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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNTG2_chr2_945849_1372613	983266	GGGATGAA others(41): Show GGGATGAAGCAGAGGCTCTCTTCCATAGAAGCTGCGGAGGTGGTGGTCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	190	0.0053	-48	c.72+ others(65): Show c.72+32207_72+32254delCAGAGGCTCTCTTCCATAGAAGCTGCGG AGGTGGTGGTCAGGATGAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 NA21309.hp1 HG01891.hp1 HG02258.hp1 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0009 a0004c0004 a0006c0009	a0004c0004t0001 a0006c0009t0001 a0004c0004t0001 a0006c0009t0001	a0004c0004t0001g0088 a0004c0004t0001g0089 a0006c0009t0001g0050 a0004c0004t0001g0088 a0004c0004t0001g0089 a0006c0009t0001g0050	3	190	0.0158	-48	c.72+ others(65): Show c.72+54760_72+54807delTATATATATATATATATATATATATATA TATATATATATATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125458833	AAAAAAAA others(41): Show AAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAAGT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02071.hp1 NA18961.hp2 others(3): Show HG01943.hp2 HG02071.hp1 NA18961.hp2 NA18989.hp1 NA19006.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0290 others(3): Show a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0290 a0001c0001t0002g0293 a0002c0002t0002g0003 a0002c0002t0002g0007	6	360	0.0167	-48	c.945 others(65): Show c.945-1516_945-1469delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13			chr3	TogoVar
SNX8_chr7_2246770_2319441	2303010	TGGGGGTC others(41): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCAGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0349 a0001c0002t0010g0349	1	370	0.0027	-48	c.94+ others(65): Show c.94+11270_94+11317delCCACCTCCCTCCTGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157840058	GGGGGTGT others(41): Show GGGGGTGTCTTTGGATCTCGGGAAAGAGCAGACCCTCAGGCTGGTGCTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(47): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01071.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18960.hp2 NA18964.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA19076.hp2 NA19084.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0006c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0003t0003 a0001c0011t0001 a0006c0014t0001	a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0096 others(47): Show a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0280 a0001c0001t0004g0261 a0001c0001t0006g0097 a0001c0001t0011g0259 a0001c0003t0003g0203 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0011t0001g0155 a0006c0014t0001g0148	50	302	0.1656	-48	c.12+ others(65): Show c.12+16758_12+16805delGGGTGTCTTTGGATCTCGGGAAAGAGCA GACCCTCAGGCTGGTGCTTG	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(41): Show TACACACACACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA18906.hp1 NA20805.hp1 others(1): Show HG02615.hp2 NA18906.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0035 a0001c0001 a0003c0004 a0005c0035	a0001c0001t0001 a0003c0004t0001 a0005c0035t0001 a0001c0001t0001 a0003c0004t0001 a0005c0035t0001	a0001c0001t0001g0005 a0003c0004t0001g0205 a0003c0004t0001g0207 others(1): Show a0001c0001t0001g0005 a0003c0004t0001g0205 a0003c0004t0001g0207 a0005c0035t0001g0011	4	364	0.0110	-48	c.11 others(59): Show c.1181_*1228delACACACACACACACACACACACACACACACACAC ACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95358674	ACACACAC others(41): Show ACACACACACAGACACGCACATGCACAGACATGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0034 a0002c0034t0034	a0002c0034t0034g0032 a0002c0034t0034g0032	1	300	0.0033	-48	c.195 others(65): Show c.1956-919_1956-872delCGCGCGCGCGCGCGCGCATGTCTGTGCA TGTGCGTGTCTGTGTGTGTG	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242284	GTTTATAT others(41): Show GTTTATATATATATTTATACATATATTTATATATATATTTATACATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0002	1	134	0.0075	-48	c.286 others(67): Show c.2869-3222_2869-3175delATTTATACATATATTTATATATATAT TTATACATATATTTATATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX11_chr2_5687384_5706385	5691084	GGCTGCTC others(41): Show GGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGCGGCTCCCCGGCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0000 a0001c0001t0138g0000	1	434	0.0023	-48	c.-16 others(59): Show c.-1637_-1590delGCTGCTCTGCGAGGCCCAGCGCGCCCCAGGTCGC GGCTCCCCGGCCGC	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		1299		chr2	TogoVar
