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
S100Z_chr5_76845014_76926650	76906985	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	348	0.0029	36	c.3- others(53): Show c.3-13699_*3-13698insCACATATATATATATATATATATATATA TATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA19090.hp2 NA18972.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	474	0.0042	36	c.-33 others(47): Show c.-3377_-3376insAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0062 a0001c0007t0001g0062	1	474	0.0021	36	c.-33 others(47): Show c.-3377_-3376insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGA AG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18082518	T T	TTAAATTA others(29): Show TTAAATTATATAAATTTAATATATATATAATTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG01884.hp1 others(5): Show HG00639.hp1 HG01496.hp1 HG01884.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	8	284	0.0282	36	c.123 others(55): Show c.1239+1016_1240-1015insTATATAATTATATATATATTAAATTT ATATAATTTA	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding	10/11			chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0175 a0001c0002t0005g0175	1	354	0.0028	36	c.-28 others(47): Show c.-2803_-2802insTATATATATATATATATATATATATATATTTTTT TT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	354	0.0028	36	c.-28 others(47): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTTTT TT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18944.hp1 HG00423.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0157 a0001c0002t0003g0168 a0001c0002t0003g0157 a0001c0002t0003g0168	2	354	0.0057	36	c.-28 others(47): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTTTTT TT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAE1_chr19_47125835_47215636	47126649	T T	TCCGCCCG others(29): Show TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	380	0.0026	36	c.-42 others(47): Show c.-4282_-4281insCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTA CA	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding		4185		chr19	TogoVar
SAFB2_chr19_5581999_5627776	5584937	T T	TCACTTGA others(29): Show TCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	350	0.0029	36	c.23 others(47): Show c.2305_*2306insTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAG TG	SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding		2061		chr19	TogoVar
SAMD4A_chr14_54562128_54798312	54723999	T T	TGGAAGGA others(29): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	262	0.0038	36	c.716 others(55): Show c.716-13022_716-13021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(29): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01192.hp1 others(14): Show HG00408.hp1 HG00738.hp2 HG01192.hp1 HG02056.hp1 HG02083.hp1 HG02970.hp2 HG03669.hp2 HG03710.hp1 HG04115.hp1 NA18747.hp2 NA18950.hp1 NA18970.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19010.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0023 a0001c0001t0006 a0001c0001t0023	a0001c0001t0006g0001 a0001c0001t0006g0016 a0001c0001t0006g0162 others(14): Show a0001c0001t0006g0001 a0001c0001t0006g0016 a0001c0001t0006g0162 a0001c0001t0006g0168 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0229 a0001c0001t0006g0238 a0001c0001t0006g0241 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0023g0139 a0001c0001t0023g0144 a0001c0001t0023g0146	17	340	0.0500	36	c.25 others(47): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG03139.hp2 others(4): Show HG02257.hp1 HG02572.hp2 HG03139.hp2 HG03195.hp2 HG03688.hp1 HG03834.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036	a0001c0001t0030g0268 a0001c0001t0030g0277 a0001c0001t0030g0282 others(4): Show a0001c0001t0030g0268 a0001c0001t0030g0277 a0001c0001t0030g0282 a0001c0001t0035g0221 a0001c0001t0035g0257 a0001c0001t0036g0248 a0001c0001t0036g0253	7	340	0.0206	36	c.25 others(47): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(29): Show GCGCGCGCACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	36	c.-89 others(45): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(29): Show GCGCGCGCGCGCACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	36	c.-89 others(45): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03516.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0036 a0001c0011t0022 a0001c0001t0036 a0001c0011t0022	a0001c0001t0036g0134 a0001c0011t0022g0126 a0001c0001t0036g0134 a0001c0011t0022g0126	2	414	0.0048	36	c.-20 others(45): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0256 a0001c0001t0013g0256	1	360	0.0028	36	c.995 others(51): Show c.995-649_995-648insAAAAAAAAAAAAAATATATATATATATATA TATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	360	0.0028	36	c.995 others(51): Show c.995-649_995-648insAAAAAAAAAAAAAAAAAATATATATATATA TATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	402	0.0025	36	c.137 others(53): Show c.137-4689_137-4688insTATATATATATATATATATATATATATA TATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS2_chr19_38910266_38935763	38918407	C C	CACACAGG others(29): Show CACACAGGTCCTCACCTGCAAGCCCCACCTCCGCTGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	420	0.0024	36	c.895 others(46): Show c.895_916+14dupACAGCGGAGGTGGGGCTTGCAGGTGAGGACCTGTG T	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	9/15			chr19	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(29): Show GTGCGCACGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00738.hp1 others(3): Show HG00323.hp1 HG00544.hp2 HG00738.hp1 HG01099.hp2 HG02970.