	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02280.hp2 HG03669.hp2 others(2): Show HG02135.hp2 HG02280.hp2 HG03669.hp2 NA18987.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0002t0001 a0002c0002t0004 a0002c0005t0001	a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0001g0159 others(2): Show a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0001g0159 a0002c0002t0004g0114 a0002c0005t0001g0299	5	364	0.0137	16	c.283 others(35): Show c.283-25350_283-25335dupTGTGTGTGTGTGTGTG	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN_chr2_36832698_36971536	36846387	T T	TTATATAT others(9): Show TTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0190 a0001c0001t0190	a0001c0001t0190g0062 a0001c0001t0190g0062	1	302	0.0033	16	c.30 others(27): Show c.3053_*3068dupTATATATATATATATA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18	3068		chr2	TogoVar
STRN_chr2_36832698_36971536	36906463	C C	CAATGAAT others(9): Show CAATGAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01496.hp2 others(5): Show HG00280.hp1 HG00735.hp2 HG01496.hp2 HG02004.hp2 HG02602.hp2 HG03239.hp1 NA19006.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0122 a0001c0001t0132 others(4): Show a0001c0001t0032 a0001c0001t0122 a0001c0001t0132 a0001c0001t0134 a0001c0001t0166 a0001c0001t0168 a0001c0001t0186	a0001c0001t0032g0066 a0001c0001t0032g0070 a0001c0001t0122g0043 others(5): Show a0001c0001t0032g0066 a0001c0001t0032g0070 a0001c0001t0122g0043 a0001c0001t0132g0257 a0001c0001t0134g0040 a0001c0001t0166g0116 a0001c0001t0168g0074 a0001c0001t0186g0034	8	302	0.0265	16	c.413 others(31): Show c.413-861_413-846dupCATTCATTCATTCATT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	3/17			chr2	TogoVar
STRN_chr2_36832698_36971536	36915232	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18955.hp2 NA18968.hp1 HG00408.hp1 NA18955.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0175 a0001c0001t0001 a0001c0001t0003 a0001c0001t0175	a0001c0001t0001g0003 a0001c0001t0003g0112 a0001c0001t0175g0080 a0001c0001t0001g0003 a0001c0001t0003g0112 a0001c0001t0175g0080	3	302	0.0099	16	c.412 others(31): Show c.412+830_412+845dupATATATATATATATAT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	3/17			chr2	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20300.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0148 a0001c0001t0029 a0001c0001t0148	a0001c0001t0029g0158 a0001c0001t0148g0247 a0001c0001t0029g0158 a0001c0001t0148g0247	2	302	0.0066	16	c.-43 others(25): Show c.-436_-435insGTGTGTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STS_chrX_7142712_7359641	7258267	G G	GGATAGAT others(9): Show GGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	231	0.0043	16	c.382 others(31): Show c.382+695_382+710dupAGATAGATAGATAGAT	STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
STS_chrX_7142712_7359641	7272217	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19065.hp2 HG00642.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0012 a0001c0001t0001g0031	2	231	0.0087	16	c.807 others(33): Show c.807-3731_807-3716dupATATATATATATATAT	STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
STX12_chr1_27768219_27829443	27792245	T T	TATATATA others(9): Show TATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02257.hp1 others(4): Show HG01243.hp1 HG02109.hp1 HG02257.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0002t0003 a0001c0001t0003 a0001c0001t0010 a0001c0002t0003	a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 others(4): Show a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0010g0033 a0001c0002t0003g0115	7	228	0.0307	16	c.189 others(33): Show c.189-1277_189-1276insTATACATATATATGTA	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX12_chr1_27768219_27829443	27799477	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG02559.hp2 HG01255.hp1 HG01884.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0053 a0001c0001t0004g0025 a0001c0001t0004g0044 a0001c0001t0003g0053 a0001c0001t0004g0025 a0001c0001t0004g0044	3	228	0.0132	16	c.289 others(33): Show c.289-2190_289-2189insTTTTTTTTTTTTTTTT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX17_chr9_99901654_99979534	99904413	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp1 others(41): Show HG00408.hp1 HG00408.hp2 HG00733.hp1 HG00735.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02897.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18966.hp2 NA18969.hp2 NA18977.hp2 NA18982.hp2 NA18991.hp1 NA18995.hp2 NA19000.hp2 NA19007.hp1 NA19067.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0002c0002t0003 a0003c0003t0002	a0001c0001t0001g0041 a0001c0001t0001g0106 a0001c0001t0002g0001 others(38): Show a0001c0001t0001g0041 a0001c0001t0001g0106 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0080 a0001c0001t0003g0095 a0001c0001t0004g0159 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0001t0008g0083 a0001c0001t0014g0089 a0001c0001t0014g0117 a0001c0001t0015g0004 a0001c0001t0015g0038 a0001c0001t0027g0024 a0002c0002t0003g0004 a0003c0003t0002g0009	44	294	0.1497	16	c.-23 others(27): Show c.-2356_-2355insTTTTTTTTTTTTTTTT	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding		2240		chr9	TogoVar
