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
SP100_chr2_230411201_230550606	230497539	GAGGAGAG others(28): Show GAGGAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp2 HG02602.hp2 others(2): Show HG01071.hp1 HG01255.hp2 HG02602.hp2 HG02698.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0010 a0001c0003t0010 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0003t0010 a0001c0009t0010	a0001c0001t0002g0268 a0001c0001t0002g0284 a0001c0001t0010g0129 others(2): Show a0001c0001t0002g0268 a0001c0001t0002g0284 a0001c0001t0010g0129 a0001c0003t0010g0019 a0001c0009t0010g0063	5	290	0.0172	-35	c.164 others(52): Show c.1646-917_1646-883delGAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG01516.hp2 others(6): Show HG00140.hp1 HG01261.hp2 HG01516.hp2 HG02129.hp2 HG03225.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG03942.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0004c0006 a0004c0015 others(1): Show a0001c0003 a0004c0006 a0004c0015 a0006c0016	a0001c0003t0017 a0004c0006t0004 a0004c0015t0004 others(1): Show a0001c0003t0017 a0004c0006t0004 a0004c0015t0004 a0006c0016t0004	a0001c0003t0017g0137 a0004c0006t0004g0152 a0004c0006t0004g0179 others(6): Show a0001c0003t0017g0137 a0004c0006t0004g0152 a0004c0006t0004g0179 a0004c0006t0004g0181 a0004c0006t0004g0237 a0004c0006t0004g0278 a0004c0006t0004g0283 a0004c0015t0004g0153 a0006c0016t0004g0281	9	290	0.0310	-35	c.205 others(52): Show c.2053-627_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA7_chr13_112371355_112439689	112383163	AAGAAAGA others(28): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	391	0.0026	-35	c.94+ others(50): Show c.94+6686_94+6720delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG9_chr17_50957174_51125868	51053843	AAAAAAAA others(28): Show AAAAAAAAAAAAGTATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02809.hp2 others(2): Show HG01243.hp2 HG02451.hp2 HG02809.hp2 HG02970.hp2 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0007 a0002c0004t0005 a0002c0004t0007	a0002c0004t0005g0004 a0002c0004t0005g0005 a0002c0004t0005g0006 others(2): Show a0002c0004t0005g0004 a0002c0004t0005g0005 a0002c0004t0005g0006 a0002c0004t0005g0010 a0002c0004t0007g0009	5	292	0.0171	-35	c.495 others(52): Show c.495+2534_495+2568delATATATATATATATATATATATACTTTT TTTTTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053845	AAAAAAAA others(28): Show AAAAAAAAAAGTATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp1 HG02683.hp1 others(6): Show HG01168.hp2 HG02055.hp1 HG02683.hp1 HG02717.hp1 HG02965.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0005 a0002c0003t0007 a0002c0003t0021 others(2): Show a0002c0003t0005 a0002c0003t0007 a0002c0003t0021 a0002c0004t0005 a0002c0004t0015	a0002c0003t0005g0093 a0002c0003t0007g0076 a0002c0003t0007g0112 others(6): Show a0002c0003t0005g0093 a0002c0003t0007g0076 a0002c0003t0007g0112 a0002c0003t0007g0165 a0002c0003t0021g0066 a0002c0004t0005g0001 a0002c0004t0005g0003 a0002c0004t0005g0007 a0002c0004t0015g0008	9	292	0.0308	-35	c.495 others(52): Show c.495+2532_495+2566delATATATATATATATATATATATATACTT TTTTTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053847	AAAAAAAA others(28): Show AAAAAAAAGTATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG03579.hp2 others(1): Show HG02258.hp2 HG03041.hp2 HG03579.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0007 a0002c0004t0016 a0002c0003t0007 a0002c0004t0016	a0002c0003t0007g0095 a0002c0003t0007g0101 a0002c0003t0007g0127 others(1): Show a0002c0003t0007g0095 a0002c0003t0007g0101 a0002c0003t0007g0127 a0002c0004t0016g0002	4	292	0.0137	-35	c.495 others(52): Show c.495+2530_495+2564delATATATATATATATATATATATATATAC TTTTTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPATA31A1_chr9_39350669_39366962	39356543	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03516.hp2 others(1): Show HG02965.hp1 HG03041.hp2 HG03516.hp2 NA19067.hp2	a0003 a0012 a0022 a0003 a0012 a0022	a0003c0004 a0012c0056 a0012c0057 others(1): Show a0003c0004 a0012c0056 a0012c0057 a0022c0055	a0003c0004t0001 a0012c0056t0003 a0012c0057t0003 others(1): Show a0003c0004t0001 a0012c0056t0003 a0012c0057t0003 a0022c0055t0002	a0003c0004t0001g0038 