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
SH3BP2_chr4_2788085_2846096	2802634	G G	GGTGTGTG others(25): Show GGTGTGTGTATATATATATGTATATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	376	0.0027	32	c.-5+ others(47): Show c.-5+9521_-5+9552dupGTGTGTGTGTGTGTGTATATATATATGTAT AT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(25): Show TATATATTATATATAATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0188 a0002c0001t0002g0188	1	228	0.0044	32	c.119 others(49): Show c.119-2641_119-2640insTATATATAATATATATATTATATATAAT ATAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	22	0.0455	32	c.496 others(49): Show c.496-3255_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(25): Show CTAAAGACATTACAAAACAGAGTGCCCGTAGGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	180	0.0056	32	c.331 others(49): Show c.331-2651_331-2650insTCCTACGGGCACTCTGTTTTGTAATGTC TTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(25): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG02056.hp2 others(16): Show HG00280.hp2 HG00544.hp2 HG02056.hp2 HG02080.hp2 HG02165.hp1 HG02622.hp1 HG03471.hp1 HG03831.hp2 HG04115.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18951.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA19005.hp1 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0171 a0001c0001t0001g0241 a0001c0001t0001g0245 others(16): Show a0001c0001t0001g0171 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0284 a0001c0001t0001g0309 a0001c0001t0002g0010 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0024g0191 a0001c0002t0001g0215 a0001c0002t0001g0274 a0001c0002t0001g0288 a0001c0002t0001g0304 a0001c0002t0002g0051 a0001c0002t0003g0103 a0001c0008t0001g0190	19	198	0.0960	32	c.331 others(49): Show c.331-2682_331-2651dupTCCTACAGGCACTCTGTTTTGTAATGTC TTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272553	T T	TGTAGGAT others(25): Show TGTAGGATAAAGACATTACAAAACAGAGTGCCC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0263 a0008c0011t0001g0263	1	359	0.0028	32	c.331 others(49): Show c.331-2677_331-2676insGGGCACTCTGTTTTGTAATGTCTTTATC CTAC	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272632	T T	TATTACAA others(25): Show TATTACAAAACAGAGTGCCTGTAGGATAAAGAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp1 HG02738.hp1 others(3): Show HG01256.hp2 HG01496.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0175 a0001c0002t0001g0201 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0175 a0001c0002t0001g0201 a0001c0002t0001g0239 a0001c0002t0002g0087	6	360	0.0167	32	c.331 others(49): Show c.331-2787_331-2756dupGTCTTTATCCTACAGGCACTCTGTTTTG TAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	32	0.0313	32	c.769 others(49): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3D21_chr1_36301368_36326347	36325108	T T	TTCCAAAC others(25): Show TTCCAAACACCCTACCCAGCTTACAATCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	374	0.0027	32	c.39 others(43): Show c.3981_*3982insTCCAAACACCCTACCCAGCTTACAATCTCTCA	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding		3762		chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17738641	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	147	0.0068	32	c.46- others(47): Show c.46-8424_46-8423insTATATATATATATATATAGAGAGAGAGAGA GA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp2 others(44): Show HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01891.hp2 HG01928.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03579.hp2 HG03669.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19077.hp1 NA19087.hp2 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0007c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0007t0003 a0002c0003t0003 a0007c0008t0002	a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0077 others(36): Show a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0003g0018 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0008g0248 a0001c0001t0009g0041 a0001c0001t0014g0043 a0001c0001t0028g0276 a0001c0001t0029g0301 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0102 a0001c0002t0003g0274 a0001c0002t0017g0072 a0001c0007t0003g0275 a0002c0003t0003g0277 a0002c0003t0003g0279 a0002c0003t0003g0281 a0002c0003t0003g0284 a0002c0003t0003g0286 a0002c0003t0003g0287 a0007c0008t0002g0045	47	290	0.1621	32	c.63+ others(47): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG03239.hp2 HG02622.hp2 HG02647.