Joint Open Genome and Omics Platform (JoGo)

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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
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	131	0.0076	48	c.483 others(65): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32C_chr10_132202492_132312950	132250313	A A	AGAGAGGG others(41): Show AGAGAGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(16): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp2 HG02071.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 NA19030.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0020 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0017 a0001c0010t0018 a0001c0020t0002 a0001c0022t0003	a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0050 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0293 a0001c0002t0002g0038 a0001c0002t0002g0056 a0001c0002t0002g0186 a0001c0002t0002g0339 a0001c0003t0017g0191 a0001c0010t0018g0196 a0001c0020t0002g0284 a0001c0022t0003g0292	19	229	0.0830	48	c.263 others(65): Show c.263-4406_263-4359dupCTCTCTGCAGTGACCTGTCCCGTGCGCC TCACACACACCTGCCCTCTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132253525	C C	CGGAGGGA others(41): Show CGGAGGGAGCTGGAGGGAGTCGAGGGAGCTGGAGGGAGTCGAGGGAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	358	0.0028	48	c.263 others(65): Show c.263-7618_263-7571dupAGCTCCCTCGACTCCCTCCAGCTCCCTC GACTCCCTCCAGCTCCCTCC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	127	0.0079	48	c.947 others(63): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCACC others(41): Show CCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0027 a0001c0003t0034g0027	1	146	0.0068	48	c.-48 others(67): Show c.-48+25115_-48+25116insACCTCCCTCCCGGACGGGGCTGCTGG CCGGGCGGGGGGCTGACGCCCC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	100	0.0100	48	c.-43 others(57): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	213	0.0047	48	c.205 others(65): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(41): Show ATATATATATATATATATATATATCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0320 a0001c0002t0003g0320	1	278	0.0036	48	c.-35 others(57): Show c.-356_-355insGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATA TATATATATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023145	C C	CTCTCTCT others(41): Show CTCTCTCTCCTCTCTCTTCTCTCTCTCTCTCCTCTCTCCTCTCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0314 a0001c0001t0029g0314	1	337	0.0030	48	c.-47 others(57): Show c.-473_-472insAGAGGAGAGAGGAGAGAGGAGAGAGAGAGAGAAGAG AGAGGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		276		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771862	C C	CATATATA others(41): Show CATATATAAATACATATGATATCTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02717.hp1 NA20129.hp2 HG00642.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298	3	230	0.0130	48	c.439 others(63): Show c.439-803_439-802insATATATAAATACATATGATATCTATATATC ATATATAAATACATATGA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18			chr1	TogoVar
SUGT1_chr13_52647836_52705909	52702972	A A	ATTTATCT others(41): Show ATTTATCTTCGACTGCATTTTTCTTTATCCTAGTGCTGTTTCCCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0002 a0001c0001t0065g0002	1	308	0.0032	48	c.15 others(61): Show c.15137_*15138insTTTATCTTCGACTGCATTTTTCTTTATCCTAG TGCTGTTTCCCTGGAG	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		2064		chr13	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(41): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	106	0.0094	48	c.912 others(65): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTTATTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(41): Show GCCTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	121	0.0083	48	c.102 others(69): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATATATATATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0035 a0001c0001t0001g0082	2	289	0.0069	48	c.706 others(65): Show c.706+4079_706+4080insGTGTATATACATATATATATATATATAT ATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SV2C_chr5_76078383_76338956	76172080	T T	TGCCCGGC others(41): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 HG03195.hp2 others(4): Show HG02083.hp1 HG02523.hp1 HG03195.hp2 NA19007.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0004 a0001c0001 a0001c0009 a0003c0004	a0001c0001t0002 a0001c0001t0022 a0001c0001t0077 others(4): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 a0001c0009t0076 a0003c0004t0019 a0003c0004t0058	a0001c0001t0002g0094 a0001c0001t0022g0214 a0001c0001t0077g0212 others(4): Show a0001c0001t0002g0094 a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 a0001c0009t0076g0213 a0003c0004t0019g0145 a0003c0004t0058g0051	7	232	0.0302	48	c.581 others(67): Show c.581-22823_581-22822insCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172289	G G	GGGGGGGT others(41): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 NA19007.hp1 others(2): Show HG02083.hp1 HG02523.hp1 NA19007.hp1 NA19081.