SOX5_chr12_23524504_23954670	23570924	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0206 a0001c0001t0044g0206	1	212	0.0047	-48	c.134 others(67): Show c.1342+4689_1342+4736delATATATATATATATATATATATATAT ATATATATATATATATTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(41): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	218	0.0046	-48	c.778 others(67): Show c.778-20387_778-20340delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132299	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	218	0.0046	-48	c.778 others(67): Show c.778-20424_778-20377delTCTTTCTTTTTTCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(41): Show GAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18941.hp1 HG02273.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0086 a0001c0001t0023g0093 a0001c0001t0005g0086 a0001c0001t0023g0093	2	218	0.0092	-48	c.778 others(67): Show c.778-20519_778-20472delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SPAG16_chr2_213279464_214415501	213468486	TATATGTA others(41): Show TATATGTATTTATATATAGATATATATATATCTATGTATTTATATATAG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	86	0.0116	-48	c.943 others(67): Show c.943-21472_943-21425delGTATTTATATATAGATATATATATAT CTATGTATTTATATATAGATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG9_chr17_50957174_51125868	51077013	GCTAGCTA others(41): Show GCTAGCTATCTAGCTATCTATCTAGCTATCTAGCTATCTAGCTAGCTAT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03831.hp2 NA18962.hp1 others(1): Show HG00544.hp1 HG03831.hp2 NA18962.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0013 a0001c0001t0002g0072 a0001c0001t0003g0014 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0072 a0001c0001t0003g0014 a0001c0001t0003g0015	4	292	0.0137	-48	c.424 others(65): Show c.424+2523_424+2570delATAGCTAGCTAGATAGCTAGATAGCTAG ATAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077029	TCTATCTA others(41): Show TCTATCTAGCTATCTAGCTATCTAGCTAGCTATCTAGCTAGCTATCTAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0197 a0002c0003t0018g0197	1	292	0.0034	-48	c.424 others(65): Show c.424+2507_424+2554delCTAGATAGCTAGCTAGATAGCTAGCTAG ATAGCTAGATAGCTAGATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPATA22_chr17_3435019_3476819	3464731	ACCCTCCG others(41): Show ACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	420	0.0024	-48	c.173 others(65): Show c.173-2012_173-1965delGCGGAGGGGCTCCTCACTTCTCAGACGG GGCGGTTGCCGGGCGGAGGG	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8			chr17	TogoVar
SPATA48_chr7_50090883_50164256	50093983	GCAAGACA others(41): Show GCAAGACATAGATTAGAAAGAGAAAAGGTATCCTGCCCCACTCCTTTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA19077.hp1 NA18978.hp1 NA19077.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0298 a0003c0003t0001g0301 a0003c0003t0001g0298 a0003c0003t0001g0301	2	328	0.0061	-48	c.-21 others(59): Show c.-2102_-2055delCAAGACATAGATTAGAAAGAGAAAAGGTATCCTG CCCCACTCCTTTAC	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding		1899		chr7	TogoVar
SPATA6_chr1_48290373_48477204	48383087	TCCCCCCA others(41): Show TCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0103	1	322	0.0031	-48	c.909 others(65): Show c.909+2174_909+2221delTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCTGGGAGGGAGGTGGGGGG	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48383109	GGGGCGGC others(41): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	322	0.0031	-48	c.909 others(65): Show c.909+2152_909+2199delAGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384325	GGAGGGAC others(41): Show GGAGGGACAGGGACAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp2 HG02145.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0008 a0001c0001t0023	a0001c0001t0008g0235 a0001c0001t0023g0099 a0001c0001t0008g0235 a0001c0001t0023g0099	2	322	0.0062	-48	c.909 others(63): Show c.909+936_909+983delTCCCTCTCCCTCTCCCTCTCCCTGTCCCTG TCCCTGTCCCTGTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384338	CAGGGACA others(41): Show CAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18969.hp1 NA18989.hp2 others(2): Show HG03579.hp2 NA18969.hp1 NA18989.hp2 NA19004.