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 a0001c0013t0001 a0002c0002t0002 a0002c0005t0035	a0001c0001t0001g0101 a0001c0001t0007g0304 a0001c0001t0025g0005 others(3): Show a0001c0001t0001g0101 a0001c0001t0007g0304 a0001c0001t0025g0005 a0001c0013t0001g0164 a0002c0002t0002g0141 a0002c0005t0035g0148	6	322	0.0186	36	c.157 others(55): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 NA18966.hp2 HG00423.hp1 HG00544.hp2 NA18966.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0008 a0001c0001 a0002c0002 a0004c0008	a0001c0001t0001 a0002c0002t0001 a0004c0008t0003 a0001c0001t0001 a0002c0002t0001 a0004c0008t0003	a0001c0001t0001g0101 a0002c0002t0001g0187 a0004c0008t0003g0068 a0001c0001t0001g0101 a0002c0002t0001g0187 a0004c0008t0003g0068	3	322	0.0093	36	c.157 others(53): Show c.157-2477_157-2442dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	G G	GAAGGAAG others(29): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0109 a0002c0002t0003g0109	1	322	0.0031	36	c.286 others(55): Show c.286-19035_286-19034insGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0074 a0001c0002t0017g0074	1	352	0.0028	36	c.48 others(47): Show c.4811_*4812insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SAXO1_chr9_18922650_19038209	18938830	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18944.hp2 NA18989.hp2 others(4): Show HG02602.hp1 NA18944.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA19009.hp2 NA19080.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0011 a0003c0003 a0013c0011	a0003c0003t0003 a0003c0003t0005 a0013c0011t0003 others(1): Show a0003c0003t0003 a0003c0003t0005 a0013c0011t0003 a0013c0011t0005	a0003c0003t0003g0179 a0003c0003t0005g0169 a0003c0003t0005g0170 others(4): Show a0003c0003t0003g0179 a0003c0003t0005g0169 a0003c0003t0005g0170 a0003c0003t0005g0198 a0003c0003t0005g0218 a0013c0011t0003g0168 a0013c0011t0005g0167	7	364	0.0192	36	c.421 others(53): Show c.421+2806_421+2807insTACACACACACACACACACACACATACA CACACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	224	0.0045	36	c.56- others(51): Show c.56-2880_56-2879insAAAATATATATATATATATATATATATATA TATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0215 a0002c0002t0004g0215	1	224	0.0045	36	c.56- others(51): Show c.56-2880_56-2879insAAAAAAAAAATATATATATATATATATATA TATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK2_chr19_55523611_55542133	55537398	G G	GCCTCCTC others(29): Show GCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01952.hp1 others(5): Show HG01257.hp2 HG01258.hp2 HG01952.hp1 HG02071.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG03579.hp2	a0000 a0001 a0003 others(2): Show a0000 a0001 a0003 a0005 a0011	a0000c0003 a0001c0001 a0003c0005 others(2): Show a0000c0003 a0001c0001 a0003c0005 a0005c0009 a0011c0014	a0000c0003t0038 a0001c0001t0002 a0001c0001t0017 others(4): Show a0000c0003t0038 a0001c0001t0002 a0001c0001t0017 a0001c0001t0032 a0003c0005t0005 a0005c0009t0042 a0011c0014t0007	a0000c0003t0038g0205 a0001c0001t0002g0106 a0001c0001t0017g0013 others(4): Show a0000c0003t0038g0205 a0001c0001t0002g0106 a0001c0001t0017g0013 a0001c0001t0032g0112 a0003c0005t0005g0182 a0005c0009t0042g0155 a0011c0014t0007g0193	8	434	0.0184	36	c.-34 others(45): Show c.-348_-347insGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		266		chr19	TogoVar
SBK2_chr19_55523611_55542133	55537545	G G	GCCTCCTC others(29): Show GCCTCCTCCCTCAGACCCAGGAGTCTAGACCCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19077.hp1 NA19009.hp2 NA19077.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0001 a0001c0001t0001 a0000c0003t0001 a0001c0001t0001	a0000c0003t0001g0235 a0001c0001t0001g0006 a0000c0003t0001g0235 a0001c0001t0001g0006	2	434	0.0046	36	c.-49 others(45): Show c.-495_-494insGGCTGGGGTCTAGACTCCTGGGTCTGAGGGAGGAGG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		413		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537398	G G	GCCTCCTC others(29): Show GCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01952.hp2 others(5): Show HG01257.hp1 HG01258.hp1 HG01952.hp2 HG02071.hp1 HG02615.hp1 HG02630.hp2 HG02886.hp1 HG03579.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0006 a0003c0004 others(1): Show a0001c0002 a0001c0006 a0003c0004 a0007c0012	a0001c0002t0001 a0001c0006t0003 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0006t0003 a0003c0004t0001 a0007c0012t0001	a0001c0002t0001g0002 a0001c0006t0003g0019 a0003c0004t0001g0013 others(1): Show a0001c0002t0001g0002 a0001c0006t0003g0019 a0003c0004t0001g0013 a0007c0012t0001g0045	8	438	0.0183	36	c.34 others(47): Show c.3447_*3448insGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGA GG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3257		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537545	G G	GCCTCCTC others(29): Show GCCTCCTCCCTCAGACCCAGGAGTCTAGACCCCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19064.hp1 NA19077.hp2 NA19009.hp2 NA19064.