Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(25): Show CACACACACACACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0103	1	222	0.0045	32	c.116 others(51): Show c.1165+1223_1165+1224insCACACACACACACACACATACACACA CACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp2 HG02818.hp1 others(5): Show HG01081.hp1 HG02735.hp2 HG02818.hp1 HG03704.hp1 NA18947.hp2 NA18963.hp1 NA18982.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0154 others(5): Show a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0202	8	328	0.0244	32	c.296 others(49): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841465	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	328	0.0031	32	c.296 others(49): Show c.2968+674_2968+675insGTATATATATATATATATATATATATAT ATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841467	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	328	0.0031	32	c.296 others(49): Show c.2968+672_2968+673insGTATATATATATATATATATATATATAT ATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC63_chr6_107862756_107963208	107960126	A A	ACTCTCTT others(25): Show ACTCTCTTTTCCTCCTCCTCCGTTGTTGTTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0109 a0001c0001t0009g0109	1	332	0.0030	32	c.-21 others(43): Show c.-2118_-2117insACCAACAACAACGGAGGAGGAGGAAAAGAGAG	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		1919		chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0097	1	378	0.0027	32	c.186 others(49): Show c.1865-747_1865-746insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SECTM1_chr17_82316024_82338766	82318430	T T	TGTGTGCA others(25): Show TGTGTGCAGAGACGGGTGCGTGTGGACACGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0119 a0002c0003t0018g0119	1	374	0.0027	32	c.37 others(43): Show c.3730_*3731insGCACGTGTCCACACGCACCCGTCTCTGCACAC	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		2593		chr17	TogoVar
SECTM1_chr17_82316024_82338766	82318915	A A	ATGTGTGT others(25): Show ATGTGTGTGGACACGCGTGTGTGCAGAGACGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	374	0.0027	32	c.32 others(43): Show c.3245_*3246insCCCGTCTCTGCACACACGCGTGTCCACACACA	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		2108		chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934433	C C	CATATATA others(25): Show CATATATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	324	0.0031	32	c.115 others(49): Show c.115-2663_115-2662insATGGAATATATATATATGGAATATATAT ATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(25): Show CATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18957.hp1 NA18961.hp2 NA18950.hp2 NA18957.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0067 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0067	3	324	0.0093	32	c.115 others(49): Show c.115-2676_115-2675insATGGAATATATATATATATGGAATATAT ATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	324	0.0031	32	c.115 others(49): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(25): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18990.hp2 NA19009.hp1 others(1): Show NA18943.hp1 NA18990.hp2 NA19009.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0049 others(1): Show a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0054	4	324	0.0124	32	c.115 others(49): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746513	T T	TATATATA others(25): Show TATATATATATATTTAAATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03209.hp2 HG03471.hp1 others(2): Show HG02258.hp1 HG03209.hp2 HG03471.hp1 NA18906.hp1 NA19063.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0002c0009 a0007c0033	a0001c0001t0001 a0001c0006t0007 a0001c0008t0007 others(2): Show a0001c0001t0001 a0001c0006t0007 a0001c0008t0007 a0002c0009t0007 a0007c0033t0007	a0001c0001t0001g0078 a0001c0006t0007g0125 a0001c0008t0007g0161 others(2): Show a0001c0001t0001g0078 a0001c0006t0007g0125 a0001c0008t0007g0161 a0002c0009t0007g0298 a0007c0033t0007g0171	5	312	0.0160	32	c.19 others(43): Show c.1911_*1912insTTAAATATATATATATTTAAATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		919		chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0187 a0002c0002t0005g0187	1	312	0.0032	32	c.19 others(43): Show c.1909_*1910insTTAAATATATATATATATATATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SELENOK_chr3_53879417_53896859	53894215	A A	ATATAGTT others(25): Show ATATAGTTAGTTACAATTATAGTTAGTTACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	422	0.0024	32	c.