JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SASH1_chr6_148337838_148557044	148486936	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0173 a0001c0001t0009g0173	1	322	0.0031	-40	c.628 others(55): Show c.628-659_628-620delATATATATATATATATATATATATATATAT ATATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATB2_chr2_199264505_199462939	199386706	GCGCGCGC others(33): Show GCGCGCGCGCGCACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	254	0.0039	-40	c.347 others(57): Show c.347-4926_347-4887delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCGCGCG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	3/10			chr2	TogoVar
SBF2_chr11_9773668_10299219	10177722	GCTCATGG others(33): Show GCTCATGGGTAGGAAGAATCAATATTGTGAAAATGGCCATA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	224	0.0045	-40	c.141 others(59): Show c.141+16140_141+16179delTATGGCCATTTTCACAATATTGATTC TTCCTACCCATGAG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBNO2_chr19_1102638_1179268	1157809	GCTCTCTC others(33): Show GCTCTCTCCTGAGTCCGGGTAACTGCGTCCGCCTCCCAGCT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	203	0.0049	-40	c.-12 others(59): Show c.-126-3447_-126-3408delAGCTGGGAGGCGGACGCAGTTACCCG GACTCAGGAGAGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157817	CTGAGTCC others(33): Show CTGAGTCCGGGTAACTGCGTCCGCCTCCCAGCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	203	0.0049	-40	c.-12 others(59): Show c.-126-3455_-126-3416delAGAGAGAGAGCTGGGAGGCGGACGCA GTTACCCGGACTCA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAI_chr9_124937608_125148528	125108555	CCAGCCGC others(33): Show CCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(98): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp2 NA18612.hp1 NA18942.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19078.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(32): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0047 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0076 a0001c0003t0012 a0001c0003t0073 a0001c0006t0041 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0014 a0002c0002t0025 a0002c0002t0031 a0002c0002t0032 a0002c0002t0079 a0002c0002t0080 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0004t0004 a0002c0005t0039	a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 others(98): Show a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0004g0191 a0001c0001t0006g0190 a0001c0001t0006g0223 a0001c0001t0010g0211 a0001c0001t0010g0212 a0001c0001t0010g0213 a0001c0001t0010g0214 a0001c0001t0010g0215 a0001c0001t0010g0216 a0001c0001t0015g0200 a0001c0001t0015g0201 a0001c0001t0015g0203 a0001c0001t0017g0192 a0001c0001t0017g0195 a0001c0001t0017g0198 a0001c0001t0036g0139 a0001c0001t0037g0136 a0001c0001t0038g0137 a0001c0001t0040g0138 a0001c0001t0047g0202 a0001c0001t0050g0179 a0001c0001t0055g0002 a0001c0001t0056g0206 a0001c0001t0060g0207 a0001c0001t0076g0180 a0001c0003t0012g0204 a0001c0003t0012g0205 a0001c0003t0012g0208 a0001c0003t0012g0209 a0001c0003t0073g0210 a0001c0006t0041g0135 a0002c0002t0001g0001 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0006g0258 a0002c0002t0007g0225 a0002c0002t0007g0235 a0002c0002t0007g0255 a0002c0002t0007g0259 a0002c0002t0007g0263 a0002c0002t0007g0281 a0002c0002t0008g0269 a0002c0002t0008g0270 a0002c0002t0008g0275 a0002c0002t0008g0276 a0002c0002t0014g0234 a0002c0002t0014g0250 a0002c0002t0014g0257 a0002c0002t0014g0274 a0002c0002t0025g0280 a0002c0002t0031g0251 a0002c0002t0032g0247 a0002c0002t0079g0249 a0002c0002t0080g0278 a0002c0002t0082g0268 a0002c0002t0083g0224 a0002c0002t0084g0231 a0002c0002t0085g0229 a0002c0004t0004g0230 a0002c0005t0039g0219	101	306	0.3301	-40	c.98+ others(57): Show c.98+34038_98+34077delCCGGGCGGAGGGGCTCCTCACTTCTCAG ACGGGGCGGCTG	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125108649	TGAGAAGT others(33): Show TGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(37): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01255.hp2 HG02027.hp1 HG02071.hp2 HG02523.hp2 HG02698.