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 others(2): Show a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 a0003c0004t0019 a0003c0004t0058	a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 others(2): Show a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 a0003c0004t0019g0145 a0003c0004t0058g0051	5	230	0.0217	48	c.581 others(67): Show c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172408	C C	CCGGGAGG others(41): Show CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18951.hp2 NA18975.hp1 others(1): Show HG02015.hp2 NA18951.hp2 NA18975.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 others(1): Show a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 a0002c0003t0059	a0001c0001t0001g0057 a0001c0001t0054g0063 a0001c0001t0055g0064 others(1): Show a0001c0001t0001g0057 a0001c0001t0054g0063 a0001c0001t0055g0064 a0002c0003t0059g0043	4	232	0.0172	48	c.581 others(67): Show c.581-22492_581-22491insTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCGGGAGGGAGGTGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390336	C C	CTTATATA others(41): Show CTTATATAAGTATATATATACTTATATATATACTTATATAAGTATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19080.hp2 NA19010.hp1 NA19080.hp2	a0009 a0016 a0009 a0016	a0009c0010 a0016c0012 a0009c0010 a0016c0012	a0009c0010t0003 a0016c0012t0003 a0009c0010t0003 a0016c0012t0003	a0009c0010t0003g0169 a0016c0012t0003g0304 a0009c0010t0003g0169 a0016c0012t0003g0304	2	295	0.0068	48	c.982 others(65): Show c.9823-750_9823-749insATATATACTTATATAAGTATATATATAA GTATATATATACTTATATAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0025 a0025	a0025c0087 a0025c0087	a0025c0087t0002 a0025c0087t0002	a0025c0087t0002g0352 a0025c0087t0002g0352	1	217	0.0046	48	c.982 others(67): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATATATATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGAAAGG others(41): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02897.hp2 NA19000.hp1 HG01243.hp2 HG02897.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0023 a0001c0002t0074 a0001c0001t0049 a0001c0002t0023 a0001c0002t0074	a0001c0001t0049g0017 a0001c0002t0023g0279 a0001c0002t0074g0264 a0001c0001t0049g0017 a0001c0002t0023g0279 a0001c0002t0074g0264	3	108	0.0278	48	c.92 others(59): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTTCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	120	0.0083	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	120	0.0083	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	120	0.0083	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTATATA others(41): Show TGTATATATATATATACACATACGTGTATATATACACACATACACATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0359 a0001c0001t0015g0359	1	257	0.0039	48	c.158 others(67): Show c.1582-3597_1582-3596insATATATATATATACACATACGTGTAT ATATACACACATACACATACGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884218	C C	CATACACA others(41): Show CATACACATACGTGTATATATACACATACACATACACATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG02055.hp1 others(18): Show HG00558.hp2 HG01109.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02818.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18980.hp1 NA19004.hp1 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0036 a0001c0001t0054 a0001c0001t0056	a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0106 others(18): Show a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0006g0322 a0001c0001t0012g0303 a0001c0001t0012g0371 a0001c0001t0027g0357 a0001c0001t0027g0362 a0001c0001t0036g0336 a0001c0001t0054g0222 a0001c0001t0056g0141	21	315	0.0667	48	c.158 others(67): Show c.1582-3528_1582-3527insCACATACGTGTATATATACACATACA CATACACATACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884477	A A	ATATACAC others(41): Show ATATACACATGTGTGTACATATACATACATATACACATGTGTGTACATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0192 a0001c0003t0011g0192	1	338	0.0030	48	c.158 others(67): Show c.1582-3270_1582-3269insTACACATGTGTGTACATATACATACA TATACACATGTGTGTACATGTA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG02040.hp1 others(1): Show HG00673.hp1 HG00735.hp1 HG02040.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0066 a0001c0001t0001 a0001c0001t0002 a0001c0001t0066	a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0002g0057 a0001c0001t0066g0052	4	14	0.2857	48	c.711 others(69): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0167 a0002c0002t0004g0167	1	21	0.0476	48	c.711 others(67): Show c.711+50590_711+50591insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03453.hp1 HG03831.hp2 others(3): Show HG03239.hp2 HG03453.hp1 HG03831.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0002c0002t0005	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0003g0169 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0003g0169 a0001c0001t0009g0090 a0001c0001t0032g0150 a0002c0002t0005g0089	6	26	0.2308	48	c.711 others(67): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNCRIP_chr6_85608976_85647886	85621913	T T	TGTAGGCG others(41): Show TGTAGGCGACTTCATTACAAGATTGTGATGGCTATACAATTATGGCTAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02559.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	362	0.0055	48	c.100 others(65): Show c.1008+521_1008+568dupTTAGCCATAATTGTATAGCCATCACAAT CTTGTAATGAAGTCGCCTAC	SYNCRIP	ENSG00000135316.20	transcript	ENST00000369622.8	protein_coding	8/10			chr6	TogoVar