-24 others(43): Show c.-2428_-2427insATTGTAACTAACTATAATTGTAACTAACTATA	SELENOK	ENSG00000113811.12	transcript	ENST00000495461.6	protein_coding		2357		chr3	TogoVar
SELENON_chr1_25795193_25823221	25819427	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0045 a0001c0004t0006g0045	1	392	0.0026	32	c.37 others(43): Show c.3709_*3710insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1207	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGAGAG others(25): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0053 a0001c0004t0012g0053	1	392	0.0026	32	c.37 others(43): Show c.3711_*3712insGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	392	0.0026	32	c.37 others(43): Show c.3711_*3712insGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOT_chr3_150598321_150635436	150629144	T T	TGTTGAAT others(25): Show TGTTGAATGCATGTCAGGTAATGGTCTTGATTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0116 a0001c0001t0018g0116	1	380	0.0026	32	c.15 others(43): Show c.1516_*1547dupGTTGAATGCATGTCAGGTAATGGTCTTGATTG	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding	6/6	2043	INFO_REALIGN_3_PRIME	chr3	TogoVar
SELENOT_chr3_150598321_150635436	150635000	G G	GAAGATTA others(25): Show GAAGATTATATGGAAAATGAAGATAATGAGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	380	0.0026	32	c.73 others(43): Show c.7371_*7372insAAGATTATATGGAAAATGAAGATAATGAGTTT	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		4565		chr3	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CATACACA others(25): Show CATACACACACACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0156 a0002c0003t0006g0156	1	266	0.0038	32	c.589 others(49): Show c.589+1277_589+1278insCTCTCTCTCTCTCTCTCTCTGTGTGTGT GTAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CATACACA others(25): Show CATACACACACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02155.hp2 NA19005.hp2 HG00642.hp1 HG02155.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0004 a0002c0002t0007 a0002c0003t0006 a0001c0001t0004 a0002c0002t0007 a0002c0003t0006	a0001c0001t0004g0174 a0002c0002t0007g0180 a0002c0003t0006g0232 a0001c0001t0004g0174 a0002c0002t0007g0180 a0002c0003t0006g0232	3	266	0.0113	32	c.589 others(49): Show c.589+1277_589+1278insCTCTCTCTCTCTCTCTCTCTCTGTGTGT GTAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83554977	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02886.hp2 NA19004.hp1 HG00438.hp2 HG02886.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0002 a0001c0005t0062 a0001c0002t0001 a0001c0003t0002 a0001c0005t0062	a0001c0002t0001g0091 a0001c0003t0002g0078 a0001c0005t0062g0063 a0001c0002t0001g0091 a0001c0003t0002g0078 a0001c0005t0062g0063	3	226	0.0133	32	c.116 others(51): Show c.116-64704_116-64703insATTTATTTATTTATTTATTTATTTAT TTATTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83554994	A A	AAATAAAT others(25): Show AAATAAATAAATAAATAAATAAATAAATGAATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0013 a0001c0006t0055 a0001c0005t0013 a0001c0006t0055	a0001c0005t0013g0057 a0001c0006t0055g0056 a0001c0005t0013g0057 a0001c0006t0055g0056	2	226	0.0089	32	c.116 others(51): Show c.116-64721_116-64720insCATTCATTTATTTATTTATTTATTTA TTTATT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617431	A A	AATAATTT others(25): Show AATAATTTTATATAAATTTTATATAAATAATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	226	0.0044	32	c.115 others(51): Show c.115+30965_115+30996dupATATTATTTATATAAAATTTATATAA AATTAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617510	A A	ATAATATA others(25): Show ATAATATATAATTTTATATAAATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02897.hp2 others(2): Show HG02055.hp1 HG02630.hp2 HG02897.