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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0144 a0001c0001t0033g0144	1	336	0.0030	-24	c.151 others(43): Show c.151+24482_151+24505delATATATATATATATATATATATAT		STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26927690	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAACTTGAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01255.hp2 others(11): Show HG00733.hp1 HG01106.hp2 HG01255.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03453.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0019 a0001c0001t0027 others(5): Show a0001c0001t0010 a0001c0001t0019 a0001c0001t0027 a0001c0002t0009 a0001c0002t0013 a0001c0002t0019 a0001c0002t0023 a0001c0002t0026	a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 others(11): Show a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0019g0150 a0001c0001t0027g0104 a0001c0002t0009g0103 a0001c0002t0009g0114 a0001c0002t0009g0115 a0001c0002t0009g0149 a0001c0002t0013g0099 a0001c0002t0019g0107 a0001c0002t0023g0155 a0001c0002t0026g0102	14	336	0.0417	-24	c.282 others(41): Show c.282+8068_282+8091delAAAAAACTTGAATAAAAAAAAAAA		STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26970197	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01934.hp2 HG01943.hp1 others(22): Show HG00423.hp2 HG01934.hp2 HG01943.hp1 HG02056.hp1 HG02083.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA19063.hp1 NA19070.hp1 NA19080.hp2 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0292 others(22): Show a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0292 a0001c0001t0002g0299 a0001c0001t0002g0315 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0261 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0063 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0074 a0001c0001t0008g0076 a0001c0001t0008g0094 a0001c0001t0008g0147 a0001c0001t0009g0283 a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0010g0327 a0001c0001t0018g0112	25	336	0.0744	-24	c.397 others(43): Show c.397+12501_397+12524delATATATATATATATATATATGTAT		STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172056983	GAAAGAAA others(17): Show GAAAGAAAGAAAGAGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	232	0.0043	-24	c.233 others(41): Show c.2337+342_2337+365delTTCCTTCTTTCTCTTTCTTTCTTT		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18						chr5	TogoVar
STK10_chr5_172037079_172193224	172076452	TGTTGTGG others(17): Show TGTTGTGGGGGCGTCCTGTGCGTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0226 a0001c0007t0002g0226	1	232	0.0043	-24	c.198 others(43): Show c.1989+5850_1989+5873delTAACGCACAGGACGCCCCCACAAC		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18						chr5	TogoVar
STK10_chr5_172037079_172193224	172089393	CATGGATG others(17): Show CATGGATGGATGGATGGATGGATGG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	232	0.0043	-24	c.168 others(41): Show c.1685+815_1685+838delCCATCCATCCATCCATCCATCCAT		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18						chr5	TogoVar
STK32A_chr5_147230026_147392855	147260166	TCTCTCTC others(17): Show TCTCTCTCTCTCTCCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02155.hp1 HG02735.hp2 others(2): Show HG02056.hp2 HG02155.hp1 HG02735.hp2 HG03710.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005	a0001c0002t0001g0111 a0001c0002t0002g0100 a0001c0002t0004g0117 others(2): Show a0001c0002t0001g0111 a0001c0002t0002g0100 a0001c0002t0004g0117 a0001c0002t0005g0114 a0001c0002t0005g0115	5	316	0.0158	-24	c.53- others(41): Show c.53-17946_53-17923delTCCTCTCTCTCTCCTCTCTCTCTC		STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32A_chr5_147230026_147392855	147314503	AAAACAAA others(17): Show AAAACAAAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01243.hp1 others(25): Show HG00558.hp1 HG00597.hp2 HG01243.hp1 HG02055.hp1 HG02165.hp1 HG02486.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp1 HG03453.hp2 HG03516.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18989.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19030.hp2 NA19060.hp1 NA19066.