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
SYNPR_chr3_63273308_63621924	63408134	G G	GAAGAAAG others(10): Show GAAGAAAGAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG02280.hp1 others(9): Show HG00558.hp2 HG01884.hp2 HG02280.hp1 HG02615.hp2 HG02922.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 NA18951.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0044 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0002g0108 a0001c0001t0002g0209 a0001c0001t0003g0033 a0001c0001t0003g0174 a0001c0001t0004g0246 a0001c0001t0015g0224 a0001c0003t0001g0029 a0001c0003t0001g0082	12	246	0.0488	17	c.85- others(34): Show c.85-72687_85-72671dupAGAAAGAAAGAAAGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408194	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18966.hp1 HG00423.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0196 a0001c0001t0002g0080 a0001c0001t0002g0196	2	163	0.0123	17	c.85- others(34): Show c.85-72637_85-72636insAAGAAAGAAAGAAAGAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408275	A A	AAGAAAGA others(10): Show AAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	240	0.0042	17	c.85- others(34): Show c.85-72554_85-72553insAAGAAAGAAAGAAGAGA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408324	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	242	0.0041	17	c.85- others(34): Show c.85-72505_85-72489dupAGAAAGAAAGAAAGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63476279	G G	GGGAAGGA others(10): Show GGGAAGGAAGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0022 a0001c0001t0004g0222 a0001c0001t0001g0022 a0001c0001t0004g0222	2	235	0.0085	17	c.85- others(32): Show c.85-4541_85-4540insGGGACGGAAGGAAGGGA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63476319	A A	AGGAAGGC others(10): Show AGGAAGGCAGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG02165.hp2 others(6): Show HG00597.hp1 HG00621.hp2 HG02165.hp2 HG03239.hp1 HG03834.hp1 HG04115.hp1 NA18999.hp1 NA19077.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0003	a0001c0001t0001g0070 a0001c0001t0001g0187 a0001c0001t0001g0197 others(6): Show a0001c0001t0001g0070 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0191 a0001c0001t0009g0238 a0002c0002t0003g0139	9	199	0.0452	17	c.85- others(32): Show c.85-4512_85-4511insGAAGGCAGGAGGGAAGG	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63540930	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp1 NA18906.hp1 HG02723.hp2 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0002g0023 a0001c0001t0004g0230 a0001c0001t0001g0110 a0001c0001t0002g0023 a0001c0001t0004g0230	3	147	0.0204	17	c.210 others(36): Show c.210-15613_210-15612insCACACACACACACACAC	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	3/5			chr3	TogoVar
SYNPR_chr3_63273308_63621924	63606417	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01175.hp2 others(4): Show HG00642.hp1 HG01070.hp2 HG01175.hp2 HG02055.hp1 HG02922.hp2 NA18977.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0002c0002t0003	a0001c0001t0003g0014 a0001c0001t0007g0125 a0001c0001t0007g0131 others(4): Show a0001c0001t0003g0014 a0001c0001t0007g0125 a0001c0001t0007g0131 a0001c0001t0007g0157 a0001c0001t0009g0232 a0001c0001t0012g0242 a0002c0002t0003g0138	7	91	0.0769	17	c.409 others(34): Show c.409-2702_409-2686dupTTTTTTTTTTTTTTTTT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63613610	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0172 a0001c0001t0005g0172	1	62	0.0161	17	c.601 others(34): Show c.601-1601_601-1585dupAAAAAAAAAAAAAAAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNRG_chr17_37509807_37614418	37511585	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0203 a0002c0002t0005g0203	1	41	0.0244	17	c.73 others(28): Show c.7338_*7354dupAAAAAAAAAAAAAAAAA	SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding		3221		chr17	TogoVar
