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
SCTR_chr2_119434843_119529483	119444904	TACATATA others(15): Show TACATATATTCGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01123.hp2 others(22): Show HG00099.hp1 HG00323.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02132.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp2 HG02895.hp1 HG03098.hp1 HG03486.hp2 HG03579.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18971.hp2 NA18984.hp1 NA18998.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0008c0013 a0010c0011 a0001c0001 a0008c0013 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0008c0013t0002 a0010c0011t0002	a0001c0001t0001g0167 a0001c0001t0002g0103 a0001c0001t0002g0112 others(22): Show a0001c0001t0001g0167 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0126 a0001c0001t0002g0171 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0262 a0001c0001t0002g0274 a0001c0001t0002g0279 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0006g0286 a0008c0013t0002g0223 a0010c0011t0002g0216	25	290	0.0862	-22	c.114 others(41): Show c.1140+1833_1140+1854delGTATATTCGTACGAATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	628903	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-22	c.-17 others(33): Show c.-1782_-1761delGAAAGAAAGAAAGAAAGAAAGA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1723		chr11	TogoVar
SCT_chr11_621309_632181	628933	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp2 others(58): Show HG00280.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01516.hp1 HG01884.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 NA18906.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18992.hp1 NA18999.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	61	411	0.1484	-22	c.-18 others(33): Show c.-1812_-1791delAAGAAAGAAAGAAAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1753		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43281433	CCTTGGCC others(15): Show CCTTGGCCACCCTCCTGTCATCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02559.hp2 others(5): Show HG02486.hp2 HG02559.hp1 HG02559.hp2 HG03669.hp2 HG06807.hp1 NA18944.hp1 NA18983.hp1 NA18995.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0004 a0002c0002 a0002c0014 others(2): Show a0001c0004 a0002c0002 a0002c0014 a0003c0001 a0009c0056	a0001c0004t0004 a0002c0002t0002 a0002c0002t0013 others(5): Show a0001c0004t0004 a0002c0002t0002 a0002c0002t0013 a0002c0002t0031 a0002c0002t0056 a0002c0014t0078 a0003c0001t0001 a0009c0056t0084	a0001c0004t0004g0233 a0002c0002t0002g0190 a0002c0002t0013g0062 others(5): Show a0001c0004t0004g0233 a0002c0002t0002g0190 a0002c0002t0013g0062 a0002c0002t0031g0007 a0002c0002t0056g0159 a0002c0014t0078g0261 a0003c0001t0001g0155 a0009c0056t0084g0262	8	280	0.0286	-22	c.484 others(39): Show c.484+9591_484+9612delAGATGACAGGAGGGTGGCCAAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9045602	GACAGACA others(15): Show GACAGACAGACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0012 a0006c0006t0006g0012	1	358	0.0028	-22	c.200 others(41): Show c.2002+1732_2002+1753delGTGTGTGTGTGTGTCTGTCTGT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9045606	GACAGACA others(15): Show GACAGACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG03098.hp2 others(4): Show HG02109.hp2 HG02630.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp1 NA20129.hp2 NA20300.hp1	a0002 a0003 a0025 a0002 a0003 a0025	a0002c0002 a0003c0003 a0025c0019 a0002c0002 a0003c0003 a0025c0019	a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0009 a0025c0019t0009	a0002c0002t0001g0005 a0002c0002t0001g0098 a0003c0003t0001g0190 others(4): Show a0002c0002t0001g0005 a0002c0002t0001g0098 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0004g0163 a0003c0003t0009g0192 a0025c0019t0009g0095	7	358	0.0196	-22	c.200 others(41): Show c.2002+1728_2002+1749delGTGTGTGTGTGTGTGTGTCTGT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9058595	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01943.hp1 HG02109.hp1 others(2): Show HG01884.hp2 HG01943.