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0030 a0001c0002t0001 a0001c0002t0007 a0001c0002t0017 a0001c0002t0026	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0153 others(25): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0153 a0001c0001t0001g0215 a0001c0001t0002g0047 a0001c0001t0002g0071 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0006g0039 a0001c0001t0012g0212 a0001c0001t0030g0213 a0001c0002t0001g0108 a0001c0002t0001g0120 a0001c0002t0001g0133 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0240 a0001c0002t0001g0246 a0001c0002t0001g0255 a0001c0002t0001g0262 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0007g0173 a0001c0002t0017g0138 a0001c0002t0026g0110	28	316	0.0886	-24	c.261 others(41): Show c.261-9391_261-9368delCAAAAAAAAACAAAAAAAAACAAA		STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32B_chr4_5046480_5505989	5159706	AATATATA others(17): Show AATATATATATGAATGTATATGAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	170	0.0059	-24	c.109 others(41): Show c.109-8584_109-8561delATGAATGTATATGAATATATATAT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5249441	ACCTTCCT others(17): Show ACCTTCCTTCCTTCCTTCCTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(21): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03516.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0002c0004 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0005t0008 a0001c0006t0001 a0002c0002t0001 a0002c0004t0009 a0005c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0042 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0002g0008 a0001c0001t0002g0106 a0001c0001t0003g0062 a0001c0001t0005g0168 a0001c0001t0008g0069 a0001c0001t0010g0004 a0001c0001t0017g0029 a0001c0005t0008g0015 a0001c0006t0001g0085 a0001c0006t0001g0155 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0086 a0002c0004t0009g0149 a0005c0011t0001g0045	24	170	0.1412	-24	c.260 others(43): Show c.260+81031_260+81054delTCCTTCCTTCCTTCCTTCCTTCCT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5257223	GTGAGTGA others(17): Show GTGAGTGAATGAATGAGTGAATGAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01884.hp1 others(35): Show HG00438.hp1 HG01106.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02083.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18612.hp2 NA18952.hp2 NA18971.hp2 NA18988.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19081.hp2 NA19084.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004 a0002c0007 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0003t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0004t0016 a0002c0004t0019 a0002c0007t0010 a0004c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0032 others(35): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0002 a0001c0001t0002g0070 a0001c0001t0002g0126 a0001c0001t0002g0152 a0001c0001t0003g0053 a0001c0001t0003g0093 a0001c0001t0003g0119 a0001c0001t0005g0077 a0001c0001t0005g0133 a0001c0001t0005g0164 a0001c0001t0006g0006 a0001c0001t0006g0046 a0001c0001t0017g0029 a0001c0001t0018g0144 a0001c0001t0020g0123 a0001c0003t0001g0018 a0001c0003t0001g0061 a0001c0003t0001g0112 a0001c0009t0001g0154 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0003g0117 a0002c0002t0004g0092 a0002c0002t0004g0111 a0002c0002t0004g0116 a0002c0004t0016g0121 a0002c0004t0019g0073 a0002c0007t0010g0003 a0004c0010t0004g0118	38	170	0.2235	-24	c.261 others(43): Show c.261-73972_261-73949delTGAGTGAATGAATGAGTGAATGAT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132227609	CGATGATG others(17): Show CGATGATGGTGGTGATGGTGATGGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18939.hp1 NA18969.hp1 HG00609.hp1 NA18939.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0001g0079 a0001c0001t0001g0232 a0001c0001t0001g0268	3	368	0.0082	-24	c.470 others(39): Show c.470+344_470+367delACCATCACCATCACCACCATCATC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	3/11						chr10	TogoVar
STK38_chr6_36488892_36552479	36549357	TCTTCTTC others(17): Show TCTTCTTCTTCTTCTTCTTCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02615.hp2 HG02818.hp2 others(3): Show HG00741.hp1 HG02615.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014	a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 others(3): Show a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0312 a0001c0001t0011g0365 a0001c0001t0014g0014	6	398	0.0151	-24	c.-21 others(35): Show c.-2197_-2174delGAGAAGAAGAAGAAGAAGAAGAAG		STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding					1879		chr6	TogoVar
STK38_chr6_36488892_36552479	36549363	TCTTCTTC others(17): Show TCTTCTTCTTCTTCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02622.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0179 a0001c0001t0002g0180	2	398	0.0050	-24	c.-22 others(35): Show c.-2203_-2180delGAGAAGGAGAAGAAGAAGAAGAAG		STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding					1885		chr6	TogoVar
