Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Examples: 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
SCUBE1_chr22_43192280_43348372	43192590	A A	ATATGAGT others(45): Show ATATGAGTATATATATATACGTGTATATATATGTGTATATATATATACAC ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0026 a0002c0014t0026	a0002c0014t0026g0235 a0002c0014t0026g0235	1	280	0.0036	52	c.11 others(65): Show c.11406_*11407insCATGTGTATATATATATACACATATATATACA CGTATATATATATACTCATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4689		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43203360	G G	GTATATAT others(45): Show GTATATATATATATTTATATATATATTTATATATATATATTTATATATAT ATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0044 a0003c0007t0044	a0003c0007t0044g0210 a0003c0007t0044g0210	1	280	0.0036	52	c.63 others(61): Show c.636_*637insAATATATATATAAATATATATATATAAATATATATA TAAATATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	636		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280492	C C	CTCCCGTC others(45): Show CTCCCGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATC CTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0016 a0001c0004t0027g0016	1	280	0.0036	52	c.484 others(71): Show c.484+10553_484+10554insCAGGATGGGTGAGGGGAAGGGACAGG GGGATGGGTGAGGGGAAGGGACGGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280492	C C	CTCCTGTC others(45): Show CTCCTGTCCCTTCCCCTCACCCATCCCCCTGTCCCTTCCCCTCACCCATC CTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02486.hp1 HG02717.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0004 a0001c0004t0016 a0002c0002t0050 a0001c0004t0004 a0001c0004t0016 a0002c0002t0050	a0001c0004t0004g0078 a0001c0004t0016g0008 a0002c0002t0050g0204 a0001c0004t0004g0078 a0001c0004t0016g0008 a0002c0002t0050g0204	3	280	0.0107	52	c.484 others(71): Show c.484+10553_484+10554insCAGGATGGGTGAGGGGAAGGGACAGG GGGATGGGTGAGGGGAAGGGACAGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCYGR8_chr2_227740894_227751220	227749851	C C	CCTTCCTT others(45): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	457	0.0022	52	c.36 others(63): Show c.3631_*3632insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3632		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524863	G G	GCCCCCCC others(45): Show GCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCCATCCCCGCCCCTCCCT AGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0074 a0001c0007t0001g0074	1	278	0.0036	52	c.-29 others(61): Show c.-291_-290insCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCCATC CCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		219		chr11	TogoVar
SDK1_chr7_3296252_4274000	3723932	A A	ACACGTAC others(45): Show ACACGTACATATACATATACACGTGTATATACACGTACATATACATATAC ACG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03453.hp2 HG03471.hp1 others(1): Show HG01175.hp2 HG03453.hp2 HG03471.hp1 HG03710.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0040 a0003c0033 a0004c0057 others(1): Show a0001c0040 a0003c0033 a0004c0057 a0006c0006	a0001c0040t0001 a0003c0033t0002 a0004c0057t0013 others(1): Show a0001c0040t0001 a0003c0033t0002 a0004c0057t0013 a0006c0006t0001	a0001c0040t0001g0040 a0003c0033t0002g0103 a0004c0057t0013g0045 others(1): Show a0001c0040t0001g0040 a0003c0033t0002g0103 a0004c0057t0013g0045 a0006c0006t0001g0036	4	116	0.0345	52	c.713 others(71): Show c.713+81827_713+81828insCACGTACATATACATATACACGTGTA TATACACGTACATATACATATACACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	52	c.301 others(71): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTGTGTGTGTGT GTGTGTATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L1_chr17_77135969_77222101	77217225	A A	AAGAAGAG others(45): Show AAGAAGAGCTTTAGCTTGTGTGGGAGTGTTTCACAGGTGAGCGGTCCGGC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03139.hp1 HG02109.hp2 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0053 a0001c0001t0019g0107 a0001c0001t0019g0108 a0001c0001t0019g0053 a0001c0001t0019g0107 a0001c0001t0019g0108	3	430	0.0070	52	c.32 others(63): Show c.3202_*3203insAGAAGAGCTTTAGCTTGTGTGGGAGTGTTTCACA GGTGAGCGGTCCGGCCTC	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding		125		chr17	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	328	0.0031	52	c.296 others(69): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(45): Show ATATATATATATATGCGTATATATATACGCATATATATATATATATATAC GCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0004c0014t0001 a0001c0001t0001 a0004c0014t0001	a0001c0001t0001g0308 a0004c0014t0001g0307 a0001c0001t0001g0308 a0004c0014t0001g0307	2	328	0.0061	52	c.