SYNRG_chr17_37509807_37614418	37511937	A A	AGTTTTTT others(10): Show AGTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00741.hp2 others(11): Show HG00099.hp2 HG00544.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01358.hp1 HG02004.hp1 HG02273.hp1 HG02886.hp1 HG03486.hp1 HG04228.hp1 NA18944.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0003c0010	a0001c0001t0002 a0001c0005t0009 a0002c0002t0002 others(3): Show a0001c0001t0002 a0001c0005t0009 a0002c0002t0002 a0002c0002t0016 a0003c0004t0002 a0003c0010t0002	a0001c0001t0002g0080 a0001c0005t0009g0005 a0002c0002t0002g0199 others(11): Show a0001c0001t0002g0080 a0001c0005t0009g0005 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0218 a0002c0002t0002g0221 a0002c0002t0002g0227 a0002c0002t0002g0254 a0002c0002t0016g0193 a0003c0004t0002g0122 a0003c0004t0002g0125 a0003c0004t0002g0126 a0003c0004t0002g0293 a0003c0010t0002g0284	14	263	0.0532	17	c.70 others(28): Show c.7002_*7003insAAAAAAAAAAAAAAAAC	SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding		2869		chr17	TogoVar
SYT14_chr1_209933217_210176315	210052665	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02300.hp1 HG03130.hp1 others(8): Show HG02148.hp2 HG02300.hp1 HG03130.hp1 HG03471.hp2 HG03516.hp2 HG04204.hp2 NA18959.hp2 NA18973.hp2 NA19063.hp1 NA19068.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0013 a0001c0001t0020 a0001c0001t0029 others(4): Show a0001c0001t0013 a0001c0001t0020 a0001c0001t0029 a0002c0002t0008 a0002c0002t0018 a0002c0003t0002 a0002c0003t0015	a0001c0001t0013g0342 a0001c0001t0020g0235 a0001c0001t0029g0229 others(8): Show a0001c0001t0013g0342 a0001c0001t0020g0235 a0001c0001t0029g0229 a0001c0001t0029g0237 a0002c0002t0008g0328 a0002c0002t0008g0334 a0002c0002t0018g0300 a0002c0002t0018g0303 a0002c0003t0002g0321 a0002c0003t0002g0331 a0002c0003t0015g0346	11	123	0.0894	17	c.442 others(36): Show c.442+31414_442+31430dupAAAAAAAAAAAAAAAAA	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT16_chr14_61807703_62117550	61834428	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02897.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0003g0039 a0001c0001t0003g0048 a0001c0001t0001g0038 a0001c0001t0003g0039 a0001c0001t0003g0048	3	106	0.0283	17	c.-32 others(38): Show c.-325+21626_-325+21642dupTTTTTTTTTTTTTTTTT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT16_chr14_61807703_62117550	62054360	G G	GTTGTTTT others(10): Show GTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02004.hp1 HG02071.hp2 HG01258.hp2 HG02004.hp1 HG02071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0015 a0002c0003t0026 a0002c0003t0006 a0002c0003t0015 a0002c0003t0026	a0002c0003t0006g0127 a0002c0003t0015g0043 a0002c0003t0026g0121 a0002c0003t0006g0127 a0002c0003t0015g0043 a0002c0003t0026g0121	3	74	0.0405	17	c.524 others(36): Show c.524-15241_524-15240insGTTTTTTTTTTTTTTTT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT16_chr14_61807703_62117550	62059692	G G	GTAATTTA others(10): Show GTAATTTATATATATGTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0040 a0003c0004t0040	a0003c0004t0040g0036 a0003c0004t0040g0036	1	172	0.0058	17	c.524 others(34): Show c.524-9909_524-9908insATTTATATATATGTATA	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT16_chr14_61807703_62117550	62116605	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0005 a0001c0002t0042g0005	1	14	0.0714	17	c.15 others(30): Show c.15898_*15899insTTTTTTTTTTTTTTTTT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding		4056		chr14	TogoVar
SYT17_chr16_19163240_19273332	19220303	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	45	0.0222	17	c.952 others(34): Show c.952-2739_952-2738insCTTTCTTTTTTTTTTTT	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT17_chr16_19163240_19273332	19268945	G G	GTAACTGC others(10): Show GTAACTGCTCCATGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	322	0.0031	17	c.18 others(28): Show c.1869_*1870insTAACTGCTCCATGGGCT	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding		614		chr16	TogoVar
SYT1_chr12_78859774_79457008	78929409	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	31	0.0323	17	c.-21 others(38): Show c.-216-48369_-216-48353dupAAAAAAAAAAAAAAAAA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79300824	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	58	0.0172	17	c.810 others(34): Show c.810+1273_810+1274insATATATATATATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	8/10			chr12	TogoVar
SYT1_chr12_78859774_79457008	79308551	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	55	0.0182	17	c.810 others(34): Show c.810+9000_810+9001insGAAAGAAAGAAAGAAAG	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	8/10			chr12	TogoVar
