JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(23): Show CACACACACACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03834.hp2 HG01258.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0002t0004g0099 a0001c0002t0004g0100	2	222	0.0090	30	c.116 others(49): Show c.1165+1223_1165+1224insCACACACACACACACATACACACACA CATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483044	G G	GTATTTAT others(23): Show GTATTTATGTATTTATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02723.hp1 others(6): Show HG01884.hp2 HG02615.hp2 HG02723.hp1 HG02922.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(6): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0112 a0001c0001t0010g0069	9	222	0.0405	30	c.116 others(49): Show c.1165+1288_1165+1289insGTATTTATTTATGTATTTATATATAT ATAT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	300	0.0033	30	c.802 others(47): Show c.802-4150_802-4121dupCACACACACACACACACACACACACACA CA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02698.hp1 NA19086.hp2 HG01256.hp2 HG02698.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0002t0001g0259 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0002t0001g0259	3	328	0.0092	30	c.296 others(47): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841465	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	328	0.0031	30	c.296 others(47): Show c.2968+674_2968+675insGTATATATATATATATATATATATATAT AT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841467	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0291	1	328	0.0031	30	c.296 others(47): Show c.2968+672_2968+673insGTATATATATATATATATATATATATAT AT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(23): Show ATATATATATATACGCGTATATATATACGCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	328	0.0031	30	c.-5+ others(45): Show c.-5+2701_-5+2702insCGCGTATATATATACGCGTATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(23): Show ATATATATATATATGCGTATATATATACGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02647.hp2 others(3): Show HG01243.hp1 HG01884.hp1 HG02647.hp2 HG02723.hp1 HG03139.hp2 HG03209.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0005 a0004c0013 a0008c0011 a0001c0005 a0004c0013 a0008c0011	a0001c0005t0001 a0004c0013t0001 a0008c0011t0001 a0001c0005t0001 a0004c0013t0001 a0008c0011t0001	a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 others(3): Show a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0004c0013t0001g0309 a0008c0011t0001g0310	6	328	0.0183	30	c.-5+ others(45): Show c.-5+2701_-5+2702insCGCGTATATATATACGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	30	c.-18 others(41): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107863571	C C	CGCGCGCG others(23): Show CGCGCGCGCGCGCGCGCGCGCGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	332	0.0030	30	c.81 others(41): Show c.8132_*8133insACACACACACGCGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4184		chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0139 a0002c0002t0004g0139	1	378	0.0027	30	c.186 others(47): Show c.1865-776_1865-747dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(23): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01891.hp2 HG02071.hp2 others(1): Show HG00099.hp2 HG01891.hp2 HG02071.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0283 a0001c0001t0001g0293 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0300	4	324	0.0124	30	c.11 others(41): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(23): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03831.hp2 others(2): Show HG03041.hp1 HG03195.hp2 HG03831.hp2 NA19087.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0002 a0001c0001t0001 a0007c0010t0002	a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0220 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0220 a0001c0001t0001g0238 a0007c0010t0002g0035	5	324	0.0154	30	c.11 others(41): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(23): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	324	0.0031	30	c.11 others(41): Show c.1165_*1166insTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(23): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03471.hp1 NA19240.hp1 HG02258.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133	3	324	0.0093	30	c.11 others(41): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848355	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	324	0.0031	30	c.11 others(41): Show c.1129_*1130insACTTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		891		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848356	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02717.