-5+ others(67): Show c.-5+2701_-5+2702insCGCGTATATATATATATATATATGCGTATA TATATACGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(45): Show ATATATATATATATGCGTATATATATACGCGTATATATATATATATATAC GCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	328	0.0031	52	c.-5+ others(67): Show c.-5+2701_-5+2702insCGCGTATATATATATATATATACGCGTATA TATATACGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13848503	G G	GAAGAAGA others(45): Show GAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAGAAGAAGAAGAAGG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	324	0.0031	52	c.98 others(61): Show c.981_*982insTCTCCTTCTTCTTCTTCTTCTTCTTCTCCTGCTTCT GCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		743		chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746504	C C	CTAAATAT others(45): Show CTAAATATATATATATATATATATTTAAATATATATATTCAAATGTATAT ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01515.hp2 HG03710.hp1 HG01106.hp1 HG01515.hp2 HG03710.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0023 a0001c0001 a0015c0023	a0001c0001t0002 a0015c0023t0002 a0001c0001t0002 a0015c0023t0002	a0001c0001t0002g0178 a0001c0001t0002g0230 a0015c0023t0002g0181 a0001c0001t0002g0178 a0001c0001t0002g0230 a0015c0023t0002g0181	3	312	0.0096	52	c.19 others(63): Show c.1920_*1921insAATATATACATTTGAATATATATATTTAAATATA TATATATATATATATTTA	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		928		chr4	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(45): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAGGAAAGGAAA GGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0079 a0001c0003t0051g0079	1	134	0.0075	52	c.125 others(71): Show c.125-15287_125-15286insTCCTTTCCTTTCCTTTCCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SENP7_chr3_101319205_101518212	101439789	C C	CGCCCGGC others(45): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCC CCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19054.hp2 NA18959.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0030 a0002c0002t0003g0360 a0002c0002t0003g0030 a0002c0002t0003g0360	2	370	0.0054	52	c.284 others(71): Show c.284+19165_284+19166insAGGGGGGCCGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SERAC1_chr6_158104519_158173262	158166630	T T	TTTTATTT others(45): Show TTTTATTTTTTTTATTTATTTTTTTTATTATTTTTTTTTTTTATTATATC GGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	366	0.0027	52	c.-2+ others(67): Show c.-2+1509_-2+1510insCCCGATATAATAAAAAAAAAAAATAATAAA AAAAATAAATAAAAAAAATAAA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	1/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169686	A A	ATATATAT others(45): Show ATATATATTATATAATATATTGTATATTATATATTATATAATATATTGTA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03831.hp2 others(3): Show HG01257.hp1 HG01258.hp2 HG03831.hp2 NA18970.hp1 NA19012.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0028 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0058 a0001c0001t0002g0224 a0001c0001t0002g0226	6	366	0.0164	52	c.-16 others(63): Show c.-1600_-1549dupATATACAATATATTATATAATATATAATATACAA TATATTATATAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169739	T T	TATATATT others(45): Show TATATATTATATAATATATTGTATATTATATATTATATAATATATTGTAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	366	0.0027	52	c.-16 others(63): Show c.