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 others(2): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0036 a0001c0001t0038	a0001c0001t0007g0313 a0001c0001t0016g0306 a0001c0001t0018g0316 others(2): Show a0001c0001t0007g0313 a0001c0001t0016g0306 a0001c0001t0018g0316 a0001c0001t0036g0311 a0001c0001t0038g0305	5	322	0.0155	-48	c.909 others(63): Show c.909+923_909+970delCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTGTCCCTGTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPDYA_chr2_28805834_28855610	28819837	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	338	0.0030	-48	c.294 others(63): Show c.294+733_294+780delAAAAAAAAAAAATATATATATATATATATA TATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(41): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0129 a0001c0005t0013g0129	1	216	0.0046	-48	c.-15 others(59): Show c.-1501_-1454delAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGAG AGAGAGAGAGAGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(41): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0122 a0002c0004t0016g0122	1	216	0.0046	-48	c.-15 others(59): Show c.-1503_-1456delAGAGAGAGAGAGAGAGAGACAGACAGAGAGAGAG AGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	216	0.0046	-48	c.109 others(67): Show c.1098-7771_1098-7724delTATATATATATATATATATATATATA TATATATATATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK5_chr5_148058980_148142382	148141410	TGGAATTA others(41): Show TGGAATTATAAGGGAAAGACCCTAATCTAACAGGATTGGTGTCCTTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	384	0.0026	-48	c.44 others(59): Show c.4420_*4467delGGAATTATAAGGGAAAGACCCTAATCTAACAGGA TTGGTGTCCTTATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding		4029		chr5	TogoVar
SPINT4_chr20_45717347_45730830	45723796	GGAATTTT others(41): Show GGAATTTTTAAGGGCCCATAAAGACAAGTTCTCCTGCTGAGTCCTTACC	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	458	0.0022	-48	c.116 others(61): Show c.116-83_116-36delGAATTTTTAAGGGCCCATAAAGACAAGTTCTC CTGCTGAGTCCTTACC	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	1/2			chr20	TogoVar
SPON1_chr11_13957723_14273133	14160511	ATATATAT others(41): Show ATATATATATTTACATATATATATTTATATATATATTTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02970.hp2 HG00735.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0173 a0001c0002t0001g0015 a0001c0001t0002g0173 a0001c0002t0001g0015	2	224	0.0089	-48	c.825 others(67): Show c.825+24953_825+25000delTTACATATATATATTTATATATATAT TTATATATATATTTATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1176606	CACACAGT others(41): Show CACACAGTACATTCATGCAGTCATCCACACAGTACATTCATTCACTAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0022 a0002c0007t0003g0022	1	432	0.0023	-48	c.-41 others(59): Show c.-4114_-4067delATTAGTGAATGAATGTACTGTGTGGATGACTGCA TGAATGTACTGTGT	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		4024		chr4	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG02976.hp2 others(4): Show HG01891.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 NA18940.hp1 NA19081.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0078 a0001c0001t0083 a0001c0002t0076 a0003c0005t0046	a0001c0001t0002g0222 a0001c0001t0007g0086 a0001c0001t0010g0104 others(4): Show a0001c0001t0002g0222 a0001c0001t0007g0086 a0001c0001t0010g0104 a0001c0001t0078g0087 a0001c0001t0083g0217 a0001c0002t0076g0103 a0003c0005t0046g0218	7	231	0.0303	-48	c.-28 others(69): Show c.-282+25675_-282+25722delATATATATATATATATATATATAT ATATATATATATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRCIN1_chr17_38525031_38610952	38553792	AAACTTGG others(41): Show AAACTTGGTTCTAGAGTCAGACTGATCCAAGCTCCAATCCTCACTCTGC	A A	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	261	0.0038	-48	c.220 others(65): Show c.2202-985_2202-938delGCAGAGTGAGGATTGGAGCTTGGATCAG TCTGACTCTAGAACCAAGTT	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	11/18			chr17	TogoVar
