Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLCO4A1_chr20_62637503_62677293	62666130	C C	CCTTCCCC others(25): Show CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0013 a0013	a0013c0035 a0013c0035	a0013c0035t0003 a0013c0035t0003	a0013c0035t0003g0194 a0013c0035t0003g0194	1	432	0.0023	32	c.127 others(49): Show c.1277-224_1277-223insTCCCCTCTTCCCCTTCCCCTTCCCCTTC CCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO5A1_chr8_69662046_69839978	69784811	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0152 a0001c0001t0043g0152	1	280	0.0036	32	c.908 others(51): Show c.908-22968_908-22937dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO5A1_chr8_69662046_69839978	69784848	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0222 a0002c0002t0016g0222	1	280	0.0036	32	c.908 others(51): Show c.908-22974_908-22973insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLCO6A1_chr5_102366774_102504001	102383094	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	342	0.0029	32	c.201 others(51): Show c.2017+5593_2017+5594insTATATATATATATATATATATATATA TACACA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(25): Show TATATATAAAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	342	0.0029	32	c.113 others(51): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTTT ATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0257 a0002c0003t0001g0257	1	342	0.0029	32	c.113 others(51): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATATAT ATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35552659	T T	TATACACA others(25): Show TATACACATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18951.hp1 NA18953.hp2 others(2): Show NA18747.hp2 NA18951.hp1 NA18953.hp2 NA19009.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0001t0037g0069 a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0001t0037g0069	5	428	0.0117	32	c.190 others(47): Show c.1904+70_1904+71insGTATATATATATGTGTATATATATATGTGT AT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding	5/5			chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561741	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0008 a0020c0028t0008	a0020c0028t0008g0051 a0020c0028t0008g0051	1	428	0.0023	32	c.-10 others(43): Show c.-1099_-1098insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		923		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0048 a0002c0016t0002g0048	1	428	0.0023	32	c.-11 others(43): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0129 a0002c0002t0034g0129	1	428	0.0023	32	c.-11 others(43): Show c.-1107_-1106insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIRP_chr14_77703103_77722598	77721880	T T	TGGGGGGG others(25): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	32	c.43 others(43): Show c.4319_*4320insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	SLIRP	ENSG00000119705.10	transcript	ENST00000557342.6	protein_coding		4283		chr14	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19087.hp2 HG00438.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0154 a0001c0004t0001g0210 a0001c0001t0001g0154 a0001c0004t0001g0210	2	256	0.0078	32	c.198 others(49): Show c.198-1711_198-1680dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0033 a0001c0005t0033	a0001c0005t0033g0134 a0001c0005t0033g0134	1	230	0.0044	32	c.395 others(51): Show c.395+38282_395+38283insCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01123.hp1 others(11): Show HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01361.hp1 HG01516.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG03017.hp2 HG04184.hp2 NA18944.hp2 NA18964.hp1 NA19010.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0006 a0001c0008t0001	a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0101 a0001c0001t0005g0095 a0001c0001t0005g0163 a0001c0001t0006g0082 a0001c0001t0006g0127 a0001c0001t0020g0096 a0001c0002t0001g0109 a0001c0002t0003g0139 a0001c0002t0009g0102 a0001c0003t0006g0141 a0001c0008t0001g0138	14	230	0.0609	32	c.395 others(51): Show c.395+38282_395+38283insCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472317	T T	TATATAGA others(25): Show TATATAGATATATATCTATATATCGATATATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG01106.hp2 HG02717.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0024 a0001c0001 a0001c0002 a0001c0024	a0001c0001t0027 a0001c0002t0016 a0001c0002t0026 others(1): Show a0001c0001t0027 a0001c0002t0016 a0001c0002t0026 a0001c0024t0004	a0001c0001t0027g0033 a0001c0002t0016g0126 a0001c0002t0026g0011 others(1): Show a0001c0001t0027g0033 a0001c0002t0016g0126 a0001c0002t0026g0011 a0001c0024t0004g0211	4	230	0.0174	32	c.467 others(49): Show c.467+4499_467+4500insGATATATATCTATATATCGATATATAGA TATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168884549	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0039 a0001c0006t0002g0039	1	132	0.0076	32	c.414 others(49): Show c.414-1245_414-1214dupATATATATATATATATATATATATATAT ATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCGC others(25): Show GCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0111 a0002c0002t0036g0111	1	132	0.0076	32	c.414 others(51): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0035 a0001c0009t0012g0035	1	132	0.0076	32	c.414 others(51): Show c.414-89033_414-89002dupCACACACACACACACACACACACACA CACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079625	A A	AGAGGAGG others(25): Show AGAGGAGGAGGGAAGAGGAGGAGGAGGGAAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03139.hp2 others(2): Show HG02896.hp2 HG02897.hp2 HG03139.hp2 NA18974.