-1602_-1601insTATATACAATATATTATATAATATATAATATACA ATATATTATATAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1478		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	368	0.0027	52	c.92 others(63): Show c.9279_*9280insATATATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(45): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0036 a0003c0004t0006 a0001c0001t0036 a0003c0004t0006	a0001c0001t0036g0136 a0003c0004t0006g0088 a0001c0001t0036g0136 a0003c0004t0006g0088	2	402	0.0050	52	c.304 others(67): Show c.304-519_304-518insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(45): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	290	0.0035	52	c.676 others(69): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD9_chr5_56904596_56922348	56918270	G G	GGGCGAGA others(45): Show GGGCGAGAGGGGCTAACGATGTGCCCCACCAGTGAACTGAACTTTTAAGA CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0024	52	c.13 others(63): Show c.1368_*1369insGGCGAGAGGGGCTAACGATGTGCCCCACCAGTGA ACTGAACTTTTAAGACCC	SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding		923		chr5	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(45): Show TATATATATTATATATATATATATATATATATATATATATATATATATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0263 a0001c0002t0013g0263	1	406	0.0025	52	c.-39 others(63): Show c.-3973_-3972insATATATATTATATATATATATATATATATATATA TATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441228	T T	TATATATA others(45): Show TATATATATATTATATATATATATATATAATATATATATATATATATTAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03130.hp2 others(1): Show HG02895.hp1 HG02897.hp1 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0015 a0001c0002t0004g0265 a0001c0002t0004g0266	4	406	0.0099	52	c.-39 others(63): Show c.-3971_-3970insATATATATATTATATATATATATATATAATATAT ATATATATATATTATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3045		chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	240	0.0042	52	c.95- others(69): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0184 a0002c0005t0004g0184	1	240	0.0042	52	c.240 others(69): Show c.2407+655_2407+656insGGAAGGAAGGAAGGAAGGGAGGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0188 a0001c0006t0004g0188	1	240	0.0042	52	c.240 others(69): Show c.2407+655_2407+656insGGAAGGAAGGAAGGGAGGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp1 HG02572.hp1 HG01169.hp1 HG01891.hp1 HG02572.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0007 a0001c0006t0009 a0003c0004t0004 a0001c0001t0007 a0001c0006t0009 a0003c0004t0004	a0001c0001t0007g0027 a0001c0006t0009g0165 a0003c0004t0004g0102 a0001c0001t0007g0027 a0001c0006t0009g0165 a0003c0004t0004g0102	3	240	0.0125	52	c.240 others(69): Show c.2407+655_2407+656insGGAAGGAAGGGAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG CGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	432	0.0023	52	c.819 others(67): Show c.819-108_819-107insGCGCGCGCGCGCACACACACACACACACAC ACACACACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCG CGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19009.hp2 HG02040.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0173 a0001c0002t0002g0167 a0001c0002t0001g0173 a0001c0002t0002g0167	2	432	0.0046	52	c.819 others(67): Show c.819-108_819-107insGCGCGCGCGCACACACACACACACACACAC ACACACACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG CGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	432	0.0023	52	c.819 others(67): Show c.819-108_819-107insGCGCGCGCACACACACACACACACACACAC ACACACACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN5_chr2_72937036_73076712	73047253	T T	TATATATA others(45): Show TATATATATATATATATATACACACATATATATATATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA20805.hp1 NA18954.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0101 a0001c0001t0008g0229 a0001c0001t0001g0101 a0001c0001t0008g0229	2	250	0.0080	52	c.172 others(69): Show c.172-6323_172-6322insGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGF29_chr16_28548920_28596790	28564555	A A	ATATATAT others(45): Show ATATATATATACGTATATATATACACGTATATATATACGTATATATATAC ACG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	346	0.0029	52	c.-16 others(71): Show c.-16+10495_-16+10496insGTATATATATACACGTATATATATAC GTATATATATACACGTATATATATAC	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGF29_chr16_28548920_28596790	28564777	A A	ATATGTAT others(45): Show ATATGTATATATATGTATATATATACATATATATGTATATATGTATATAT ATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp2 HG01255.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0002g0067 a0001c0001t0002g0080	2	346	0.0058	52	c.-16 others(71): Show c.