STK39_chr2_167949022_168252595	168246640	TGGCGGCT others(17): Show TGGCGGCTGTCAGGAAGAGAGGCCA	T T	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	270	0.0037	-24	c.208 others(39): Show c.208+564_208+587delTGGCCTCTCTTCCTGACAGCCGCC		STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17						chr2	TogoVar
STKLD1_chr9_133371366_133411096	133393366	GGATGGAT others(17): Show GGATGGATAGATGGGTAGGTGAGTA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	356	0.0028	-24	c.584 others(39): Show c.584-917_584-894delAGATGGGTAGGTGAGTAGATGGAT		STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
STMN3_chr20_63634712_63658424	63647957	TATGTATA others(17): Show TATGTATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	388	0.0026	-24	c.20- others(39): Show c.20-3672_20-3649delGTATATATATATATATATATACAT		STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	1/4						chr20	TogoVar
STON1_chr2_48525154_48603513	48561251	GGCTCCAC others(17): Show GGCTCCACTAGTCCAAGGGCCAGAT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	376	0.0027	-24	c.-47 others(43): Show c.-47-19333_-47-19310delTCCACTAGTCCAAGGGCCAGATGC		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564468	TTCTTCTT others(17): Show TTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0337 a0001c0001t0015g0337	1	376	0.0027	-24	c.-47 others(43): Show c.-47-16117_-47-16094delCTTCTTCTTCTTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564471	TTCTTCTT others(17): Show TTCTTCTTCTTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA21309.hp2 NA19240.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0013 a0001c0001 a0012c0013	a0001c0001t0004 a0012c0013t0028 a0001c0001t0004 a0012c0013t0028	a0001c0001t0004g0307 a0012c0013t0028g0376 a0001c0001t0004g0307 a0012c0013t0028g0376	2	376	0.0053	-24	c.-47 others(43): Show c.-47-16114_-47-16091delCTTCTTCTTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564474	TTCTTCTT others(17): Show TTCTTCTTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	376	0.0027	-24	c.-47 others(43): Show c.-47-16111_-47-16088delCTTCTTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564477	TTCTTTCT others(17): Show TTCTTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02071.hp1 NA19089.hp1 others(1): Show HG01433.hp2 HG02071.hp1 NA19089.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0291 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0001g0291 a0001c0001t0010g0264	4	376	0.0106	-24	c.-47 others(43): Show c.-47-16108_-47-16085delCTTTCTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564480	TTTCTTCT others(17): Show TTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	376	0.0027	-24	c.-47 others(43): Show c.-47-16042_-47-16019delTCTTCTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564551	TCTTCTTC others(17): Show TCTTCTTCTTCTTCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	376	0.0027	-24	c.-47 others(43): Show c.-47-16030_-47-16007delTCTTCTTCTTCTCCTTCTCCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308802	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01123.hp1 others(1): Show HG00140.hp1 HG00639.hp1 HG01123.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0134 others(1): Show a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0134 a0003c0003t0001g0250	4	264	0.0152	-24	c.742 others(43): Show c.742+15191_742+15214delCATATATATATATATATATATATA		STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7						chr14	TogoVar
STPG2_chr4_97553872_98148476	97616047	AATACATA others(17): Show AATACATATAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0096 a0003c0004t0001g0096	1	266	0.0038	-24	c.132 others(45): Show c.1321-56954_1321-56931delATATATATATATATTTATATGTAT		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10						chr4	TogoVar
STPG2_chr4_97553872_98148476	97991362	GGTGTATA others(17): Show GGTGTATATATATATGTATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0068 a0002c0003t0002g0068	1	266	0.0038	-24	c.613 others(43): Show c.613-10068_613-10045delATATATATACATATATATATACAC		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10						chr4	TogoVar
