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	119444158	TATATACA others(21): Show TATATACACATATGTATATATACATATGA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0273 a0001c0001t0001g0148 a0001c0001t0001g0273	2	290	0.0069	-28	c.114 others(47): Show c.1140+2573_1141-2560delTCATATGTATATATACATATGTGTAT AT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	631061	GGGTATGT others(21): Show GGGTATGTAACATACCCACTGAGTCATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-28	c.-39 others(39): Show c.-3946_-3919delATATGACTCAGTGGGTATGTTACATACC	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		3881		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192566	GTATATAT others(21): Show GTATATATATGTGTATATATATATACGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0073 a0002c0025t0073	a0002c0025t0073g0258 a0002c0025t0073g0258	1	280	0.0036	-28	c.11 others(41): Show c.11403_*11430delTACGTATATATATATACACATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4713		chr22	TogoVar
SCX_chr8_144261453_144273481	144262807	CCCCCCCC others(21): Show CCCCCCCCACCCCTCACCTGCAGGGTGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG03486.hp2 HG02647.hp2 HG02809.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0003g0001	3	440	0.0068	-28	c.-38 others(39): Show c.-3806_-3779delCCCCCCCACCCCTCACCTGCAGGGTGCA	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3645		chr8	TogoVar
SCYGR1_chr2_227382683_227392949	227387215	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	454	0.0022	-28	c.44 others(37): Show c.440_*467delTATATATATATAGAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		467		chr2	TogoVar
SDHA_chr5_213320_262082	229735	CTATAGTT others(21): Show CTATAGTTAACATTATACAGCATGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG03471.hp1 others(1): Show HG02280.hp2 HG02647.hp2 HG03471.hp1 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0006 a0004c0005t0004 a0004c0005t0006	a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 others(1): Show a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 a0004c0005t0006g0108	4	266	0.0150	-28	c.771 others(45): Show c.771-1138_771-1111delTAGTTAACATTATACAGCATGGTGGTTA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDHA_chr5_213320_262082	229823	AGTTAACA others(21): Show AGTTAACATTATACAGCATGCTGGCTATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG03471.hp1 others(1): Show HG02280.hp2 HG02647.hp2 HG03471.hp1 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0006 a0004c0005t0004 a0004c0005t0006	a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 others(1): Show a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 a0004c0005t0006g0108	4	266	0.0150	-28	c.771 others(45): Show c.771-1033_771-1006delCTGGCTATCGTTAACATTATACAGCATG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDHA_chr5_213320_262082	229994	CATTATAC others(21): Show CATTATACAGCATGGTGGCTAGAGTTAAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	266	0.0038	-28	c.771 others(43): Show c.771-861_771-834delGAGTTAATATTATACAGCATGGTGGCTA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDHA_chr5_213320_262082	259937	AGCTCCGC others(21): Show AGCTCCGCCTCCCGCCAGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18984.hp1 NA19004.hp2 NA18973.hp2 NA18984.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	266	0.0113	-28	c.35 others(39): Show c.3518_*3545delGCTCCGCCTCCCGCCAGAGCATTACCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2856		chr5	TogoVar
SDHA_chr5_213320_262082	260001	AGCTCCGC others(21): Show AGCTCCGCCTCCCCACAGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	266	0.0038	-28	c.35 others(39): Show c.3582_*3609delGCTCCGCCTCCCCACAGAGCATTACCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2920		chr5	TogoVar