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0001 a0003c0003t0015 a0003c0003t0021 others(1): Show a0003c0003t0001 a0003c0003t0015 a0003c0003t0021 a0008c0008t0006	a0003c0003t0001g0179 a0003c0003t0015g0137 a0003c0003t0015g0138 others(2): Show a0003c0003t0001g0179 a0003c0003t0015g0137 a0003c0003t0015g0138 a0003c0003t0021g0180 a0008c0008t0006g0177	5	358	0.0140	-22	c.109 others(39): Show c.1090+686_1090+707delTTTTTTTTTTTTTTTTTTTTTT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	9/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35217231	GGGGGGCG others(15): Show GGGGGGCGGGGGGGAGGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	290	0.0035	-22	c.85+ others(37): Show c.85+2734_85+2755delCGGGGGGGAGGCGCGGCGGGGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCYGR1_chr2_227382683_227392949	227387215	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02976.hp2 NA20905.hp2 HG01168.hp1 HG02976.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0000 a0001c0003t0000 a0002c0002t0000 a0001c0001t0000 a0001c0003t0000 a0002c0002t0000	a0001c0001t0000g0000 a0001c0003t0000g0000 a0002c0002t0000g0000 a0001c0001t0000g0000 a0001c0003t0000g0000 a0002c0002t0000g0000	3	454	0.0066	-22	c.44 others(31): Show c.446_*467delTATATAGAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		467		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387217	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01106.hp2 others(16): Show HG00140.hp1 HG00544.hp2 HG01106.hp2 HG01123.hp2 HG01934.hp1 HG02027.hp1 HG02132.hp2 HG02258.hp1 HG03130.hp2 NA18951.hp1 NA18961.hp2 NA18977.hp2 NA18993.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0000 a0001c0003t0000 a0001c0001t0000 a0001c0003t0000	a0001c0001t0000g0000 a0001c0003t0000g0000 a0001c0001t0000g0000 a0001c0003t0000g0000	19	454	0.0419	-22	c.44 others(31): Show c.444_*465delTATATATAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		465		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387219	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp1 others(28): Show HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG02280.hp1 HG03239.hp2 HG03704.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18962.hp1 NA18972.hp2 NA18982.hp2 NA19005.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19074.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000	31	454	0.0683	-22	c.44 others(31): Show c.442_*463delTATATATATAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		463		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387221	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01257.hp1 others(21): Show HG00280.hp1 HG00738.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01978.hp2 HG02300.hp1 HG02738.hp2 HG03516.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18951.hp2 NA18997.hp2 NA19004.hp1 NA19054.hp1 NA19066.hp2 NA19072.hp2 NA19087.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0000 a0002c0002t0000 a0010c0009t0000 a0001c0001t0000 a0002c0002t0000 a0010c0009t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0010c0009t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000 a0010c0009t0000g0000	24	454	0.0529	-22	c.44 others(31): Show c.440_*461delTATATATATATAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		461		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387223	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01192.hp1 HG01192.hp2 others(9): Show HG00673.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp1 HG02155.hp1 HG02683.hp1 HG03927.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18953.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	12	454	0.0264	-22	c.43 others(31): Show c.438_*459delTATATATATATATAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		459		chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243353490	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	189	0.0053	-22	c.147 others(41): Show c.1473+9171_1473+9192delAAAAAAAAAAAAAAAAAAAAAA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243372928	ATATCTAT others(15): Show ATATCTATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	189	0.0053	-22	c.147 others(41): Show c.1474-5783_1474-5762delCTATATCTATATCTATCTATAT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243433541	GTCTCTCC others(15): Show GTCTCTCCTGAGGAACCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG03471.hp2 HG01109.hp2 HG01891.hp2 HG03471.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0059 a0006c0006t0001g0067 a0001c0001t0001g0030 a0001c0001t0001g0059 a0006c0006t0001g0067	3	189	0.0159	-22	c.198 others(41): Show c.1985+6984_1985+7005delTCTCTCCTGAGGAACCAGCCTC	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17			chr1	TogoVar