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0004g0033 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0004g0033	3	51	0.0588	32	c.48 others(43): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0011 a0001c0003t0062g0011	1	75	0.0133	32	c.51 others(43): Show c.5152_*5153insAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01109.hp1 others(14): Show HG00408.hp1 HG00423.hp1 HG01109.hp1 HG01243.hp2 HG02055.hp1 HG02056.hp1 HG02258.hp1 HG02717.hp1 HG02896.hp2 HG03130.hp2 HG03516.hp2 NA18522.hp2 NA18945.hp2 NA19057.hp1 NA19062.hp1 NA19070.hp1 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0006 a0004c0011 a0009c0018	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 others(10): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0023 a0001c0002t0009 a0001c0003t0011 a0001c0003t0032 a0001c0003t0033 a0001c0009t0039 a0002c0006t0018 a0002c0006t0059 a0004c0011t0114 a0009c0018t0008	a0001c0001t0005g0221 a0001c0001t0005g0228 a0001c0001t0005g0232 others(14): Show a0001c0001t0005g0221 a0001c0001t0005g0228 a0001c0001t0005g0232 a0001c0001t0006g0241 a0001c0001t0006g0243 a0001c0001t0017g0030 a0001c0001t0023g0231 a0001c0002t0009g0227 a0001c0003t0011g0034 a0001c0003t0032g0003 a0001c0003t0033g0085 a0001c0009t0039g0112 a0002c0006t0018g0078 a0002c0006t0018g0080 a0002c0006t0059g0081 a0004c0011t0114g0106 a0009c0018t0008g0153	17	34	0.5000	32	c.73- others(45): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368468	T T	TTATATAT others(25): Show TTATATATATATATAAAATATATATATATTATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0188 a0001c0003t0017g0188	1	225	0.0044	32	c.427 others(49): Show c.427+5290_427+5321dupTATAATATATATATATTTTATATATATA TATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368496	T T	TTATATAT others(25): Show TTATATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	239	0.0042	32	c.427 others(49): Show c.427+5262_427+5293dupTAATATATATATATTTTATATATATATA TATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109249647	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp2 HG02451.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0029 a0001c0003t0036 a0001c0001t0029 a0001c0003t0036	a0001c0001t0029g0057 a0001c0003t0036g0056 a0001c0001t0029g0057 a0001c0003t0036g0056	2	168	0.0119	32	c.574 others(51): Show c.574-98007_574-98006insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03239.hp2 HG04184.hp2 HG01169.hp1 HG03239.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0001c0001t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0009g0143 a0002c0002t0001g0162 a0001c0001t0001g0025 a0001c0001t0009g0143 a0002c0002t0001g0162	3	52	0.0577	32	c.214 others(51): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp1 NA18522.hp2 others(1): Show HG01081.hp1 HG02735.hp1 NA18522.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0004 a0001c0003t0023 a0002c0001t0002 a0001c0003t0004 a0001c0003t0023 a0002c0001t0002	a0001c0003t0004g0099 a0001c0003t0023g0080 a0002c0001t0002g0213 others(1): Show a0001c0003t0004g0099 a0001c0003t0023g0080 a0002c0001t0002g0213 a0002c0001t0002g0276	4	270	0.0148	32	c.196 others(51): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AAAGAGAA others(25): Show AAAGAGAAAGAAAGAGAGAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0058 a0003c0006t0001g0058	1	275	0.0036	32	c.118 others(51): Show c.1182+4849_1182+4850insCCTTCCTTCCTTTCTCTCTCTTTCTT TCTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18962.hp1 NA18991.hp2 others(1): Show HG03209.hp2 NA18962.hp1 NA18991.hp2 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0092 a0004c0004t0001g0131 a0004c0004t0001g0140 others(1): Show a0001c0001t0001g0092 a0004c0004t0001g0131 a0004c0004t0001g0140 a0004c0004t0001g0163	4	69	0.0580	32	c.118 others(51): Show c.1182+4680_1182+4711dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGGAAG others(25): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01981.hp1 NA18956.hp2 HG01168.hp2 HG01981.