SDK1_chr7_3296252_4274000	3299226	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp2 others(20): Show HG00408.hp2 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01934.hp1 HG02145.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG03139.hp1 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 NA18906.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0010 a0011 a0012 a0013 a0014 a0015 a0020 a0035	a0001c0007 a0001c0032 a0001c0039 others(18): Show a0001c0007 a0001c0032 a0001c0039 a0001c0062 a0001c0067 a0001c0092 a0002c0012 a0002c0013 a0002c0053 a0003c0001 a0004c0055 a0010c0019 a0010c0020 a0011c0021 a0011c0022 a0012c0086 a0013c0084 a0014c0083 a0015c0085 a0020c0089 a0035c0018	a0001c0007t0003 a0001c0032t0058 a0001c0039t0050 others(19): Show a0001c0007t0003 a0001c0032t0058 a0001c0039t0050 a0001c0062t0053 a0001c0067t0068 a0001c0092t0048 a0002c0012t0016 a0002c0013t0015 a0002c0053t0067 a0003c0001t0063 a0003c0001t0066 a0004c0055t0055 a0010c0019t0074 a0010c0020t0070 a0011c0021t0073 a0011c0022t0072 a0012c0086t0046 a0013c0084t0045 a0014c0083t0044 a0015c0085t0043 a0020c0089t0047 a0035c0018t0071	a0001c0007t0003g0033 a0001c0032t0058g0043 a0001c0039t0050g0022 others(20): Show a0001c0007t0003g0033 a0001c0032t0058g0043 a0001c0039t0050g0022 a0001c0062t0053g0042 a0001c0067t0068g0001 a0001c0092t0048g0057 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0015g0025 a0002c0053t0067g0034 a0003c0001t0063g0032 a0003c0001t0066g0041 a0004c0055t0055g0021 a0010c0019t0074g0009 a0010c0020t0070g0008 a0011c0021t0073g0006 a0011c0022t0072g0007 a0012c0086t0046g0012 a0013c0084t0045g0011 a0014c0083t0044g0004 a0015c0085t0043g0010 a0020c0089t0047g0056 a0035c0018t0071g0005	23	116	0.1983	-28	c.-23 others(39): Show c.-2360_-2333delTTTATTTATTTATTTATTTATTTATTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		2025		chr7	TogoVar
SDK1_chr7_3296252_4274000	3718521	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp1 NA19030.hp2 others(1): Show HG02145.hp1 NA18906.hp1 NA19030.hp2 NA20752.hp2	a0001 a0007 a0019 others(1): Show a0001 a0007 a0019 a0032	a0001c0002 a0007c0016 a0019c0051 others(1): Show a0001c0002 a0007c0016 a0019c0051 a0032c0075	a0001c0002t0040 a0007c0016t0001 a0019c0051t0062 others(1): Show a0001c0002t0040 a0007c0016t0001 a0019c0051t0062 a0032c0075t0008	a0001c0002t0040g0084 a0007c0016t0001g0114 a0019c0051t0062g0019 others(1): Show a0001c0002t0040g0084 a0007c0016t0001g0114 a0019c0051t0062g0019 a0032c0075t0008g0016	4	116	0.0345	-28	c.713 others(47): Show c.713+76457_713+76484delAATAAATAAATAAATAAATAAATAAA TA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263724	AGGGAGGC others(21): Show AGGGAGGCCGCGTAGACCTCTCCTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0013 a0001c0038t0013	a0001c0038t0013g0038 a0001c0038t0013g0038	1	116	0.0086	-28	c.638 others(47): Show c.6382-1355_6382-1328delCTCTCCTGAGTGGGGAGGCCGCGTAG AC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263922	AGGGAGGC others(21): Show AGGGAGGCCGCGTAGACCTCTCCTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG03195.hp1 others(2): Show HG01167.hp2 HG01175.hp1 HG03195.hp1 HG03453.hp2 NA19043.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0028	a0001c0038 a0004c0057 a0004c0058 others(2): Show a0001c0038 a0004c0057 a0004c0058 a0009c0079 a0028c0052	a0001c0038t0013 a0004c0057t0013 a0004c0058t0012 others(2): Show a0001c0038t0013 a0004c0057t0013 a0004c0058t0012 a0009c0079t0054 a0028c0052t0032	a0001c0038t0013g0038 a0004c0057t0013g0045 a0004c0058t0012g0063 others(2): Show a0001c0038t0013g0038 a0004c0057t0013g0045 a0004c0058t0012g0063 a0009c0079t0054g0073 a0028c0052t0032g0107	5	116	0.0431	-28	c.638 others(47): Show c.6382-1145_6382-1118delGGGAGGCCGCGTAGACCTCTCCTGAG TG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73405467	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0030 a0001c0008t0030	a0001c0008t0030g0103 a0001c0008t0030g0103	1	204	0.0049	-28	c.248 others(47): Show c.2485-3354_2485-3327delATATATATATATATATATATATATAT AT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73457222	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02818.hp1 HG01891.hp1 HG02145.hp1 HG02818.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0068 a0006c0085 a0008c0069 a0001c0068 a0006c0085 a0008c0069	a0001c0068t0007 a0006c0085t0095 a0008c0069t0102 a0001c0068t0007 a0006c0085t0095 a0008c0069t0102	a0001c0068t0007g0117 a0006c0085t0095g0042 a0008c0069t0102g0116 a0001c0068t0007g0117 a0006c0085t0095g0042 a0008c0069t0102g0116	3	204	0.0147	-28	c.332 others(45): Show c.332-1197_332-1170delGAAGGAAGGAAGGAAGGAAGGAAGGAAG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483661	GTATATAT others(21): Show GTATATATATATATATATATATTTATATA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0031 a0001c0064t0031	a0001c0064t0031g0160 a0001c0064t0031g0160	1	204	0.0049	-28	c.225 others(47): Show c.225-11471_225-11444delTATATAAATATATATATATATATATA TA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483685	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0025 a0025	a0025c0057 a0025c0057	a0025c0057t0003 a0025c0057t0003	a0025c0057t0003g0171 a0025c0057t0003g0171	1	204	0.0049	-28	c.225 others(47): Show c.225-11495_225-11468delAAAAAATATATATATATATATATATA TA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDSL_chr12_113417380_113443276	113432209	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01255.hp2 others(10): Show HG00639.hp1 HG01243.hp2 HG01255.hp2 HG02109.hp2 HG02602.hp1 HG02976.hp1 HG03579.hp2 HG03927.hp1 NA18968.hp1 NA19009.hp2 NA19076.