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0007 a0001c0001 a0001c0005 a0003c0007	a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 others(2): Show a0001c0001t0024 a0001c0001t0037 a0001c0001t0038 a0001c0005t0039 a0003c0007t0036	a0001c0001t0024g0004 a0001c0001t0037g0003 a0001c0001t0038g0006 others(2): Show a0001c0001t0024g0004 a0001c0001t0037g0003 a0001c0001t0038g0006 a0001c0005t0039g0002 a0003c0007t0036g0007	5	226	0.0221	32	c.115 others(51): Show c.115+30886_115+30917dupCTTATATAAAATTTATATAAAATTAT ATATTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617606	G G	GTAATATA others(25): Show GTAATATATAATTTTATATAAATTTTATATAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00735.hp2 others(8): Show HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01928.hp1 HG02148.hp2 NA18951.hp2 NA18961.hp1 NA18983.hp2 NA18995.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0098 a0001c0002t0072 a0001c0003t0001 others(4): Show a0001c0001t0098 a0001c0002t0072 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0003t0079 a0002c0004t0032	a0001c0001t0098g0215 a0001c0002t0072g0083 a0001c0003t0001g0077 others(8): Show a0001c0001t0098g0215 a0001c0002t0072g0083 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0003t0020g0081 a0001c0003t0079g0076 a0002c0004t0032g0181	11	226	0.0487	32	c.115 others(51): Show c.115+30790_115+30821dupTTTATATAAAATTTATATAAAATTAT ATATTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89471595	T T	TGCCAGCT others(25): Show TGCCAGCTCAGGTGCACGCCAGCTCAGGTGCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02630.hp2 others(1): Show HG02055.hp2 HG02257.hp2 HG02630.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0001t0024 a0001c0013t0004 a0001c0001t0003 a0001c0001t0024 a0001c0013t0004	a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0024g0079 others(1): Show a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0024g0079 a0001c0013t0004g0081	4	370	0.0108	32	c.-30 others(53): Show c.-309-15643_-309-15642insGTGCACCTGAGCTGGCGTGCACCT GAGCTGGC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9088636	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0117 a0001c0001t0070g0117	1	134	0.0075	32	c.207 others(53): Show c.2073+19503_2073+19504insTATATATATATATATATATATATA TATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	134	0.0075	32	c.207 others(53): Show c.2073+19480_2073+19481insGTGTGTGTGTGTATATATATATAT ATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197728	T T	TTGTATGT others(25): Show TTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0044 a0001c0004t0005g0044	1	134	0.0075	32	c.933 others(47): Show c.933-426_933-425insCACACACACACACACACACACACACACATA CA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9305707	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0059 a0001c0001t0035g0059	1	134	0.0075	32	c.270 others(51): Show c.270+12664_270+12665insATATATATATATATATATATATATAT ATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9309897	C C	CAGATATA others(25): Show CAGATATAAGAGCCTAGAATCTGAGGAGAAATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG02040.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0021 a0002c0014 a0004c0019 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(67): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0039 a0001c0001t0056 a0001c0001t0066 a0001c0001t0068 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0002t0045 a0001c0002t0050 a0001c0002t0082 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0019 a0001c0003t0041 a0001c0003t0051 a0001c0003t0080 a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 a0001c0004t0062 a0001c0004t0069 a0001c0005t0001 a0001c0005t0042 a0001c0005t0048 a0001c0005t0052 a0001c0006t0001 a0001c0006t0007 a0001c0006t0014 a0001c0006t0021 a0001c0006t0058 a0001c0007t0003 a0001c0007t0016 a0001c0007t0017 a0001c0007t0025 