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 others(7): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0064 a0001c0001t0065 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075	a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 others(37): Show a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0013g0134 a0001c0001t0013g0160 a0001c0001t0013g0161 a0001c0001t0013g0177 a0001c0001t0019g0151 a0001c0001t0019g0155 a0001c0001t0020g0141 a0001c0001t0020g0164 a0001c0001t0020g0167 a0001c0001t0021g0149 a0001c0001t0064g0158 a0001c0001t0065g0140 a0001c0001t0072g0154 a0001c0001t0074g0172 a0001c0001t0075g0150	40	306	0.1307	-40	c.98+ others(57): Show c.98+33944_98+33983delTGACGGGGCGGCTGCCGGGCGGAGGGGC TCCTCACTTCTC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP2_chr15_74838730_74878365	74865950	CGAAGGAA others(33): Show CGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0283 a0001c0001t0035g0283	1	386	0.0026	-40	c.57+ others(55): Show c.57+7209_57+7248delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	370	0.0027	-40	c.-47 others(51): Show c.-4727_-4688delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0031 a0003c0014t0031	a0003c0014t0031g0018 a0003c0014t0031g0018	1	314	0.0032	-40	c.63 others(51): Show c.6317_*6356delTATATATATATATATATATATATATATATATATA TATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCD5_chr4_82624539_82803796	82679243	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0200 a0001c0001t0015g0200	1	210	0.0048	-40	c.569 others(57): Show c.569+1424_569+1463delCTTCTTTCTTTCTTTCCTTCCTTCTTTC TTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159704904	CTTTATTT others(33): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0034	1	100	0.0100	-40	c.64- others(57): Show c.64-59538_64-59499delTTTATTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCCTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51644910	ACCCTCCG others(33): Show ACCCTCCGCCCGGCAGCCGCCCTGTCTGAGAAGTGAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0006 a0001c0001t0028g0006	1	202	0.0050	-40	c.-54 others(59): Show c.-54-17843_-54-17804delGGCAGCCGCCCTGTCTGAGAAGTGAG GAGCCCCTCCGCCC	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166191678	TATACACA others(33): Show TATACACACACATATATATATATGTATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA18963.hp1 NA18970.hp2 others(1): Show HG02698.hp2 NA18963.hp1 NA18970.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0068	4	296	0.0135	-40	c.69 others(51): Show c.6954_*6993delGTATATATATATATATACATATATATATATGTGT GTGTAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3506		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340540	CCCTTTCT others(33): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02895.hp1 others(4): Show HG02572.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp2 NA20129.hp1	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0014	a0001c0003 a0001c0018 a0006c0034 others(2): Show a0001c0003 a0001c0018 a0006c0034 a0011c0025 a0014c0035	a0001c0003t0006 a0001c0018t0033 a0001c0018t0034 others(3): Show a0001c0003t0006 a0001c0018t0033 a0001c0018t0034 a0006c0034t0004 a0011c0025t0001 a0014c0035t0005	a0001c0003t0006g0078 a0001c0018t0033g0291 a0001c0018t0034g0290 others(4): Show a0001c0003t0006g0078 a0001c0018t0033g0291 a0001c0018t0034g0290 a0006c0034t0004g0293 a0011c0025t0001g0080 a0011c0025t0001g0181 a0014c0035t0005g0292	7	296	0.0237	-40	c.-50 others(59): Show c.