Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTLC2_chr14_77500997_77621637	77569822	T T	TATATATA others(27): Show TATATATATATAATATACAATATTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01257.hp2 HG01258.hp2 others(3): Show HG00733.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0217 a0001c0001t0003g0117 a0001c0001t0003g0118 others(3): Show a0001c0001t0001g0217 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0168 a0001c0001t0003g0218 a0001c0001t0003g0219	6	246	0.0244	34	c.756 others(49): Show c.756+528_756+561dupTACATATATATAATATTGTATATTATATAT ATAT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01978.hp2 HG03491.hp1 HG01123.hp2 HG01978.hp2 HG03491.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 a0001c0005t0001 a0001c0005t0003 a0001c0005t0009	a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0009g0079 a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0009g0079	3	292	0.0103	34	c.118 others(53): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	344	0.0029	34	c.113 others(51): Show c.113-8236_113-8203dupACACACACACACACACACACACACACAC ACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01256.hp2 HG01346.hp1 others(8): Show HG00558.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG02015.hp2 HG02074.hp2 HG02615.hp1 HG04204.hp2 NA18962.hp2 NA19075.hp1 NA19087.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0002c0002t0001 a0006c0009t0001 a0001c0001t0001 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0078 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0207 a0002c0002t0001g0149 a0002c0002t0001g0201 a0002c0002t0001g0203 a0006c0009t0001g0120	11	340	0.0324	34	c.-92 others(43): Show c.-928_-927insTATATATATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATGTATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	340	0.0029	34	c.-92 others(43): Show c.-928_-927insTATATATATATATATATATATATATGTATATGTA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414666	A A	AGTGTATA others(27): Show AGTGTATATAGTATGTATATACACACACACATAGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	358	0.0028	34	c.233 others(53): Show c.2334-1407_2334-1374dupACTATGTGTGTGTGTATATACATACT ATATACAC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414937	T T	TTATATAG others(27): Show TTATATAGTATGTACATACACACACATATAGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	358	0.0028	34	c.233 others(53): Show c.2334-1678_2334-1645dupCACACTATATGTGTGTGTATGTACAT ACTATATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586915	T T	TAATTATT others(27): Show TAATTATTTTAAATTATAAATATTAAAATATTTAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0294 a0003c0003t0001g0294	1	358	0.0028	34	c.649 others(51): Show c.649-1175_649-1142dupTTAAATATTTTAATATTTATAATTTAAA ATAATT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(27): Show ATATTAAAATATTTAAAATTATTTTAAAATATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02280.hp2 HG01243.hp2 HG01891.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0186 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0186	3	358	0.0084	34	c.649 others(51): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0023 a0001c0007t0016g0023	1	386	0.0026	34	c.91 others(41): Show c.91_*92insATATATATATATATATATATATATATATATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0140 a0005c0008t0005g0140	1	352	0.0028	34	c.91+ others(49): Show c.91+7521_91+7522insATATATATATTTTTTTTTTTTTTTTTTTTT TTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01257.hp1 others(4): Show HG00099.hp1 HG01069.hp2 HG01257.hp1 HG01433.hp2 HG01891.hp2 HG02895.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0107 a0001c0001t0116 a0001c0001t0124 others(4): Show a0001c0001t0107 a0001c0001t0116 a0001c0001t0124 a0001c0002t0004 a0001c0002t0039 a0001c0002t0042 a0003c0005t0138	a0001c0001t0107g0054 a0001c0001t0116g0058 a0001c0001t0124g0107 others(4): Show a0001c0001t0107g0054 a0001c0001t0116g0058 a0001c0001t0124g0107 a0001c0002t0004g0056 a0001c0002t0039g0027 a0001c0002t0042g0153 a0003c0005t0138g0047	7	170	0.0412	34	c.490 others(51): Show c.490-3130_490-3129insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883561	G G	GGGGCAAA others(27): Show GGGGCAAAAAGCCGGGGCGGGCAAAAAGCCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0038 a0001c0001t0016g0038	1	56	0.0179	34	c.85 others(45): Show c.8598_*8599insGCCCCGGCTTTTTGCCCGCCCCGGCTTTTTGCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3726		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121387143	C C	CAGGAAGA others(27): Show CAGGAAGAAGTAGGGATAGGTCACTTAGTTTGCAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	274	0.0037	34	c.115 others(51): Show c.1159-489_1159-456dupGGAAGAAGTAGGGATAGGTCACTTAGTT TGCAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGN_chr10_69083103_69109805	69100987	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	410	0.0024	34	c.228 others(51): Show c.228-2883_228-2882insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG03041.hp1 others(1): Show HG02615.hp2 HG02630.hp2 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	4	396	0.0101	34	c.