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0286 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0286	3	68	0.0441	32	c.118 others(51): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	12970406	T T	TATATATA others(25): Show TATATATATACATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp2 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0092 a0001c0001t0001 a0001c0001t0092	a0001c0001t0001g0092 a0001c0001t0092g0144 a0001c0001t0001g0092 a0001c0001t0092g0144	2	212	0.0094	32	c.691 others(51): Show c.691+53600_691+53601insCATATATGTATATATATATATACATA TATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970408	T T	TATATATA others(25): Show TATATATACATATATGTATATATATATGCACAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	161	0.0062	32	c.691 others(51): Show c.691+53600_691+53601insCATATATGTATATATATATGCACACA TATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015853	C C	CCTTTCTT others(25): Show CCTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0151 a0001c0001t0084g0151	1	65	0.0154	32	c.691 others(51): Show c.691+99046_691+99047insGTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071557	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0075 a0001c0001t0066g0075	1	193	0.0052	32	c.692 others(53): Show c.692-131824_692-131823insTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071575	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0118 a0001c0001t0055g0118	1	214	0.0047	32	c.692 others(53): Show c.692-131816_692-131815insTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0008	1	162	0.0062	32	c.80 others(43): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp2 HG02027.hp2 others(2): Show HG00609.hp2 HG01175.hp2 HG02027.hp2 HG02074.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0030 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0030 a0001c0002t0037 a0001c0002t0047	a0001c0001t0002g0077 a0001c0002t0001g0315 a0001c0002t0030g0337 others(2): Show a0001c0001t0002g0077 a0001c0002t0001g0315 a0001c0002t0030g0337 a0001c0002t0037g0013 a0001c0002t0047g0048	5	109	0.0459	32	c.600 others(51): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02083.hp2 HG02145.hp2 others(3): Show HG00639.hp1 HG02083.hp2 HG02145.hp2 HG06807.hp1 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0094 a0001c0002t0006 others(3): Show a0001c0001t0015 a0001c0001t0094 a0001c0002t0006 a0001c0002t0013 a0001c0002t0040 a0001c0002t0049	a0001c0001t0015g0313 a0001c0001t0094g0329 a0001c0002t0006g0075 others(3): Show a0001c0001t0015g0313 a0001c0001t0094g0329 a0001c0002t0006g0075 a0001c0002t0013g0055 a0001c0002t0040g0034 a0001c0002t0049g0133	6	38	0.1579	32	c.599 others(47): Show c.599+530_599+531insAAGGAAGGAAGGAAGGCAGGCAGGCAGGCA GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02300.hp1 HG02647.hp2 others(5): Show HG02071.hp1 HG02300.hp1 HG02647.hp2 HG03688.hp1 NA19003.hp2 NA19030.hp2 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0026 a0001c0002t0037 a0001c0002t0060	a0001c0002t0001g0115 a0001c0002t0001g0142 a0001c0002t0001g0233 others(5): Show a0001c0002t0001g0115 a0001c0002t0001g0142 a0001c0002t0001g0233 a0001c0002t0002g0290 a0001c0002t0007g0024 a0001c0002t0026g0137 a0001c0002t0037g0013 a0001c0002t0060g0258	8	40	0.2000	32	c.599 others(47): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGCAGGCAGGCA GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp1 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0071 a0001c0005t0033 a0001c0002t0071 a0001c0005t0033	a0001c0002t0071g0125 a0001c0005t0033g0304 a0001c0002t0071g0125 a0001c0005t0033g0304	2	34	0.0588	32	c.599 others(47): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGAAGGCAGGCA GG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5852415	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTACCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02615.hp1 others(1): Show HG01243.hp2 HG02486.hp1 HG02615.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0257 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0257 a0001c0002t0005g0015	4	297	0.0135	32	c.179 others(51): Show c.179-10598_179-10597insACCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC1_chr9_111681171_111799937	111729195	A A	AACCTCCA others(25): Show AACCTCCAACTCCTGGGCCCAAGCAGTCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00642.hp2 others(38): Show HG00140.hp1 HG00408.hp2 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp2 HG03834.