STPG2_chr4_97553872_98148476	98082433	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(29): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01928.hp1 HG01952.hp1 HG02040.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03453.hp2 HG03579.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA19009.hp1 NA19079.hp1 NA21309.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0011	a0002c0003 a0002c0009 a0004c0005 others(2): Show a0002c0003 a0002c0009 a0004c0005 a0005c0008 a0011c0014	a0002c0003t0002 a0002c0009t0002 a0004c0005t0002 others(2): Show a0002c0003t0002 a0002c0009t0002 a0004c0005t0002 a0005c0008t0002 a0011c0014t0002	a0002c0003t0002g0004 a0002c0003t0002g0021 a0002c0003t0002g0034 others(29): Show a0002c0003t0002g0004 a0002c0003t0002g0021 a0002c0003t0002g0034 a0002c0003t0002g0037 a0002c0003t0002g0039 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0086 a0002c0009t0002g0017 a0004c0005t0002g0019 a0004c0005t0002g0043 a0004c0005t0002g0044 a0004c0005t0002g0048 a0004c0005t0002g0058 a0004c0005t0002g0063 a0004c0005t0002g0065 a0004c0005t0002g0067 a0004c0005t0002g0082 a0004c0005t0002g0087 a0005c0008t0002g0015 a0011c0014t0002g0088	32	266	0.1203	-24	c.612 others(43): Show c.612+23496_612+23519delAAAAAAAAAAAAAAAAAAAAAAAA		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10						chr4	TogoVar
STRIP1_chr1_110029624_110059641	110038071	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	406	0.0025	-24	c.250 others(39): Show c.250+130_250+153delATATATATATATATATATATATAT		STRIP1	ENSG00000143093.15	transcript	ENST00000369795.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
STRIT1_chr3_155285227_155298683	155298076	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	444	0.0023	-24	c.-44 others(35): Show c.-4468_-4445delTTTTCTTTCTTTCTTTCTTTCTTT		STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding					4394		chr3	TogoVar
STRN3_chr14_30888804_31031379	30893127	ATTACAAA others(17): Show ATTACAAACGGCAAAAACCACAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01074.hp2 others(21): Show HG00642.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG02145.hp2 HG02523.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0006 a0001c0004t0007 others(2): Show a0001c0004t0002 a0001c0004t0006 a0001c0004t0007 a0001c0004t0028 a0001c0004t0046	a0001c0004t0002g0077 a0001c0004t0006g0066 a0001c0004t0006g0067 others(21): Show a0001c0004t0002g0077 a0001c0004t0006g0066 a0001c0004t0006g0067 a0001c0004t0006g0068 a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0071 a0001c0004t0006g0072 a0001c0004t0006g0073 a0001c0004t0006g0078 a0001c0004t0006g0079 a0001c0004t0006g0081 a0001c0004t0006g0082 a0001c0004t0006g0085 a0001c0004t0006g0086 a0001c0004t0006g0089 a0001c0004t0006g0090 a0001c0004t0007g0065 a0001c0004t0007g0074 a0001c0004t0007g0080 a0001c0004t0007g0084 a0001c0004t0007g0211 a0001c0004t0028g0076 a0001c0004t0046g0088	24	364	0.0659	-24	c.22 others(35): Show c.2260_*2283delAATTGTGGTTTTTGCCGTTTGTAA		STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding					676		chr14	TogoVar
STRN3_chr14_30888804_31031379	30895274	ACCAATTT others(17): Show ACCAATTTGTGCCTGCCCCAGATAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0046 a0001c0004t0046	a0001c0004t0046g0088 a0001c0004t0046g0088	1	364	0.0028	-24	c.11 others(33): Show c.113_*136delCTATCTGGGGCAGGCACAAATTGG		STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	18/18				113		chr14	TogoVar
STRN3_chr14_30888804_31031379	31013863	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0305 a0001c0001t0031g0306 a0001c0001t0030g0305 a0001c0001t0031g0306	2	364	0.0055	-24	c.282 others(43): Show c.282+12017_282+12040delTAATAATAATAATAATAATAATAA		STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17						chr14	TogoVar
STRN_chr2_36832698_36971536	36846387	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 NA18986.hp2 HG00639.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0116 a0002c0002t0062 a0001c0001t0116 a0002c0002t0062	a0001c0001t0116g0272 a0002c0002t0062g0227 a0001c0001t0116g0272 a0002c0002t0062g0227	2	302	0.0066	-24	c.30 others(35): Show c.3045_*3068delTATATATATATATATATATATATA		STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18				3045		chr2	TogoVar
STS_chrX_7142712_7359641	7240493	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02559.hp1 others(12): Show HG01243.hp1 HG02055.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0026 a0001c0008t0005	a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0002g0104 others(12): Show a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0005g0138 a0001c0001t0010g0100 a0001c0001t0010g0145 a0001c0001t0026g0143 a0001c0008t0005g0134	15	231	0.0649	-24	c.-4- others(41): Show c.-4-12685_-4-12662delGTGTGTGTGTGTGTGTGTGTGTGT		STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
