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
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG03098.hp2 HG02647.hp2 HG02723.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	392	0.0077	-23	c.-42 others(34): Show c.-4273_-4251delTATATATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4036		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383175	AAGAAAGA others(16): Show AAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 HG03195.hp2 others(1): Show HG01243.hp1 HG02970.hp2 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	4	391	0.0102	-23	c.94+ others(38): Show c.94+6698_94+6720delGAAAGAAAGAAAGAAAGAAAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213342329	GTATATAT others(16): Show GTATATATATATTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01361.hp1 others(9): Show HG00673.hp1 HG01256.hp1 HG01361.hp1 HG01516.hp1 HG02293.hp2 HG03831.hp2 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA19000.hp2 NA19086.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0040 a0002c0002t0001g0049 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0002c0002t0001g0049 a0002c0002t0001g0076 a0003c0003t0001g0026 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047	12	86	0.1395	-23	c.644 others(40): Show c.644+2069_644+2091delATTACATATATGTATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG01361.hp2 HG01891.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0068 a0004c0004t0001g0020 a0001c0001t0001g0068 a0004c0004t0001g0020	2	86	0.0233	-23	c.172 others(46): Show c.1720+111865_1720+111887delAAAAAAAAAAAAAAAAAAAAAA A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPARCL1_chr4_87468335_87534376	87506759	TATCTATA others(16): Show TATCTATATCTCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0109 a0003c0004t0003g0109	1	390	0.0026	-23	c.-11 others(40): Show c.-11-7197_-11-7175delGATAGATAGATAGAGATATAGAT	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506766	ATCTCTAT others(16): Show ATCTCTATCTATCTATCATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp2 HG03239.hp1 HG01099.hp1 HG01261.hp2 HG03239.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0003 a0003c0004t0006 a0002c0001t0001 a0003c0004t0003 a0003c0004t0006	a0002c0001t0001g0123 a0003c0004t0003g0138 a0003c0004t0006g0352 a0002c0001t0001g0123 a0003c0004t0003g0138 a0003c0004t0006g0352	3	390	0.0077	-23	c.-11 others(40): Show c.-11-7204_-11-7182delGATAGATGATAGATAGATAGAGA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506768	CTCTATCT others(16): Show CTCTATCTATCTATCATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG02055.hp1 others(11): Show HG01099.hp2 HG01516.hp2 HG02055.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02970.hp1 HG03516.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0253 a0002c0001t0001g0068 a0002c0001t0001g0069 others(11): Show a0001c0002t0001g0253 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0079 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0002g0267 a0002c0001t0002g0288 a0002c0001t0002g0308 a0002c0001t0002g0309	14	390	0.0359	-23	c.-11 others(40): Show c.-11-7206_-11-7184delTAGATAGATGATAGATAGATAGA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPAST_chr2_32058556_32162637	32083731	CTATATAT others(16): Show CTATATATATTTATATATACTATA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20905.hp2 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0025 a0001c0001t0003g0014 a0001c0001t0003g0025	2	342	0.0059	-23	c.416 others(40): Show c.416-3751_416-3729delTTATATATACTATATATATATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA16_chr3_172884357_173146235	172961062	TCTTCTTT others(16): Show TCTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG02622.hp2 HG03471.hp2	a0000 a0000	a0000c0011 a0000c0018 a0000c0011 a0000c0018	a0000c0011t0001 a0000c0018t0001 a0000c0011t0001 a0000c0018t0001	a0000c0011t0001g0010 a0000c0018t0001g0179 a0000c0011t0001g0010 a0000c0018t0001g0179	2	200	0.0100	-23	c.934 others(40): Show c.934-4261_934-4239delGAAGGAAGGAAGGAAGAAAGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217671083	ATGGGGAT others(16): Show ATGGGGATGCCCCACTTTTTTACC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	252	0.0040	-23	c.291 others(40): Show c.291+2002_291+2024delGGGGATGCCCCACTTTTTTACCT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA18_chr4_52046304_52102299	52097995	TCAGAATA others(16): Show TCAGAATAAGATTCTGTCCTGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	308	0.0033	-23	c.31 others(34): Show c.3109_*3131delCAGAATAAGATTCTGTCCTGTTC	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding		697		chr4	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18980.hp2 HG03225.hp1 NA18980.