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0003 a0008 a0015 others(1): Show a0003 a0008 a0015 a0017	a0003c0003 a0008c0009 a0015c0029 others(1): Show a0003c0003 a0008c0009 a0015c0029 a0017c0016	a0003c0003t0002 a0008c0009t0001 a0015c0029t0002 others(1): Show a0003c0003t0002 a0008c0009t0001 a0015c0029t0002 a0017c0016t0002	a0003c0003t0002g0011 a0003c0003t0002g0020 a0003c0003t0002g0077 others(37): Show a0003c0003t0002g0011 a0003c0003t0002g0020 a0003c0003t0002g0077 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0108 a0003c0003t0002g0111 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0008c0009t0001g0084 a0008c0009t0001g0100 a0008c0009t0001g0101 a0008c0009t0001g0102 a0008c0009t0001g0103 a0008c0009t0001g0104 a0008c0009t0001g0107 a0008c0009t0001g0109 a0008c0009t0001g0110 a0008c0009t0001g0171 a0015c0029t0002g0089 a0017c0016t0002g0081	41	294	0.1395	32	c.141 others(51): Show c.1418-1178_1418-1147dupGGGAGGACTGCTTGGGCCCAGGAGTT GGAGGT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	12/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATAAAT others(25): Show AAATAAATAAATAAATAAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0104 a0008c0009t0001g0104	1	260	0.0038	32	c.170 others(47): Show c.170-734_170-733insAATTAATTAATTAATTTATTTATTTATTTA TT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOX2_chr3_158090905_158111420	158096909	T T	TATATATA others(25): Show TATATATATATATATATATATGGCAAATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0058 a0001c0001t0033g0058	1	373	0.0027	32	c.11 others(43): Show c.1117_*1118insCATATATTTGCCATATATATATATATATATAT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1117		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158096924	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	377	0.0027	32	c.11 others(43): Show c.1102_*1103insGATATATATATATATATATATATATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1102		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0044 a0003c0006t0003g0044	1	61	0.0164	32	c.-57 others(41): Show c.-579_-548dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHOX_chrX_625791_656584	648889	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG02109.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0129 a0001c0001t0066 a0001c0001t0129	a0001c0001t0066g0122 a0001c0001t0129g0082 a0001c0001t0066g0122 a0001c0001t0129g0082	2	96	0.0208	32	c.42 others(43): Show c.4274_*4275insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	4275	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPK_chr17_3603240_3641250	3635193	T T	TGAAGGAA others(25): Show TGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	290	0.0034	32	c.168 others(47): Show c.168+858_168+859insCTTCCTTCCTTCCTTCCTTTCTTCCTTCCT TC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(25): Show AATAAATAAATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG02273.hp1 others(1): Show HG01928.hp1 HG01978.hp1 HG02273.hp1 HG02293.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0004 a0003c0002 a0004c0004	a0003c0002t0001 a0004c0004t0001 a0003c0002t0001 a0004c0004t0001	a0003c0002t0001g0010 a0003c0002t0001g0020 a0003c0002t0001g0130 others(1): Show a0003c0002t0001g0010 a0003c0002t0001g0020 a0003c0002t0001g0130 a0004c0004t0001g0154	4	34	0.1176	32	c.324 others(51): Show c.324-63928_324-63927insAATAAATAAATATATATATATATATA TATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(25): Show AATAAATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0188 a0001c0001t0019g0188	1	31	0.0323	32	c.324 others(51): Show c.324-63928_324-63927insAATAAATATATATATATATATATATA TATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(25): Show AATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp1 NA18974.hp1 HG03139.hp2 HG03471.hp1 NA18974.hp1	a0015 a0021 a0028 a0015 a0021 a0028	a0015c0046 a0021c0034 a0028c0030 a0015c0046 a0021c0034 a0028c0030	a0015c0046t0006 a0021c0034t0001 a0028c0030t0001 a0015c0046t0006 a0021c0034t0001 a0028c0030t0001	a0015c0046t0006g0157 a0021c0034t0001g0103 a0028c0030t0001g0040 a0015c0046t0006g0157 a0021c0034t0001g0103 a0028c0030t0001g0040	3	33	0.0909	32	c.324 others(51): Show c.324-63928_324-63927insAATATATATATATATATATATATATA TATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01257.hp2 others(12): Show HG00621.hp2 HG00642.hp1 HG01257.hp2 HG02083.hp1 HG02293.hp1 HG02523.hp2 HG02630.