STT3B_chr3_31527925_31642616	31545631	TTAGTTTC others(17): Show TTAGTTTCCCCCTTAGCACTAGGCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(122): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18997.hp2 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0006t0001 a0001c0009t0001 a0002c0005t0004	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(115): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0004g0004 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0006g0115 a0001c0001t0006g0140 a0001c0001t0007g0161 a0001c0006t0001g0089 a0001c0006t0001g0116 a0001c0009t0001g0172 a0002c0005t0004g0091 a0002c0005t0004g0092	125	342	0.3655	-24	c.314 others(43): Show c.314+12320_314+12343delTAGTTTCCCCCTTAGCACTAGGCA		STT3B	ENSG00000163527.10	transcript	ENST00000295770.4	protein_coding	1/15						chr3	TogoVar
STUM_chr1_226543764_226614230	226548932	ACGGCGGC others(17): Show ACGGCGGCGGCGGCGGCGGCGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0036 a0003c0002t0036	a0003c0002t0036g0209 a0003c0002t0036g0209	1	402	0.0025	-24	c.38_ others(29): Show c.38_61delCGGCGGCGGCGGTGGCGGCGGCGG	p.Ala others(11): Show p.Ala13_Ala20del	STUM	ENSG00000203685.11	transcript	ENST00000366788.8	protein_coding	1/4	179/7757	38/426	13/141		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX11_chr6_144145517_144196939	144155940	ATCTTTCT others(17): Show ATCTTTCTTTCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02809.hp1 HG03669.hp1 others(6): Show HG01952.hp2 HG02809.hp1 HG03669.hp1 HG03927.hp1 NA18949.hp2 NA18972.hp1 NA18973.hp1 NA19002.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0200 a0001c0001t0002g0125 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0200 a0001c0001t0002g0125 a0001c0001t0002g0198 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0199	9	378	0.0238	-24	c.-6+ others(39): Show c.-6+5289_-6+5312delTTCTTTCTTTCTTTCTTTCTTTCT		STX11	ENSG00000135604.11	transcript	ENST00000367568.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
STX18_chr4_4413968_4547048	4487054	TTCAGAGG others(17): Show TTCAGAGGCTTTTGGTTCATGGAGC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	246	0.0041	-24	c.169 others(43): Show c.169-15372_169-15349delGCTCCATGAACCAAAAGCCTCTGA		STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10						chr4	TogoVar
STX18_chr4_4413968_4547048	4513135	ACACAGGA others(17): Show ACACAGGAAATCCTTCCCTGGTTGT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	246	0.0041	-24	c.168 others(43): Show c.168+28638_168+28661delACAACCAGGGAAGGATTTCCTGTG		STX18	ENSG00000168818.10	transcript	ENST00000306200.7	protein_coding	1/10						chr4	TogoVar
STX1B_chr16_30984256_31015638	30989405	TAGAAATG others(17): Show TAGAAATGGGACTCTGAGGGCTAAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(128): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19063.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0002t0001 a0001c0002t0005 a0001c0002t0017 a0001c0002t0018 a0001c0002t0041 a0001c0003t0046	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0137 a0001c0001t0005g0159 a0001c0001t0005g0162 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0007g0033 a0001c0001t0007g0123 a0001c0001t0007g0131 a0001c0001t0007g0134 a0001c0001t0007g0142 a0001c0001t0007g0171 a0001c0001t0008g0020 a0001c0001t0008g0027 a0001c0001t0008g0039 a0001c0001t0008g0093 a0001c0001t0011g0135 a0001c0001t0011g0160 a0001c0001t0011g0165 a0001c0001t0011g0168 a0001c0001t0011g0172 a0001c0001t0017g0139 a0001c0001t0017g0158 a0001c0001t0020g0069 a0001c0001t0020g0076 a0001c0001t0023g0141 a0001c0001t0023g0145 a0001c0001t0024g0157 a0001c0001t0024g0170 a0001c0001t0042g0166 a0001c0001t0043g0167 a0001c0001t0048g0176 a0001c0001t0049g0169 a0001c0001t0051g0126 a0001c0001t0053g0140 a0001c0001t0055g0133 a0001c0002t0001g0114 a0001c0002t0005g0163 a0001c0002t0017g0136 a0001c0002t0018g0061 a0001c0002t0018g0062 a0001c0002t0041g0164 a0001c0003t0046g0117	131	282	0.4645	-24	c.33 others(35): Show c.3392_*3415delGTTAGCCCTCAGAGTCCCATTTCT		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding	10/10				3392		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013305	TTCTTCTT others(17): Show TTCTTCTTCTTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0006 a0001c0001t0030	a0001c0001t0006g0005 a0001c0001t0030g0042 a0001c0001t0006g0005 a0001c0001t0030g0042	2	282	0.0071	-24	c.-29 others(35): Show c.-2933_-2910delGGAAGAGGAAGAAGAAGAAGAAGA		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2668		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013334	CCTCTTCC others(17): Show CCTCTTCCTCTTCCTCTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	282	0.0036	-24	c.-29 others(35): Show c.-2962_-2939delAAGAAAGAAGAGGAAGAGGAAGAG		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2697		chr16	TogoVar