SRGAP2B_chr1_144882288_145100328	145100152	TGAATGTT others(41): Show TGAATGTTAAAGTGCTCAATAAACTATAAATTACAACAGCTGAGAGCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	56	0.0179	-48	c.-55 others(59): Show c.-5520_-5473delTAGCTCTCAGCTGTTGTAATTTATAGTTTATTGA GCACTTTAACATTC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4825		chr1	TogoVar
SRPRA_chr11_126257938_126273895	126271117	CCAAGTGG others(41): Show CCAAGTGGGGATGACAGTGCAGTTGAATATGTGAGTTGGGATCAGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	396	0.0025	-48	c.-23 others(59): Show c.-2361_-2314delTCTCCTGATCCCAACTCACATATTCAACTGCACT GTCATCCCCACTTG	SRPRA	ENSG00000182934.12	transcript	ENST00000332118.11	protein_coding		2223		chr11	TogoVar
SSBP2_chr5_81407804_81756097	81432763	GGTCAGCC others(41): Show GGTCAGCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01243.hp1 others(12): Show HG00733.hp1 HG01175.hp2 HG01243.hp1 HG01981.hp2 HG02647.hp1 HG02683.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp2 HG03540.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0025 a0001c0001t0045 a0001c0001t0053 a0001c0001t0059	a0001c0001t0005g0045 a0001c0001t0006g0137 a0001c0001t0007g0204 others(12): Show a0001c0001t0005g0045 a0001c0001t0006g0137 a0001c0001t0007g0204 a0001c0001t0008g0130 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0008g0140 a0001c0001t0008g0146 a0001c0001t0019g0129 a0001c0001t0019g0133 a0001c0001t0025g0183 a0001c0001t0025g0186 a0001c0001t0045g0087 a0001c0001t0053g0202 a0001c0001t0059g0200	15	206	0.0728	-48	c.982 others(65): Show c.982-4128_982-4081delTCCCCCACCTCCCTCCCGGACGGGGCAG CTGGCCGGGCGGGGGCTGAC	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	15/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54240057	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	280	0.0036	-48	c.856 others(63): Show c.856+800_856+847delGCACACGCGCGCGCGCGCACACACACACAC ACACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133551512	CAGAAAGA others(41): Show CAGAAAGAAAGAAAGAGAAAGAAAGAGAAGGAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0012 a0001c0002t0019g0012	1	332	0.0030	-48	c.-58 others(67): Show c.-581-5634_-581-5587delTTCTTTCTTTCTTTCTTTCCTTCTCT TTCTTTCTCTTTCTTTCTTTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277542	ATATATAT others(41): Show ATATATATATATATATATATATATATACACACACACATATGTTTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	102	0.0098	-48	c.19- others(65): Show c.19-36240_19-36193delTATACACACACACATATGTTTATGTGTA TATATATATATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAG1_chr3_136331236_136757378	136723565	GTCAGCCC others(41): Show GTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	240	0.0042	-48	c.-84 others(67): Show c.-84+28582_-84+28629delTCCCCCCACCTCCCTCCTGGACGGGG CGGCTGGCCTGGCGGGGGCTGA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STARD13_chr13_33098137_33290755	33177913	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0290 a0002c0003t0003g0290	1	302	0.0033	-48	c.170 others(67): Show c.170-10339_170-10292delCCTTCCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33177929	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01167.hp1 others(11): Show HG00621.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG02040.hp2 HG02602.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0004t0002 a0001c0004t0003 others(4): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0003 a0001c0007t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0067 a0001c0004t0002g0087 a0001c0004t0002g0150 others(11): Show a0001c0001t0001g0067 a0001c0004t0002g0087 a0001c0004t0002g0150 a0001c0004t0002g0189 a0001c0004t0002g0280 a0001c0004t0003g0104 a0001c0004t0003g0214 a0001c0007t0001g0056 a0002c0003t0001g0169 a0002c0003t0001g0292 a0002c0003t0002g0129 a0002c0003t0003g0149 a0002c0003t0003g0252 a0002c0003t0003g0287	14	302	0.0464	-48	c.170 others(67): Show c.170-10355_170-10308delCCTTCCTTCCTTCCTTCCTTCCTTTC CTTCCTTCCTTCCTTCCTTCCT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STAT4_chr2_191024576_191155994	191141406	CATATACA others(41): Show CATATACATATGTATATCACATACATACATATACATATGTATATCACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(148): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0003c0007t0001 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(145): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0004 a0001c0001t0003g0071 a0001c0002t0001g0135 a0001c0003t0001g0210 a0001c0006t0001g0082 a0003c0007t0001g0034 a0004c0008t0001g0248	151	290	0.5207	-48	c.273 others(65): Show c.273+5159_273+5206delATGTGATATACATATGTATATGTATGTA TGTGATATACATATGTATAT	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	3/23			chr2	TogoVar