SYT2_chr1_202585596_202715454	202691722	G G	GGGAGAGA others(10): Show GGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0137 a0001c0003t0005g0137	1	174	0.0057	17	c.-18 others(36): Show c.-18+18535_-18+18536insTCTCTCTCTCTCTCTCC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT5_chr19_55166196_55185289	55167634	A A	AAAAAAAA others(10): Show AAAAAAAAAAGAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01070.hp1 others(50): Show HG00323.hp1 HG00544.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG02055.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0011 a0002c0003 a0004c0005 a0006c0013	a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 others(16): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0001c0002t0029 a0001c0002t0038 a0001c0002t0039 a0001c0002t0051 a0001c0006t0004 a0001c0010t0048 a0001c0011t0029 a0002c0003t0027 a0004c0005t0024 a0006c0013t0018	a0001c0001t0004g0007 a0001c0001t0004g0025 a0001c0001t0004g0027 others(28): Show a0001c0001t0004g0007 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0038 a0001c0001t0004g0049 a0001c0001t0004g0102 a0001c0001t0008g0013 a0001c0001t0008g0029 a0001c0001t0008g0060 a0001c0001t0008g0062 a0001c0001t0018g0059 a0001c0001t0018g0141 a0001c0001t0022g0113 a0001c0001t0022g0114 a0001c0001t0022g0115 a0001c0001t0025g0033 a0001c0001t0031g0041 a0001c0001t0032g0063 a0001c0001t0033g0069 a0001c0001t0040g0076 a0001c0002t0029g0129 a0001c0002t0038g0074 a0001c0002t0039g0061 a0001c0002t0051g0130 a0001c0006t0004g0039 a0001c0010t0048g0135 a0001c0011t0029g0128 a0002c0003t0027g0119 a0002c0003t0027g0120 a0004c0005t0024g0032 a0006c0013t0018g0140	53	285	0.1860	17	c.58 others(28): Show c.5849_*5850insCTTTTTTCTTTTTTTTT	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		3561		chr19	TogoVar
SYT6_chr1_114084292_114158869	114145502	G G	GTTGTTTG others(10): Show GTTGTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG03453.hp2 HG02280.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0038 a0001c0001t0015 a0001c0001t0038	a0001c0001t0015g0004 a0001c0001t0038g0049 a0001c0001t0015g0004 a0001c0001t0038g0049	3	321	0.0093	17	c.164 others(34): Show c.164-5540_164-5539insAAAAAAAAAACAAACAA	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114145502	G G	GTTGTTTT others(10): Show GTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	319	0.0031	17	c.164 others(34): Show c.164-5540_164-5539insAAAAAAAAAAAAAACAA	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT9_chr11_7246904_7474043	7251133	C C	CACACACA others(10): Show CACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	270	0.0037	17	c.-10 others(28): Show c.-1054_-1053insACACACACACACACACA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding		770		chr11	TogoVar
SYT9_chr11_7246904_7474043	7280777	A A	ACTATAGA others(10): Show ACTATAGATGTAAGTAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp2 HG01891.hp2 others(5): Show HG00733.hp2 HG01884.hp2 HG01891.hp2 HG02258.hp2 HG02886.hp1 HG03130.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0003g0039 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0178 a0001c0001t0005g0041 a0001c0001t0006g0177 a0001c0001t0014g0179	8	270	0.0296	17	c.146 others(36): Show c.146-22262_146-22261insCTATAGATGTAAGTAAG	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	1/6			chr11	TogoVar
SYT9_chr11_7246904_7474043	7348688	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	32	0.0313	17	c.104 others(38): Show c.1044+34760_1044+34776dupTTTTTTTTTTTTTTTTT	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7349382	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp2 NA19056.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0029 a0001c0003t0001g0193 a0001c0001t0005g0029 a0001c0003t0001g0193	2	64	0.0313	17	c.104 others(38): Show c.1044+35441_1044+35442insCACACACACACACACAC	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	3/6			chr11	TogoVar