STX18_chr4_4413968_4547048	4511713	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	246	0.0041	16	c.168 others(35): Show c.168+30068_168+30083dupACACACACACACACAC	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX18_chr4_4413968_4547048	4527867	C C	CACACATA others(9): Show CACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	246	0.0041	16	c.168 others(35): Show c.168+13929_168+13930insATATATATATATGTGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX1A_chr7_73694210_73724669	73715453	A A	ACCTCCAA others(9): Show ACCTCCAACCAGGAAGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	400	0.0025	16	c.30+ others(31): Show c.30+4133_30+4148dupCCTTCCTGGTTGGAGG	STX1A	ENSG00000106089.12	transcript	ENST00000222812.8	protein_coding	1/9			chr7	TogoVar
STX2_chr12_130784600_130844250	130818183	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0314 a0002c0002t0002g0314	1	380	0.0026	16	c.205 others(33): Show c.205+3505_205+3506insATATATATATATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19030.hp2 HG02735.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0298 a0002c0002t0002g0295 a0002c0002t0002g0298	2	380	0.0053	16	c.205 others(33): Show c.205+3503_205+3504insATATATATATTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0313 a0002c0002t0002g0313	1	380	0.0026	16	c.205 others(33): Show c.205+3503_205+3504insATATATATATATATTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0342 a0002c0002t0002g0342	1	380	0.0026	16	c.205 others(33): Show c.205+3488_205+3503dupATATATATATATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130843004	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18972.hp2 NA19012.hp1 HG02602.hp2 NA18972.hp2 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0289 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0289	3	380	0.0079	16	c.-39 others(27): Show c.-3906_-3905insCTTCCTTCCTTCCTTC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3755		chr12	TogoVar
STX5_chr11_62801860_62837051	62829427	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18973.hp1 HG03516.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	380	0.0053	16	c.225 others(33): Show c.225+1576_225+1591dupATTTATTTATTTATTT	STX5	ENSG00000162236.13	transcript	ENST00000294179.8	protein_coding	2/10			chr11	TogoVar
STX8_chr17_9245471_9580820	9253207	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp2 HG02965.hp1 HG00738.hp2 HG02109.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002	a0001c0001t0002g0172 a0001c0002t0002g0025 a0001c0004t0002g0111 a0001c0001t0002g0172 a0001c0002t0002g0025 a0001c0004t0002g0111	3	188	0.0160	16	c.644 others(33): Show c.644-2578_644-2563dupACACACACACACACAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9384794	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01175.hp2 others(26): Show HG00323.hp2 HG00741.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01891.hp1 HG01981.hp2 HG02074.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03710.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp1 NA18948.hp2 NA18957.hp1 NA18966.hp2 NA18986.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0002c0009t0001	a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0109 others(26): Show a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0133 a0001c0001t0002g0147 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0002t0002g0022 a0001c0002t0002g0038 a0001c0002t0002g0063 a0001c0003t0001g0017 a0001c0003t0001g0042 a0001c0003t0001g0050 a0001c0003t0001g0067 a0001c0003t0002g0068 a0001c0004t0001g0082 a0001c0004t0001g0091 a0001c0004t0001g0143 a0001c0004t0002g0117 a0001c0007t0001g0157 a0002c0009t0001g0028	29	188	0.1543	16	c.542 others(33): Show c.542-6157_542-6142dupCACACACACACACACA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG03490.hp2 others(2): Show HG01074.hp2 HG01167.hp2 HG03490.hp2 HG03704.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0142 a0001c0001t0002g0136 a0001c0002t0001g0070 others(2): Show a0001c0001t0001g0142 a0001c0001t0002g0136 a0001c0002t0001g0070 a0001c0003t0001g0006 a0001c0004t0001g0160	5	188	0.0266	16	c.448 others(29): Show c.448+49_448+64dupTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9506412	C C	CCGCCCCC others(9): Show CCGCCCCCGCGCCCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG02630.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0007 a0001c0004t0001g0095 a0001c0002t0001g0007 a0001c0004t0001g0095	2	188	0.0106	16	c.324 others(33): Show c.324-1251_324-1250insTGGGGGCGCGGGGGCG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9541258	T T	TGGGCACG others(9): Show TGGGCACGGAGGGAAGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	188	0.0053	16	c.323 others(33): Show c.323+3898_323+3913dupGCTTCCCTCCGTGCCC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp1 HG03579.hp1 HG02970.hp2 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0067 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0003t0001g0067 a0001c0005t0001g0185 a0001c0005t0001g0186	3	188	0.0160	16	c.213 others(33): Show c.213-1309_213-1308insAAAACAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18959.hp2 NA18982.hp1 others(2): Show HG03195.hp2 NA18959.hp2 NA18982.