SDHC_chr1_161309381_161368206	161354663	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	330	0.0030	-22	c.242 others(39): Show c.242-1988_242-1967delGTGTGTGTGTGTGTGTGTGTGT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3403824	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0080 a0005c0080	a0005c0080t0014 a0005c0080t0014	a0005c0080t0014g0078 a0005c0080t0014g0078	1	116	0.0086	-22	c.298 others(43): Show c.298+101964_298+101985delTATATATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3466979	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0088 a0002c0090 a0004c0058 a0001c0088 a0002c0090 a0004c0058	a0001c0088t0009 a0002c0090t0010 a0004c0058t0012 a0001c0088t0009 a0002c0090t0010 a0004c0058t0012	a0001c0088t0009g0048 a0002c0090t0010g0047 a0004c0058t0012g0063 a0001c0088t0009g0048 a0002c0090t0010g0047 a0004c0058t0012g0063	3	116	0.0259	-22	c.299 others(43): Show c.299-152071_299-152050delCACACACACACACACACACACA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01516.hp2 others(2): Show HG00639.hp1 HG01109.hp1 HG01516.hp2 HG01978.hp1 HG02451.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0022	a0001c0010 a0003c0001 a0006c0006 others(1): Show a0001c0010 a0003c0001 a0006c0006 a0022c0050	a0001c0010t0002 a0003c0001t0003 a0003c0001t0059 others(2): Show a0001c0010t0002 a0003c0001t0003 a0003c0001t0059 a0006c0006t0012 a0022c0050t0019	a0001c0010t0002g0085 a0003c0001t0003g0037 a0003c0001t0059g0024 others(2): Show a0001c0010t0002g0085 a0003c0001t0003g0037 a0003c0001t0059g0024 a0006c0006t0012g0115 a0022c0050t0019g0092	5	116	0.0431	-22	c.713 others(41): Show c.713+13378_713+13399delATATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655483	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 NA20752.hp2 HG00408.hp1 HG00558.hp1 NA20752.hp2	a0005 a0007 a0005 a0007	a0005c0003 a0007c0016 a0005c0003 a0007c0016	a0005c0003t0003 a0007c0016t0001 a0005c0003t0003 a0007c0016t0001	a0005c0003t0003g0069 a0005c0003t0003g0071 a0007c0016t0001g0114 a0005c0003t0003g0069 a0005c0003t0003g0071 a0007c0016t0001g0114	3	116	0.0259	-22	c.713 others(41): Show c.713+13382_713+13403delATATATATATATATATATGTAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3705451	ATTTTATT others(15): Show ATTTTATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0062 a0019c0051t0062	a0019c0051t0062g0019 a0019c0051t0062g0019	1	116	0.0086	-22	c.713 others(41): Show c.713+63349_713+63370delTTATTTTATTTTATTTTATTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3705471	ATTTTATT others(15): Show ATTTTATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp2 NA18906.hp1 NA20129.hp2	a0030 a0032 a0030 a0032	a0030c0073 a0032c0075 a0030c0073 a0032c0075	a0030c0073t0001 a0032c0075t0008 a0030c0073t0001 a0032c0075t0008	a0030c0073t0001g0015 a0032c0075t0008g0016 a0030c0073t0001g0015 a0032c0075t0008g0016	2	116	0.0172	-22	c.713 others(41): Show c.713+63381_713+63402delATTTTATTTTTTATTTTATTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73330545	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0018 a0018	a0018c0086 a0018c0086	a0018c0086t0012 a0018c0086t0012	a0018c0086t0012g0204 a0018c0086t0012g0204	1	204	0.0049	-22	c.80 others(33): Show c.8020_*8041delCACACACACACACACACACACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding		3838		chr17	TogoVar