-34 others(51): Show c.-34+5364_-34+5365insAAAAAAAAAAAATATATATATATATATA TATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	396	0.0025	34	c.-34 others(51): Show c.-34+5364_-34+5365insAAAAAAAATATATATATATATATATATA TATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG03017.hp2 HG00735.hp2 HG01255.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0047	3	396	0.0076	34	c.-34 others(51): Show c.-34+5364_-34+5365insAAAAAATATATATATATATATATATATA TATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAT others(27): Show AAAAAAATATATATATATATATATATATAACATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	396	0.0025	34	c.-34 others(51): Show c.-34+5364_-34+5365insAAAAATATATATATATATATATATATAA CATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062734	T T	TATATATA others(27): Show TATATATATATAAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0312 a0001c0003t0001g0313 a0001c0003t0001g0312 a0001c0003t0001g0313	2	365	0.0055	34	c.562 others(51): Show c.562-1161_562-1160insTTTATATATATATATATATATTTTATAT ATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062734	T T	TATATATA others(27): Show TATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp2 HG06807.hp1 HG03453.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0304 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0304 a0001c0003t0001g0317 a0001c0003t0001g0318	3	365	0.0082	34	c.562 others(51): Show c.562-1161_562-1160insTTTATATATATATATATATTTTATATAT ATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062736	T T	TATATATA others(27): Show TATATATAAAATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	365	0.0027	34	c.562 others(51): Show c.562-1163_562-1162insTTTATATATATATATATATATATATTTT ATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062736	T T	TATATATA others(27): Show TATATATATAAAATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	365	0.0027	34	c.562 others(51): Show c.562-1163_562-1162insTTTATATATATATATATATATATTTTAT ATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062736	T T	TATATATA others(27): Show TATATATATATAAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0300 a0001c0003t0001g0300	1	365	0.0027	34	c.562 others(51): Show c.562-1163_562-1162insTTTATATATATATATATATATTTTATAT ATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	342	0.0029	34	c.478 others(51): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19079.hp1 HG02027.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0192 a0001c0001t0017g0191 a0001c0001t0003g0192 a0001c0001t0017g0191	2	318	0.0063	34	c.164 others(51): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02273.hp2 HG01192.hp2 HG02273.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0298 a0005c0005t0001g0299 a0001c0001t0001g0298 a0005c0005t0001g0299	2	352	0.0057	34	c.-28 others(45): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18954.hp1 NA18970.hp1 HG00423.hp1 NA18954.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244	3	352	0.0085	34	c.726 others(49): Show c.726-404_726-371dupATATATATATATATATATATATATATATAT ATAT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	416	0.0024	34	c.-27 others(45): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SRXN1_chr20_641615_658200	641977	G G	GGGAGGCC others(27): Show GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	422	0.0024	34	c.67 others(45): Show c.6736_*6737insACCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4637		chr20	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(27): Show TGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0026 a0001c0002t0009g0026	1	422	0.0024	34	c.66 others(45): Show c.6613_*6614insCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SS18L2_chr3_42585860_42601934	42598916	T T	TATCTATA others(27): Show TATCTATAGATCTACAGATATCTAGATATCTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	388	0.0026	34	c.44 others(45): Show c.4407_*4408insATCTATAGATCTACAGATATCTAGATATCTGTAG	SS18L2	ENSG00000008324.12	transcript	ENST00000011691.6	protein_coding		1983		chr3	TogoVar
SS18L2_chr3_42585860_42601934	42598916	T T	TATCTATA others(27): Show TATCTATAGATCTATAGATATCTAGATATCTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	388	0.0026	34	c.44 others(45): Show c.4407_*4408insATCTATAGATCTATAGATATCTAGATATCTGTAG	SS18L2	ENSG00000008324.12	transcript	ENST00000011691.6	protein_coding		1983		chr3	TogoVar