-16+10683_-16+10684insGTATATATATGTATATATATACATAT ATATGTATATATGTATATATATGTAT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGIP1_chr1_66529153_66756139	66608987	T T	TGGTCACT others(45): Show TGGTCACTTATATCCCACAGGGATGAAGGTCACTTATATCCCACAGGGAT GAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp2 HG01346.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0183 a0001c0001t0014g0142 a0001c0001t0001g0183 a0001c0001t0014g0142	2	302	0.0066	52	c.11- others(69): Show c.11-16851_11-16800dupATATCCCACAGGGATGAAGGTCACTTAT ATCCCACAGGGATGAAGGTCACTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGMS1_chr10_50300600_50628956	50453841	G G	GGGAGGGA others(45): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGGAGAGGAGGGAGGGAGGGAGGGG AGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03704.hp2 HG03834.hp2 others(10): Show HG02970.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp2 NA18959.hp2 NA18995.hp1 NA19003.hp1 NA19058.hp2 NA19065.hp1 NA19077.hp1 NA19082.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0002g0075 others(10): Show a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0002g0075 a0001c0001t0012g0213 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0131 a0001c0002t0001g0201 a0001c0002t0002g0300	13	312	0.0417	52	c.-31 others(71): Show c.-313+6831_-313+6832insTCTCCCCTCCCTCCCTCCCTCCTCTC CCCTCCCTCCCTCCCTCCCTCCCTCC	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	5/10			chr10	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18944.hp2 NA18989.hp2 others(1): Show HG02080.hp2 NA18944.hp2 NA18989.hp2 NA19089.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0044 a0011c0027 a0001c0001 a0002c0044 a0011c0027	a0001c0001t0001 a0001c0001t0002 a0002c0044t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0044t0003 a0011c0027t0001	a0001c0001t0001g0242 a0001c0001t0002g0241 a0002c0044t0003g0243 others(1): Show a0001c0001t0001g0242 a0001c0001t0002g0241 a0002c0044t0003g0243 a0011c0027t0001g0240	4	422	0.0095	52	c.57+ others(67): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGTA_chr19_2749715_2788273	2765288	A A	ACAGGGAG others(45): Show ACAGGGAGAGAGGAAAACACCGGCCCGGTGTCCACACAGACCCGAGGGGG TGT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02630.hp2 HG02809.hp1 others(7): Show HG02451.hp1 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0018 a0001c0003t0005 a0001c0003t0018	a0001c0003t0005g0008 a0001c0003t0005g0331 a0001c0003t0005g0332 others(4): Show a0001c0003t0005g0008 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0334 a0001c0003t0005g0335 a0001c0003t0018g0181	10	396	0.0253	52	c.293 others(63): Show c.293-4_293-3insACACCCCCTCGGGTCTGTGTGGACACCGGGCCGG TGTTTTCCTCTCTCCCTG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	4/11			chr19	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(45): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA18522.hp2 HG02970.hp1 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0103 a0003c0004t0004g0104 a0003c0004t0004g0103 a0003c0004t0004g0104	2	424	0.0047	52	c.-44 others(63): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(45): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	436	0.0023	52	c.63+ others(67): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTATCCTA others(45): Show CTATCCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC TAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0094 a0001c0002t0094	a0001c0002t0094g0232 a0001c0002t0094g0232	1	280	0.0036	52	c.101 others(71): Show c.1013-1323_1013-1322insATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGATAGATAGGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348671	C C	CTATCTAT others(45): Show CTATCTATCTATCTTATCTTATCTATCTATCTATCTATCTATCTATCTTA TCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0040 a0007c0015t0040	a0007c0015t0040g0149 a0007c0015t0040g0149	1	280	0.0036	52	c.101 others(71): Show c.1013-1340_1013-1339insAGATAAGATAGATAGATAGATAGATA GATAGATAAGATAAGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(45): Show ATATATATATATAAAATATATATATATTATATATATATATAAAATATATA TAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp2 HG01258.hp2 others(5): Show HG00099.hp1 HG01255.hp2 HG01258.hp2 HG03654.hp2 NA18939.hp2 NA18999.