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
STOM_chr9_121333987_121375250	121357437	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18941.hp2 NA18952.hp1 others(1): Show HG01433.hp2 NA18941.hp2 NA18952.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0228 a0001c0001t0004g0005 a0001c0001t0009g0044 a0001c0001t0003g0228 a0001c0001t0004g0005 a0001c0001t0009g0044	4	357	0.0112	34	c.62- others(49): Show c.62-1282_62-1281insAATATATATATATATATATATATATATATA TATA	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STON2_chr14_81255652_81405324	81308824	A A	ATATATGT others(27): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0027 a0001c0010t0027	a0001c0010t0027g0256 a0001c0010t0027g0256	1	224	0.0045	34	c.742 others(53): Show c.742+15192_742+15193insCACACACACACACACACACACACACA CACATATA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STPG2_chr4_97553872_98148476	97616092	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	142	0.0070	34	c.132 others(55): Show c.1321-56976_1321-56975insCATATATATATATATATATATATA TATATATATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(27): Show CACACACACACACACATACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	32	0.0313	34	c.21 others(45): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTATGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(27): Show CACACACACACACACAGAGTGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG04115.hp2 HG01256.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0215 a0001c0001t0001g0098 a0001c0001t0001g0215	2	320	0.0063	34	c.19 others(45): Show c.1977_*1978insCTCTCTCTCTCTCTCACTCTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STPG4_chr2_47081991_47160308	47092551	A A	AGGGAGGG others(27): Show AGGGAGGGGAGGGAGAAGGGGAGGGGAGGGAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18946.hp1 HG01109.hp1 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0274 a0002c0002t0001g0272 a0001c0001t0001g0274 a0002c0002t0001g0272	2	339	0.0059	34	c.520 others(51): Show c.520-2211_520-2178dupCTTCTCCCTCCCCTCCCCTTCTCCCTCC CCTCCC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	231	0.0043	34	c.-45 others(51): Show c.-45+1633_-45+1634insGTGTGTGTATATATATATATATATATAT ATATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRADA_chr17_63697832_63746799	63740147	T T	TATACACA others(27): Show TATACACATACATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	142	0.0070	34	c.-45 others(51): Show c.-45+1593_-45+1594insGTGTGTGTGTGTGTGTGTATATATGTAT GTGTAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRN_chr2_36832698_36971536	36948081	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0281 a0001c0001t0016g0281	1	30	0.0333	34	c.234 others(53): Show c.234+18115_234+18148dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STX18_chr4_4413968_4547048	4527773	A A	ATTATATA others(27): Show ATTATATATATATAATTTTATATATATATATGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01070.hp2 others(38): Show HG00140.hp2 HG00280.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG02129.hp1 HG02145.hp2 HG02293.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03540.hp2 HG03834.hp1 NA18940.hp1 NA18950.hp2 NA18960.hp2 NA18961.hp1 NA18978.hp1 NA18993.hp2 NA18998.hp2 NA19010.hp1 NA19054.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0066 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0106 a0001c0001t0002g0210 a0001c0001t0011g0234	41	244	0.1680	34	c.168 others(53): Show c.168+13990_168+14023dupAAACATATATATATATAAAATTATAT ATATATAA	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX18_chr4_4413968_4547048	4527867	C C	CACACACA others(27): Show CACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0003 a0007c0008t0002g0003	1	180	0.0056	34	c.168 others(53): Show c.168+13929_168+13930insATATATATATATATATATATGTGTGT GTGTGTGT	STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10			chr4	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0059 a0003c0003t0003g0059	1	213	0.0047	34	c.205 others(51): Show c.205+3503_205+3504insATATATATATATATATATATATTTTTTT TTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18972.hp2 HG03710.