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0040 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0179 a0001c0001t0001g0189	13	298	0.0436	-28	c.355 others(45): Show c.355-1868_355-1841delTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02683.hp2 HG03688.hp1 others(2): Show HG00140.hp2 HG02683.hp2 HG03688.hp1 HG03942.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250	5	320	0.0156	-28	c.52- others(43): Show c.52-8977_52-8950delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC14L1_chr17_77135969_77222101	77145077	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTATGTATGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0298 a0001c0002t0005g0298	1	430	0.0023	-28	c.63+ others(43): Show c.63+1436_63+1463delATGTATGTGTGTGTGTGTGTGTGTGTGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC23A_chr14_39026919_39108235	39094227	TATATATA others(21): Show TATATATATATGCATATATACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0249 a0001c0001t0003g0362 a0001c0001t0002g0249 a0001c0001t0003g0362	2	366	0.0055	-28	c.222 others(44): Show c.222-1011_222-984delGTATATGTGTATATATGCATATATATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094249	CATATACA others(21): Show CATATACATATATATGCATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02145.hp2 others(7): Show HG01109.hp2 HG01261.hp1 HG02145.hp2 HG02559.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0002g0003 a0001c0001t0002g0244 others(6): Show a0001c0001t0001g0120 a0001c0001t0002g0003 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254	10	366	0.0273	-28	c.222 others(45): Show c.222-1033_222-1006delATGTGTATATATGCATATATATGTATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094391	CACACACA others(21): Show CACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0354 a0001c0003t0001g0354	1	366	0.0027	-28	c.222 others(45): Show c.222-1175_222-1148delATATATATATATATATATATATGTGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094418	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	366	0.0027	-28	c.222 others(45): Show c.222-1202_222-1175delAAAATATATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094420	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0346 a0001c0001t0001g0347	2	366	0.0055	-28	c.222 others(45): Show c.222-1204_222-1177delAAAAAATATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094422	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03486.hp2 others(1): Show HG02145.hp1 HG02970.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 others(1): Show a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358	4	366	0.0109	-28	c.222 others(45): Show c.222-1206_222-1179delAAAAAAAATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18982.hp2 HG02523.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	222	0.0090	-28	c.133 others(45): Show c.133+5490_133+5517delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482936	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	222	0.0045	-28	c.116 others(47): Show c.1165+1172_1165+1199delTATATATATATATATATATATATATA TA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(79): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG06807.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0001 a0003c0006 a0005c0009 others(1): Show a0001c0001 a0003c0006 a0005c0009 a0010c0012	a0001c0001t0001 a0003c0006t0001 a0005c0009t0001 others(1): Show a0001c0001t0001 a0003c0006t0001 a0005c0009t0001 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0301 a0001c0001t0001g0305 a0003c0006t0001g0113 a0003c0006t0001g0114 a0003c0006t0001g0115 a0003c0006t0001g0116 a0005c0009t0001g0044 a0010c0012t0001g0196	82	328	0.2500	-28	c.119 others(45): Show c.1198-966_1198-939delTATATATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26			chr4	TogoVar