a0012c0056t0003g0022 a0012c0057t0003g0022 others(1): Show a0003c0004t0001g0038 a0012c0056t0003g0022 a0012c0057t0003g0022 a0022c0055t0002g0039	4	424	0.0094	-35	c.190 others(50): Show c.190-558_190-524delATTTTATTTTATTTTATTTTATTTTATTTT ATTTT	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPDYA_chr2_28805834_28855610	28819842	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	338	0.0030	-35	c.294 others(50): Show c.294+738_294+772delAAAAAAATATATATATATATATATATATAT ATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819844	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	338	0.0030	-35	c.294 others(50): Show c.294+740_294+774delAAAAATATATATATATATATATATATATAT ATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819848	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp2 HG02615.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0155 a0001c0001t0001g0058 a0001c0001t0001g0155	2	338	0.0059	-35	c.294 others(50): Show c.294+744_294+778delATATATATATATATATATATATATATATAT ATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02622.hp1 NA18950.hp2 others(2): Show HG00673.hp2 HG02622.hp1 NA18950.hp2 NA18975.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0154	5	338	0.0148	-35	c.294 others(50): Show c.294+745_294+779delTATATATATATATATATATATATATATATA TATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7			chr2	TogoVar
SPECC1_chr17_20004359_20324026	20244682	ATGATCAG others(28): Show ATGATCAGTAAATAACTATTTTATTTACTGATTTAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp2 HG03654.hp1 HG01175.hp1 HG01361.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176	3	250	0.0120	-35	c.235 others(54): Show c.2352-1242_2352-1208delGATCAGTAAATAACTATTTTATTTAC TGATTTATT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228080707	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG01070.hp2 others(47): Show HG00140.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02723.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03453.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18978.hp2 NA18986.hp2 NA18992.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0015	a0001c0001 a0002c0002 a0003c0006 others(2): Show a0001c0001 a0002c0002 a0003c0006 a0004c0004 a0015c0029	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0003c0006t0001 a0004c0004t0003 a0015c0029t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(47): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0296 a0001c0001t0002g0302 a0001c0001t0008g0264 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0003c0006t0001g0075 a0003c0006t0001g0098 a0003c0006t0001g0099 a0003c0006t0001g0102 a0004c0004t0003g0052 a0004c0004t0003g0071 a0004c0004t0003g0259 a0015c0029t0002g0257	50	322	0.1553	-35	c.246 others(54): Show c.246+28090_246+28124delATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228080753	AAAATAAA others(28): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAACC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	322	0.0031	-35	c.246 others(54): Show c.246+28044_246+28078delGGTTTTATTTTATTTTATTTTATTTT ATTTTATTT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPIC_chr12_101470336_101491997	101479284	AAAAGAAA others(28): Show AAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02559.hp2 others(3): Show HG02451.hp1 HG02559.hp1 HG02559.hp2 HG03209.hp2 HG03927.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0175 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0276 a0001c0001t0002g0174	6	398	0.0151	-35	c.98- others(48): Show c.98-274_98-240delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPOCK3_chr4_166728384_167239494	167025199	ACAATTCT others(28): Show ACAATTCTTTGGCCACTGAATGCTTTTTTTTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG02683.hp1 others(2): Show HG01261.hp1 HG02257.hp1 HG02683.hp1 HG06807.