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0091 a0002c0002t0002g0003 a0002c0002t0002g0091	2	214	0.0093	34	c.205 others(51): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT TTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130839548	T T	TATGCCGA others(27): Show TATGCCGAACCTTCTCTTTAAGGGTCCACGCGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	378	0.0026	34	c.-45 others(43): Show c.-450_-449insCTGCGCGTGGACCCTTAAAGAGAAGGTTCGGCAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		299		chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(27): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0290	1	278	0.0036	34	c.-35 others(43): Show c.-356_-355insGAGAGGAGAGAGAGGAGAGAGAGAGAGAGATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STXBP2_chr19_7632110_7652873	7644000	G G	GTGAGGGG others(27): Show GTGAGGGGTGGAACCTTGGAGAGCTGAGACCTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01123.hp2 others(12): Show HG01069.hp2 HG01099.hp2 HG01123.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG02300.hp1 NA18969.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0019 a0001c0001 a0008c0019	a0001c0001t0001 a0008c0019t0001 a0001c0001t0001 a0008c0019t0001	a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0096 a0001c0001t0001g0101 a0008c0019t0001g0061	15	428	0.0350	34	c.110 others(51): Show c.1108-599_1108-598insTGGAGAGCTGAGACCTGGATGAGGGGTG GAACCT	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP2_chr19_7632110_7652873	7644166	C C	CTGGGTGA others(27): Show CTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp2 NA19043.hp2 HG02965.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0025 a0001c0003t0004g0025 a0001c0003t0001g0025 a0001c0003t0004g0025	3	175	0.0171	34	c.110 others(51): Show c.1108-429_1108-428insTGGAGAGGTGGGACTTGGGTGAGGGGTG GAGCCT	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP3_chr1_108741674_108814523	108772038	A A	ATATCTAT others(27): Show ATATCTATATATCATATATAAATACATATGATATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19079.hp1 HG01106.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0103 a0001c0001t0002g0051 a0001c0001t0002g0103	2	125	0.0160	34	c.439 others(49): Show c.439-498_439-465dupATGATATCTATCTATATATCATATATAAAT ACAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108782904	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	332	0.0030	34	c.963 others(49): Show c.963+202_963+203insTTTTTTTTTTTTTTTTTTTTTTTTTTATTT TTTT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5_chr6_147199417_147395473	147213434	A A	ATATATGT others(27): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0174 a0002c0002t0008g0174	1	235	0.0043	34	c.248 others(51): Show c.248+7367_248+7368insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA20300.hp2 HG00544.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0192 a0003c0003t0005g0245 a0001c0001t0001g0192 a0003c0003t0005g0245	2	36	0.0556	34	c.106 others(55): Show c.1063-21623_1063-21622insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637559	T T	TATATAGA others(27): Show TATATAGAGCTGTTGGGGGGGGGTGTTGGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0065 a0001c0002t0025g0065	1	266	0.0038	34	c.74 others(45): Show c.7404_*7405insATATAGAGCTGTTGGGGGGGGGTGTTGGTGTATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4025		chr10	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	11	0.0909	34	c.13 others(47): Show c.13967_*13968insACACACACACACACACACACACACACACACAC AC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULF1_chr8_69487847_69665912	69616128	G G	GTGTATAT others(27): Show GTGTATATATATATACACACATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0279 a0002c0002t0016g0279	1	276	0.0036	34	c.137 others(53): Show c.1378-4906_1378-4905insGTATATATATATACACACATATATAT GTGTGTAT	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULT1C3_chr2_108234968_108265886	108254805	A A	ATATGTAT others(27): Show ATATGTATATATGTGTATATATATGCATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03239.hp2 HG03704.hp2 others(11): Show HG02129.hp1 HG03239.hp2 HG03704.hp2 HG04115.hp1 NA18951.