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0001 a0012c0012t0002 a0001c0001t0001 a0012c0012t0002	a0001c0001t0001g0069 a0012c0012t0002g0060 a0001c0001t0001g0069 a0012c0012t0002g0060	2	380	0.0053	-23	c.293 others(36): Show c.293+63_293+85delTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA9_chr5_95653315_95687991	95662822	AGATGCAA others(16): Show AGATGCAAATTAAAACCACAATGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01515.hp1 HG00741.hp2 HG01123.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	380	0.0079	-23	c.474 others(40): Show c.474+1108_474+1130delACATTGTGGTTTTAATTTGCATC	SPATA9	ENSG00000145757.16	transcript	ENST00000274432.13	protein_coding	4/4			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46172152	AAGAGCGT others(16): Show AAGAGCGTGAGGCGGGGGATGCAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01361.hp2 HG01981.hp1 others(15): Show HG01167.hp2 HG01361.hp2 HG01981.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA19043.hp1 NA20300.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0003 a0007c0007 a0008c0017 a0001c0003 a0007c0007 a0008c0017	a0001c0003t0005 a0001c0003t0009 a0007c0007t0014 others(1): Show a0001c0003t0005 a0001c0003t0009 a0007c0007t0014 a0008c0017t0009	a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026 others(14): Show a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0027 a0001c0003t0005g0028 a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037 a0001c0003t0009g0038 a0007c0007t0014g0054 a0007c0007t0014g0055 a0008c0017t0009g0039	18	251	0.0717	-23	c.194 others(40): Show c.194-3517_194-3495delGTGCATCCCCCGCCTCACGCTCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATS2L_chr2_200301693_200487264	200386165	GGAGCCTG others(16): Show GGAGCCTGTAGAGGCAGCCTTCCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02886.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0019 a0002c0004t0012 a0002c0004t0019	a0002c0004t0012g0145 a0002c0004t0019g0285 a0002c0004t0019g0286 a0002c0004t0012g0145 a0002c0004t0019g0285 a0002c0004t0019g0286	3	300	0.0100	-23	c.-22 others(40): Show c.-22-3034_-22-3012delGAGCCTGTAGAGGCAGCCTTCCA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819836	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	338	0.0030	-23	c.294 others(38): Show c.294+732_294+754delAAAAAAAAAAAAATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819844	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18960.hp1 NA18984.hp2 others(1): Show HG00738.hp1 NA18960.hp1 NA18984.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0248	4	338	0.0118	-23	c.294 others(38): Show c.294+740_294+762delAAAAATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819846	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01175.hp2 others(2): Show HG00280.hp2 HG01081.hp1 HG01175.hp2 HG02818.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0001g0238 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0003g0196	5	338	0.0148	-23	c.294 others(38): Show c.294+742_294+764delAAATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819848	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04204.hp1 HG03834.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0241 a0001c0001t0001g0214 a0001c0001t0001g0241	2	338	0.0059	-23	c.294 others(38): Show c.294+744_294+766delATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01175.hp1 others(6): Show HG00639.hp2 HG00735.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01981.hp1 HG03669.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0197 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240	9	338	0.0266	-23	c.294 others(38): Show c.294+745_294+767delTATATATATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7			chr2	TogoVar
SPDYC_chr11_65165233_65178374	65166379	CTTTTTCT others(16): Show CTTTTTCTTTTTCTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	442	0.0045	-23	c.-39 others(34): Show c.-3913_-3891delTTTTTCTTTTTCTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3853		chr11	TogoVar
SPDYE12_chr7_74899289_74920078	74912770	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	350	0.0029	-23	c.130 others(38): Show c.130+358_130+380delAAAAAAAAAAAAAAAAAAAAAAA	SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	2/7			chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	460	0.0022	-23	c.-26 others(34): Show c.-2653_-2631delAAAAAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0231 a0001c0001t0027g0231	1	326	0.0031	-23	c.308 others(44): Show c.3087+14490_3087+14512delTTTTTTTTTTTTTTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPEF2_chr5_35612863_35819611	35716146	TCCAAACA others(16): Show TCCAAACATTTTTGAGAATCATAA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0214 a0002c0001t0001g0214	1	268	0.0037	-23	c.291 others(42): Show c.2914+3264_2914+3286delAACATTTTTGAGAATCATAACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEG_chr2_219429843_219498629	219431567	CCTTCCTT others(16): Show CCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0002 a0002c0065t0002	a0002c0065t0002g0073 a0002c0065t0002g0073	1	304	0.0033	-23	c.-34 others(34): Show c.-3410_-3388delCTTCCTTCCTTCCTTCCTTCCTT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding		3275		chr2	TogoVar