-50-28774_-50-28735delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23325533	CTGGGATT others(33): Show CTGGGATTACAGGTATGAGCCACCGTGCCCAGCCTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02257.hp1 others(11): Show HG01109.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 NA19043.hp2 NA20129.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0001c0015 a0003c0005 a0005c0016 a0006c0014	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0001c0015t0001 a0003c0005t0001 a0005c0016t0001 a0006c0014t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(11): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0003t0001g0074 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0011t0001g0013 a0001c0015t0001g0073 a0003c0005t0001g0075 a0005c0016t0001g0076 a0006c0014t0001g0081	14	306	0.0458	-40	c.-8- others(57): Show c.-8-23056_-8-23017delGGATTACAGGTATGAGCCACCGTGCCCA GCCTCTTTTTTG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288529	TCCCGTGT others(33): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	290	0.0035	-40	c.166 others(57): Show c.1662+514_1662+553delCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288567	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02074.hp2 NA19088.hp2 HG00673.hp1 HG02074.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0076 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0076	3	290	0.0103	-40	c.166 others(57): Show c.1662+534_1662+573delCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288778	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18747.hp1 NA18969.hp2 others(1): Show HG01517.hp2 NA18747.hp1 NA18969.hp2 NA19079.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0012 a0002c0002 a0009c0013 a0001c0012 a0002c0002 a0009c0013	a0001c0012t0001 a0002c0002t0001 a0009c0013t0001 a0001c0012t0001 a0002c0002t0001 a0009c0013t0001	a0001c0012t0001g0131 a0002c0002t0001g0059 a0002c0002t0001g0085 others(1): Show a0001c0012t0001g0131 a0002c0002t0001g0059 a0002c0002t0001g0085 a0009c0013t0001g0078	4	290	0.0138	-40	c.166 others(57): Show c.1662+758_1662+797delCCGTGTCCCTGTTCCGTCCCCCGAGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288908	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0082 a0002c0003t0002g0082	1	290	0.0035	-40	c.166 others(57): Show c.1662+888_1662+927delCCGTGTCCCTGTTCCGTCCCCCGAGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289033	TCCCCCGA others(33): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	290	0.0035	-40	c.166 others(59): Show c.1662+1000_1662+1039delCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289062	TCTGCTCC others(33): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	290	0.0035	-40	c.166 others(59): Show c.1662+1038_1662+1077delCCGAGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289317	TCCCGTGT others(33): Show TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	290	0.0035	-40	c.166 others(57): Show c.1663-945_1663-906delCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290096	GTCTCTGC others(33): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	290	0.0035	-40	c.166 others(57): Show c.1663-171_1663-132delCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43216975	TAACAGCT others(33): Show TAACAGCTTCCCCCCACCCCGCCAGGTGTCACCTCTTTACC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04228.hp1 HG06807.hp1 HG02015.hp2 HG04228.hp1 HG06807.hp1	a0002 a0003 a0002 a0003	a0002c0014 a0003c0001 a0002c0014 a0003c0001	a0002c0014t0078 a0003c0001t0001 a0002c0014t0078 a0003c0001t0001	a0002c0014t0078g0261 a0003c0001t0001g0177 a0003c0001t0001g0195 a0002c0014t0078g0261 a0003c0001t0001g0177 a0003c0001t0001g0195	3	280	0.0107	-40	c.189 others(59): Show c.1891+1240_1891+1279delGGTAAAGAGGTGACACCTGGCGGGGT GGGGGGAAGCTGTT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	