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 a0003c0007t0001	a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0013g0062 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0013g0062 a0001c0003t0001g0080 a0003c0007t0001g0073	5	144	0.0347	-35	c.236 others(54): Show c.236-24771_236-24737delGAAAAAAAAAAAAGCATTCAGTGGCC AAAGAATTG	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2347403	ACGCGCTC others(28): Show ACGCGCTCTCATTCGCCTGATTCCGTTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0180 a0002c0007t0008g0180	1	414	0.0024	-35	c.135 others(54): Show c.1354+2075_1354+2109delGCGCTCTCATTCGCCTGATTCCGTTC TCTCTCTCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2347775	TCTCATTC others(28): Show TCTCATTCGCCTGATTCCGTTCTCTCTCTCCACACA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02717.hp2 HG02738.hp1 others(4): Show HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03831.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0017 a0001c0010t0006 a0001c0010t0011 a0001c0001t0017 a0001c0010t0006 a0001c0010t0011	a0001c0001t0017g0314 a0001c0001t0017g0315 a0001c0010t0006g0140 others(4): Show a0001c0001t0017g0314 a0001c0001t0017g0315 a0001c0010t0006g0140 a0001c0010t0011g0144 a0001c0010t0011g0145 a0001c0010t0011g0146 a0001c0010t0011g0147	7	414	0.0169	-35	c.135 others(54): Show c.1354+2447_1354+2481delTCATTCGCCTGATTCCGTTCTCTCTC TCCACACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRBD1_chr2_45383680_45616267	45415667	GGGAGGGG others(28): Show GGGAGGGGAGGGGAGGGGACGGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	358	0.0028	-35	c.233 others(54): Show c.2334-2409_2334-2375delTCTCCTCTCCTCTCCCGTCCCCTCCC CTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415677	GGGAGGGG others(28): Show GGGAGGGGACGGGAGAGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	358	0.0028	-35	c.233 others(54): Show c.2334-2419_2334-2385delTCTCCTCTCCTCTCCTCTCCTCTCCC GTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415713	GGAGAGGA others(28): Show GGAGAGGAGAGGAGAGGAGAGGAGACGAGAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	358	0.0028	-35	c.233 others(54): Show c.2334-2455_2334-2421delGTCTCCTCTCGTCTCCTCTCCTCTCC TCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586953	TATTTTAA others(28): Show TATTTTAAATTATAAATATTAAAATATTTAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19074.hp2 HG00558.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0139 a0001c0005t0001g0142 a0001c0005t0001g0139 a0001c0005t0001g0142	2	358	0.0056	-35	c.649 others(52): Show c.649-1214_649-1180delTAATTTTAAATATTTTAATATTTATAAT TTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38606087	TCTCGCGC others(28): Show TCTCGCGCCCTCCAGCTTCACCGCGTGATCCCGCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	261	0.0038	-35	c.-41 others(44): Show c.-417_-383delCTGCGGGATCACGCGGTGAAGCTGGAGGGCGCGAG	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding		136		chr17	TogoVar
SRGAP2_chr1_206198541_206469436	206372964	CCTTTCTT others(28): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	182	0.0055	-35	c.424 others(54): Show c.424-11049_424-11015delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22			chr1	TogoVar
SRPK2_chr7_105111374_105393921	105233089	AAAGAAGG others(28): Show AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03225.hp2 HG02055.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0001g0113 a0001c0001t0005g0114 a0001c0001t0005g0115	3	282	0.0106	-35	c.72- others(52): Show c.72-29339_72-29305delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(28): Show GCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01433.hp2 HG01884.hp2 others(39): Show HG00609.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02129.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp2 HG04184.hp1 NA18522.hp1 NA18939.hp1 NA18951.hp1 NA18952.hp2 NA18980.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0002c0010 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0007t0001 a0002c0010t0001 a0002c0016t0001	a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0002g0279 others(39): Show a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0002g0279 a0002c0002t0001g0270 a0002c0002t0001g0299 a0002c0002t0001g0317 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0003g0015 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0305 a0002c0002t0003g0307 a0002c0002t0003g0308 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0003g0318 a0002c0002t0012g0296 a0002c0007t0001g0268 a0002c0007t0001g0269 a0002c0007t0001g0272 a0002c0010t0001g0267 a0002c0010t0001g0271 a0002c0016t0001g0316	42	324	0.1296	-35	c.