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18992.hp2 NA19077.hp2 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0018 a0004c0005t0001g0019 a0004c0005t0001g0033 others(5): Show a0004c0005t0001g0018 a0004c0005t0001g0019 a0004c0005t0001g0033 a0004c0005t0001g0034 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058	14	374	0.0374	34	c.400 others(49): Show c.400-745_400-744insTGCATATATATGTATGTATATATGTGTATA TATA	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(27): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	82	0.0122	34	c.214 others(49): Show c.214+280_214+281insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUMF1_chr3_4356146_4472269	4456640	A A	ATATATAT others(27): Show ATATATATATGTGTGTGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01934.hp1 HG01257.hp1 HG01258.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0011 a0001c0002t0001g0317 a0001c0001t0003g0011 a0001c0002t0001g0317	3	333	0.0090	34	c.271 others(51): Show c.271-3592_271-3591insCACGTATATATATATATACACACACATA TATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4457058	G G	GTGTATAT others(27): Show GTGTATATATATATATATATACGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18997.hp1 NA19012.hp1 others(1): Show HG01123.hp2 NA18997.hp1 NA19012.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0327 a0001c0001t0002g0366 a0001c0001t0003g0329 others(1): Show a0001c0001t0002g0327 a0001c0001t0002g0366 a0001c0001t0003g0329 a0001c0001t0004g0328	4	305	0.0131	34	c.271 others(51): Show c.271-4010_271-4009insTATATACACACACGTATATATATATATA TATACA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4457058	G G	GTGTATAT others(27): Show GTGTATATATATATATATATACGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG03453.hp2 HG02559.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0320 a0001c0001t0002g0319 a0001c0001t0010g0321 a0001c0001t0001g0320 a0001c0001t0002g0319 a0001c0001t0010g0321	3	304	0.0099	34	c.271 others(51): Show c.271-4010_271-4009insTATACACACACACGTATATATATATATA TATACA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF2_chr7_56059286_56085670	56075856	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	410	0.0024	34	c.536 others(49): Show c.536-972_536-971insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUMF2	ENSG00000129103.19	transcript	ENST00000434526.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUMO2_chr17_75160586_75187959	75162278	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	18	0.0556	34	c.60 others(45): Show c.6027_*6060dupATATATATATATATATATATATATATATATATAT	SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding		3307		chr17	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02109.hp1 HG01981.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0077 a0002c0002t0001g0080	2	50	0.0400	34	c.212 others(49): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA GAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(27): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	214	0.0047	34	c.-14 others(45): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24360488	C C	CACACACA others(27): Show CACACACACACACGTACACACATACACACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03209.hp1 HG03225.hp1 HG01952.hp1 HG03209.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0024 a0002c0002 a0002c0024	a0002c0002t0003 a0002c0024t0003 a0002c0002t0003 a0002c0024t0003	a0002c0002t0003g0000 a0002c0024t0003g0000 a0002c0002t0003g0000 a0002c0024t0003g0000	3	275	0.0109	34	c.-22 others(45): Show c.-2273_-2272insACACACACACACGTACACACATACACACACACTG	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		150		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	45120417	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	5	0.2000	34	c.102 others(53): Show c.102-14412_102-14411insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(27): Show GCATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	121	0.0083	34	c.102 others(55): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18948.hp1 HG00621.