SPG11_chr15_44557696_44668662	44634813	GTGAGGAT others(16): Show GTGAGGATCCTCCCGCCTAGGCCT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	190	0.0053	-23	c.160 others(42): Show c.1603-1199_1603-1177delAGGCCTAGGCGGGAGGATCCTCA	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44636935	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02257.hp2 HG02965.hp2 others(4): Show HG00609.hp1 HG02257.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp1 NA18967.hp2 NA20129.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 a0002c0002 a0004c0004 a0005c0005	a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001	a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 others(4): Show a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0121 a0004c0004t0001g0170 a0005c0005t0001g0148	7	190	0.0368	-23	c.160 others(42): Show c.1603-3321_1603-3299delGTTTTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPG7_chr16_89503403_89562766	89562451	TATCTGAG others(16): Show TATCTGAGATGCGGGTGATGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02970.hp2 others(2): Show HG01891.hp1 HG02615.hp2 HG02970.hp2 HG03579.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0337 a0003c0003t0002g0054 a0003c0003t0002g0055 others(2): Show a0001c0001t0002g0337 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0208	5	358	0.0140	-23	c.53 others(34): Show c.5359_*5381delATCTGAGATGCGGGTGATGGGGG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding		4686		chr16	TogoVar
SPIC_chr12_101470336_101491997	101479282	GAAAAAGA others(16): Show GAAAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0185 a0001c0003t0001g0185	1	398	0.0025	-23	c.98- others(36): Show c.98-274_98-252delAAAGAAAGAAAGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47331966	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02015.hp1 HG02056.hp1 others(2): Show HG01192.hp1 HG02015.hp1 HG02056.hp1 HG02523.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0201 a0001c0001t0001g0211	5	216	0.0232	-23	c.525 others(42): Show c.525+37957_525+37979delCTCTTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19043.hp1 NA19240.hp1 HG02683.hp2 NA19043.hp1 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0007 a0001c0001 a0010c0007	a0001c0001t0001 a0010c0007t0001 a0001c0001t0001 a0010c0007t0001	a0001c0001t0001g0165 a0001c0001t0001g0214 a0010c0007t0001g0200 a0001c0001t0001g0165 a0001c0001t0001g0214 a0010c0007t0001g0200	3	216	0.0139	-23	c.526 others(42): Show c.526-28014_526-27992delAAAAAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545096	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19079.hp1 NA19056.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0002g0056 a0001c0001t0001g0162 a0001c0001t0002g0056	2	216	0.0093	-23	c.109 others(44): Show c.1098-50712_1098-50690delCTTTCTTTCTTTCTTTCTTTCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIRE1_chr18_12441512_12663107	12483287	TATAGTTT others(16): Show TATAGTTTTCTGTTTGAATGAATA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	328	0.0031	-23	c.123 others(42): Show c.1231+2649_1231+2671delTATTCATTCAAACAGAAAACTAT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	9/16			chr18	TogoVar
SPON1_chr11_13957723_14273133	14007495	GACAGCTA others(16): Show GACAGCTAATTAGATGGTGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG02970.hp1 others(1): Show HG02717.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0018 a0001c0002t0001 a0001c0002t0009 a0001c0002t0018	a0001c0002t0001g0037 a0001c0002t0001g0158 a0001c0002t0009g0161 others(1): Show a0001c0002t0001g0037 a0001c0002t0001g0158 a0001c0002t0009g0161 a0001c0002t0018g0207	4	224	0.0179	-23	c.345 others(42): Show c.345+24549_345+24571delAATTAGATGGTGCCCACACAGCT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0169 a0001c0002t0001g0171	2	224	0.0089	-23	c.677 others(42): Show c.677-21822_677-21800delTTTTTTTTTTTTTTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1176457	ACACAGTA others(16): Show ACACAGTACATTCATTCATCCATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0022 a0002c0007t0003g0022	1	432	0.0023	-23	c.-39 others(34): Show c.