15/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9037487	TCTCTGTG others(33): Show TCTCTGTGGCTAAGATGATGAACCTAATAAAAGGGGTCACC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0169 a0003c0003t0005g0169	1	358	0.0028	-40	c.200 others(59): Show c.2003-3731_2003-3692delGGTGACCCCTTTTATTAGGTTCATCA TCTTAGCCACAGAG	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SCYL2_chr12_100262177_100346715	100294818	GGACGGGG others(33): Show GGACGGGGTGGCTGCTGGGCGGAGACGCTCCTCATTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0180 a0001c0003t0002g0180	1	220	0.0046	-40	c.335 others(57): Show c.335+3173_336-3159delTGGGCGGAGACGCTCCTCATTTCCCAGA CGGGGTGGCTGC	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDCCAG8_chr1_243251041_243505091	243257481	AAAATAAT others(33): Show AAAATAATTATAGATTACTATGATAGAAAGTAAGGGTAAAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0128 a0005c0008t0001g0128	1	189	0.0053	-40	c.67+ others(55): Show c.67+1243_67+1282delAATAATTATAGATTACTATGATAGAAAGTA AGGGTAAAGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3806279	CTAGGATG others(33): Show CTAGGATGTGGATGTCCACATTAGGATGTGGATGTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01167.hp1 others(16): Show HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01243.hp1 HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA18522.hp2	a0001 a0002 a0009 others(7): Show a0001 a0002 a0009 a0010 a0024 a0025 a0026 a0029 a0031 a0035	a0001c0002 a0001c0017 a0001c0048 others(15): Show a0001c0002 a0001c0017 a0001c0048 a0001c0067 a0001c0095 a0002c0012 a0002c0043 a0002c0066 a0002c0090 a0009c0082 a0010c0019 a0010c0020 a0024c0094 a0025c0070 a0026c0069 a0029c0063 a0031c0074 a0035c0018	a0001c0002t0002 a0001c0017t0011 a0001c0048t0001 others(15): Show a0001c0002t0002 a0001c0017t0011 a0001c0048t0001 a0001c0067t0068 a0001c0095t0029 a0002c0012t0016 a0002c0043t0035 a0002c0066t0023 a0002c0090t0010 a0009c0082t0001 a0010c0019t0074 a0010c0020t0070 a0024c0094t0025 a0025c0070t0026 a0026c0069t0069 a0029c0063t0007 a0031c0074t0042 a0035c0018t0071	a0001c0002t0002g0095 a0001c0017t0011g0051 a0001c0017t0011g0052 others(16): Show a0001c0002t0002g0095 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0048t0001g0029 a0001c0067t0068g0001 a0001c0095t0029g0050 a0002c0012t0016g0002 a0002c0043t0035g0079 a0002c0066t0023g0089 a0002c0090t0010g0047 a0009c0082t0001g0076 a0010c0019t0074g0009 a0010c0020t0070g0008 a0024c0094t0025g0049 a0025c0070t0026g0112 a0026c0069t0069g0064 a0029c0063t0007g0106 a0031c0074t0042g0081 a0035c0018t0071g0005	19	116	0.1638	-40	c.714 others(59): Show c.714-15105_714-15066delTGTGGATGTCCACATTAGGATGTGGA TGTCCACATTAGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73412019	CGTATATG others(33): Show CGTATATGTATATATACGTATATATATGTATATACGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(80): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp2 NA18961.hp2 NA18970.hp2 NA18993.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp1	a0001 a0002 a0004 others(14): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0016 a0019 a0020 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(51): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0014 a0001c0015 a0001c0023 a0001c0024 a0001c0025 a0001c0032 a0001c0033 a0001c0041 a0001c0043 a0001c0051 a0001c0053 a0001c0067 a0001c0068 a0001c0072 a0001c0073 a0001c0082 a0001c0084 a0001c0089 a0001c0093 a0001c0109 a0002c0020 a0002c0029 a0002c0059 a0002c0079 a0002c0101 a0004c0011 a0004c0027 a0004c0040 a0004c0054 a0004c0066 a0004c0080 a0005c0065 a0006c0042 a0006c0085 a0007c0083 a0008c0069 a0010c0063 a0010c0108 a0011c0107 a0012c0077 a0012c0078 a0013c0099 a0013c0100 a0014c0034 a0016c0058 a0019c0081 a0020c0096 a0023c0091 