SDK2_chr17_73329384_73649445	73483689	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02738.hp1 HG01167.hp1 HG01169.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0068 a0001c0008t0005 a0001c0001t0001 a0001c0001t0068 a0001c0008t0005	a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0008t0005g0134 a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0008t0005g0134	3	204	0.0147	-22	c.225 others(41): Show c.225-11493_225-11472delAAAATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73566319	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp2 HG02083.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0048 a0001c0001 a0001c0048	a0001c0001t0025 a0001c0048t0073 a0001c0001t0025 a0001c0048t0073	a0001c0001t0025g0085 a0001c0048t0073g0108 a0001c0001t0025g0085 a0001c0048t0073g0108	2	204	0.0098	-22	c.65- others(39): Show c.65-58744_65-58723delCACACACACACACACACACACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73588670	AGTGCTCA others(15): Show AGTGCTCAGGACAGCCTCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0011 a0004c0027t0011	a0004c0027t0011g0035 a0004c0027t0011g0035	1	204	0.0049	-22	c.64+ others(39): Show c.64+55333_64+55354delCGCAGGAGGCTGTCCTGAGCAC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDSL_chr12_113417380_113443276	113432268	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	298	0.0034	-22	c.355 others(39): Show c.355-1864_355-1843delTTCTTTCTTTCTTTCTTTCTTT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDSL_chr12_113417380_113443276	113432290	TTCTCTCT others(15): Show TTCTCTCTCTCTCTTTCTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	298	0.0034	-22	c.355 others(39): Show c.355-1840_355-1819delCTCTCTCTCTTTCTGTCTCTCT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02572.hp1 HG02615.hp2 others(7): Show HG00408.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0172 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0222 a0001c0001t0005g0011	10	320	0.0313	-22	c.52- others(37): Show c.52-8971_52-8950delTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC14L1_chr17_77135969_77222101	77145077	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTATGTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp1 others(90): Show HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02074.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18959.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18998.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0002 a0006c0013 a0009c0012 a0001c0002 a0006c0013 a0009c0012	a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 others(18): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0024 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0042 a0001c0002t0043 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0066 a0001c0002t0075 a0006c0013t0005 a0009c0012t0005	a0001c0002t0004g0002 a0001c0002t0004g0013 a0001c0002t0004g0014 others(88): Show a0001c0002t0004g0002 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0303 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0004g0336 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0002t0004g0340 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0004g0346 a0001c0002t0004g0347 a0001c0002t0004g0348 a0001c0002t0004g0351 a0001c0002t0004g0352 a0001c0002t0004g0354 a0001c0002t0004g0355 a0001c0002t0004g0356 a0001c0002t0004g0378 a0001c0002t0004g0379 a0001c0002t0004g0380 a0001c0002t0004g0381 a0001c0002t0004g0382 a0001c0002t0004g0383 a0001c0002t0004g0384 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0284 a0001c0002t0005g0289 a0001c0002t0005g0290 a0001c0002t0005g0291 a0001c0002t0005g0293 a0001c0002t0005g0295 a0001c0002t0005g0300 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0005g0311 a0001c0002t0005g0312 a0001c0002t0005g0313 a0001c0002t0005g0315 a0001c0002t0005g0321 a0001c0002t0005g0322 a0001c0002t0005g0327 a0001c0002t0005g0328 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0331 a0001c0002t0005g0371 a0001c0002t0005g0374 a0001c0002t0005g0376 a0001c0002t0005g0388 a0001c0002t0011g0344 a0001c0002t0011g0345 a0001c0002t0012g0323 a0001c0002t0012g0324 a0001c0002t0012g0325 a0001c0002t0012g0326 a0001c0002t0012g0377 a0001c0002t0014g0314 a0001c0002t0014g0317 a0001c0002t0024g0318 a0001c0002t0024g0319 a0001c0002t0027g0002 a0001c0002t0027g0349 a0001c0002t0028g0296 a0001c0002t0029g0002 a0001c0002t0029g0343 a0001c0002t0042g0353 a0001c0002t0043g0316 a0001c0002t0047g0350 a0001c0002t0048g0288 a0001c0002t0049g0373 a0001c0002t0052g0357 a0001c0002t0053g0339 a0001c0002t0055g0335 a0001c0002t0066g0301 a0001c0002t0075g0302 a0006c0013t0005g0292 a0009c0012t0005g0320	93	430	0.2163	-22	c.63+ others(37): Show c.63+1436_63+1457delATGTATGTGTGTGTGTGTGTGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454593	TATATAAT others(15): Show TATATAATCTATAATATTATTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	454	0.0022	-22	c.54 others(33): Show c.5406_*5427delCTAATAATATTATAGATTATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4635		chr22	TogoVar
