Joint Open Genome and Omics Platform (JoGo)

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
STAT5A_chr17_42283498_42316943	42298375	GGTCTCGA others(21): Show GGTCTCGAACTCTTGACCTCAAGTGATCT	G G	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	358	0.0028	-28	c.551 others(45): Show c.551-1374_551-1347delTCTCGAACTCTTGACCTCAAGTGATCTG	STAT5A	ENSG00000126561.18	transcript	ENST00000590949.6	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262958	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	260	0.0039	-28	c.-11 others(47): Show c.-11+13262_-11+13289delTATATATATATATATACACACACACA CA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262964	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(24): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG03490.hp2 HG04204.hp2 NA18612.hp2 NA18939.hp1 NA18962.hp1 NA18968.hp2 NA18975.hp1 NA18982.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19063.hp2 NA19067.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 a0001c0007t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 others(24): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0004g0172 a0001c0001t0026g0180 a0001c0007t0001g0166	27	260	0.1039	-28	c.-11 others(47): Show c.-11+13256_-11+13283delTATATATATATATATATATATACACA CA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262966	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	260	0.0039	-28	c.-11 others(47): Show c.-11+13254_-11+13281delTATATATATATATATATATATATACA CA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262989	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG04199.hp1 NA18957.hp1 others(4): Show HG02723.hp2 HG04199.hp1 NA18957.hp1 NA18977.hp2 NA19066.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0001 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 others(4): Show a0001c0001t0001g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0020g0248	7	260	0.0269	-28	c.-11 others(47): Show c.-11+13231_-11+13258delTTATATATATATATATATATATATAT AT	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT6_chr12_57090408_57116362	57100680	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0057 a0001c0001t0015g0057	1	368	0.0027	-28	c.151 others(45): Show c.1513-618_1513-591delTTCTTTCTCTTTCTTTCTTTCTTTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100684	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG01257.hp1 others(5): Show HG00558.hp2 HG01074.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01891.hp1 HG04204.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014	a0001c0001t0005g0008 a0001c0001t0005g0294 a0001c0001t0009g0233 others(3): Show a0001c0001t0005g0008 a0001c0001t0005g0294 a0001c0001t0009g0233 a0001c0001t0010g0276 a0001c0001t0013g0046 a0001c0001t0014g0296	8	368	0.0217	-28	c.151 others(45): Show c.1513-622_1513-595delTTCTTTCTTTCTCTTTCTTTCTTTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100688	GAAAGAAA others(21): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp2 HG01516.hp2 others(10): Show HG01175.hp1 HG01257.hp2 HG01516.hp2 HG01952.hp2 HG02109.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18993.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023	a0001c0001t0002g0012 a0001c0001t0002g0053 a0001c0001t0002g0054 others(9): Show a0001c0001t0002g0012 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0004g0237 a0001c0001t0006g0227 a0001c0001t0006g0235 a0001c0001t0013g0045 a0001c0001t0013g0062 a0001c0001t0014g0298 a0001c0001t0023g0121	13	368	0.0353	-28	c.151 others(45): Show c.1513-626_1513-599delTTCTTTCTTTCTTTCTCTTTCTTTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100692	GAAAGAAA others(21): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG02976.hp2 others(1): Show HG01081.hp2 HG02257.hp1 HG02976.