a0025c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0025 a0001c0001t0032 a0001c0001t0068 a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0001c0004t0019 a0001c0004t0079 a0001c0004t0082 a0001c0005t0024 a0001c0005t0078 a0001c0010t0004 a0001c0010t0006 a0001c0010t0043 a0001c0014t0004 a0001c0014t0006 a0001c0014t0092 a0001c0015t0004 a0001c0023t0008 a0001c0023t0017 a0001c0024t0006 a0001c0024t0009 a0001c0025t0016 a0001c0032t0002 a0001c0033t0052 a0001c0041t0099 a0001c0043t0033 a0001c0051t0046 a0001c0053t0022 a0001c0067t0014 a0001c0068t0007 a0001c0072t0009 a0001c0073t0038 a0001c0082t0005 a0001c0084t0088 a0001c0089t0055 a0001c0093t0007 a0001c0109t0049 a0002c0020t0026 a0002c0020t0089 a0002c0029t0003 a0002c0059t0063 a0002c0079t0002 a0002c0101t0005 a0004c0011t0010 a0004c0011t0011 a0004c0011t0018 a0004c0011t0091 a0004c0027t0011 a0004c0027t0024 a0004c0040t0028 a0004c0054t0022 a0004c0066t0018 a0004c0080t0054 a0005c0065t0013 a0006c0042t0053 a0006c0085t0095 a0007c0083t0076 a0008c0069t0102 a0010c0063t0025 a0010c0108t0040 a0011c0107t0031 a0012c0077t0036 a0012c0078t0005 a0013c0099t0013 a0013c0100t0069 a0014c0034t0042 a0016c0058t0067 a0019c0081t0001 a0020c0096t0044 a0023c0091t0008 a0025c0057t0003	a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0128 others(80): Show a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0128 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0002g0027 a0001c0001t0009g0120 a0001c0001t0009g0139 a0001c0001t0015g0049 a0001c0001t0015g0072 a0001c0001t0025g0085 a0001c0001t0032g0001 a0001c0001t0068g0012 a0001c0002t0001g0137 a0001c0004t0001g0110 a0001c0004t0010g0087 a0001c0004t0019g0130 a0001c0004t0079g0140 a0001c0004t0082g0168 a0001c0005t0024g0191 a0001c0005t0078g0100 a0001c0010t0004g0164 a0001c0010t0006g0053 a0001c0010t0043g0069 a0001c0014t0004g0170 a0001c0014t0006g0113 a0001c0014t0092g0082 a0001c0015t0004g0150 a0001c0023t0008g0034 a0001c0023t0017g0189 a0001c0024t0006g0151 a0001c0024t0009g0188 a0001c0025t0016g0055 a0001c0025t0016g0180 a0001c0032t0002g0118 a0001c0033t0052g0002 a0001c0041t0099g0125 a0001c0043t0033g0003 a0001c0051t0046g0060 a0001c0053t0022g0039 a0001c0067t0014g0025 a0001c0068t0007g0117 a0001c0072t0009g0074 a0001c0073t0038g0079 a0001c0082t0005g0093 a0001c0084t0088g0015 a0001c0089t0055g0175 a0001c0093t0007g0057 a0001c0109t0049g0011 a0002c0020t0026g0107 a0002c0020t0089g0106 a0002c0029t0003g0078 a0002c0059t0063g0144 a0002c0079t0002g0200 a0002c0101t0005g0076 a0004c0011t0010g0176 a0004c0011t0011g0059 a0004c0011t0018g0187 a0004c0011t0091g0104 a0004c0027t0011g0035 a0004c0027t0024g0033 a0004c0040t0028g0127 a0004c0054t0022g0084 a0004c0066t0018g0031 a0004c0080t0054g0080 a0005c0065t0013g0066 a0006c0042t0053g0030 a0006c0085t0095g0042 a0007c0083t0076g0037 a0008c0069t0102g0116 a0010c0063t0025g0166 a0010c0108t0040g0183 a0011c0107t0031g0124 a0012c0077t0036g0190 a0012c0078t0005g0006 a0013c0099t0013g0133 a0013c0100t0069g0090 a0014c0034t0042g0159 a0016c0058t0067g0161 a0019c0081t0001g0186 a0020c0096t0044g0154 a0023c0091t0008g0182 a0025c0057t0003g0171	83	204	0.4069	-40	c.248 others(59): Show c.2484+2585_2484+2624delATATACGTATATACATATATATACGT ATATATACATATAC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73505594	ATCGTCAA others(33): Show ATCGTCAATAGCTGGACCTCATCATCATCAATAGCTGGACC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0007 a0007	a0007c0083 a0007c0083	a0007c0083t0076 a0007c0083t0076	a0007c0083t0076g0037 a0007c0083t0076g0037	1	204	0.0049	-40	c.224 others(57): Show c.224+1804_224+1843delGGTCCAGCTATTGATGATGATGAGGTCC AGCTATTGACGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454944	TTATTATA others(33): Show TTATTATATATCATATAATAGATATATAATATATTATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02886.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0013 a0004c0004t0001g0064 a0004c0004t0001g0013 a0004c0004t0001g0064	7	454	0.0154	-40	c.50 others(51): Show c.5037_*5076delTATAATAATATATTATATATCTATTATATGATAT ATAATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4284		chr22	TogoVar
