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
STN1_chr10_103872569_103923184	103909390	G G	GTATATAT others(21): Show GTATATATATATGTATATATATGTATGTA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0230 a0001c0002t0068g0230	1	253	0.0040	28	c.229 others(45): Show c.229+1136_229+1137insTACATACATATATATACATATATATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STN1_chr10_103872569_103923184	103909408	G G	GTATATAT others(21): Show GTATATATGTATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0283 a0002c0003t0018g0283	1	102	0.0098	28	c.229 others(45): Show c.229+1091_229+1118dupTACATATATATACATATATACATATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STN1_chr10_103872569_103923184	103909434	G G	GTGTATAT others(21): Show GTGTATATATGTATATATGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0291 a0001c0001t0008g0291	1	311	0.0032	28	c.229 others(45): Show c.229+1092_229+1093insTACATATATACATATATACATATATACA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STOML3_chr13_38960925_38995831	38988319	A A	AATATATT others(21): Show AATATATTTTATATCATATATTTTATATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01175.hp1 others(9): Show HG00735.hp2 HG01099.hp1 HG01175.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG02738.hp2 HG03490.hp2 HG03831.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0002g0042 a0001c0001t0002g0242 a0001c0001t0002g0257 others(7): Show a0001c0001t0002g0042 a0001c0001t0002g0242 a0001c0001t0002g0257 a0001c0001t0003g0252 a0001c0001t0003g0256 a0001c0001t0005g0012 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0011g0243	12	394	0.0305	28	c.52+ others(43): Show c.52+2350_52+2351insGATATAAAATATATGATATAAAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOM_chr9_121333987_121375250	121357424	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01358.hp2 others(12): Show HG00438.hp2 HG00597.hp2 HG01358.hp2 HG02071.hp2 HG03688.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp1 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA19055.hp2 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0082 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0258 a0001c0001t0003g0006 a0001c0001t0003g0239	15	220	0.0682	28	c.62- others(43): Show c.62-1269_62-1268insATATATATATATATATATATATATATAT	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STOM_chr9_121333987_121375250	121357424	G G	GATATTGA others(21): Show GATATTGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG02717.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0007g0248 a0001c0001t0007g0249	2	207	0.0097	28	c.62- others(43): Show c.62-1269_62-1268insATATATATATATATATATATATCAATAT	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STOM_chr9_121333987_121375250	121357437	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG02895.hp2 others(2): Show HG01255.hp2 HG01993.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0004g0005 a0001c0001t0004g0247	5	358	0.0140	28	c.62- others(43): Show c.62-1282_62-1281insAATATATATATATATATATATATATATA	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STON1_chr2_48525154_48603513	48564563	T T	TCTTCTTC others(21): Show TCTTCTTCTTCTTCTTCTTCTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0166 a0001c0003t0008g0166	1	325	0.0031	28	c.-47 others(47): Show c.-47-16019_-47-16018insTCTTCTTCTTCTTCTCTCTTCTCCTT CT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48590636	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18951.hp2 NA19000.hp2 NA18747.hp2 NA18951.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0136 a0001c0003t0008g0162 a0001c0003t0008g0163 a0001c0003t0008g0136 a0001c0003t0008g0162 a0001c0003t0008g0163	3	4	0.7500	28	c.193 others(45): Show c.1931-993_1931-992insACACACACACACACACACACACACACAC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183977546	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	132	0.0076	28	c.167 others(47): Show c.167-23761_167-23760insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STPG2_chr4_97553872_98148476	97616092	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	142	0.0070	28	c.132 others(49): Show c.1321-56976_1321-56975insCATATATATATATATATATATATA TATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	98008501	A A	ATAAAAAC others(21): Show ATAAAAACTCACAGGTTTTATAAATAGTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	264	0.0038	28	c.613 others(47): Show c.613-27184_613-27183insAACTATTTATAAAACCTGTGAGTTTT TA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	98072570	T T	TTAAAATA others(21): Show TTAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG03041.hp2 others(2): Show HG02486.hp2 HG02809.hp1 HG03041.hp2 HG03130.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 others(2): Show a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0100 a0003c0004t0001g0105	5	60	0.0833	28	c.612 others(47): Show c.612+33382_612+33383insTTATTTTATTTTATTTTATTTTATTT TA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(21): Show CACACACACACACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	32	0.0313	28	c.21 others(39): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(21): Show CACACACACACATACACACACAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0053 a0003c0003t0001g0053	1	32	0.0313	28	c.21 others(39): Show c.2198_*2199insCTCTCTCTGTGTGTGTATGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(21): Show CACACACACATACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp1 others(74): Show HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02922.