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0236 a0001c0001t0001g0079 a0001c0001t0001g0236	2	29	0.0690	34	c.101 others(55): Show c.101+111352_101+111353insATATATATATATATATATATATAT ATATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253872	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18952.hp2 HG01433.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0075 a0001c0001t0001g0077	2	243	0.0082	34	c.101 others(55): Show c.101+111328_101+111329insGTATATATATATATATATATATAT ATATATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01256.hp2 others(8): Show HG00099.hp1 HG00558.hp1 HG01256.hp2 HG01433.hp1 HG02622.hp1 HG02922.hp2 HG03195.hp2 HG03654.hp2 NA18957.hp1 NA18980.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008	a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001	a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 others(8): Show a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0006t0001g0165 a0001c0008t0001g0169	11	13	0.8462	34	c.-32 others(51): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD1_chr9_112035783_112180297	112086562	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 HG02895.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0086 a0001c0002t0004g0144 a0001c0001t0001g0086 a0001c0002t0004g0144	2	315	0.0063	34	c.147 others(53): Show c.1475-6398_1475-6397insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	10/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268011	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	99	0.0101	34	c.535 others(49): Show c.535+490_535+491insTATATATATATATATATATATATATATATA TATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD4_chr1_223215831_223369176	223268013	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18952.hp1 HG01192.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0124 a0001c0001t0001g0075 a0001c0001t0001g0124	2	14	0.1429	34	c.535 others(49): Show c.535+488_535+489insTATATATATATATATATATATATATATATA TATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(27): Show TTATATATACTTATATATATACTTATATAAGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00673.hp1 others(70): Show HG00408.hp1 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01099.hp1 HG01257.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp1 HG02735.hp2 HG03017.hp1 HG03491.hp2 HG03927.hp1 HG03927.hp2 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19090.hp1	a0001 a0002 a0005 others(20): Show a0001 a0002 a0005 a0006 a0009 a0010 a0012 a0015 a0016 a0025 a0028 a0029 a0034 a0040 a0044 a0054 a0057 a0065 a0073 a0077 a0086 a0093 a0105	a0001c0002 a0001c0122 a0002c0001 others(28): Show a0001c0002 a0001c0122 a0002c0001 a0002c0141 a0002c0160 a0002c0164 a0005c0006 a0005c0007 a0005c0094 a0005c0106 a0006c0003 a0009c0010 a0009c0046 a0010c0039 a0012c0025 a0015c0011 a0016c0012 a0025c0087 a0028c0038 a0029c0021 a0034c0156 a0040c0078 a0044c0052 a0054c0044 a0057c0051 a0065c0149 a0073c0119 a0077c0074 a0086c0075 a0093c0150 a0105c0091	a0001c0002t0002 a0001c0122t0002 a0002c0001t0001 others(32): Show a0001c0002t0002 a0001c0122t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0141t0002 a0002c0160t0007 a0002c0164t0006 a0005c0006t0002 a0005c0007t0001 a0005c0007t0002 a0005c0094t0001 a0005c0106t0002 a0006c0003t0002 a0009c0010t0001 a0009c0046t0002 a0010c0039t0002 a0012c0025t0002 a0015c0011t0002 a0016c0012t0014 a0025c0087t0002 a0028c0038t0002 a0029c0021t0001 a0029c0021t0002 a0034c0156t0007 a0040c0078t0002 a0044c0052t0002 a0054c0044t0002 a0057c0051t0001 a0065c0149t0002 a0073c0119t0002 a0077c0074t0002 a0086c0075t0015 a0093c0150t0002 a0105c0091t0001	a0001c0002t0002g0028 a0001c0002t0002g0154 a0001c0002t0002g0166 others(70): Show a0001c0002t0002g0028 a0001c0002t0002g0154 a0001c0002t0002g0166 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0253 a0001c0002t0002g0269 a0001c0002t0002g0273 a0001c0002t0002g0335 a0001c0122t0002g0246 a0002c0001t0001g0184 a0002c0001t0002g0167 a0002c0001t0002g0205 a0002c0001t0002g0214 a0002c0001t0002g0259 a0002c0001t0002g0264 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0303 