-39 others(54): Show c.-39-11169_-39-11135delTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SS18_chr18_26011253_26095613	26063173	AGCACAGT others(28): Show AGCACAGTGGAATTAAATTAGAAATCAGTAGGCCGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02451.hp2 others(7): Show HG01167.hp2 HG02145.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02922.hp1 HG03225.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0010 a0001c0001t0001 a0002c0003t0001 a0002c0003t0010	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0297 others(7): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0010g0098	10	318	0.0315	-35	c.232 others(52): Show c.232-5466_232-5432delCCGGCCTACTGATTTCTAATTTAATTCC ACTGTGC	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10			chr18	TogoVar
SSBP4_chr19_18414398_18439562	18419836	GCGAGATT others(28): Show GCGAGATTGGCGGGGGCGCGCGACCCCCGAGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	302	0.0033	-35	c.59+ others(48): Show c.59+145_59+179delCGCGCGACCCCCGAGGGGCACGAGATTGGCGG GGG	SSBP4	ENSG00000130511.16	transcript	ENST00000270061.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108859956	AGGAGGGG others(28): Show AGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	332	0.0030	-35	c.-24 others(46): Show c.-2495_-2461delCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCCTC C	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2374		chr12	TogoVar
SSR2_chr1_156004048_156025951	156004365	AATATATA others(28): Show AATATATATTATATATAAATAAATAATATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01258.hp2 HG02257.hp2 others(5): Show HG00544.hp1 HG01258.hp2 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp2 NA18992.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0052 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0106 a0001c0001t0001g0204 a0001c0001t0001g0205	8	356	0.0225	-35	c.51 others(46): Show c.5140_*5174delATAATATATATTATTTATTTATATATAATATATA T	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4682		chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905570	CTCCCCCT others(28): Show CTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03704.hp2 NA18983.hp2 others(3): Show HG00408.hp1 HG03704.hp2 NA18983.hp2 NA18999.hp2 NA19074.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0027 a0001c0001t0004g0041 others(3): Show a0001c0001t0004g0020 a0001c0001t0004g0027 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0004g0052	6	274	0.0219	-35	c.744 others(52): Show c.744+5844_744+5878delTCCCCCTCCTCCTGCTTCTCTTCCCGCC ACTGTTT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905606	CTCCCCCT others(28): Show CTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02602.hp1 HG00099.hp1 HG00741.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120	3	274	0.0110	-35	c.744 others(52): Show c.744+5880_744+5914delTCCCCCTCCTCCTGCTTCTCTTCCCGCC ACTGTTT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46725980	TATATATA others(28): Show TATATATATATATATATATATATATATATATCCTGG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(53): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02723.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19009.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0068 a0001c0001t0078 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0095 a0001c0001t0097 a0001c0001t0119 a0001c0002t0005	a0001c0001t0001g0031 a0001c0001t0001g0143 a0001c0001t0001g0180 others(53): Show a0001c0001t0001g0031 a0001c0001t0001g0143 a0001c0001t0001g0180 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0002g0178 a0001c0001t0002g0188 a0001c0001t0002g0218 a0001c0001t0003g0007 a0001c0001t0003g0174 a0001c0001t0003g0193 a0001c0001t0004g0309 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0005g0184 a0001c0001t0006g0058 a0001c0001t0006g0099 a0001c0001t0006g0164 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0009g0276 a0001c0001t0009g0308 a0001c0001t0009g0311 a0001c0001t0009g0314 a0001c0001t0009g0337 a0001c0001t0010g0019 a0001c0001t0010g0139 a0001c0001t0010g0189 a0001c0001t0012g0179 a0001c0001t0013g0278 a0001c0001t0016g0100 a0001c0001t0023g0307 a0001c0001t0032g0152 