SECTM1_chr17_82316024_82338766	82333604	TCAGCACC others(21): Show TCAGCACCGAGTCCCCAGCACCGAGTCCC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0020 a0002c0013t0020	a0002c0013t0020g0036 a0002c0013t0020g0036	1	374	0.0027	-28	c.-53 others(41): Show c.-53+68_-53+95delGGGACTCGGTGCTGGGGACTCGGTGCTG	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding	1/4			chr17	TogoVar
SEL1L3_chr4_25742433_25867988	25790610	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02922.hp2 NA19030.hp1 HG00741.hp1 HG02922.hp2 NA19030.hp1	a0001 a0005 a0018 a0001 a0005 a0018	a0001c0001 a0005c0021 a0018c0032 a0001c0001 a0005c0021 a0018c0032	a0001c0001t0010 a0005c0021t0003 a0018c0032t0019 a0001c0001t0010 a0005c0021t0003 a0018c0032t0019	a0001c0001t0010g0129 a0005c0021t0003g0283 a0018c0032t0019g0170 a0001c0001t0010g0129 a0005c0021t0003g0283 a0018c0032t0019g0170	3	312	0.0096	-28	c.195 others(43): Show c.1957-64_1957-37delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790640	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02647.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0055 a0001c0011t0002g0101 a0001c0011t0002g0055 a0001c0011t0002g0101	2	312	0.0064	-28	c.195 others(43): Show c.1957-94_1957-67delCCCTTCCTTCCTTCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790644	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG01192.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0204 a0001c0001t0018g0233 a0001c0001t0001g0204 a0001c0001t0018g0233	2	312	0.0064	-28	c.195 others(43): Show c.1957-98_1957-71delCCCTCCCTTCCTTCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790648	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01081.hp2 others(4): Show HG00642.hp2 HG00738.hp2 HG01081.hp2 HG01981.hp2 HG03710.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0001g0256 a0001c0001t0002g0069 others(4): Show a0001c0001t0001g0235 a0001c0001t0001g0256 a0001c0001t0002g0069 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0246 a0001c0001t0002g0264	7	312	0.0224	-28	c.195 others(44): Show c.1957-102_1957-75delCCCTCCCTCCCTTCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SELENOF_chr1_86857445_86919126	86873044	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(72): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18946.hp1 NA18949.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA19030.hp2 NA19089.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(65): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0006g0008 a0001c0001t0006g0093 a0001c0001t0008g0030 a0001c0002t0002g0014	75	226	0.3319	-28	c.317 others(45): Show c.317-4970_317-4943delATTTATTTATTTATTTATTTATTTATTT	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	3/4			chr1	TogoVar
SELE_chr1_169717640_169739079	169738619	GCAAACTC others(21): Show GCAAACTCAGGCACACCCCGGTGTCTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	438	0.0023	-28	c.-47 others(39): Show c.-4725_-4698delGGCAGACACCGGGGTGTGCCTGAGTTTG	SELE	ENSG00000007908.16	transcript	ENST00000333360.12	protein_coding		4541		chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965646	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	276	0.0036	-28	c.171 others(47): Show c.1718-2327_1718-2300delAAAAAAAATATATATATATATATATA TA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091159	GGAAGGAA others(21): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp2 HG02559.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0014 a0001c0003 a0005c0014	a0001c0003t0008 a0005c0014t0008 a0001c0003t0008 a0005c0014t0008	a0001c0003t0008g0076 a0005c0014t0008g0160 a0001c0003t0008g0076 a0005c0014t0008g0160	2	276	0.0073	-28	c.453 others(47): Show c.453+19283_453+19310delTTTCTTTCTTTCTTTCTTTCCTTCCT TC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091163	GGAAGGAA others(21): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02809.hp2 others(1): Show HG02055.hp1 HG02280.hp1 HG02809.