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0060 a0001c0001t0002g0061	2	324	0.0062	30	c.11 others(41): Show c.1128_*1129insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		890		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18957.hp2 NA18990.hp1 others(2): Show HG02165.hp2 NA18957.hp2 NA18990.hp1 NA19001.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0222 a0002c0002t0003g0260 others(2): Show a0002c0002t0003g0168 a0002c0002t0003g0222 a0002c0002t0003g0260 a0002c0002t0003g0280 a0002c0002t0003g0282	5	324	0.0154	30	c.11 others(41): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	30	c.115 others(47): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(23): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04184.hp2 NA18942.hp1 others(2): Show HG03927.hp1 HG04184.hp2 NA18942.hp1 NA18949.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0044 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0068 a0001c0001t0002g0069	5	324	0.0154	30	c.115 others(47): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	324	0.0031	30	c.58+ others(45): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(23): Show TATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02809.hp1 others(1): Show HG01891.hp1 HG02055.hp2 HG02809.hp1 HG02922.hp2	a0001 a0005 a0016 a0001 a0005 a0016	a0001c0001 a0005c0019 a0005c0021 others(1): Show a0001c0001 a0005c0019 a0005c0021 a0016c0020	a0001c0001t0009 a0005c0019t0002 a0005c0021t0003 others(1): Show a0001c0001t0009 a0005c0019t0002 a0005c0021t0003 a0016c0020t0002	a0001c0001t0009g0285 a0005c0019t0002g0010 a0005c0021t0003g0283 others(1): Show a0001c0001t0009g0285 a0005c0019t0002g0010 a0005c0021t0003g0283 a0016c0020t0002g0011	4	312	0.0128	30	c.19 others(41): Show c.1909_*1910insTTAAATATATATATATATATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SELENOM_chr22_31099777_31112568	31107583	G G	GCCCCGCC others(23): Show GCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG03540.hp2 HG02129.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	378	0.0053	30	c.-79 others(37): Show c.-79_-78insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		16		chr22	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG04228.hp1 HG02155.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0224 a0001c0001t0002g0194 a0001c0001t0002g0224	2	380	0.0053	30	c.35 others(41): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA3A_chr7_83950777_84199789	84195008	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0008 a0005c0014t0008	a0005c0014t0008g0160 a0005c0014t0008g0160	1	276	0.0036	30	c.-42 others(39): Show c.-423_-422insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding		220		chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80905267	A A	AGAGAGAG others(23): Show AGAGAGAGGGGGAGAGAGGGGGAGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0052 a0001c0002t0004g0052	1	244	0.0041	30	c.103 others(49): Show c.103+11382_103+11411dupCCCCTCTCTCCCCCTCTCTCCCCCTC TCTC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CATACACA others(23): Show CATACACACACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01934.hp1 HG02647.hp1 others(1): Show HG00738.hp1 HG01934.hp1 HG02647.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0033 a0002c0002t0003 a0002c0003t0006 a0001c0001t0033 a0002c0002t0003 a0002c0003t0006	a0001c0001t0033g0164 a0002c0002t0003g0012 a0002c0002t0003g0075 others(1): Show a0001c0001t0033g0164 a0002c0002t0003g0012 a0002c0002t0003g0075 a0002c0003t0006g0233	4	266	0.0150	30	c.589 others(47): Show c.589+1277_589+1278insCTCTCTCTCTCTCTCTCTCTGTGTGTGT AT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTCT others(23): Show CTCTCTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0191 a0001c0004t0023g0191	1	370	0.0027	30	c.-30 others(49): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAAAAAAAAAAGA GAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9088636	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0110 a0001c0023t0018g0110	1	134	0.0075	30	c.207 others(51): Show c.2073+19503_2073+19504insTATATATATATATATATATATATA TATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088637	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19240.hp1 HG04115.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0001 a0001c0001t0008 a0001c0006t0001	a0001c0001t0008g0111 a0001c0006t0001g0024 a0001c0001t0008g0111 a0001c0006t0001g0024	2	134	0.0149	30	c.207 others(51): Show c.2073+19502_2073+19503insATATATATATATATATATATATAT ATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	30	c.207 others(51): Show c.2073+19480_2073+19481insGTGTGTGTGTGTATATATATATAT ATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18522.hp1 HG02809.