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0012 a0001c0001t0002 a0001c0001t0004 a0001c0003t0012	a0001c0001t0002g0067 a0001c0001t0004g0228 a0001c0001t0004g0264 others(1): Show a0001c0001t0002g0067 a0001c0001t0004g0228 a0001c0001t0004g0264 a0001c0003t0012g0126	4	368	0.0109	-28	c.151 others(45): Show c.1513-630_1513-603delTTCTTTCTTTCTTTCTTTCTCTTTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57100696	GAAAGAGA others(21): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG01978.hp1 others(4): Show HG01884.hp2 HG01934.hp1 HG01978.hp1 HG04228.hp1 NA18612.hp2 NA18944.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019	a0001c0001t0003g0163 a0001c0001t0003g0179 a0001c0001t0010g0037 others(3): Show a0001c0001t0003g0163 a0001c0001t0003g0179 a0001c0001t0010g0037 a0001c0001t0010g0289 a0001c0001t0019g0271 a0001c0001t0019g0273	7	368	0.0190	-28	c.151 others(45): Show c.1513-634_1513-607delTTCTTTCTTTCTTTCTTTCTTTCTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STAT6_chr12_57090408_57116362	57102965	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02735.hp2 HG02976.hp1 others(3): Show HG02572.hp2 HG02735.hp2 HG02976.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0153 a0001c0001t0001g0246 a0001c0001t0001g0248 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0004g0247 a0001c0001t0005g0300	6	368	0.0163	-28	c.121 others(43): Show c.1213-72_1213-45delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	11/21			chr12	TogoVar
STAU1_chr20_49108339_49193334	49108516	ACACACAC others(21): Show ACACACACACACACACACACCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19085.hp2 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0229 a0001c0001t0001g0231	2	366	0.0055	-28	c.63 others(39): Show c.6334_*6361delGGGGGGGGGGTGTGTGTGTGTGTGTGTG	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4822		chr20	TogoVar
STC2_chr5_173309723_173333414	173329286	ATTTTCTC others(21): Show ATTTTCTCAAAGCGCTGCTCGCCACCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	448	0.0022	-28	c.-11 others(39): Show c.-1121_-1094delCGGGGTGGCGAGCAGCGCTTTGAGAAAA	STC2	ENSG00000113739.11	transcript	ENST00000265087.9	protein_coding		873		chr5	TogoVar
STIM1_chr11_3850664_4098208	3895655	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	300	0.0033	-28	c.139 others(47): Show c.139+39266_139+39293delCTTCCTTCCTTCTTTCTTTCTTTCTT TC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895675	CTTCCTTC others(21): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG02683.hp1 others(9): Show HG00280.hp2 HG01884.hp1 HG02683.hp1 NA18939.hp2 NA18945.hp2 NA18952.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA19010.hp1 NA19064.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0186 a0001c0001t0001g0188 others(9): Show a0001c0001t0001g0120 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0002g0105 a0001c0001t0013g0138 a0001c0001t0013g0139 a0001c0001t0013g0148 a0001c0002t0001g0117 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0200	12	300	0.0400	-28	c.139 others(47): Show c.139+39270_139+39297delCTTCCTTCTTTCTTTCTTTCTTTCTT TC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895712	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	300	0.0033	-28	c.139 others(47): Show c.139+39305_139+39332delCTTTCTTTCTTTCTTTCTTTCTTTTT CT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM2_chr4_26855841_27030381	26883287	TGGTATAT others(21): Show TGGTATATTATTTGCTAACTCAGAATCTC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	336	0.0030	-28	c.151 others(47): Show c.151+21919_151+21946delGGTATATTATTTGCTAACTCAGAATC TC	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11			chr4	TogoVar