SEH1L_chr18_12943011_12992531	12981145	GGGCGGCC others(33): Show GGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGAT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	388	0.0026	-40	c.762 others(57): Show c.762-1344_762-1305delCCTAGATGGGATGGCGGCCGGGCAGAGA CGCTCCTCACTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13994538	CAATTAGC others(33): Show CAATTAGCCTTGAAGATGATCTGATATATAGAAACACAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	324	0.0031	-40	c.-40 others(51): Show c.-4044_-4005delTGTTGTGTTTCTATATATCAGATCATCTTCAAGG CTAATT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		3925		chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25790632	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	312	0.0032	-40	c.195 others(55): Show c.1957-98_1957-59delCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SELENOF_chr1_86857445_86919126	86900007	ACTCCTCA others(33): Show ACTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	226	0.0044	-40	c.252 others(57): Show c.252+3234_252+3273delCGCCTCTTCCCGGCCGCCATCCCATCTA GGAAGTGAGGAG	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83390056	TGTGCACA others(33): Show TGTGCACATATATGCGCGTATACGTGTGCACATATATGCGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0091 a0002c0004t0091	a0002c0004t0091g0189 a0002c0004t0091g0189	1	226	0.0044	-40	c.166 others(59): Show c.1667+2459_1667+2498delGCGCATATATGTGCACACGTATACGC GCATATATGTGCAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9384579	GATAGATA others(33): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0101 a0001c0001t0077g0101	1	134	0.0075	-40	c.-77 others(57): Show c.-77-4596_-77-4557delGTATCTATCTATCTATCTATCTATCTAT CTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG02698.hp2 HG04115.hp2 others(1): Show HG00408.hp1 HG02698.hp2 HG04115.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0002 a0001c0001t0025g0003 a0001c0001t0025g0002 a0001c0001t0025g0003	4	446	0.0090	-40	c.38 others(49): Show c.387_*426delTATATATATATATATATATATATATATATATATATA TATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	387	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571870	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02074.hp1 others(11): Show HG01884.hp2 HG02055.hp1 HG02074.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG03209.hp1 HG06807.hp2 NA18522.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0037 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0037	14	446	0.0314	-40	c.38 others(49): Show c.389_*428delTATATATATATATATATATATATATATATATATATA TAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	389	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571872	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 NA18747.hp1 NA18973.hp1 others(1): Show HG01167.hp1 NA18747.hp1 NA18973.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0118 a0001c0001t0036 a0001c0001t0118	a0001c0001t0036g0001 a0001c0001t0118g0017 a0001c0001t0036g0001 a0001c0001t0118g0017	4	446	0.0090	-40	c.39 others(49): Show c.397_*436delTATATATATATATATATATATATATATATAAAAATA TATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	397	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN5_chr22_19709503_19728319	19726637	CGTGAGGA others(33): Show CGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-40	c.41 others(51): Show c.4154_*4193delGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTC GGGGCG	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3319		chr22	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02970.hp2 HG01175.