-3940_-3918delAATGGATGAATGAATGTACTGTG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		3875		chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50701883	GGCTCAAG others(16): Show GGCTCAAGTGATTCTCCTGCCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG02896.hp1 others(2): Show HG01109.hp2 HG01255.hp1 HG02896.hp1 HG02970.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 others(2): Show a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0096	a0001c0001t0057g0183 a0001c0001t0058g0163 a0001c0001t0059g0170 others(2): Show a0001c0001t0057g0183 a0001c0001t0058g0163 a0001c0001t0059g0170 a0001c0001t0060g0180 a0001c0001t0096g0169	5	336	0.0149	-23	c.58 others(34): Show c.5894_*5916delTGAGGCAGGAGAATCACTTGAGC	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding		382		chr15	TogoVar
SPRED2_chr2_65305851_65437599	65386085	GACCAGCC others(16): Show GACCAGCCTGGCCAACAGGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02970.hp2 others(1): Show HG02109.hp2 HG02280.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0203 a0001c0001t0003g0253 a0001c0001t0007g0209 others(1): Show a0001c0001t0003g0203 a0001c0001t0003g0253 a0001c0001t0007g0209 a0001c0001t0007g0251	4	276	0.0145	-23	c.27- others(40): Show c.27-41212_27-41190delTTCACCCTGTTGGCCAGGCTGGT	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRR2D_chr1_153034732_153046120	153038453	TATTGTAT others(16): Show TATTGTATTATTATAATACAATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(110): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19059.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0007 a0002c0004t0001 a0002c0002t0001 a0002c0002t0007 a0002c0004t0001	a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0007g0014 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0007g0014 a0002c0004t0001g0018	113	453	0.2495	-23	c.16 others(34): Show c.1652_*1674delTAATTGTATTATAATAATACAAT	SPRR2D	ENSG00000163216.7	transcript	ENST00000360379.4	protein_coding		1278		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359048	AATAAATT others(16): Show AATAAATTATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	352	0.0028	-23	c.56 others(34): Show c.5688_*5710delATAAATTATATATATATATATAT	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4026		chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	370	0.0027	-23	c.-48 others(42): Show c.-48+10067_-48+10089delAAAAAAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTSSA_chr14_34427788_34467240	34467217	AACACACA others(16): Show AACACACACACACACACACACACA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	344	0.0029	-23	c.-50 others(34): Show c.-5033_-5011delTGTGTGTGTGTGTGTGTGTGTGT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		4978		chr14	TogoVar
SRD5A2_chr2_31517480_31585938	31583628	ACAAAAAA others(16): Show ACAAAAAAAAAGCAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02280.hp2 others(17): Show HG01496.hp1 HG01884.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(17): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0247 a0001c0001t0001g0319	20	386	0.0518	-23	c.-27 others(34): Show c.-2751_-2729delGTTTTTTTTTTGCTTTTTTTTTG	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding		2691		chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA20905.hp2 HG01261.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0075 a0001c0001t0001 a0001c0001t0075	a0001c0001t0001g0075 a0001c0001t0075g0074 a0001c0001t0001g0075 a0001c0001t0075g0074	2	384	0.0052	-23	c.-32 others(34): Show c.-3221_-3199delAAAAAAAAAAAAAAAAAAAAAAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding		3126		chr4	TogoVar
SRGAP1_chr12_63839700_64167217	63868056	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0125 a0001c0002t0060g0125	1	170	0.0059	-23	c.67+ others(40): Show c.67+23187_67+23209delTTTTTTTTTGTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883972	GCGGCGGC others(16): Show GCGGCGGCGGGGGGCGAAAAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	56	0.0179	-23	c.81 others(34): Show c.8165_*8187delTGGCTTTTCGCCCCCCGCCGCCG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3315		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0028 a0002c0002t0011g0028	1	56	0.0179	-23	c.67+ others(40): Show c.67+48162_67+48184delTTTTTTTTTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249560	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0104 a0002c0002t0012g0104	1	274	0.0037	-23	c.68- others(40): Show c.68-35241_68-35219delATATATATATATATATATATTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249562	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	274	0.0037	-23	c.68- others(40): Show c.68-35239_68-35217delATATATATATATATATATTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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