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	438	0.0069	36	c.33 others(47): Show c.3300_*3301insGGCTGGGGTCTAGACTCCTGGGTCTGAGGGAGGA GG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3110		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1157889	T T	TCTCTCTC others(29): Show TCTCTCTCCTGAGTCCGGATAACTGTCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0180 a0001c0006t0001g0180	1	203	0.0049	36	c.-12 others(55): Show c.-126-3523_-126-3488dupCTGGGAGGCGGACAGTTATCCGGACT CAGGAGAGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18994.hp1 HG00438.hp2 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0006 a0001c0003t0001g0008	2	450	0.0044	36	c.31 others(47): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	450	0.0022	36	c.31 others(47): Show c.3136_*3137insGTATATATATATATATATATATATATATATATAT AT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SBSN_chr19_35518367_35533311	35532460	G G	GTTTGTGG others(29): Show GTTTGTGGGCTGGACGCAGTGGCTCATGCCCTGTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0023 a0001c0010t0001g0023	1	450	0.0022	36	c.-41 others(47): Show c.-4180_-4179insATTACAGGGCATGAGCCACTGCGTCCAGCCCACA AA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		4150		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(29): Show TACACACACACACATATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0006 a0003c0004t0002g0006	1	382	0.0026	36	c.15 others(47): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC AC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78460770	T T	TTCCCTCC others(29): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG03540.hp2 HG02615.hp1 HG02886.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0127 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0127 a0001c0001t0006g0134 a0001c0001t0006g0135	3	332	0.0090	36	c.852 others(53): Show c.852+1411_852+1412insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	332	0.0030	36	c.852 others(53): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0224 a0001c0001t0041g0224	1	332	0.0030	36	c.852 others(53): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	332	0.0030	36	c.852 others(53): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0263 a0012c0025t0002g0263	1	312	0.0032	36	c.331 others(55): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	312	0.0032	36	c.295 others(57): Show c.2954+16144_2954+16145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0003 a0033 a0003 a0033	a0003c0027 a0033c0035 a0003c0027 a0033c0035	a0003c0027t0007 a0033c0035t0011 a0003c0027t0007 a0033c0035t0011	a0003c0027t0007g0124 a0033c0035t0011g0051 a0003c0027t0007g0124 a0033c0035t0011g0051	2	434	0.0046	36	c.196 others(53): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT ATATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0108 a0004c0021t0003g0108	1	434	0.0023	36	c.196 others(53): Show c.1969+327_1969+328insATATATATATATATATATATATATATTT TTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAC others(29): Show TGATAGACAGACAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG06807.hp2 NA18946.hp2 others(1): Show HG02055.hp2 HG06807.hp2 NA18946.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0045 a0001c0001t0002g0097 a0001c0001t0002g0127 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0097 a0001c0001t0002g0127 a0001c0001t0003g0078	4	210	0.0191	36	c.570 others(55): Show c.570-16854_570-16853insTATCTATCTATCTATCTATCTATCTG TCTGTCTATC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77637321	T T	TATATATA others(29): Show TATATATACATATATAAACATATATACATATATAAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	356	0.0028	36	c.183 others(53): Show c.1838+163_1838+198dupCATATATACATATATAAACATATATACA TATATAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD1_chr14_30617319_30740850	30625605	G G	GTATAGGT others(29): Show GTATAGGTATACCTATATAGGTATAGGTATATAGGCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	328	0.0031	36	c.62- others(51): Show c.62-2533_62-2498dupCATATAGGTATACCTATATAGGTATAGGTA TATAGG	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02818.hp1 HG02897.hp1 others(3): Show HG01433.hp2 HG02818.hp1 HG02897.hp1 HG03704.hp1 NA18612.hp2 NA18941.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0003c0008	a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 a0003c0008t0008	a0001c0001t0002g0139 a0001c0001t0004g0014 a0001c0005t0001g0038 others(3): Show a0001c0001t0002g0139 a0001c0001t0004g0014 a0001c0005t0001g0038 a0001c0005t0003g0046 a0001c0007t0001g0029 a0003c0008t0008g0148	6	162	0.0370	36	c.156 others(55): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02135.hp2 HG00140.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0288 a0001c0001t0005g0283 a0001c0001t0001g0288 a0001c0001t0005g0283	2	402	0.0050	36	c.120 others(55): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp1 NA18962.hp2 HG01109.hp2 HG02818.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0318 a0001c0002t0001g0130 a0001c0001t0001g0129 a0001c0001t0001g0318 a0001c0002t0001g0130	3	415	0.0072	36	c.226 others(55): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1A1_chr11_62414033_62428195	62415764	G G	GTTTGTTT others(29): Show GTTTGTTTGTTTGTTTGTTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	448	0.0022	36	c.-33 others(47): Show c.-3332_-3331insTTTGTTTGTTTGTTTGTTTATTTATTTATTTATT TA	SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding		3268		chr11	TogoVar

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Search Results (Total: 8848 hits)