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02027.hp2 others(11): Show HG01243.hp1 HG01243.hp2 HG02027.hp2 HG02071.hp2 HG02145.hp2 HG02155.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp1 NA18970.hp1 NA18999.hp2 NA19064.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0003g0156 others(11): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0003g0156 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0194 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0230 a0001c0001t0005g0015 a0001c0001t0007g0091 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0012g0223	14	336	0.0417	-28	c.151 others(47): Show c.151+24478_151+24505delATATATATATATATATATATATATAT AT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26970219	ATATGTAT others(21): Show ATATGTATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03098.hp2 others(2): Show HG02647.hp2 HG02723.hp1 HG03098.hp2 HG03195.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0009g0216 others(2): Show a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0009g0216 a0001c0001t0009g0279 a0001c0001t0012g0280	5	336	0.0149	-28	c.397 others(47): Show c.397+12501_397+12528delATATATATATATATATATATGTATGT AT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172089393	CATGGATG others(21): Show CATGGATGGATGGATGGATGGATGGATGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0009 a0001c0010t0007 a0001c0008t0009 a0001c0010t0007	a0001c0008t0009g0231 a0001c0010t0007g0050 a0001c0008t0009g0231 a0001c0010t0007g0050	2	232	0.0086	-28	c.168 others(45): Show c.1685+811_1685+838delCCATCCATCCATCCATCCATCCATCCAT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK32B_chr4_5046480_5505989	5163538	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18952.hp1 NA18971.hp1 others(2): Show HG01928.hp2 NA18952.hp1 NA18971.hp1 NA18974.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0099 a0001c0001t0003g0100 a0001c0003t0003g0036 others(2): Show a0001c0001t0001g0099 a0001c0001t0003g0100 a0001c0003t0003g0036 a0002c0002t0001g0066 a0002c0002t0004g0104	5	170	0.0294	-28	c.109 others(45): Show c.109-4745_109-4718delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5249437	ACCTACCT others(21): Show ACCTACCTTCCTTCCTTCCTTCCTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	170	0.0059	-28	c.260 others(47): Show c.260+80991_260+81018delACCTTCCTTCCTTCCTTCCTTCCTTC CT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316138	TATATATA others(21): Show TATATATATAACTAAATATATATAACTAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	170	0.0059	-28	c.261 others(47): Show c.261-15072_261-15045delACTAAATATATATAACTAAATATATA TA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132205923	CAGGGCAG others(21): Show CAGGGCAGCCAACATCCAGGGCGGGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	368	0.0027	-28	c.20 others(39): Show c.2059_*2086delCTGCCCCGCCCTGGATGTTGGCTGCCCT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding		1568		chr10	TogoVar
STK32C_chr10_132202492_132312950	132205948	GCAGAGGG others(21): Show GCAGAGGGCAGCCAACATCCAGGGCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03209.hp2 NA18969.hp2 HG02886.hp2 HG03209.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0007 a0001c0001t0001 a0001c0012t0007	a0001c0001t0001g0271 a0001c0001t0001g0337 a0001c0012t0007g0005 a0001c0001t0001g0271 a0001c0001t0001g0337 a0001c0012t0007g0005	3	368	0.0082	-28	c.20 others(39): Show c.2034_*2061delTCCCGCCCTGGATGTTGGCTGCCCTCTG	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding		1543		chr10	TogoVar
STK32C_chr10_132202492_132312950	132205955	GCAGCCAA others(21): Show GCAGCCAACATCCAGGGCGGGACAGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02615.hp2 others(5): Show HG01109.hp1 HG01891.hp2 HG02615.hp2 HG02717.hp1 HG03139.hp2 HG03579.hp1 HG03654.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0011t0011	a0001c0001t0001g0044 a0001c0001t0001g0274 a0001c0001t0002g0285 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0274 a0001c0001t0002g0285 a0001c0001t0002g0354 a0001c0001t0005g0102 a0001c0001t0005g0160 a0001c0001t0005g0350 a0001c0011t0011g0357	8	368	0.0217	-28	c.20 others(39): Show c.2027_*2054delGCCTCTGTCCCGCCCTGGATGTTGGCTG	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding		1536		chr10	TogoVar