a0001c0008t0001 a0001c0008t0004 a0001c0008t0027 a0001c0009t0002 a0001c0010t0075 a0001c0010t0076 a0001c0011t0037 a0001c0011t0073 a0001c0015t0008 a0001c0016t0038 a0001c0017t0074 a0001c0021t0020 a0002c0014t0057 a0004c0019t0059 a0005c0012t0029	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(86): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0008g0111 a0001c0001t0008g0122 a0001c0001t0011g0028 a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0014g0077 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0017g0091 a0001c0001t0019g0118 a0001c0001t0023g0017 a0001c0001t0024g0025 a0001c0001t0028g0006 a0001c0001t0033g0057 a0001c0001t0039g0072 a0001c0001t0056g0096 a0001c0001t0066g0106 a0001c0001t0068g0129 a0001c0001t0077g0101 a0001c0001t0078g0109 a0001c0001t0081g0133 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0099 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0002t0040g0058 a0001c0002t0045g0040 a0001c0002t0050g0013 a0001c0002t0082g0134 a0001c0003t0001g0027 a0001c0003t0002g0102 a0001c0003t0006g0047 a0001c0003t0006g0074 a0001c0003t0010g0048 a0001c0003t0019g0104 a0001c0003t0041g0016 a0001c0003t0051g0079 a0001c0003t0080g0132 a0001c0004t0001g0020 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0005g0044 a0001c0004t0010g0049 a0001c0004t0062g0114 a0001c0004t0069g0103 a0001c0005t0001g0005 a0001c0005t0001g0051 a0001c0005t0001g0054 a0001c0005t0042g0070 a0001c0005t0048g0022 a0001c0005t0052g0097 a0001c0006t0001g0024 a0001c0006t0001g0078 a0001c0006t0007g0088 a0001c0006t0014g0060 a0001c0006t0021g0001 a0001c0006t0058g0083 a0001c0007t0003g0063 a0001c0007t0016g0095 a0001c0007t0017g0084 a0001c0007t0025g0062 a0001c0008t0001g0046 a0001c0008t0004g0066 a0001c0008t0027g0035 a0001c0009t0002g0113 a0001c0010t0075g0107 a0001c0010t0076g0125 a0001c0011t0037g0065 a0001c0011t0073g0119 a0001c0015t0008g0112 a0001c0016t0038g0037 a0001c0017t0074g0105 a0001c0021t0020g0004 a0002c0014t0057g0087 a0004c0019t0059g0089 a0005c0012t0029g0055	89	134	0.6642	32	c.270 others(49): Show c.270+8474_270+8475insCATTTCTCCTCAGATTCTAGGCTCTTAT ATCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(25): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03654.hp1 HG01257.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0024 a0001c0006t0007 a0001c0001t0024 a0001c0006t0007	a0001c0001t0024g0025 a0001c0006t0007g0088 a0001c0001t0024g0025 a0001c0006t0007g0088	2	134	0.0149	32	c.125 others(51): Show c.125-15287_125-15286insTCCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579517	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01257.hp1 HG02129.hp1 others(6): Show HG00099.hp2 HG01257.hp1 HG02129.hp1 HG02451.hp1 HG02683.hp2 HG04199.hp2 NA18992.hp1 NA19060.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0032 a0002c0002t0075	a0001c0001t0001g0127 a0001c0001t0002g0229 a0001c0001t0002g0248 others(6): Show a0001c0001t0001g0127 a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0263 a0001c0001t0029g0235 a0001c0001t0029g0236 a0001c0001t0032g0294 a0002c0002t0075g0269	9	304	0.0296	32	c.-53 others(43): Show c.-5372_-5371insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4695		chr5	TogoVar
SEMA6D_chr15_47712505_47779228	47746984	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0115 a0002c0003t0011g0115	1	388	0.0026	32	c.-54 others(51): Show c.-54-12742_-54-12741insATATATATATATATATATATATATAT ATATAT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMG2_chr20_45216373_45229458	45225392	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18906.hp1 HG02258.hp2 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	2	362	0.0055	32	c.11 others(43): Show c.1146_*1147insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		935		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225520	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	362	0.0028	32	c.12 others(43): Show c.1274_*1275insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1063		chr20	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03516.hp2 HG04184.hp2 others(1): Show HG01106.hp1 HG03516.hp2 HG04184.hp2 NA19001.