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 others(1): Show a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0223	4	276	0.0145	-28	c.453 others(47): Show c.453+19279_453+19306delTTTCTTTCTTTCTTTCTTTCTTTCCT TC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84136960	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp2 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0083 a0001c0003t0006g0222 a0001c0003t0006g0083 a0001c0003t0006g0222	2	276	0.0073	-28	c.113 others(45): Show c.113-2037_113-2010delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750447	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03516.hp2 HG02486.hp2 HG02559.hp1 HG03516.hp2	a0004 a0004	a0004c0015 a0004c0021 a0004c0015 a0004c0021	a0004c0015t0003 a0004c0021t0003 a0004c0015t0003 a0004c0021t0003	a0004c0015t0003g0051 a0004c0015t0003g0053 a0004c0021t0003g0049 a0004c0015t0003g0051 a0004c0015t0003g0053 a0004c0021t0003g0049	3	244	0.0123	-28	c.171 others(45): Show c.1711+794_1711+821delGTATATATATATATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168820	TGAAAGAA others(21): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp2 HG01934.hp1 others(12): Show HG00280.hp2 HG01346.hp2 HG01934.hp1 HG02027.hp2 HG02165.hp1 HG02523.hp1 HG03017.hp2 HG03688.hp2 NA18612.hp2 NA18955.hp2 NA19005.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0013 a0001c0001 a0002c0002 a0007c0013	a0001c0001t0001 a0001c0001t0008 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0003 a0007c0013t0001	a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0008g0250 a0001c0001t0008g0257 a0001c0001t0008g0258 a0002c0002t0003g0075 a0002c0002t0003g0088 a0007c0013t0001g0093	15	266	0.0564	-28	c.-17 others(49): Show c.-172-15109_-172-15082delTTTCTTTCTTTCTTTCTTTCTTTC TTTC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83387839	GTTATATA others(21): Show GTTATATATATGTTTATATATATATAACA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0075 a0001c0003t0020g0075	1	226	0.0044	-28	c.166 others(45): Show c.1668-817_1668-790delTGTTATATATATATAAACATATATATAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593282	CTCTGTGT others(21): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp2 HG03540.hp1 HG01243.hp1 HG03516.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0023 a0002c0004t0091 a0001c0001t0023 a0002c0004t0091	a0001c0001t0023g0186 a0001c0001t0023g0187 a0002c0004t0091g0189 a0001c0001t0023g0186 a0001c0001t0023g0187 a0002c0004t0091g0189	3	226	0.0133	-28	c.115 others(47): Show c.115+55118_115+55145delCACACACACACACACACACACACACA GA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9131631	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02976.hp1 HG01123.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0022 a0001c0007 a0001c0022	a0001c0007t0017 a0001c0022t0055 a0001c0007t0017 a0001c0022t0055	a0001c0007t0017g0084 a0001c0022t0055g0081 a0001c0007t0017g0084 a0001c0022t0055g0081	2	134	0.0149	-28	c.159 others(47): Show c.1599+4845_1599+4872delGTTTTTTTTTTTTTTTTTTTTTTTTT TT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207872	GATAGATA others(21): Show GATAGATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	-28	c.647 others(45): Show c.647-5660_647-5633delGTATCTATCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384591	GATAGATA others(21): Show GATAGATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp2 NA19043.hp2 others(2): Show HG03516.hp1 HG03516.hp2 NA19043.hp2 NA19068.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0001t0033 a0001c0001t0068 others(2): Show a0001c0001t0008 a0001c0001t0033 a0001c0001t0068 a0001c0002t0063 a0001c0003t0003	a0001c0001t0008g0111 a0001c0001t0033g0057 a0001c0001t0068g0129 others(2): Show a0001c0001t0008g0111 a0001c0001t0033g0057 a0001c0001t0068g0129 a0001c0002t0063g0100 a0001c0003t0003g0031	5	134	0.0373	-28	c.-77 others(45): Show c.-77-4596_-77-4569delGTATCTATCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384619	CATAGATA others(21): Show CATAGATAGATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18970.hp2 HG03225.hp1 NA18970.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0043 a0001c0005t0001 a0001c0006t0043	a0001c0005t0001g0054 a0001c0006t0043g0007 a0001c0005t0001g0054 a0001c0006t0043g0007	2	134	0.0149	-28	c.-77 others(45): Show c.-77-4624_-77-4597delCTATCTATCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMG1_chr20_45202033_45214768	45213773	GTTTTTAG others(21): Show GTTTTTAGCCATTATATCTTCAAATATCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-28	c.42 others(39): Show c.4218_*4245delTTTTTAGCCATTATATCTTCAAATATCC	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		4006		chr20	TogoVar

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