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0015 a0002c0002 others(3): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0004c0005t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(73): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0005 a0001c0015t0001g0164 a0002c0002t0001g0288 a0002c0002t0001g0294 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0002t0001g0331 a0002c0002t0001g0336 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0033 a0003c0003t0001g0040 a0003c0003t0001g0048 a0003c0003t0001g0058 a0003c0003t0001g0063 a0004c0004t0001g0011 a0004c0005t0001g0014	77	108	0.7130	28	c.21 others(39): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTATGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(21): Show CACACACACATACACACAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19043.hp1 HG00673.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0178 a0003c0003t0001g0050 a0001c0001t0001g0178 a0003c0003t0001g0050	2	33	0.0606	28	c.21 others(39): Show c.2198_*2199insCTCTCTCTCTCTGTGTGTATGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(21): Show CACACACACATACACAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02970.hp2 others(1): Show HG02486.hp1 HG02622.hp1 HG02970.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0116 a0002c0002t0001g0290 a0002c0002t0001g0310 others(1): Show a0001c0001t0001g0116 a0002c0002t0001g0290 a0002c0002t0001g0310 a0003c0003t0001g0017	4	35	0.1143	28	c.21 others(39): Show c.2198_*2199insCTCTCTCTCTCTCTGTGTATGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(21): Show CACACACATACACACACAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	32	0.0313	28	c.21 others(39): Show c.2198_*2199insCTCTCTCTCTCTGTGTGTGTATGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(21): Show CACACACACACACACACACAGAGTGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	319	0.0031	28	c.19 others(39): Show c.1977_*1978insCTCTCACTCTGTGTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(21): Show CACACACACACACACACAGAGTGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	319	0.0031	28	c.19 others(39): Show c.1977_*1978insCTCTCTCACTCTGTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(21): Show CACACACACACACACAGAGTGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA20129.hp2 HG01358.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0313 a0002c0002t0001g0279 a0002c0002t0001g0313	2	320	0.0063	28	c.19 others(39): Show c.1977_*1978insCTCTCTCTCACTCTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0226 a0001c0001t0001g0200 a0001c0001t0001g0226	2	232	0.0086	28	c.-45 others(45): Show c.-45+1633_-45+1634insGTGTGTATATATATATATATATATATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 NA18971.hp1 HG02145.hp1 HG03579.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0148 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0001g0148 a0001c0001t0003g0184 a0001c0001t0003g0189	3	233	0.0129	28	c.-45 others(45): Show c.-45+1633_-45+1634insGTGTATATATATATATATATATATATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	231	0.0043	28	c.-45 others(45): Show c.-45+1633_-45+1634insGTATATATATATATATATATATATATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRADA_chr17_63697832_63746799	63740147	T T	TATACACA others(21): Show TATACACATACATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	142	0.0070	28	c.-45 others(45): Show c.-45+1593_-45+1594insGTGTGTGTGTGTATATATGTATGTGTAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRIT1_chr3_155285227_155298683	155298078	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02015.hp2 HG02083.hp1 others(2): Show HG01952.hp2 HG02015.hp2 HG02083.hp1 NA18960.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0003 a0001c0001t0011g0014 a0001c0001t0003g0003 a0001c0001t0011g0014	5	402	0.0124	28	c.-44 others(39): Show c.-4447_-4446insCTCTTTCTTTCTTTCTTTCTTTCTTTCT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4396		chr3	TogoVar
STRN3_chr14_30888804_31031379	30966119	G G	GCCAATCG others(21): Show GCCAATCGGAATTAGTTTAGCCTGTGCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0014 a0004c0006t0014	a0004c0006t0014g0208 a0004c0006t0014g0208	1	362	0.0028	28	c.283 others(45): Show c.283-9905_283-9878dupATGCACAGGCTAAACTAATTCCGATTGG	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0019 a0008c0012t0019	a0008c0012t0019g0330 a0008c0012t0019g0330	1	213	0.0047	28	c.205 others(45): Show c.205+3503_205+3504insATATATATATATATATTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19043.hp2 HG00741.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0292 a0002c0002t0002g0095 a0002c0002t0002g0292	2	214	0.0093	28	c.205 others(45): Show c.205+3503_205+3504insATATATATATATATATATATATATATTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181015357	T T	TCCCTTTC others(21): Show TCCCTTTCTAGCTTCCTCATTTTAGCCAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	348	0.0029	28	c.35+ others(43): Show c.35+7254_35+7281dupTTGGCTAAAATGAGGAAGCTAGAAAGGG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding	1/7			chr1	TogoVar