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0162 a0001c0001t0001g0181 a0001c0001t0002g0162	2	346	0.0058	-40	c.169 others(57): Show c.169+5390_169+5429delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01106.hp1 others(9): Show HG00099.hp1 HG00642.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG02735.hp2 HG02738.hp1 HG04199.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0090 others(9): Show a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0112 a0001c0001t0003g0169 a0001c0001t0003g0214	12	346	0.0347	-40	c.169 others(57): Show c.169+5394_169+5433delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(33): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp2 NA18522.hp2 others(8): Show HG00733.hp2 HG01884.hp2 NA18522.hp2 NA18949.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18970.hp1 NA18972.hp1 NA18981.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001	a0001c0001t0002g0078 a0001c0001t0002g0116 a0001c0001t0002g0118 others(8): Show a0001c0001t0002g0078 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0003g0186 a0001c0001t0006g0054 a0001c0001t0007g0131 a0001c0001t0011g0072 a0001c0001t0013g0047 a0001c0001t0015g0051 a0001c0002t0001g0303 a0001c0002t0001g0304	11	346	0.0318	-40	c.169 others(57): Show c.169+5398_169+5437delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(33): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01257.hp1 HG01258.hp1 others(2): Show HG00673.hp2 HG01257.hp1 HG01258.hp1 HG03710.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0020g0007	5	346	0.0145	-40	c.169 others(57): Show c.169+5402_169+5441delTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838302	TTCCCTCC others(33): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	346	0.0029	-40	c.169 others(57): Show c.169+5426_169+5465delCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERGEF_chr11_17783048_18018047	17896853	TAAGGGAA others(33): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18973.hp2 NA18995.hp2 others(1): Show NA18943.hp1 NA18973.hp2 NA18995.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0184 others(1): Show a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0184 a0001c0002t0002g0201	4	226	0.0177	-40	c.101 others(61): Show c.1012-18649_1012-18610delCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERPINB1_chr6_2827332_2846863	2836639	CTTCAAAT others(33): Show CTTCAAATCGCTGAGTAGATGCCTACTCTCACAAAAAAAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(225): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG03017.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0006 a0001c0001 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0027 a0003c0005t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0006g0007 a0001c0001t0009g0074 a0001c0001t0013g0092 a0001c0001t0013g0099 a0001c0001t0014g0028 a0001c0001t0015g0029 a0001c0001t0017g0036 a0001c0001t0018g0070 a0001c0001t0019g0064 a0001c0001t0021g0053 a0001c0001t0027g0104 a0003c0005t0001g0051 a0003c0005t0001g0058 a0003c0005t0001g0071 a0004c0006t0001g0059	228	478	0.4770	-40	c.425 others(55): Show c.425-429_425-390delCCTTTTTTTGTGAGAGTAGGCATCTACTCA GCGATTTGAA	SERPINB1	ENSG00000021355.13	transcript	ENST00000380739.6	protein_coding	4/6			chr6	TogoVar
SESN1_chr6_108979309_109099846	109099072	TATTTTAG others(33): Show TATTTTAGCTTGGCCACGTTAAGTTTGAGATGCCTCTAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	184	0.0054	-40	c.-50 others(51): Show c.-5039_-5000delTCTTAGAGGCATCTCAAACTTAACGTGGCCAAGC TAAAAT	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding		4227		chr6	TogoVar

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Search Results (Total: 3176 hits)