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0010 a0002c0011 a0003c0033 others(1): Show a0001c0010 a0002c0011 a0003c0033 a0004c0039	a0001c0010t0008 a0002c0011t0005 a0003c0033t0007 others(1): Show a0001c0010t0008 a0002c0011t0005 a0003c0033t0007 a0004c0039t0006	a0001c0010t0008g0068 a0002c0011t0005g0065 a0002c0011t0005g0075 others(2): Show a0001c0010t0008g0068 a0002c0011t0005g0065 a0002c0011t0005g0075 a0003c0033t0007g0108 a0004c0039t0006g0087	5	132	0.0379	32	c.413 others(53): Show c.413+113822_413+113853dupCTCTTCCCTCCTCCTCCTCTTCCC TCCTCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145816461	A A	AAACTCTG others(25): Show AAACTCTGTACATCTTCATAATATAAGATTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0051 a0004c0010t0002g0051	1	326	0.0031	32	c.-23 others(43): Show c.-2358_-2357insAACTCTGTACATCTTCATAATATAAGATTGCC	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		1367		chrX	TogoVar
SLITRK2_chrX_145812829_145834856	145817749	C C	CCCTCCCT others(25): Show CCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	326	0.0031	32	c.-10 others(43): Show c.-1070_-1069insCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCT	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		79		chrX	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	414	0.0024	32	c.-13 others(43): Show c.-1340_-1339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	310	0.0032	32	c.123 others(51): Show c.1238-1976_1238-1975insTATATATATATATATATATATATATA TATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(25): Show CTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	310	0.0032	32	c.150 others(51): Show c.1502-1576_1502-1575insCTTTTTCTTTTTCTTTTTTTTTTTTT TTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(25): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18977.hp1 NA19000.hp2 others(2): Show NA18968.hp1 NA18977.hp1 NA19000.hp2 NA19012.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0066 others(2): Show a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0286	5	310	0.0161	32	c.150 others(51): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18951.hp1 NA18999.hp2 HG03834.hp2 NA18951.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0244 a0001c0002t0001g0248 a0001c0002t0001g0236 a0001c0002t0001g0244 a0001c0002t0001g0248	3	310	0.0097	32	c.150 others(51): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19003.hp2 HG02895.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0343 a0001c0002t0001g0080 a0001c0001t0002g0343 a0001c0002t0001g0080	2	386	0.0052	32	c.299 others(51): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850232	T T	TTATATAT others(25): Show TTATATATTATATATTATATATATTATGTATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02451.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG02451.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0173 a0001c0001t0189 others(1): Show a0001c0001t0032 a0001c0001t0173 a0001c0001t0189 a0001c0001t0193	a0001c0001t0032g0003 a0001c0001t0173g0033 a0001c0001t0189g0018 others(1): Show a0001c0001t0032g0003 a0001c0001t0173g0033 a0001c0001t0189g0018 a0001c0001t0193g0032	4	310	0.0129	32	c.784 others(49): Show c.784+1010_784+1041dupTTATACATAATATATATAATATATAATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850583	A A	ATATATAT others(25): Show ATATATATTATATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG02273.hp2 others(8): Show HG00438.hp1 HG00735.hp2 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG03490.hp1 HG03704.hp2 NA18949.hp1 NA19004.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 others(7): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 a0001c0001t0052 a0001c0001t0061 a0001c0001t0065 a0001c0001t0084 a0001c0001t0104 a0001c0001t0116 a0001c0001t0130	a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0015g0216 others(8): Show a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0015g0216 a0001c0001t0034g0258 a0001c0001t0052g0277 a0001c0001t0061g0268 a0001c0001t0065g0197 a0001c0001t0084g0270 a0001c0001t0104g0215 a0001c0001t0116g0245 a0001c0001t0130g0244	11	310	0.0355	32	c.784 others(47): Show c.784+659_784+690dupATATATATTATACATAATATATATAATATA TA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850616	T T	TATATATT others(25): Show TATATATTATATATATTATGTATAATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0289 a0001c0001t0076g0289	1	310	0.0032	32	c.784 others(47): Show c.784+657_784+658insTATATATATTATACATAATATATATAATAT AT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0297 a0001c0001t0119g0297	1	310	0.0032	32	c.237 others(51): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD6_chr15_66697236_66787849	66711803	C C	CAGGGCTG others(25): Show CAGGGCTGGAGGGCTGGAGGGCTGGAGGGCTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03041.hp2 HG02572.hp1 HG02809.