SEC14L5_chr16_4953330_5024157	4954701	AGCCACTG others(15): Show AGCCACTGTGCTCGGACCATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03486.hp2 NA18522.hp2 HG02809.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0020 a0001c0001t0051 a0001c0029t0010 a0001c0001t0020 a0001c0001t0051 a0001c0029t0010	a0001c0001t0020g0243 a0001c0001t0051g0238 a0001c0029t0010g0237 a0001c0001t0020g0243 a0001c0001t0051g0238 a0001c0029t0010g0237	3	376	0.0080	-22	c.-37 others(33): Show c.-3795_-3774delGCCACTGTGCTCGGACCATTTT	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding		3628		chr16	TogoVar
SEC23A_chr14_39026919_39108235	39094393	CACACATA others(15): Show CACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp1 HG01123.hp1 HG00621.hp2 HG01099.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0171 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0001t0001g0171 a0001c0005t0001g0142 a0001c0005t0001g0143	3	366	0.0082	-22	c.222 others(39): Show c.222-1171_222-1150delATATATATATATATATATGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094428	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	366	0.0027	-22	c.222 others(39): Show c.222-1206_222-1185delAAAAAAAATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC61A2_chr10_12124677_12170407	12125699	GGTAGGTG others(15): Show GGTAGGTGACCATAGTTTAATCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	360	0.0028	-22	c.-40 others(33): Show c.-4088_-4067delGTAGGTGACCATAGTTTAATCA	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		3977		chr10	TogoVar
SEC63_chr6_107862756_107963208	107863971	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	332	0.0030	-22	c.77 others(33): Show c.7711_*7732delACACACACACACACACACACAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		3784		chr6	TogoVar
SEC63_chr6_107862756_107963208	107893107	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 NA18951.hp1 others(1): Show HG02965.hp1 HG03471.hp1 NA18951.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0028 a0001c0002t0005 a0001c0001t0008 a0001c0001t0028 a0001c0002t0005	a0001c0001t0008g0014 a0001c0001t0028g0015 a0001c0002t0005g0187 others(1): Show a0001c0001t0008g0014 a0001c0001t0028g0015 a0001c0002t0005g0187 a0001c0002t0005g0188	4	332	0.0121	-22	c.167 others(39): Show c.1674+353_1674+374delGTGTGTGTGTGTGTGTGTGTGT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	16/20			chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	48999318	TATCAGCT others(15): Show TATCAGCTCCTATGATAAAGATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01071.hp2 others(57): Show HG00140.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02040.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18951.hp2 NA18966.hp1 NA18986.hp1 NA18990.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19058.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0003t0002 a0001c0003t0003 a0001c0015t0003	a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0003g0035 others(56): Show a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0099 a0001c0001t0003g0252 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0052 a0001c0001t0010g0050 a0001c0001t0010g0051 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0010g0062 a0001c0001t0015g0079 a0001c0001t0015g0080 a0001c0003t0002g0218 a0001c0003t0003g0214 a0001c0003t0003g0215 a0001c0015t0003g0068	60	378	0.1587	-22	c.240 others(39): Show c.2403+493_2403+514delGATCTTTATCATAGGAGCTGAT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	16/17			chr15	TogoVar
SEL1L_chr14_81466547_81538853	81510283	GGAAATCA others(15): Show GGAAATCAGTGATTATAGAGAAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0035 a0001c0001t0023 a0001c0001t0035	a0001c0001t0023g0302 a0001c0001t0035g0301 a0001c0001t0023g0302 a0001c0001t0035g0301	2	360	0.0056	-22	c.341 others(39): Show c.341-4064_341-4043delGTTCTCTATAATCACTGATTTC	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SELENBP1_chr1_151359304_151377705	151362699	CTGAAGCT others(15): Show CTGAAGCTGTGCAGAGTGCAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0093 a0001c0011t0001g0093	1	438	0.0023	-22	c.18 others(33): Show c.1822_*1843delTCTTGCACTCTGCACAGCTTCA	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding		1604		chr1	TogoVar