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0004c0008t0005	a0001c0001t0003g0206 a0001c0001t0004g0338 a0001c0001t0005g0301 others(1): Show a0001c0001t0003g0206 a0001c0001t0004g0338 a0001c0001t0005g0301 a0004c0008t0005g0336	4	394	0.0102	32	c.553 others(49): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	394	0.0025	32	c.553 others(49): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03490.hp1 NA18947.hp2 others(1): Show HG02886.hp2 HG03490.hp1 NA18947.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0079 a0001c0003t0008g0294	4	394	0.0102	32	c.553 others(49): Show c.553-3542_553-3541insGTGTATATATATATATATATATATATAT ATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG01516.hp2 others(14): Show HG01123.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG02004.hp1 HG02015.hp2 HG02129.hp1 HG02300.hp1 HG02615.hp2 HG02818.hp2 HG04115.hp2 HG04199.hp1 NA18951.hp2 NA18954.hp2 NA19007.hp2 NA19058.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0003g0208 a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0003g0272 a0001c0001t0005g0230 a0001c0001t0012g0102	17	394	0.0432	32	c.553 others(49): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0032 a0001c0001t0011g0032	1	306	0.0033	32	c.188 others(51): Show c.1885-8827_1885-8826insAAAAAAAAAAAAAATATATATATATA TATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP7_chr3_101319205_101518212	101489503	C C	CTCTTTTT others(25): Show CTCTTTTTTATATTCTTATATCAGATATCAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(59): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0002 a0001c0003t0002 a0001c0009t0002	a0001c0003t0002g0025 a0001c0003t0002g0120 a0001c0003t0002g0121 others(59): Show a0001c0003t0002g0025 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0284 a0001c0009t0002g0144 a0001c0009t0002g0151 a0001c0009t0002g0163	62	370	0.1676	32	c.186 others(49): Show c.186+4369_186+4370insATCTGATATCTGATATAAGAATATAAAA AAGA	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN11_chr4_76944752_77043615	77016629	T T	TATACACA others(25): Show TATACACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	370	0.0027	32	c.687 others(49): Show c.687+1613_687+1614insTACACATATATATATATATATATATATA TACA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN9_chr17_77276499_77505593	77484991	A A	ATGGGGTG others(25): Show ATGGGGTGATGGTAATGTGGGTGATGGTGATTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0007 a0002c0004t0022g0040 a0002c0004t0022g0007 a0002c0004t0022g0040	2	150	0.0133	32	c.914 others(49): Show c.914-2430_914-2429insGGTGATGGTAATGTGGGTGATGGTGATT GTGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484991	A A	ATGGGGTG others(25): Show ATGGGGTGATGGTAATGTGGGTGATGGTGATTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0129 a0002c0005t0011g0135 a0002c0005t0011g0129 a0002c0005t0011g0135	2	158	0.0127	32	c.860 others(49): Show c.860-2430_860-2429insGGTGATGGTAATGTGGGTGATGGTGATT GTGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01346.hp2 NA18957.hp2 HG01175.hp2 HG01346.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0163 a0001c0001t0005g0224 a0001c0001t0009g0064 a0001c0001t0002g0163 a0001c0001t0005g0224 a0001c0001t0009g0064	3	368	0.0082	32	c.92 others(43): Show c.9279_*9280insATATATATATATATATATATATTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02735.hp1 HG02809.hp1 others(2): Show HG00621.hp2 HG02735.hp1 HG02809.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 a0001c0001t0054 a0001c0001t0065	a0001c0001t0004g0005 a0001c0001t0007g0016 a0001c0001t0034g0041 others(2): Show a0001c0001t0004g0005 a0001c0001t0007g0016 a0001c0001t0034g0041 a0001c0001t0054g0179 a0001c0001t0065g0183	5	368	0.0136	32	c.92 others(43): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	368	0.0027	32	c.92 others(43): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar

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