a0002c0001t0002g0306 a0002c0001t0002g0330 a0002c0001t0002g0332 a0002c0001t0003g0312 a0002c0141t0002g0323 a0002c0160t0007g0018 a0002c0164t0006g0012 a0005c0006t0002g0022 a0005c0006t0002g0032 a0005c0006t0002g0165 a0005c0006t0002g0227 a0005c0006t0002g0261 a0005c0006t0002g0266 a0005c0006t0002g0295 a0005c0006t0002g0325 a0005c0007t0001g0178 a0005c0007t0001g0267 a0005c0007t0002g0148 a0005c0007t0002g0228 a0005c0007t0002g0334 a0005c0094t0001g0177 a0005c0106t0002g0048 a0006c0003t0002g0150 a0006c0003t0002g0308 a0009c0010t0001g0274 a0009c0046t0002g0241 a0009c0046t0002g0281 a0010c0039t0002g0164 a0010c0039t0002g0305 a0012c0025t0002g0139 a0015c0011t0002g0268 a0015c0011t0002g0310 a0015c0011t0002g0314 a0015c0011t0002g0316 a0015c0011t0002g0317 a0016c0012t0014g0262 a0025c0087t0002g0352 a0028c0038t0002g0280 a0028c0038t0002g0284 a0029c0021t0001g0248 a0029c0021t0002g0140 a0034c0156t0007g0015 a0040c0078t0002g0193 a0044c0052t0002g0247 a0044c0052t0002g0289 a0054c0044t0002g0275 a0057c0051t0001g0198 a0057c0051t0001g0221 a0065c0149t0002g0250 a0073c0119t0002g0263 a0077c0074t0002g0255 a0086c0075t0015g0175 a0093c0150t0002g0271 a0105c0091t0001g0159	73	270	0.2704	34	c.982 others(51): Show c.9823-755_9823-754insTATACTTATATAAGTATATATATAAGTA TATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0029 a0029	a0029c0021 a0029c0021	a0029c0021t0001 a0029c0021t0001	a0029c0021t0001g0248 a0029c0021t0001g0248	1	217	0.0046	34	c.982 others(53): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392151	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0049 a0049	a0049c0047 a0049c0047	a0049c0047t0003 a0049c0047t0003	a0049c0047t0003g0094 a0049c0047t0003g0094	1	353	0.0028	34	c.982 others(53): Show c.9823-2565_9823-2564insGATAGATATATATATATATATATATA TATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG01517.hp2 HG01243.hp2 HG01496.hp1 HG01517.hp2	a0008 a0067 a0008 a0067	a0008c0013 a0008c0059 a0067c0131 a0008c0013 a0008c0059 a0067c0131	a0008c0013t0001 a0008c0059t0003 a0067c0131t0003 a0008c0013t0001 a0008c0059t0003 a0067c0131t0003	a0008c0013t0001g0199 a0008c0059t0003g0128 a0067c0131t0003g0326 a0008c0013t0001g0199 a0008c0059t0003g0128 a0067c0131t0003g0326	3	38	0.0789	34	c.488 others(51): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SVOPL_chr7_138589285_138706362	138705111	T T	TTATCACA others(27): Show TTATCACATATATCATATATGATATATATCTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03579.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0353 a0001c0001t0010g0298 a0001c0001t0001g0353 a0001c0001t0010g0298	2	358	0.0056	34	c.-39 others(45): Show c.-3969_-3968insCACAAGATATATATCATATATGATATATGTGATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding		3750		chr7	TogoVar
SWAP70_chr11_9659077_9757993	9671297	A A	AAAATATA others(27): Show AAAATATATTTATAAATATAAATATAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG03225.hp1 HG02615.hp2 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0011 a0001c0007t0002 a0001c0002t0011 a0001c0007t0002	a0001c0002t0011g0046 a0001c0007t0002g0037 a0001c0007t0002g0039 a0001c0002t0011g0046 a0001c0007t0002g0037 a0001c0007t0002g0039	3	292	0.0103	34	c.99+ others(49): Show c.99+7031_99+7064dupTAAATATAAATATAAAAATATATAAATATA TTTA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9671389	A A	AATATATA others(27): Show AATATATATAAATATATAAAAATATATTTATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp1 HG02486.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0032 a0002c0001t0001g0033	2	285	0.0070	34	c.99+ others(49): Show c.99+7166_99+7199dupATATATTTATAAATATATATATAAATATAT AAAA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9671444	A A	ATATATTT others(27): Show ATATATTTATAAATATATATATAAATATATAAAAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19088.hp1 NA18983.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0036 a0002c0001t0001g0055 a0002c0001t0001g0036 a0002c0001t0001g0055	2	289	0.0069	34	c.99+ others(49): Show c.99+7197_99+7230dupAAAGTATATTTATAAATATATATATAAATA TATA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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