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0074 a0001c0001t0001 a0001c0017t0074	a0001c0001t0001g0010 a0001c0017t0074g0105 a0001c0001t0001g0010 a0001c0017t0074g0105	2	134	0.0149	30	c.207 others(51): Show c.2073+19480_2073+19481insGTGTGTGTATATATATATATATAT ATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0034 a0001c0007t0034	a0001c0007t0034g0033 a0001c0007t0034g0033	1	134	0.0075	30	c.207 others(51): Show c.2073+19480_2073+19481insGTATATATATATATATATATATAT ATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9154093	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	134	0.0075	30	c.148 others(47): Show c.1481+394_1481+395insCACACACACACACATATATATATATATA TA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	12/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197728	T T	TTGTATGT others(23): Show TTGTATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0073 a0001c0002t0022g0073	1	134	0.0075	30	c.933 others(45): Show c.933-426_933-425insCACACACACACACACACACACACACATACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9287925	G G	GATTCTGA others(23): Show GATTCTGAATATCCTTCCAGATATTCTGAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0023 a0001c0001t0046g0023	1	134	0.0075	30	c.270 others(49): Show c.270+30417_270+30446dupATTCAGAATATCTGGAAGGATATTCA GAAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353077	A A	AGGAAAGG others(23): Show AGGAAAGGAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19043.hp2 HG01123.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0003 a0001c0007t0017 a0001c0003t0003 a0001c0007t0017	a0001c0003t0003g0031 a0001c0007t0017g0084 a0001c0003t0003g0031 a0001c0007t0017g0084	2	134	0.0149	30	c.125 others(49): Show c.125-15266_125-15265insCTTTCCTTTCCTTTCCTTTCCTTCCT TTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353096	A A	AAGGAAAG others(23): Show AAGGAAAGGAAGGAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0023 a0001c0001t0046g0023	1	134	0.0075	30	c.125 others(49): Show c.125-15285_125-15284insCTTTCCTTTCCTTTCCTTCCTTCCTT TCCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353184	G G	GGGAAAGG others(23): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02647.hp2 others(1): Show HG01255.hp2 HG01884.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0030 a0001c0001t0070 a0001c0005t0007 others(1): Show a0001c0001t0030 a0001c0001t0070 a0001c0005t0007 a0001c0006t0044	a0001c0001t0030g0032 a0001c0001t0070g0117 a0001c0005t0007g0082 others(1): Show a0001c0001t0030g0032 a0001c0001t0070g0117 a0001c0005t0007g0082 a0001c0006t0044g0009	4	134	0.0299	30	c.125 others(49): Show c.125-15373_125-15372insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353189	G G	GGGAAAGG others(23): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02818.hp2 HG02896.hp1 others(6): Show HG01123.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03540.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0003c0020	a0001c0001t0053 a0001c0001t0054 a0001c0003t0012 others(5): Show a0001c0001t0053 a0001c0001t0054 a0001c0003t0012 a0001c0003t0072 a0001c0004t0002 a0001c0005t0065 a0001c0007t0017 a0003c0020t0071	a0001c0001t0053g0080 a0001c0001t0054g0094 a0001c0003t0012g0068 others(6): Show a0001c0001t0053g0080 a0001c0001t0054g0094 a0001c0003t0012g0068 a0001c0003t0072g0124 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0005t0065g0123 a0001c0007t0017g0084 a0003c0020t0071g0108	9	134	0.0672	30	c.125 others(49): Show c.125-15407_125-15378dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353236	G G	GAAAGGAA others(23): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0078 a0001c0001t0008 a0001c0001t0078	a0001c0001t0008g0111 a0001c0001t0078g0109 a0001c0001t0008g0111 a0001c0001t0078g0109	2	134	0.0149	30	c.125 others(49): Show c.125-15425_125-15424insTCCTTCCTTTCCTTTCCTTTCCTTTC CTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353354	G G	GAAGGAAA others(23): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	30	c.125 others(49): Show c.125-15572_125-15543dupTCCTTTCCTTTCCTTTCCTTTCCTTT CCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353386	A A	AGGAAAGG others(23): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0127 a0001c0001t0064g0127	1	134	0.0075	30	c.125 others(49): Show c.125-15575_125-15574insCTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116524775	C C	CACACACA others(23): Show CACACACACACACAGACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(192): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0001c0013 a0001c0014 a0002c0002 a0003c0005 a0004c0006 a0005c0015 a0007c0010 a0008c0009 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0084 a0001c0003t0004 a0001c0003t0014 a0001c0003t0055 a0001c0003t0085 a0001c0004t0001 a0001c0004t0017 a0001c0004t0027 a0001c0004t0035 a0001c0007t0051 a0001c0011t0015 a0001c0013t0017 a0001c0014t0001 a0002c0002t0009 a0002c0002t0011 a0002c0002t0075 a0003c0005t0028 a0004c0006t0042 a0005c0015t0087 a0007c0010t0007 a0008c0009t0003 a0009c0008t0067	