SYTL3_chr6_158645054_158769871	158693844	C C	CTTTTACT others(10): Show CTTTTACTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	277	0.0036	17	c.394 others(36): Show c.394+10859_394+10860insACTTTTTTTTTTTTTTT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158693855	C C	CTTTTCTT others(10): Show CTTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	109	0.0092	17	c.394 others(36): Show c.394+10870_394+10871insCTTTTCTTTCTTTTTTT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158693855	C C	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG00735.hp2 others(35): Show HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01433.hp1 HG01891.hp1 HG01928.hp2 HG02056.hp1 HG02056.hp2 HG02148.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19056.hp1 NA19062.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0013 a0002c0002 others(4): Show a0001c0001 a0001c0013 a0002c0002 a0003c0004 a0003c0006 a0004c0003 a0007c0008	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0003c0004t0001 a0003c0006t0001 a0004c0003t0001 a0007c0008t0001	a0001c0001t0001g0097 a0001c0001t0001g0207 a0001c0001t0001g0210 others(35): Show a0001c0001t0001g0097 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0013t0001g0250 a0002c0002t0001g0065 a0002c0002t0001g0080 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0255 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0267 a0002c0002t0001g0274 a0002c0002t0001g0289 a0003c0004t0001g0049 a0003c0004t0001g0132 a0003c0006t0001g0268 a0004c0003t0001g0263 a0007c0008t0001g0269	38	146	0.2603	17	c.394 others(36): Show c.394+10870_394+10871insCTTTTCTTTTCTTTTTT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158693858	T T	TTCTTTTC others(10): Show TTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	289	0.0035	17	c.394 others(36): Show c.394+10870_394+10871insCTTTTCTTTTCTTTTCT	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158765187	G G	GGGCGGGG others(10): Show GGGCGGGGGGCGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00738.hp1 others(7): Show HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01109.hp2 HG01884.hp2 HG02056.hp2 HG02258.hp2 HG03834.hp2 HG03927.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0031 a0001c0001t0001g0140 a0001c0001t0001g0148 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0251 a0001c0001t0001g0266 a0005c0007t0001g0098 a0005c0007t0001g0099 a0005c0007t0001g0189	10	283	0.0353	17	c.58 others(26): Show c.583_*584insGGCGGGGGGCGGGGGGC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding		317		chr6	TogoVar
SYTL5_chrX_38001553_38133816	38083809	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	247	0.0040	17	c.690 others(34): Show c.690-5637_690-5636insGTGTGTGTGTGTGTGTG	SYTL5	ENSG00000147041.12	transcript	ENST00000297875.7	protein_coding	6/16			chrX	TogoVar
TAAR1_chr6_132638312_132664182	132647623	G G	GAAGAAGA others(10): Show GAAGAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	111	0.0090	17	c.-12 others(36): Show c.-126-1495_-126-1494insTTTCTTTCTTTCTTCTT	TAAR1	ENSG00000146399.3	transcript	ENST00000275216.3	protein_coding	1/1			chr6	TogoVar
TAAR9_chr6_132533277_132544336	132543601	A A	ACACACAC others(10): Show ACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03942.hp2 HG04115.hp1 others(1): Show HG02055.hp2 HG03942.hp2 HG04115.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	50	0.0800	17	c.42 others(28): Show c.4265_*4266insCACACACACACACACAC	TAAR9	ENSG00000237110.3	transcript	ENST00000434551.3	protein_coding		4266		chr6	TogoVar
TAB2_chr6_149312712_149416607	149357430	A A	AAAAAAAC others(10): Show AAAAAAACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01071.hp1 others(9): Show HG00099.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG02300.hp2 HG02683.hp1 HG02922.hp1 HG03704.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0008 a0001c0001t0003g0172 a0001c0001t0003g0175 others(9): Show a0001c0001t0003g0008 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0308 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0342 a0001c0001t0005g0119 a0001c0001t0005g0182	12	122	0.0984	17	c.-89 others(36): Show c.-89-12478_-89-12477insAAAAACACACACACACA	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB2_chr6_149312712_149416607	149357430	A A	AAAAACAC others(10): Show AAAAACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02129.hp1 HG03492.hp1 others(3): Show HG01255.hp2 HG02129.hp1 HG03492.hp1 HG03927.hp1 NA18999.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0006 a0001c0001t0003g0169 a0001c0001t0003g0171 others(3): Show a0001c0001t0003g0006 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0310 a0001c0001t0003g0347 a0001c0001t0005g0252	6	116	0.0517	17	c.-89 others(36): Show c.