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0057 a0001c0003t0049	a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0002g0186 others(5): Show a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0002g0186 a0001c0001t0004g0219 a0001c0001t0004g0226 a0001c0001t0007g0121 a0001c0001t0057g0173 a0001c0003t0049g0042	8	280	0.0286	52	c.427 others(69): Show c.427+5291_427+5292insATATATATATTTTATATATATATATAAT ATATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(45): Show ATATATATATATATAAAATATATATATTATATATATATATAAAATATATA TAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00741.hp2 others(8): Show HG00408.hp1 HG00423.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG03017.hp1 NA18943.hp2 NA19012.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0015 a0001c0001 a0001c0003 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0056 a0001c0003t0054 a0007c0015t0040	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 others(8): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0009g0156 a0001c0001t0056g0064 a0001c0003t0054g0163 a0007c0015t0040g0149	11	280	0.0393	52	c.427 others(69): Show c.427+5291_427+5292insATATATATATTTTATATATATATATAAT ATATATATTTTATATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(45): Show ATATATATATATATAAAATATATATATTATATATATATATAATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	280	0.0036	52	c.427 others(69): Show c.427+5291_427+5292insATATATATATATTATATATATATATAAT ATATATATTTTATATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	T T	TAAATAAG others(45): Show TAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATTTA AAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp2 others(17): Show HG00140.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp1 HG03704.hp2 HG03710.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0006t0003 a0001c0010t0026 a0002c0003t0004 a0002c0003t0021 a0004c0008t0003	a0001c0001t0001g0096 a0001c0002t0001g0088 a0001c0002t0001g0089 others(17): Show a0001c0001t0001g0096 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0002g0099 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0004g0092 a0001c0002t0006g0094 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0102 a0001c0002t0008g0103 a0001c0006t0003g0034 a0001c0010t0026g0100 a0002c0003t0004g0095 a0002c0003t0004g0205 a0002c0003t0021g0207 a0004c0008t0003g0057	20	216	0.0926	52	c.394 others(71): Show c.394-21654_394-21603dupTTTTAAATAAGCATAGTTGCTTATTT TTTTAAATAAGCATAGTTGCTTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SHISA5_chr3_48462876_48509174	48486310	A A	AATATATA others(45): Show AATATATAATACATTATATGTTATATAACATAATGTATTATATATTATAT ATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	290	0.0035	52	c.234 others(69): Show c.234-7054_234-7053insAATATATAATATATAATACATTATGTTA TATAACATATAATGTATTATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13071557	T T	TTTCCTTC others(45): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT CCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp2 HG02647.hp1 others(9): Show HG01261.hp1 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0001t0053 a0001c0001t0064 a0001c0001t0065	a0001c0001t0004g0080 a0001c0001t0005g0035 a0001c0001t0006g0079 others(9): Show a0001c0001t0004g0080 a0001c0001t0005g0035 a0001c0001t0006g0079 a0001c0001t0006g0083 a0001c0001t0009g0214 a0001c0001t0013g0016 a0001c0001t0013g0122 a0001c0001t0020g0047 a0001c0001t0028g0137 a0001c0001t0053g0055 a0001c0001t0064g0112 a0001c0001t0065g0056	12	214	0.0561	52	c.692 others(73): Show c.692-131824_692-131823insTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTCCCTTCCTTCCTTCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13198202	A A	ATGTGTGT others(45): Show ATGTGTGTATATGCATACATATATACTTGTGTGTATATGCATACATATAT ACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG03453.hp1 others(2): Show HG02055.hp1 HG02630.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0063 a0001c0001t0076	a0001c0001t0004g0080 a0001c0001t0006g0079 a0001c0001t0013g0016 others(2): Show a0001c0001t0004g0080 a0001c0001t0006g0079 a0001c0001t0013g0016 a0001c0001t0063g0138 a0001c0001t0076g0108	5	214	0.0234	52	c.692 others(69): Show c.692-5084_692-5033dupGTGTATATGCATACATATATACTTGTGT GTATATGCATACATATATACTTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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