STK32C_chr10_132202492_132312950	132253517	GAGGGAGC others(21): Show GAGGGAGCCGGAGGGAGCTGGAGGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp2 NA19043.hp2 HG02717.hp1 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0005 a0001c0002t0003 a0001c0011t0011 a0001c0001t0005 a0001c0002t0003 a0001c0011t0011	a0001c0001t0005g0350 a0001c0002t0003g0356 a0001c0011t0011g0357 a0001c0001t0005g0350 a0001c0002t0003g0356 a0001c0011t0011g0357	3	368	0.0082	-28	c.263 others(45): Show c.263-7590_263-7563delGACTCCCTCCAGCTCCCTCCGGCTCCCT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK39_chr2_167949022_168252595	167977279	AATGGGAA others(21): Show AATGGGAAGTGTCCAATAATCATTATGTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19060.hp2 HG02015.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0249 a0001c0001t0003g0040 a0001c0001t0001g0249 a0001c0001t0003g0040	2	270	0.0074	-28	c.149 others(49): Show c.1499-12581_1499-12554delAACATAATGATTATTGGACACTTC CCAT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	16/17			chr2	TogoVar
STKLD1_chr9_133371366_133411096	133390194	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	356	0.0028	-28	c.468 others(43): Show c.468-456_468-429delACACACACACACACACACACACACACAC	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
STKLD1_chr9_133371366_133411096	133392627	ATGGATGG others(21): Show ATGGATGGATGGATAGGTGGGTGGGTGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0007 a0002c0031t0007	a0002c0031t0007g0260 a0002c0031t0007g0260	1	356	0.0028	-28	c.584 others(45): Show c.584-1656_584-1629delATGGATAGGTGGGTGGGTGAGTGGATGG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
STMN3_chr20_63634712_63658424	63641931	CCCGCCCC others(21): Show CCCGCCCCGGCCCCTGCCCGCTCCGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0286 a0001c0001t0012g0286	1	388	0.0026	-28	c.483 others(43): Show c.483+149_483+176delAGCTCGGAGCGGGCAGGGGCCGGGGCGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STON1_chr2_48525154_48603513	48564452	CTTCTTCT others(21): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	376	0.0027	-28	c.-47 others(47): Show c.-47-16105_-47-16078delTCTTCTTCTTCTTCTTCTTCTTCTTC TT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308825	TGTGTGTG others(21): Show TGTGTGTGTGTGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp2 HG02602.hp1 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0254 a0003c0003t0001g0255	2	264	0.0076	-28	c.742 others(47): Show c.742+15164_742+15191delGTATATATATATATATACACACACAC AC	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STPG4_chr2_47081991_47160308	47084942	GGGGAGAC others(21): Show GGGGAGACCATGAGGCCTGAGAGAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA20300.hp2 HG02080.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0341 a0004c0004t0001g0009 a0001c0001t0001g0341 a0004c0004t0001g0009	2	352	0.0057	-28	c.20 others(39): Show c.2038_*2065delTCCTCTCTCTCAGGCCTCATGGTCTCCC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2048		chr2	TogoVar
STRN_chr2_36832698_36971536	36845887	ACACACAC others(21): Show ACACACACACACACACACACGCATGCATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG02647.hp2 HG03490.hp1 others(2): Show HG01175.hp1 HG02647.hp2 HG03490.hp1 NA18969.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0124 a0001c0001t0139 others(2): Show a0001c0001t0113 a0001c0001t0124 a0001c0001t0139 a0001c0001t0163 a0001c0001t0178	a0001c0001t0113g0146 a0001c0001t0124g0260 a0001c0001t0139g0270 others(2): Show a0001c0001t0113g0146 a0001c0001t0124g0260 a0001c0001t0139g0270 a0001c0001t0163g0013 a0001c0001t0178g0060	5	302	0.0166	-28	c.35 others(39): Show c.3541_*3568delCATGCATGCGTGTGTGTGTGTGTGTGTG	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18	3541		chr2	TogoVar
STS_chrX_7142712_7359641	7204481	CTCCCTCC others(21): Show CTCCCTCCCTTCCTTCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0097 a0002c0002t0027g0097	1	231	0.0043	-28	c.-5+ others(45): Show c.-5+13475_-5+13502delCCCTCCCTTCCTTCCTCCCTCCCTCCTT	STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