STX8_chr17_9245471_9580820	9339070	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	130	0.0077	28	c.643 others(47): Show c.643+39481_643+39482insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19090.hp1 HG03831.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0012 a0001c0004t0001g0089 a0001c0002t0001g0012 a0001c0004t0001g0089	2	25	0.0800	28	c.541 others(47): Show c.541+20797_541+20798insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0088	1	2	0.5000	28	c.323 others(45): Show c.323+9747_323+9748insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108772268	C C	CTATCTGT others(21): Show CTATCTGTATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01515.hp1 NA19087.hp2 HG01346.hp2 HG01515.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0089 a0001c0001t0002g0101 a0001c0001t0002g0061 a0001c0001t0002g0089 a0001c0001t0002g0101	3	319	0.0094	28	c.439 others(43): Show c.439-303_439-276dupCATATATAAATACATATGATATCTGTAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP4_chr17_54963765_55178632	55128287	T T	TTCTGGCA others(21): Show TTCTGGCAGATCCAGAGTCTGGGCAGGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp2 NA20300.hp2 HG02723.hp2 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112	3	376	0.0080	28	c.149 others(49): Show c.1490-13022_1490-12995dupTCTGGCAGATCCAGAGTCTGGGCA GGTA	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121105395	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03195.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0005 a0001c0001t0005 a0001c0008t0005	a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0008t0005g0268 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0008t0005g0268	3	248	0.0121	28	c.471 others(45): Show c.471-9503_471-9502insTAAATAAATAAATAAATAAATAAATAAA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147337214	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG01943.hp2 others(5): Show HG00323.hp2 HG01255.hp2 HG01943.hp2 NA18944.hp2 NA18961.hp2 NA18968.hp1 NA19004.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0013 a0001c0001 a0002c0002 a0004c0013	a0001c0001t0006 a0002c0002t0008 a0004c0013t0013 a0001c0001t0006 a0002c0002t0008 a0004c0013t0013	a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(5): Show a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0153 a0001c0001t0006g0166 a0002c0002t0008g0142 a0004c0013t0013g0185	8	198	0.0404	28	c.214 others(47): Show c.2147-1964_2147-1963insCACACACACACACACACACACACACA AA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STYXL1_chr7_75991342_76053000	75999491	T T	TTGTGTAT others(21): Show TTGTGTATGTGTGTGTGTGTGTATATGTG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	86	0.0116	28	c.810 others(45): Show c.810+1398_810+1399insCACATATACACACACACACACATACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	8/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18982.hp1 NA18998.hp2 others(1): Show HG00558.hp2 NA18982.hp1 NA18998.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0236 a0002c0002t0001g0238 others(1): Show a0002c0002t0001g0226 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0243	4	106	0.0377	28	c.131 others(45): Show c.1318-320_1318-319insTATATATATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	21	0.0476	28	c.131 others(45): Show c.1318-322_1318-321insTATATATATATATATATATATATATACA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18951.hp1 HG01071.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0200 a0001c0001t0007g0164 a0001c0001t0001g0200 a0001c0001t0007g0164	2	36	0.0556	28	c.106 others(49): Show c.1063-21650_1063-21623dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102638301	G G	GATCAATA others(21): Show GATCAATAAATATATAATAAATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	266	0.0038	28	c.81 others(39): Show c.8146_*8147insATCAATAAATATATAATAAATTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4767		chr10	TogoVar
SUGCT_chr7_40130005_40865763	40666355	A A	AAAGAAAG others(21): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	3	0.3333	28	c.109 others(49): Show c.1090-83076_1090-83075insAAAGGAAGGAAGGAAGGAAGGAAG GAAG	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGT1_chr13_52647836_52705909	52701790	T T	TACACACA others(21): Show TACACACACAAAGACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0085 a0001c0001t0050g0085	1	305	0.0033	28	c.13 others(41): Show c.13955_*13956insACACACACAAAGACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		882		chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701790	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0119 a0001c0001t0073g0119	1	305	0.0033	28	c.13 others(41): Show c.13955_*13956insACACACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		882		chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01106.hp2 others(7): Show HG00140.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01993.hp2 HG02257.hp1 HG03492.hp1 NA18941.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0074	a0001c0001t0002g0013 a0001c0001t0002g0155 a0001c0001t0004g0026 others(6): Show a0001c0001t0002g0013 a0001c0001t0002g0155 a0001c0001t0004g0026 a0001c0001t0007g0073 a0001c0001t0013g0007 a0001c0001t0030g0138 a0001c0001t0035g0024 a0001c0001t0036g0024 a0001c0001t0074g0098	10	20	0.5000	28	c.13 others(41): Show c.13967_*13968insACACACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULT2B1_chr19_48547172_48604423	48602704	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	180	0.0056	28	c.32 others(39): Show c.3298_*3299insAAAAAAAAAAAAAAAAATATATATATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3282		chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48602704	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0232 a0002c0008t0001g0232	1	180	0.0056	28	c.32 others(39): Show c.3298_*3299insAAAAAAAAAAATATATATATATATATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3282		chr19	TogoVar
SUMF1_chr3_4356146_4472269	4456741	C C	CACACATA others(21): Show CACACATATATACGTGTGTGTGTATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02257.hp1 HG02809.hp1 others(1): Show HG00544.hp1 HG02257.hp1 HG02809.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0134 a0001c0001t0005g0135 a0001c0002t0001g0246 others(1): Show a0001c0001t0001g0134 a0001c0001t0005g0135 a0001c0002t0001g0246 a0001c0002t0001g0311	4	390	0.0103	28	c.271 others(45): Show c.271-3720_271-3693dupATATATACACACACACGTATATATGTGT	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar

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