STATH_chr4_69990966_70007570	70002431	AATAAATT others(41): Show AATAAATTTCAAGCACATTTTTACATGTATGCTCCTTATTTTTCTCTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	410	0.0024	-48	c.27 others(57): Show c.277_*324delATAAATTTCAAGCACATTTTTACATGTATGCTCCTT ATTTTTCTCTTT	STATH	ENSG00000126549.11	transcript	ENST00000246895.9	protein_coding	6/6	1483		chr4	TogoVar
STEAP4_chr7_88265892_88311894	88266114	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0240 a0003c0003t0003g0240	1	318	0.0031	-48	c.13 others(61): Show c.13236_*13283delTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGG	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4777		chr7	TogoVar
STIM1_chr11_3850664_4098208	3895635	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	300	0.0033	-48	c.139 others(67): Show c.139+39266_139+39313delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32B_chr4_5046480_5505989	5150677	CCACTTGG others(41): Show CCACTTGGATTTCTCCTCTTGGATACTCTTGGAGTTCTCCTCTTGGATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	170	0.0059	-48	c.108 others(67): Show c.108+10719_108+10766delACTTGGATTTCTCCTCTTGGATACTC TTGGAGTTCTCCTCTTGGATAC	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132250313	AGAGAGGG others(41): Show AGAGAGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02258.hp2 others(6): Show HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02647.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 HG06807.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0003c0007 a0006c0022	a0001c0001t0001 a0001c0005t0003 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0005t0003 a0001c0011t0001 a0003c0007t0006 a0006c0022t0001	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0005t0003g0001 others(5): Show a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0005t0003g0001 a0001c0005t0003g0049 a0001c0005t0003g0294 a0001c0011t0001g0220 a0003c0007t0006g0359 a0006c0022t0001g0290	9	368	0.0245	-48	c.263 others(65): Show c.263-4406_263-4359delCTCTCTGCAGTGACCTGTCCCGTGCGCC TCACACACACCTGCCCTCTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STKLD1_chr9_133371366_133411096	133392743	ATGGATAG others(41): Show ATGGATAGGAGGGTGGGTGAGTGGATGGGTGGGTGGGCAGGTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG03471.hp1 HG02451.hp1 HG02559.hp2 HG03471.hp1	a0002 a0002	a0002c0012 a0002c0015 a0002c0012 a0002c0015	a0002c0012t0003 a0002c0015t0003 a0002c0012t0003 a0002c0015t0003	a0002c0012t0003g0290 a0002c0012t0003g0291 a0002c0015t0003g0289 a0002c0012t0003g0290 a0002c0012t0003g0291 a0002c0015t0003g0289	3	356	0.0084	-48	c.584 others(65): Show c.584-1545_584-1498delGATAGGAGGGTGGGTGAGTGGATGGGTG GGTGGGCAGGTGGGTGGGTG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
STON1_chr2_48525154_48603513	48555828	CCCCCCCA others(41): Show CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGCGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19089.hp1 HG00544.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0033 a0001c0003t0007g0157 a0001c0001t0001g0033 a0001c0003t0007g0157	2	376	0.0053	-48	c.-47 others(67): Show c.-47-24752_-47-24705delATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCGGGGCGCTGACCCCCC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308815	TATATATA others(41): Show TATATATATATGTGTGTGTGTGTATATATATATATATACACATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp2 HG02818.hp1 HG02818.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0014 a0002c0002 a0015c0014	a0002c0002t0059 a0015c0014t0061 a0002c0002t0059 a0015c0014t0061	a0002c0002t0059g0019 a0015c0014t0061g0195 a0002c0002t0059g0019 a0015c0014t0061g0195	2	264	0.0076	-48	c.742 others(67): Show c.742+15154_742+15201delGTATGTATGTGTATATATATATATAT ACACACACACACATATATATAT	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar

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