a0001c0001t0032g0153 a0001c0001t0034g0175 a0001c0001t0034g0176 a0001c0001t0036g0219 a0001c0001t0037g0190 a0001c0001t0037g0191 a0001c0001t0045g0316 a0001c0001t0048g0004 a0001c0001t0049g0041 a0001c0001t0050g0052 a0001c0001t0058g0249 a0001c0001t0068g0167 a0001c0001t0078g0177 a0001c0001t0087g0207 a0001c0001t0090g0098 a0001c0001t0091g0194 a0001c0001t0095g0229 a0001c0001t0097g0131 a0001c0001t0119g0310 a0001c0002t0005g0185	56	362	0.1547	-35	c.132 others(54): Show c.132-21351_132-21317delCCAGGATATATATATATATATATATA TATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17325416	ATTACTAC others(28): Show ATTACTACTACTGTAATATATATGTGATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(50): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0005c0007	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(8): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 a0002c0002t0003 a0002c0002t0006 a0002c0002t0024 a0002c0002t0025 a0003c0005t0009 a0005c0007t0003	a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0091 others(50): Show a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0164 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0194 a0001c0001t0003g0201 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0290 a0001c0001t0006g0256 a0001c0001t0006g0261 a0001c0001t0006g0272 a0001c0001t0006g0289 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0010g0060 a0001c0001t0026g0275 a0002c0002t0003g0005 a0002c0002t0003g0007 a0002c0002t0006g0011 a0002c0002t0024g0013 a0002c0002t0025g0006 a0003c0005t0009g0273 a0005c0007t0003g0128	53	296	0.1791	-35	c.635 others(52): Show c.635+1563_635+1597delAATATATAATCACATATATATTACAGTA GTAGTAA	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	6/7			chr10	TogoVar
STAB1_chr3_52490338_52529495	52510281	AGGTGGGA others(28): Show AGGTGGGATGCCCTGGCCCTCTGCCTACGTTCTTGT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0079 a0001c0020t0001g0079	1	368	0.0027	-35	c.262 others(50): Show c.2628+48_2629-32delGTGGGATGCCCTGGCCCTCTGCCTACGTTC TTGTG	STAB1	ENSG00000010327.10	transcript	ENST00000321725.10	protein_coding	24/68		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAMBP_chr2_73823961_73872168	73834219	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0051 a0001c0003t0010g0051	1	368	0.0027	-35	c.203 others(52): Show c.203+3162_203+3196delAAAAAAAAAAAAAAAAATATATATATAT ATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834231	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19089.hp1 NA19090.hp2 NA18956.hp1 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213	3	368	0.0082	-35	c.203 others(52): Show c.203+3174_203+3208delAAAAATATATATATATATATATATATAT ATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834233	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	368	0.0027	-35	c.203 others(52): Show c.203+3176_203+3210delAAATATATATATATATATATATATATAT ATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STIM2_chr4_26855841_27030381	26885134	TTGTGTTC others(28): Show TTGTGTTCCACTGTTCATGTTCAACCTTATTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18973.hp2 NA18989.hp1 others(5): Show HG00438.hp2 NA18973.hp2 NA18989.hp1 NA18999.hp1 NA19054.hp2 NA19062.hp1 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0059 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0139 a0001c0001t0005g0140 a0001c0001t0006g0062	8	336	0.0238	-35	c.151 others(54): Show c.151+23768_151+23802delTGTTCCACTGTTCATGTTCAACCTTA TTTTTCATG	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIP1_chr11_64181171_64209543	64187968	ACTCCAGC others(28): Show ACTCCAGCCTGGGCCATAGAGCGAGACTCCGTCTCC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	378	0.0027	-35	c.9+1 others(48): Show c.9+1714_9+1748delTAGAGCGAGACTCCGTCTCCCTCCAGCCTGGG CCA	STIP1	ENSG00000168439.17	transcript	ENST00000305218.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK11IP_chr2_219592857_219621451	219615412	GGGTGGGA others(28): Show GGGTGGGAAATGGGTCTAGGAACCCTGGGCATTGGT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0142 a0003c0003t0002g0142	1	342	0.0029	-35	c.311 others(51): Show c.3117+74_3117+108delTGGGAAATGGGTCTAGGAACCCTGGGCAT TGGTGG	STK11IP	ENSG00000144589.22	transcript	ENST00000456909.6	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