SYNE3_chr14_95402266_95521650	95429967	T T	TAAGGAAG others(41): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG02818.hp1 others(3): Show HG00639.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG06807.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0022 a0001c0032 a0002c0041 others(2): Show a0001c0022 a0001c0032 a0002c0041 a0003c0004 a0006c0044	a0001c0022t0163 a0001c0032t0166 a0002c0041t0143 others(2): Show a0001c0022t0163 a0001c0032t0166 a0002c0041t0143 a0003c0004t0031 a0006c0044t0030	a0001c0022t0163g0191 a0001c0032t0166g0251 a0002c0041t0143g0003 others(3): Show a0001c0022t0163g0191 a0001c0032t0166g0251 a0002c0041t0143g0003 a0003c0004t0031g0080 a0006c0044t0030g0041 a0006c0044t0030g0042	6	85	0.0706	48	c.272 others(67): Show c.2727+2111_2727+2112insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNJ1_chr21_32623763_32733013	32713548	A A	AGATGATT others(41): Show AGATGATTTCCCATATGTCAACATGGATGATTTCCCATATGTCAACATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp2 HG02698.hp1 HG01168.hp1 HG01261.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0281 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0281	3	282	0.0106	48	c.125 others(67): Show c.125-11549_125-11502dupCATGTTGACATATGGGAAATCATCCA TGTTGACATATGGGAAATCATC	SYNJ1	ENSG00000159082.18	transcript	ENST00000674351.1	protein_coding	2/32			chr21	TogoVar
SYNJ1_chr21_32623763_32733013	32713636	G G	GTCAACAT others(41): Show GTCAACATGGATGATTTCCCATATATCAACATGGATGATTTCCCATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	177	0.0056	48	c.125 others(67): Show c.125-11637_125-11590dupTATATGGGAAATCATCCATGTTGATA TATGGGAAATCATCCATGTTGA	SYNJ1	ENSG00000159082.18	transcript	ENST00000674351.1	protein_coding	2/32			chr21	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(41): Show ATATATATATATATATATATTATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	59	0.0169	48	c.-64 others(57): Show c.-645_-644insTATATATATATATATATATTATATATATATATTTTT TTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNPO2_chr4_118883854_119066247	119007239	T T	TATACATA others(41): Show TATACATATATATATATATATGTATATACATATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0108 a0002c0003t0007g0108	1	307	0.0033	48	c.106 others(67): Show c.106-16188_106-16187insCATATATATATATATATGTATATACA TATATATATATGTATATACATA	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119007254	A A	ATATATAT others(41): Show ATATATATATGTATATATATACATATATATATGTATATACATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0011 a0004c0039t0011	a0004c0039t0011g0044 a0004c0039t0011g0044	1	307	0.0033	48	c.106 others(67): Show c.106-16167_106-16166insGTATATATATACATATATATATGTAT ATACATATATATGTATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119007261	T T	TATATGTA others(41): Show TATATGTATATACATATATATATGTATATACATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0161 a0002c0003t0024g0184 a0002c0003t0024g0161 a0002c0003t0024g0184	2	305	0.0066	48	c.106 others(67): Show c.106-16165_106-16164insGTATATACATATATATATGTATATAC ATATATATATGTATATACATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63313916	T T	TATATATA others(41): Show TATATATATCCATATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	228	0.0044	48	c.84+ others(65): Show c.84+35182_84+35183insCCATATATATATCCATATATATATCCAT ATATATATATCCATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT14_chr1_209933217_210176315	210071264	G G	GTAAGTAG others(41): Show GTAAGTAGTATAATTTATATATATATATATATATATAAGTAGTATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp2 others(40): Show HG00280.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp2 NA18953.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18988.