STS_chrX_7142712_7359641	7204495	TCCTCCCT others(21): Show TCCTCCCTCCCTCCTTTCCTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18975.hp1 NA19081.hp1 HG00621.hp1 NA18975.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0011g0026 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0011g0026	3	231	0.0130	-28	c.-5+ others(45): Show c.-5+13501_-5+13528delTTTCCTCCCTTCCTCCCTCCCTCCCTCC	STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
STX11_chr6_144145517_144196939	144155940	ATCTTTCT others(21): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20905.hp1 HG01175.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0080 a0001c0001t0057g0151 a0001c0001t0001g0080 a0001c0001t0057g0151	2	378	0.0053	-28	c.-6+ others(43): Show c.-6+5285_-6+5312delTTCTTTCTTTCTTTCTTTCTTTCTTTCT	STX11	ENSG00000135604.11	transcript	ENST00000367568.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
STX1B_chr16_30984256_31015638	31013325	CTTCCTCT others(21): Show CTTCCTCTTCCTCTTCCTCTTCCTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01243.hp2 others(7): Show HG00639.hp1 HG01074.hp2 HG01243.hp2 HG02273.hp2 NA18946.hp2 NA18963.hp1 NA18968.hp1 NA18981.hp2 NA18983.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0149 a0001c0001t0007g0131 a0001c0001t0011g0135	10	282	0.0355	-28	c.-29 others(39): Show c.-2957_-2930delAGAAGAGGAAGAGGAAGAGGAAGAGGAA	STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding		2688		chr16	TogoVar
STX2_chr12_130784600_130844250	130843021	GAAGGAAG others(21): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG00639.hp2 HG02257.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0004 a0003c0003t0001 a0001c0004t0004 a0003c0003t0001	a0001c0004t0004g0029 a0003c0003t0001g0058 a0001c0004t0004g0029 a0003c0003t0001g0058	2	380	0.0053	-28	c.-39 others(39): Show c.-3950_-3923delTCTTTCTTTCTTTCTTTCTTTCTTCCTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3772		chr12	TogoVar
STX2_chr12_130784600_130844250	130843025	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA19007.hp1 NA19063.hp1 NA18974.hp1 NA19007.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0177 a0001c0001t0001g0009 a0001c0001t0001g0177	3	380	0.0079	-28	c.-39 others(39): Show c.-3954_-3927delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3776		chr12	TogoVar
STX7_chr6_132440867_132518116	132517035	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01168.hp1 HG01169.hp2 others(37): Show HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp2 HG01496.hp2 HG01943.hp1 HG02027.hp1 HG02080.hp1 HG02280.hp2 HG02630.hp2 HG02717.hp1 HG02976.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03927.hp1 NA18522.hp1 NA18906.hp1 NA18947.hp1 NA18953.hp1 NA18955.hp2 NA18967.hp1 NA18972.hp2 NA18978.hp2 NA18999.hp1 NA19002.hp1 NA19006.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0074 a0001c0001t0081 a0001c0001t0084 a0001c0001t0107 a0001c0001t0110 a0001c0001t0115 a0001c0003t0007	a0001c0001t0001g0001 a0001c0001t0001g0284 a0001c0001t0001g0285 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0004g0339 a0001c0001t0004g0344 a0001c0001t0005g0032 a0001c0001t0006g0026 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0307 a0001c0001t0006g0320 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0335 a0001c0001t0007g0273 a0001c0001t0008g0324 a0001c0001t0012g0059 a0001c0001t0014g0041 a0001c0001t0015g0039 a0001c0001t0016g0045 a0001c0001t0022g0117 a0001c0001t0027g0140 a0001c0001t0037g0334 a0001c0001t0055g0295 a0001c0001t0059g0343 a0001c0001t0060g0327 a0001c0001t0061g0342 a0001c0001t0065g0331 a0001c0001t0066g0328 a0001c0001t0074g0038 a0001c0001t0081g0341 a0001c0001t0084g0325 a0001c0001t0107g0125 a0001c0001t0110g0195 a0001c0001t0115g0040 a0001c0003t0007g0329	40	380	0.1053	-28	c.-41 others(39): Show c.-4115_-4088delATATATATATATATATATATATATATAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding		3920		chr6	TogoVar