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 NA18989.hp1 NA19079.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0013 a0016	a0001c0001 a0003c0002 a0004c0004 others(4): Show a0001c0001 a0003c0002 a0004c0004 a0005c0013 a0007c0006 a0013c0012 a0016c0031	a0001c0001t0002 a0001c0001t0033 a0003c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0033 a0003c0002t0001 a0004c0004t0001 a0005c0013t0001 a0007c0006t0005 a0013c0012t0006 a0016c0031t0001	a0001c0001t0002g0159 a0001c0001t0033g0079 a0003c0002t0001g0020 others(12): Show a0001c0001t0002g0159 a0001c0001t0033g0079 a0003c0002t0001g0020 a0003c0002t0001g0063 a0003c0002t0001g0064 a0003c0002t0001g0086 a0003c0002t0001g0118 a0003c0002t0001g0139 a0003c0002t0001g0180 a0004c0004t0001g0101 a0004c0004t0001g0135 a0005c0013t0001g0109 a0007c0006t0005g0047 a0013c0012t0006g0083 a0016c0031t0001g0081	15	43	0.3488	32	c.324 others(51): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTATGTATGT GTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0006 a0013c0012t0006	a0013c0012t0006g0046 a0013c0012t0006g0046	1	29	0.0345	32	c.324 others(51): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTATGT GTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04204.hp1 NA19056.hp1 others(1): Show HG04199.hp1 HG04204.hp1 NA19056.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 a0001c0001t0001 a0001c0001t0003 a0006c0007t0001	a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0003g0134 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0003g0134 a0006c0007t0001g0070	4	44	0.0909	32	c.295 others(51): Show c.2957+9336_2957+9337insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	116893576	G G	GCACACAC others(25): Show GCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03471.hp1 HG01516.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0036 a0001c0001t0033g0064 a0001c0001t0001g0036 a0001c0001t0033g0064	2	3	0.6667	32	c.167 others(51): Show c.1674-7011_1674-7010insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116893576	G G	GCACGCAC others(25): Show GCACGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02145.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0028 a0001c0001t0006 a0001c0001t0028	a0001c0001t0006g0034 a0001c0001t0028g0023 a0001c0001t0006g0034 a0001c0001t0028g0023	2	3	0.6667	32	c.167 others(51): Show c.1674-7011_1674-7010insTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGTG	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SIAH3_chr13_45772242_45856753	45826393	A A	ATGGTTGG others(25): Show ATGGTTGGATGGATGGATGGGTGAGTGGCTGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01243.hp2 others(17): Show HG00639.hp2 HG01070.hp2 HG01243.hp2 HG01361.hp2 HG01884.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(12): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0078 a0001c0001t0094 a0001c0001t0116	a0001c0001t0003g0028 a0001c0001t0008g0106 a0001c0001t0009g0029 others(17): Show a0001c0001t0003g0028 a0001c0001t0008g0106 a0001c0001t0009g0029 a0001c0001t0016g0027 a0001c0001t0016g0151 a0001c0001t0016g0224 a0001c0001t0018g0190 a0001c0001t0020g0046 a0001c0001t0020g0095 a0001c0001t0021g0044 a0001c0001t0021g0111 a0001c0001t0023g0102 a0001c0001t0024g0191 a0001c0001t0029g0045 a0001c0001t0030g0047 a0001c0001t0035g0112 a0001c0001t0035g0113 a0001c0001t0078g0105 a0001c0001t0094g0101 a0001c0001t0116g0357	20	362	0.0552	32	c.135 others(51): Show c.135+25101_135+25102insCCCAGCCACTCACCCATCCATCCATC CAACCA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIAH3_chr13_45772242_45856753	45826397	A A	ATGGTTGG others(25): Show ATGGTTGGATGGATGGATGGGTGAGTGGCTGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp2 NA18969.hp1 others(4): Show HG01952.hp1 HG02004.hp2 NA18969.hp1 NA18977.hp2 NA19001.hp1 NA19012.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0012g0036	7	362	0.0193	32	c.135 others(51): Show c.135+25097_135+25098insCCCAGCCACTCACCCATCCATCCATC CAACCA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar

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