STK32B_chr4_5046480_5505989	5316796	ATATATTA others(28): Show ATATATTATATATATTATATATTATATCATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(67): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18944.hp2 NA18966.hp2 NA18974.hp2 NA18990.hp1 NA19009.hp1 NA19065.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0008 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0004t0002 a0002c0004t0009 a0003c0008t0006 a0005c0011t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(67): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0002g0158 a0001c0001t0003g0024 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0080 a0001c0001t0003g0091 a0001c0001t0003g0105 a0001c0001t0003g0153 a0001c0001t0004g0052 a0001c0001t0006g0046 a0001c0001t0022g0025 a0001c0001t0023g0157 a0001c0001t0024g0170 a0001c0003t0001g0018 a0001c0003t0001g0151 a0001c0003t0002g0108 a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0049 a0002c0002t0001g0059 a0002c0002t0001g0068 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0096 a0002c0002t0001g0124 a0002c0002t0001g0141 a0002c0002t0002g0048 a0002c0002t0002g0156 a0002c0002t0004g0009 a0002c0002t0004g0090 a0002c0004t0002g0128 a0002c0004t0009g0149 a0003c0008t0006g0135 a0005c0011t0001g0045	70	170	0.4118	-35	c.261 others(54): Show c.261-14418_261-14384delTATATATATTATATATTATATCATAT ATATTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8553167	AATATATA others(28): Show AATATATATATATATATATATATATATATATGGTGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0330	1	334	0.0030	-35	c.-46 others(56): Show c.-466+40881_-466+40915delACACCATATATATATATATATATA TATATATATAT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK38_chr6_36488892_36552479	36549343	CTTCTTCT others(28): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	398	0.0025	-35	c.-21 others(46): Show c.-2194_-2160delAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA A	STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding		1865		chr6	TogoVar
STK3_chr8_98449633_98830688	98825862	CGCCCCGC others(28): Show CGCCCCGCCCCCGGCCGCGCCGGCCGCCAGCCTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	170	0.0059	-35	c.-35 others(44): Show c.-357_-323delCGCAGGCTGGCGGCCGGCGCGGCCGGGGGCGGGGC	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		175		chr8	TogoVar
STK3_chr8_98449633_98830688	98829631	TACCCTAG others(28): Show TACCCTAGGATAAACAGAATGTCTGTGTTCTAATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	170	0.0059	-35	c.-41 others(46): Show c.-4126_-4092delGGATTAGAACACAGACATTCTGTTTATCCTAGGG T	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		3944		chr8	TogoVar
STON1_chr2_48525154_48603513	48564472	TCTTCTTC others(28): Show TCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	376	0.0027	-35	c.-47 others(54): Show c.-47-16114_-47-16080delCTTCTTCTTTCTTCTTCTTCTTCTTC TTCTTCTTC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3			chr2	TogoVar
STX1B_chr16_30984256_31015638	31013378	TTCTTCTT others(28): Show TTCTTCTTCTTCTTTTCTTCTTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA18941.hp1 HG00738.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0017 a0001c0001t0001 a0001c0002t0017	a0001c0001t0001g0007 a0001c0002t0017g0136 a0001c0001t0001g0007 a0001c0002t0017g0136	2	282	0.0071	-35	c.-30 others(46): Show c.-3017_-2983delGGAAGAGGAAGAAGAAGAAGAAAAGAAGAAGAAG A	STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding		2741		chr16	TogoVar
STX7_chr6_132440867_132518116	132509452	AATAACAT others(28): Show AATAACATAACATAACATAACATAACATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0087 a0001c0001t0008g0087	1	380	0.0026	-35	c.-59 others(52): Show c.-59+3520_-59+3554delGTTATGTTATGTTATGTTATGTTATGTT ATGTTAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STYXL2_chr1_167089075_167134165	167120836	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0003 a0022c0028t0003	a0022c0028t0003g0066 a0022c0028t0003g0066	1	362	0.0028	-35	c.655 others(52): Show c.655+1371_655+1405delTATATATATATATATATATATATATATA TATATAT	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	5/5			chr1	TogoVar

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