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0001t0038 a0001c0001t0042 a0001c0001t0051 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0087 a0002c0002t0008 a0002c0002t0018 a0002c0003t0001 a0002c0003t0002 a0002c0003t0014 a0002c0003t0015	a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0247 others(40): Show a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0005g0134 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0277 a0001c0001t0005g0347 a0001c0001t0025g0292 a0001c0001t0025g0294 a0001c0001t0038g0272 a0001c0001t0042g0262 a0001c0001t0042g0281 a0001c0001t0051g0306 a0001c0001t0063g0261 a0001c0001t0066g0242 a0001c0001t0067g0228 a0001c0001t0087g0238 a0002c0002t0008g0313 a0002c0002t0008g0320 a0002c0002t0008g0334 a0002c0002t0018g0296 a0002c0003t0001g0282 a0002c0003t0002g0305 a0002c0003t0002g0307 a0002c0003t0002g0321 a0002c0003t0002g0322 a0002c0003t0002g0324 a0002c0003t0002g0326 a0002c0003t0002g0331 a0002c0003t0002g0337 a0002c0003t0014g0297 a0002c0003t0015g0323 a0002c0003t0015g0346	43	295	0.1458	48	c.443 others(67): Show c.443-23047_443-23046insATTTATATATATATATATATATATAA GTAGTATAAAATAAGTAGTATA	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT1_chr12_78859774_79457008	79178948	A A	ATCTATAT others(41): Show ATCTATATAGATATAGATATATCTATATAGATATAGATATAGATATATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	30	0.0333	48	c.-17 others(67): Show c.-17-38555_-17-38554insTCTATATAGATATAGATATATCTATA TAGATATAGATATAGATATATC	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10			chr12	TogoVar
SYT6_chr1_114084292_114158869	114149222	T T	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0402 a0001c0001t0011g0402	1	364	0.0027	48	c.163 others(65): Show c.163+4387_163+4388insGCGCGCGCGCGCGCGCGCGCGCACACAC ACACACACACACACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149222	T T	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0281 a0001c0001t0010g0281	1	364	0.0027	48	c.163 others(65): Show c.163+4387_163+4388insGCGCGCGCACGCACACACACACACACAC ACACACACACACACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158705006	G G	GACCTGGG others(41): Show GACCTGGGGACAGGGTGACAGGGCTATAAGGCCATGTAGGACAGGAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0047 a0003c0014t0001g0047	1	290	0.0034	48	c.395 others(65): Show c.395-2221_395-2220insTGGGGACAGGGTGACAGGGCTATAAGGC CATGTAGGACAGGAAGAACC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAAR5_chr6_132583592_132594741	132590865	C C	CTAATTTC others(41): Show CTAATTTCATTTTTAGTGAGTTTCTTATTTCTCTTCTGCTTTAGGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	442	0.0023	48	c.-11 others(59): Show c.-1180_-1179insTAATCCTAAAGCAGAAGAGAAATAAGAAACTCAC TAAAAATGAAATTA	TAAR5	ENSG00000135569.5	transcript	ENST00000258034.4	protein_coding		1125		chr6	TogoVar
TAB3_chrX_30822442_30894254	30868316	T T	TATATATA others(41): Show TATATATATAAGCTTTTATATATATATAGCTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	223	0.0045	48	c.-27 others(65): Show c.-279-768_-279-767insTATATATATATATATATAAGCTATATAT ATATAAAAGCTTATATATAT	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TACC2_chr10_121984163_122259542	122132032	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0087 a0087	a0087c0081 a0087c0081	a0087c0081t0001 a0087c0081t0001	a0087c0081t0001g0250 a0087c0081t0001g0250	1	224	0.0045	48	c.557 others(65): Show c.5574-561_5574-560insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGAAAGAAAGAAAGAAAG	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC3_chr4_1716521_1750171	1749264	T T	TGCACCCC others(41): Show TGCACCCCCTCCCCAACACGCCCCCTCCCCACTGCCCCCCCTCCCCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02145.hp2 others(4): Show HG01167.hp1 HG01891.hp1 HG02145.hp2 HG02886.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0021 a0001c0006t0004g0065 a0001c0006t0004g0066 others(3): Show a0001c0006t0004g0021 a0001c0006t0004g0065 a0001c0006t0004g0066 a0001c0006t0004g0067 a0001c0006t0004g0069 a0001c0006t0004g0070	7	342	0.0205	48	c.42 others(59): Show c.4251_*4252insGCACCCCCTCCCCAACACGCCCCCTCCCCACTGC CCCCCCTCCCCAAG	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding		4094		chr4	TogoVar
TACR2_chr10_69398903_69421918	69409896	T T	TATATATA others(41): Show TATATATATACATATATATATATACATATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	48	c.588 others(63): Show c.588-822_588-821insGTATATATATATATATGTATATATGTATAT ATATATATGTATATATAT	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4			chr10	TogoVar
TAF11L2_chr5_17493231_17503827	17493385	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 NA18946.hp2 HG01975.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	2	24	0.0833	48	c.-48 others(59): Show c.-4846_-4845insATATATATATATATATATATATATATATATATAT ATATATATATATAT	TAF11L2	ENSG00000284373.1	transcript	ENST00000639081.1	protein_coding		4845		chr5	TogoVar
TAF4_chr20_61969798_62070881	61978262	A A	AGACCAAC others(41): Show AGACCAACCAAGGGAGGGCGCGACACCAACCAAGGGAGGGCGCGACACC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02300.hp1 others(5): Show HG01106.hp2 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0002t0001g0248 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0216	8	220	0.0364	48	c.309 others(67): Show c.3091-1928_3091-1927insGGTGTCGCGCCCTCCCTTGGTTGGTG TCGCGCCCTCCCTTGGTTGGTC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar

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