-89-12478_-89-12477insAAACACACACACACACA	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB2_chr6_149312712_149416607	149357430	A A	AAACACAC others(10): Show AAACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	111	0.0090	17	c.-89 others(36): Show c.-89-12478_-89-12477insACACACACACACACACA	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB3_chrX_30822442_30894254	30868368	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG02735.hp1 HG01099.hp1 HG01981.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0091 a0001c0001t0004g0109 a0001c0001t0004g0130 a0001c0001t0002g0091 a0001c0001t0004g0109 a0001c0001t0004g0130	3	130	0.0231	17	c.-27 others(34): Show c.-279-820_-279-819insTATATATATATATATAT	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TACC2_chr10_121984163_122259542	122012418	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18971.hp2 NA18984.hp2 HG03704.hp2 NA18971.hp2 NA18984.hp2	a0002 a0075 a0083 a0002 a0075 a0083	a0002c0002 a0075c0121 a0083c0076 a0002c0002 a0075c0121 a0083c0076	a0002c0002t0003 a0075c0121t0003 a0083c0076t0001 a0002c0002t0003 a0075c0121t0003 a0083c0076t0001	a0002c0002t0003g0219 a0075c0121t0003g0210 a0083c0076t0001g0189 a0002c0002t0003g0219 a0075c0121t0003g0210 a0083c0076t0001g0189	3	102	0.0294	17	c.-45 others(34): Show c.-45-9514_-45-9498dupAAAAAAAAAAAAAAAAA	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122028848	C C	CCTCCCCT others(10): Show CCTCCCCTCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0034 a0034	a0034c0036 a0034c0036	a0034c0036t0004 a0034c0036t0004	a0034c0036t0004g0265 a0034c0036t0004g0265	1	304	0.0033	17	c.33+ others(32): Show c.33+6834_33+6835insCTCCCCTCCTCTCCCCT	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	2/22			chr10	TogoVar
TACC2_chr10_121984163_122259542	122126347	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01070.hp1 HG01070.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0019 a0001c0001 a0013c0019	a0001c0001t0002 a0013c0019t0003 a0001c0001t0002 a0013c0019t0003	a0001c0001t0002g0174 a0013c0019t0003g0083 a0001c0001t0002g0174 a0013c0019t0003g0083	2	302	0.0066	17	c.557 others(36): Show c.5574-6262_5574-6261insGTGTGTGTGTGTGTGTG	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	5/22			chr10	TogoVar
TACC3_chr4_1716521_1750171	1733976	C C	CTGTTGAA others(10): Show CTGTTGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18944.hp1 HG00423.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0153 a0001c0001t0001g0158	2	260	0.0077	17	c.159 others(36): Show c.1592-1297_1592-1296insTGTTGAAAAAAGAAAAG	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding	6/15			chr4	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	133	0.0075	17	c.584 others(36): Show c.584+25714_584+25715insATATATATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75094860	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02056.hp1 others(4): Show HG00408.hp1 HG02015.hp1 HG02056.hp1 HG02135.hp2 NA18966.hp1 NA18988.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0094 a0001c0001t0010g0005 a0001c0001t0012g0127 others(4): Show a0001c0001t0003g0094 a0001c0001t0010g0005 a0001c0001t0012g0127 a0001c0001t0013g0092 a0001c0002t0001g0211 a0001c0002t0002g0244 a0001c0002t0002g0275	7	251	0.0279	17	c.584 others(36): Show c.584+25713_584+25714insTATATATATATATATAT	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75154405	C C	CGCTCGCG others(10): Show CGCTCGCGTGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	274	0.0036	17	c.390 others(36): Show c.390-33638_390-33637insTGCGCGCGCACGCGAGC	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75154405	C C	CGCTCGCG others(10): Show CGCTCGCGTGCGCGCGCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0052 a0001c0003t0004g0052	1	274	0.0036	17	c.390 others(36): Show c.390-33638_390-33637insAGCGCGCGCACGCGAGC	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TACR2_chr10_69398903_69421918	69408886	G G	GCCCCGCC others(10): Show GCCCCGCCCCCGCCAGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp1 HG01081.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0029 a0001c0001t0013 a0001c0001t0029	a0001c0001t0013g0055 a0001c0001t0029g0073 a0001c0001t0013g0055 a0001c0001t0029g0073	2	380	0.0053	17	c.741 others(30): Show c.741+35_741+36insGCCTGGCGGGGGCGGGG	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	3/4			chr10	TogoVar

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