SELENON_chr1_25795193_25823221	25812556	TACACACA others(15): Show TACACACAAACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02257.hp2 others(3): Show HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0027 a0001c0002t0008 a0001c0002t0027	a0001c0002t0008g0103 a0001c0002t0008g0131 a0001c0002t0008g0176 others(3): Show a0001c0002t0008g0103 a0001c0002t0008g0131 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0008g0178 a0001c0002t0027g0136	6	392	0.0153	-22	c.128 others(39): Show c.1282-123_1282-102delAACACACACACACACACACACA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	9/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819084	ATGCGGCC others(15): Show ATGCGGCCCGTTGTGACTGCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	392	0.0026	-22	c.33 others(33): Show c.3367_*3388delTGCGGCCCGTTGTGACTGCATG	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		864	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965627	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0163 a0001c0003t0006g0163	1	276	0.0036	-22	c.171 others(41): Show c.1718-2302_1718-2281delATATATATATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965646	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02886.hp1 others(2): Show HG01891.hp2 HG02258.hp1 HG02886.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0014 a0001c0003t0006g0083 a0001c0003t0006g0151 others(2): Show a0001c0003t0006g0014 a0001c0003t0006g0083 a0001c0003t0006g0151 a0001c0003t0006g0222 a0001c0003t0006g0246	5	276	0.0181	-22	c.171 others(41): Show c.1718-2321_1718-2300delAATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091196	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0191 a0001c0005t0001g0191	1	276	0.0036	-22	c.453 others(41): Show c.453+19252_453+19273delTCTTTTCTTTCTTTCTTTCTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84143947	TCTAACAC others(15): Show TCTAACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0037 a0001c0005t0004g0037	1	276	0.0036	-22	c.113 others(39): Show c.113-9018_113-8997delTGTGTGTGTGTGTGTGTGTTAG	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750435	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	244	0.0041	-22	c.171 others(39): Show c.1711+812_1711+833delATATATATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85050072	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG00738.hp2 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0186 a0001c0006t0019g0187 a0001c0006t0019g0186 a0001c0006t0019g0187	2	266	0.0075	-22	c.861 others(39): Show c.861+5623_861+5644delGTGTGTGTGTGTGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	9/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83390225	GCGCGTAT others(15): Show GCGCGTATATATGCGCGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG02572.hp1 others(13): Show HG01496.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03041.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 NA18953.hp2 NA18963.hp1 NA18984.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0002c0004 a0003c0007 a0004c0013	a0001c0001t0067 a0001c0001t0077 a0001c0005t0006 others(10): Show a0001c0001t0067 a0001c0001t0077 a0001c0005t0006 a0001c0014t0009 a0002c0004t0003 a0002c0004t0007 a0002c0004t0010 a0002c0004t0014 a0002c0004t0049 a0002c0004t0085 a0002c0004t0089 a0003c0007t0025 a0004c0013t0012	a0001c0001t0067g0066 a0001c0001t0077g0153 a0001c0005t0006g0043 others(13): Show a0001c0001t0067g0066 a0001c0001t0077g0153 a0001c0005t0006g0043 a0001c0005t0006g0044 a0001c0005t0006g0045 a0001c0005t0006g0049 a0001c0014t0009g0164 a0002c0004t0003g0134 a0002c0004t0007g0214 a0002c0004t0010g0205 a0002c0004t0014g0133 a0002c0004t0049g0015 a0002c0004t0085g0095 a0002c0004t0089g0179 a0003c0007t0025g0029 a0004c0013t0012g0023	16	226	0.0708	-22	c.166 others(41): Show c.1667+2308_1667+2329delTATATACGCGCATATATACGCG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar

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