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0016 a0001c0001t0028	a0001c0001t0016g0267 a0001c0001t0016g0268 a0001c0001t0028g0269 a0001c0001t0016g0267 a0001c0001t0016g0268 a0001c0001t0028g0269	3	336	0.0089	32	c.874 others(47): Show c.874+107_874+108insCTGGAGGGCTGGAGGGCTGGAGGGCTGGAG GG	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAGP_chr12_51239558_51275415	51250969	C C	CAGGGCTG others(25): Show CAGGGCTGCAATCCATCTTCCTACCATGGATCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02293.hp2 HG02300.hp2 HG01993.hp2 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0134 a0001c0001t0001g0006 a0001c0001t0001g0134	3	410	0.0073	32	c.35- others(47): Show c.35-4170_35-4139dupAGATCCATGGTAGGAAGATGGATTGCAGCC CT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCAD1_chr4_94202865_94296292	94223734	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0147 a0002c0003t0003g0147	1	322	0.0031	32	c.191 others(49): Show c.191-2359_191-2358insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(25): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01106.hp2 others(9): Show HG00558.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18975.hp1 NA18997.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 others(1): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 a0001c0001t0039	a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 others(5): Show a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0021g0080 a0001c0001t0021g0089 a0001c0001t0031g0097 a0001c0001t0039g0132	12	402	0.0299	32	c.19 others(43): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19007.hp2 NA18961.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0104 a0003c0003t0006g0128 a0003c0003t0006g0104 a0003c0003t0006g0128	2	340	0.0059	32	c.226 others(49): Show c.2260+988_2260+989insTATATATATATATATATATATATATATA AAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0071 a0003c0003t0004g0071	1	340	0.0029	32	c.226 others(49): Show c.2260+988_2260+989insTATATATATATATATATATATATATATA TAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG02165.hp2 others(5): Show HG00621.hp1 HG00673.hp1 HG02165.hp2 NA18974.hp2 NA19003.hp1 NA19012.hp1 NA19058.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0192 others(5): Show a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0003g0163	8	340	0.0235	32	c.226 others(51): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT ATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0162 a0001c0002t0003g0162	1	340	0.0029	32	c.226 others(51): Show c.2260+1313_2260+1314insGTGTATATATATATATATATATATAT ATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748378	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0031 a0001c0005t0009g0031	1	340	0.0029	32	c.392 others(49): Show c.3927+736_3927+737insGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0011 a0009c0022t0011	a0009c0022t0011g0229 a0009c0022t0011g0229	1	340	0.0029	32	c.392 others(49): Show c.3927+736_3927+737insGTGTGTGTGTGTGTGTGTGTGTGTATAT ATGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG7_chr1_183467499_183559191	183477519	T T	TGTGTGTG others(25): Show TGTGTGTGCATATGTGTATATATGCATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01099.hp1 others(16): Show HG00099.hp1 HG00738.hp1 HG01099.hp1 HG01175.hp2 HG01256.hp2 HG01516.hp1 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0105 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0090	19	360	0.0528	32	c.29+ others(47): Show c.29+5041_29+5072dupATGTGTATATATGCATATATACGTGTGTGC AT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477712	G G	GTGTGTGC others(25): Show GTGTGTGCATATGTGTATATATGCATATATACA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	360	0.0028	32	c.29+ others(47): Show c.29+5072_29+5073insATGTGTATATATGCATATATACATGTGTGC AT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0085 a0001c0001t0019g0085	1	320	0.0031	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTGTGTGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	320	0.0031	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTGTGTATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	320	0.0031	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTGTATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATACATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	320	0.0031	32	c.67 others(43): Show c.6765_*6766insGTGTGTATGTATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	320	0.0031	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTATATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	32	c.67 others(43): Show c.6765_*6766insGTGTGTATATATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11168299	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	397	0.0025	32	c.-30 others(43): Show c.-3058_-3057insGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2894		chr12	TogoVar

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Search Results (Total: 10000 hits)