STX2_chr12_130784600_130844250	130843017	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0026 a0001c0004t0015g0026	1	380	0.0026	-24	c.-39 others(35): Show c.-3942_-3919delTCTTTCTTTCTTTCTTCCTTCCTT		STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding					3768		chr12	TogoVar
STX2_chr12_130784600_130844250	130843021	GAAGGAAG others(17): Show GAAGGAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG03471.hp2 NA18906.hp1 HG01167.hp1 HG03471.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0013 a0003c0003 a0003c0013	a0003c0003t0003 a0003c0003t0011 a0003c0013t0001 a0003c0003t0003 a0003c0003t0011 a0003c0013t0001	a0003c0003t0003g0052 a0003c0003t0011g0054 a0003c0013t0001g0057 a0003c0003t0003g0052 a0003c0003t0011g0054 a0003c0013t0001g0057	3	380	0.0079	-24	c.-39 others(35): Show c.-3946_-3923delTCTTTCTTTCTTTCTTTCTTCCTT		STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding					3772		chr12	TogoVar
STX2_chr12_130784600_130844250	130843025	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02273.hp2 others(3): Show HG01433.hp2 HG02258.hp1 HG02273.hp2 NA18964.hp1 NA18991.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0213 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0025g0114	6	380	0.0158	-24	c.-39 others(35): Show c.-3950_-3927delTCTTTCTTTCTTTCTTTCTTTCTT		STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding					3776		chr12	TogoVar
STX6_chr1_180967725_181027870	181023086	CCTCTCTC others(17): Show CCTCTCTCTCCTCTCTCTCCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA20129.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0211 a0001c0002t0012g0091 a0001c0002t0002g0211 a0001c0002t0012g0091	2	350	0.0057	-24	c.-43 others(33): Show c.-437_-414delAGAGAGGAGAGAGAGGAGAGAGAG		STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding					217		chr1	TogoVar
STX7_chr6_132440867_132518116	132517035	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01070.hp1 others(24): Show HG00438.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01192.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02683.hp1 HG03834.hp2 NA18747.hp2 NA18944.hp1 NA18952.hp1 NA18956.hp1 NA18959.hp1 NA18974.hp2 NA18988.hp1 NA18994.hp2 NA18998.hp2 NA19003.hp2 NA19007.hp1 NA19057.hp1 NA19090.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0046 a0001c0001t0047 a0001c0001t0083 a0001c0002t0002 a0001c0002t0046	a0001c0001t0002g0136 a0001c0001t0002g0169 a0001c0001t0002g0170 others(22): Show a0001c0001t0002g0136 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0187 a0001c0001t0005g0010 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0017g0107 a0001c0001t0024g0156 a0001c0001t0024g0158 a0001c0001t0024g0193 a0001c0001t0024g0194 a0001c0001t0029g0251 a0001c0001t0033g0281 a0001c0001t0046g0167 a0001c0001t0047g0132 a0001c0001t0083g0262 a0001c0002t0002g0013 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0173 a0001c0002t0046g0174	27	380	0.0711	-24	c.-41 others(35): Show c.-4111_-4088delATATATATATATATATATATATAT		STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding					3920		chr6	TogoVar
STX8_chr17_9245471_9580820	9255533	AATAAATA others(17): Show AATAAATAAATAAATAAATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG03195.hp1 others(2): Show HG02615.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0126 a0001c0002t0002g0036 a0001c0002t0002g0063 others(2): Show a0001c0001t0001g0126 a0001c0002t0002g0036 a0001c0002t0002g0063 a0001c0003t0001g0017 a0001c0003t0002g0005	5	188	0.0266	-24	c.644 others(41): Show c.644-4912_644-4889delATATTTATTTATTTATTTATTTAT		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7						chr17	TogoVar
STX8_chr17_9245471_9580820	9376414	AGACCAAT others(17): Show AGACCAATCAGCACTCTGTAAAATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02258.hp2 others(6): Show HG01243.hp1 HG02055.hp2 HG02258.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0008t0002	a0001c0002t0002g0062 a0001c0003t0001g0001 a0001c0003t0001g0046 others(6): Show a0001c0002t0002g0062 a0001c0003t0001g0001 a0001c0003t0001g0046 a0001c0003t0001g0050 a0001c0003t0001g0071 a0001c0003t0002g0005 a0001c0004t0001g0095 a0001c0004t0001g0143 a0001c0008t0002g0187	9	188	0.0479	-24	c.643 others(41): Show c.643+2114_643+2137delCATTTTACAGAGTGCTGATTGGTC		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7						chr17	TogoVar

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