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(191): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0148 a0001c0001t0003g0160 a0001c0001t0003g0202 a0001c0001t0004g0116 a0001c0001t0005g0130 a0001c0001t0005g0155 a0001c0001t0006g0006 a0001c0001t0006g0108 a0001c0001t0006g0141 a0001c0001t0006g0188 a0001c0001t0006g0192 a0001c0001t0007g0014 a0001c0001t0007g0056 a0001c0001t0007g0060 a0001c0001t0007g0083 a0001c0001t0007g0087 a0001c0001t0007g0095 a0001c0001t0008g0272 a0001c0001t0010g0221 a0001c0001t0010g0226 a0001c0001t0010g0233 a0001c0001t0010g0251 a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0012g0040 a0001c0001t0012g0066 a0001c0001t0012g0082 a0001c0001t0013g0103 a0001c0001t0013g0184 a0001c0001t0015g0085 a0001c0001t0015g0094 a0001c0001t0015g0105 a0001c0001t0016g0244 a0001c0001t0018g0152 a0001c0001t0018g0162 a0001c0001t0019g0086 a0001c0001t0020g0208 a0001c0001t0020g0209 a0001c0001t0020g0210 a0001c0001t0021g0262 a0001c0001t0023g0296 a0001c0001t0024g0039 a0001c0001t0024g0144 a0001c0001t0025g0170 a0001c0001t0026g0045 a0001c0001t0026g0185 a0001c0001t0031g0279 a0001c0001t0033g0298 a0001c0001t0033g0299 a0001c0001t0034g0273 a0001c0001t0036g0003 a0001c0001t0038g0173 a0001c0001t0039g0050 a0001c0001t0040g0180 a0001c0001t0041g0150 a0001c0001t0044g0166 a0001c0001t0045g0146 a0001c0001t0047g0113 a0001c0001t0048g0020 a0001c0001t0054g0047 a0001c0001t0056g0080 a0001c0001t0057g0070 a0001c0001t0059g0005 a0001c0001t0060g0029 a0001c0001t0061g0107 a0001c0001t0064g0207 a0001c0001t0065g0211 a0001c0001t0068g0217 a0001c0001t0069g0218 a0001c0001t0071g0238 a0001c0001t0072g0242 a0001c0001t0074g0227 a0001c0001t0084g0301 a0001c0003t0004g0008 a0001c0003t0004g0142 a0001c0003t0014g0157 a0001c0003t0055g0190 a0001c0003t0085g0300 a0001c0004t0001g0069 a0001c0004t0017g0153 a0001c0004t0027g0151 a0001c0004t0035g0274 a0001c0004t0035g0292 a0001c0007t0051g0133 a0001c0011t0015g0110 a0001c0013t0017g0154 a0001c0014t0001g0034 a0002c0002t0009g0010 a0002c0002t0009g0023 a0002c0002t0009g0024 a0002c0002t0009g0057 a0002c0002t0009g0177 a0002c0002t0011g0216 a0002c0002t0011g0220 a0002c0002t0011g0222 a0002c0002t0075g0269 a0003c0005t0028g0212 a0003c0005t0028g0213 a0004c0006t0042g0156 a0005c0015t0087g0302 a0007c0010t0007g0178 a0008c0009t0003g0007 a0009c0008t0067g0225	195	304	0.6415	30	c.-38 others(49): Show c.-38-19794_-38-19793insCTGTGTGTGTGTGTGTCTGTGTGTGT GTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6D_chr15_47712505_47779228	47746984	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01074.hp2 HG00544.hp1 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0016 a0002c0003 a0002c0016	a0002c0003t0004 a0002c0016t0004 a0002c0003t0004 a0002c0016t0004	a0002c0003t0004g0123 a0002c0016t0004g0051 a0002c0003t0004g0123 a0002c0016t0004g0051	2	388	0.0052	30	c.-54 others(49): Show c.-54-12742_-54-12741insATATATATATATATATATATATATAT ATAT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 HG04199.hp2 others(5): Show HG00438.hp2 HG01168.hp2 HG04199.hp2 NA18972.hp1 NA18977.hp1 NA19009.hp1 NA19058.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0008 a0001c0001t0003g0196 a0001c0001t0003g0200 others(5): Show a0001c0001t0003g0008 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0224 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0327	8	394	0.0203	30	c.553 others(47): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	394	0.0025	30	c.553 others(47): Show c.553-3542_553-3541insGTGTATATATATATATATATATATATAT AT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(12): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG02015.hp1 HG02523.hp1 HG02630.hp2 HG03516.hp1 HG03688.hp2 NA18952.hp1 NA18987.hp2 NA18990.hp1 NA19055.hp2 NA19057.hp2 NA19067.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0022 a0001c0003t0008	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0063 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0004g0259 a0001c0001t0005g0229 a0001c0001t0013g0024 a0001c0001t0022g0132 a0001c0003t0008g0151	15	394	0.0381	30	c.553 others(47): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT AT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185631465	C C	CCCCTCCC others(23): Show CCCCTCCCCCCTCCCTCCCTCCCTCCCCCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0046 a0001c0001t0040g0046	1	360	0.0028	30	c.16 others(41): Show c.1628_*1629insCCCTCCCTCCCTCCCTCCCCCCTCCCTCCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1629	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02622.hp1 HG01346.hp1 HG02622.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0010 a0009c0013t0005 a0001c0001t0010 a0009c0013t0005	a0001c0001t0010g0182 a0009c0013t0005g0140 a0001c0001t0010g0182 a0009c0013t0005g0140	2	362	0.0055	30	c.43 others(41): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar

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