SS18L2_chr3_42585860_42601934	42598930	T T	TAGATATC others(27): Show TAGATATCTAGATATCTGTAGATCTATAGATCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02451.hp1 HG02630.hp1 others(11): Show HG01346.hp2 HG02451.hp1 HG02630.hp1 HG02818.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 NA18982.hp1 NA19083.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0005 a0001c0001t0003g0008	14	388	0.0361	34	c.44 others(45): Show c.4421_*4422insAGATATCTAGATATCTGTAGATCTATAGATCTAC	SS18L2	ENSG00000008324.12	transcript	ENST00000011691.6	protein_coding		1997		chr3	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 NA18950.hp1 NA18982.hp1 others(1): Show HG00408.hp1 NA18950.hp1 NA18982.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0012g0040 others(1): Show a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0012g0040 a0001c0001t0012g0051	4	206	0.0194	34	c.45 others(45): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	280	0.0036	34	c.366 others(51): Show c.366+4829_366+4830insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405319	A A	ATATATAT others(27): Show ATATATATGTATGTATTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18988.hp2 NA19000.hp2 others(1): Show HG02523.hp1 NA18988.hp2 NA19000.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0296 a0001c0005t0001g0297 a0001c0005t0001g0298 others(1): Show a0001c0005t0001g0296 a0001c0005t0001g0297 a0001c0005t0001g0298 a0001c0005t0001g0302	4	388	0.0103	34	c.-66 others(49): Show c.-66-815_-66-814insGAAAGAAAGAAAGAAAAAAATACATACATA TATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0013 a0020c0033t0001g0013	1	412	0.0024	34	c.138 others(51): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0117 a0003c0007t0002g0117	1	412	0.0024	34	c.138 others(51): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	412	0.0024	34	c.138 others(51): Show c.1387+451_1387+452insATATATATATATATATATATATATTTTT TTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0137 a0001c0013t0001g0137	1	412	0.0024	34	c.138 others(51): Show c.1387+451_1387+452insATATATATATATATATATATATTTTTTT TTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18990.hp1 NA18975.hp1 NA18990.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0136 a0001c0013t0001g0138 a0001c0013t0001g0136 a0001c0013t0001g0138	2	412	0.0049	34	c.138 others(51): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTTT TTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03669.hp2 HG02615.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0143 a0002c0002t0001g0196 a0001c0001t0001g0143 a0002c0002t0001g0196	2	344	0.0058	34	c.58 others(45): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133540708	C C	CAGACATA others(27): Show CAGACATATATATATACAGACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03098.hp2 HG02559.hp2 HG02630.hp2 HG03098.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0037 a0001c0003t0008 a0005c0009t0070 a0001c0001t0037 a0001c0003t0008 a0005c0009t0070	a0001c0001t0037g0067 a0001c0003t0008g0292 a0005c0009t0070g0250 a0001c0001t0037g0067 a0001c0003t0008g0292 a0005c0009t0070g0250	3	332	0.0090	34	c.-42 others(53): Show c.-429+5065_-429+5066insATATATATATATATGTCTGTATATAT ATATGTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540838	G G	GACATATA others(27): Show GACATATATATAGACATATATATAGACATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0034 a0001c0008t0034	a0001c0008t0034g0132 a0001c0008t0034g0132	1	332	0.0030	34	c.-42 others(53): Show c.-429+4935_-429+4936insATATATATGTCTATATATATGTCTAT ATATATGT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540922	T T	TATATATA others(27): Show TATATATAGACATATATATAGAGACATATATAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02257.hp2 HG01106.hp2 HG01884.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0017 a0002c0005 a0001c0004 a0001c0017 a0002c0005	a0001c0004t0003 a0001c0017t0035 a0002c0005t0003 a0001c0004t0003 a0001c0017t0035 a0002c0005t0003	a0001c0004t0003g0022 a0001c0017t0035g0006 a0002c0005t0003g0299 a0001c0004t0003g0022 a0001c0017t0035g0006 a0002c0005t0003g0299	3	332	0.0090	34	c.-42 others(53): Show c.-429+4851_-429+4852insGTCTATATATGTCTCTATATATATGT CTATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540922	T T	TATATATA others(27): Show TATATATAGACATATATATATAGACATATATAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01109.hp2 others(8): Show HG00099.hp1 HG00280.hp2 HG01109.hp2 HG01175.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01952.hp2 HG02735.hp1 HG02735.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0067	a0001c0001t0001g0190 a0001c0001t0001g0239 a0001c0001t0003g0157 others(8): Show a0001c0001t0001g0190 a0001c0001t0001g0239 a0001c0001t0003g0157 a0001c0003t0004g0170 a0001c0003t0004g0242 a0001c0003t0005g0032 a0001c0003t0005g0149 a0001c0003t0005g0191 a0001c0003t0005g0208 a0001c0003t0007g0222 a0001c0003t0067g0168	11	332	0.0331	34	c.-42 others(53): Show c.-429+4851_-429+4852insGTCTATATATGTCTATATATATATGT CTATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	332	0.0030	34	c.-42 others(53): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(27): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 HG01243.hp1 HG03098.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0004 a0004c0007t0017 a0001c0003t0004 a0004c0007t0017	a0001c0003t0004g0059 a0004c0007t0017g0013 a0001c0003t0004g0059 a0004c0007t0017g0013	2	332	0.0060	34	c.-42 others(53): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTATATAT ATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(27): Show TATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0304 a0001c0002t0077g0304	1	332	0.0030	34	c.-42 others(53): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTATATATATAT ATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar

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