STX8_chr17_9245471_9580820	9255529	AATAAATA others(21): Show AATAAATAAATAAATAAATAAATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp1 others(30): Show HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02683.hp2 HG02735.hp1 HG02970.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 NA18906.hp2 NA18966.hp1 NA18982.hp1 NA18986.hp1 NA19004.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0008t0001	a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0114 others(30): Show a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0177 a0001c0001t0002g0074 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0002t0001g0011 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0002g0003 a0001c0002t0002g0022 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0003t0002g0027 a0001c0004t0001g0080 a0001c0004t0001g0084 a0001c0004t0002g0088 a0001c0004t0002g0145 a0001c0005t0001g0182 a0001c0008t0001g0183	33	188	0.1755	-28	c.644 others(45): Show c.644-4912_644-4885delATATTTATTTATTTATTTATTTATTTAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9556768	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0180 a0001c0004t0002g0180	1	188	0.0053	-28	c.212 others(43): Show c.212+638_212+665delGTATATATATATATATATATATATATAT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STXBP1_chr9_127607277_127697699	127624053	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02970.hp2 HG03209.hp2 HG01433.hp2 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0203 a0001c0001t0001g0264 a0001c0001t0012g0273 a0001c0001t0001g0203 a0001c0001t0001g0264 a0001c0001t0012g0273	3	300	0.0100	-28	c.37+ others(45): Show c.37+11634_37+11661delATATATATATATATATATATATATATAT	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP3_chr1_108741674_108814523	108772268	CTATCTGT others(21): Show CTATCTGTATCATATATAAATACATATGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp1 others(9): Show HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0021 others(8): Show a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0155 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0123	12	334	0.0359	-28	c.439 others(43): Show c.439-303_439-276delCATATATAAATACATATGATATCTGTAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(21): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	350	0.0029	-28	c.308 others(47): Show c.3082-1324_3082-1297delCTTTTTTTTTTTTTTTTTTTTTTTTT TT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27			chr6	TogoVar
STXBP6_chr14_24804454_25055147	24918452	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 NA18522.hp1 HG03098.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0089 a0001c0001t0094 a0001c0001t0006 a0001c0001t0089 a0001c0001t0094	a0001c0001t0006g0008 a0001c0001t0089g0175 a0001c0001t0094g0180 a0001c0001t0006g0008 a0001c0001t0089g0175 a0001c0001t0094g0180	3	242	0.0124	-28	c.154 others(47): Show c.154+56185_154+56212delTGTGTGTGTGTGTGTGTGTGTGTGTG TG	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STYK1_chr12_10613923_10679052	10630032	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02486.hp1 HG02615.hp1 others(9): Show HG02155.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02965.hp1 HG04199.hp1 NA18966.hp1 NA19001.hp2 NA19055.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0029	a0001c0001t0001g0241 a0001c0001t0002g0339 a0001c0001t0003g0157 others(9): Show a0001c0001t0001g0241 a0001c0001t0002g0339 a0001c0001t0003g0157 a0001c0001t0004g0071 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0009g0102 a0001c0001t0014g0175 a0001c0001t0029g0215	12	368	0.0326	-28	c.452 others(43): Show c.452-386_452-359delTCTCTCTCTCTCTCTCTCTCTCTCTCTC	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	5/10			chr12	TogoVar
STYXL1_chr7_75991342_76053000	76016417	GTATACAC others(21): Show GTATACACATATATACATATATACGCATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0027 a0001c0002t0004g0027	1	356	0.0028	-28	c.308 others(45): Show c.308-2558_308-2531delTATGCGTATATATGTATATATGTGTATA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar

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