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0009 a0001c0003 a0001c0004 a0002c0009	a0001c0003t0002 a0001c0004t0001 a0002c0009t0001 a0001c0003t0002 a0001c0004t0001 a0002c0009t0001	a0001c0003t0002g0030 a0001c0004t0001g0078 a0001c0004t0001g0080 others(2): Show a0001c0003t0002g0030 a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0089 a0002c0009t0001g0028	5	188	0.0266	16	c.213 others(33): Show c.213-1309_213-1308insAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559735	T T	TTTATATA others(9): Show TTTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	188	0.0053	16	c.118 others(33): Show c.118-2208_118-2207insGTATATATATATATAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02735.hp2 HG01069.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0087 a0001c0006t0001g0090 a0001c0001t0002g0087 a0001c0006t0001g0090	2	188	0.0106	16	c.118 others(33): Show c.118-2233_118-2232insAAAATATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp1 others(7): Show HG01069.hp1 HG01175.hp2 HG01192.hp1 HG01517.hp1 HG01891.hp2 HG02738.hp1 HG03942.hp2 HG04228.hp1 NA18959.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0075 a0001c0001t0001g0140 others(7): Show a0001c0001t0001g0015 a0001c0001t0001g0075 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0004t0001g0155 a0001c0008t0001g0183	10	188	0.0532	16	c.118 others(33): Show c.118-2233_118-2232insAAAAAATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03490.hp2 NA19007.hp1 others(1): Show HG01175.hp1 HG03490.hp2 NA19007.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0142 a0001c0004t0001g0089	4	188	0.0213	16	c.118 others(33): Show c.118-2233_118-2232insAAAAAAAATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18966.hp1 HG04184.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0135 a0001c0001t0002g0100 a0001c0001t0002g0135	2	188	0.0106	16	c.118 others(33): Show c.118-2233_118-2232insAAAAAAAAAATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0284 a0001c0001t0017g0284	1	290	0.0035	16	c.287 others(35): Show c.287+29602_287+29617dupTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121105395	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	290	0.0035	16	c.471 others(33): Show c.471-9518_471-9503dupTAAATAAATAAATAAA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121194443	G G	GAGGATTG others(9): Show GAGGATTGCTTGAGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(217): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0005 a0001c0006 others(8): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0010 a0006c0012 a0007c0007 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0001c0008t0005 a0002c0002t0020 a0003c0003t0001 a0003c0003t0005 a0003c0003t0013 a0003c0003t0028 a0004c0004t0005 a0005c0010t0006 a0006c0012t0003 a0007c0007t0005 a0009c0011t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(217): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0195 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0283 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0010g0064 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 a0001c0001t0011g0024 a0001c0001t0012g0126 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0016g0019 a0001c0001t0016g0020 a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0021g0209 a0001c0001t0022g0035 a0001c0001t0024g0052 a0001c0001t0025g0231 a0001c0001t0026g0265 a0001c0001t0027g0276 a0001c0001t0029g0170 a0001c0001t0030g0254 a0001c0001t0031g0286 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0129 a0001c0006t0003g0183 a0001c0008t0005g0268 a0002c0002t0020g0158 a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0005g0199 a0003c0003t0013g0155 a0003c0003t0013g0166 a0003c0003t0013g0167 a0003c0003t0028g0203 a0004c0004t0005g0270 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275 a0005c0010t0006g0236 a0006c0012t0003g0150 a0007c0007t0005g0269 a0009c0011t0001g0214	220	290	0.7586	16	c.878 others(35): Show c.878-11475_878-11460dupTTGCTTGAGCCCAGGA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121297202	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	290	0.0035	16	c.211 others(37): Show c.2110+17269_2110+17284dupTGTGTGTGTGTGTGTG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01978.hp1 HG01981.hp1 others(5): Show HG01106.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp1 HG02809.hp2 NA18957.hp1 NA18982.hp2 NA19004.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0005 a0001c0001t0001 a0007c0007t0005	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0062 a0007c0007t0005g0269	8	290	0.0276	16	c.211 others(35): Show c.2111-6012_2111-5997dupTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGCGCG others(9): Show TGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0019 a0002c0002t0014g0019	1	350	0.0029	16	c.248 others(33): Show c.248+7410_248+7411insTGCGCGCGCGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGCG others(9): Show TGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19043.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0014 a0001c0001t0012 a0002c0002t0014	a0001c0001t0012g0034 a0002c0002t0014g0020 a0001c0001t0012g0034 a0002c0002t0014g0020	2	350	0.0057	16	c.248 others(33): Show c.248+7410_248+7411insTGTGCGCGCGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0176 a0001c0001t0026g0176	1	350	0.0029	16	c.248 others(33): Show c.248+7410_248+7411insTGTGTGTGTGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar

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