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
SGSM2_chr17_2332501_2386054	2338774	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	422	0.0024	35	c.57+ others(50): Show c.57+1029_57+1030insTATATATATATATATATATATATATATATA TATAT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23			chr17	TogoVar
SH3BP4_chr2_234947017_235060714	235038304	T T	TATAATAT others(28): Show TATAATATATATTATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	348	0.0029	35	c.119 others(52): Show c.119-2581_119-2580insATATATATTATATATAATATATATTATA TATAATA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5L_chr1_248805446_248830915	248829712	A A	ACCTCTCC others(28): Show ACCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA19068.hp2 NA19081.hp1 HG01433.hp1 NA19068.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0003 a0001c0001t0001g0128	3	412	0.0073	35	c.-43 others(46): Show c.-4310_-4309insGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG G	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding		3798		chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(28): Show GTTTCCTTTCCTTTCCTTTCCTTTCCGTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01361.hp2 HG02145.hp2 others(2): Show HG00558.hp1 HG01361.hp2 HG02145.hp2 NA18943.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0130 a0001c0001t0002g0119 a0001c0001t0003g0237	5	260	0.0192	35	c.45+ others(52): Show c.45+43698_45+43699insCTTTCCTTTCCTTTCCGTTCCTTTCCTT TCCTTTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622977	T T	TTTCCTTT others(28): Show TTTCCTTTCCTTTCCTTTCCTTTCCGTTCCGTTCCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0226 a0001c0002t0005g0226	1	260	0.0039	35	c.45+ others(52): Show c.45+43698_45+43699insCTTTCCTTTCCTTTCCGTTCCGTTCCGT TCCTTTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622986	G G	GTTTCCTT others(28): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19240.hp2 NA20752.hp2 HG06807.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0003g0151 a0001c0001t0009g0009 a0001c0001t0010g0219 a0001c0001t0003g0151 a0001c0001t0009g0009 a0001c0001t0010g0219	3	260	0.0115	35	c.45+ others(52): Show c.45+43722_45+43756dupTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0218 a0001c0002t0002g0218	1	316	0.0032	35	c.576 others(52): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHC2_chr19_411589_466033	426363	A A	AGGCAGAG others(28): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0196 a0002c0004t0001g0196	1	212	0.0047	35	c.117 others(54): Show c.1175-1167_1175-1133dupCCTCTCGGTGTCGTCCTCCCTCCCCG GACTCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	426538	A A	AGGCAGAG others(28): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	212	0.0047	35	c.117 others(54): Show c.1175-1342_1175-1308dupCCTCTCGGTGTCGTCCTCCCTCCCCG GACTCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	458852	A A	AGGGGCGG others(28): Show AGGGGCGGGGGAAGCGGGGTCGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	212	0.0047	35	c.468 others(52): Show c.468+1676_468+1677insCCCCCCCCCCCCCCCGACCCCGCTTCCC CCGCCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0370 a0001c0001t0002g0370	1	384	0.0026	35	c.656 others(52): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHISA5_chr3_48462876_48509174	48481441	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02895.hp2 others(19): Show HG01884.hp2 HG02280.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18969.hp2 NA19000.hp1 NA19030.hp1 NA19057.hp1 NA19070.hp1 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 a0001c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 others(19): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0006g0086 a0001c0002t0005g0100 a0001c0004t0001g0032	22	290	0.0759	35	c.234 others(52): Show c.234-2185_234-2184insATTTTATTTTATTTTATTTTATTTTATT TTATTTT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13071600	C C	CCTTCCTT others(28): Show CCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0061 a0001c0001t0021g0061	1	214	0.0047	35	c.692 others(56): Show c.692-131793_692-131792insTTCCTTCCTTCCTCCCTTCCTCCC TTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL2A_chr1_52628168_52662065	52645396	C C	CGTTTTGT others(28): Show CGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG02523.hp2 others(11): Show HG00140.hp1 HG01081.hp2 HG02523.hp2 HG04199.hp2 NA18942.hp1 NA18942.hp2 NA18959.hp2 NA18971.hp1 NA18974.hp2 NA18992.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0014 a0001c0001t0001g0099 a0001c0001t0001g0100 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0180 a0001c0001t0004g0153	14	444	0.0315	35	c.322 others(52): Show c.322+2423_322+2424insTGTTTTGTTTTGTTTTGTTTTGTTTTGT TTTGTTT	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHLD1_chr20_5745401_5869395	5764160	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG01261.hp2 others(4): Show HG00280.hp2 HG01099.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02683.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0001 a0002c0003t0003 a0004c0005t0002 a0002c0003t0001 a0002c0003t0003 a0004c0005t0002	a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 others(4): Show a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0243 a0002c0003t0003g0219 a0004c0005t0002g0088	7	328	0.0213	35	c.-4- others(50): Show c.-4-8687_-4-8686insATTTTTATATATATATATTTTATATATATA TATAT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTGTCT others(28): Show GTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0073 a0001c0001t0192g0073	1	220	0.0046	35	c.-43 others(46): Show c.-4313_-4312insTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTCTTT C	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTGTCT others(28): Show GTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp1 others(22): Show HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0024 a0001c0001t0026 a0001c0001t0058 a0001c0001t0071 a0001c0001t0075 a0001c0001t0087 a0001c0001t0092 a0001c0001t0105 a0001c0001t0116 a0001c0001t0120 a0001c0001t0140 a0001c0001t0148 a0001c0001t0163 a0001c0001t0167 a0001c0001t0170 a0001c0001t0175 a0001c0001t0177 a0001c0001t0178 a0001c0001t0193 a0001c0001t0194 a0001c0001t0197 a0001c0003t0191	a0001c0001t0001g0007 a0001c0001t0002g0166 a0001c0001t0007g0070 others(22): Show a0001c0001t0001g0007 a0001c0001t0002g0166 a0001c0001t0007g0070 a0001c0001t0024g0160 a0001c0001t0026g0154 a0001c0001t0058g0014 a0001c0001t0071g0178 a0001c0001t0075g0141 a0001c0001t0087g0128 a0001c0001t0092g0078 a0001c0001t0105g0129 a0001c0001t0116g0030 a0001c0001t0120g0155 a0001c0001t0140g0152 a0001c0001t0148g0183 a0001c0001t0163g0016 a0001c0001t0167g0015 a0001c0001t0170g0066 a0001c0001t0175g0168 a0001c0001t0177g0113 a0001c0001t0178g0159 a0001c0001t0193g0075 a0001c0001t0194g0205 a0001c0001t0197g0143 a0001c0003t0191g0013	25	220	0.1136	35	c.-43 others(46): Show c.-4313_-4312insTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTAT C	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SHPRH_chr6_145879807_145969358	145934473	T T	TAAATAAA others(28): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0050 a0001c0003t0005g0054 a0001c0003t0005g0050 a0001c0003t0005g0054	2	354	0.0057	35	c.299 others(52): Show c.2990+399_2990+433dupTATTTTATTTTATTTTATTTTATTTTAT TTTATTT	SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding	13/29			chr6	TogoVar
SHROOM2_chrX_9781429_9954443	9792153	A A	ATAGAATA others(28): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	256	0.0039	35	c.165 others(52): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAG TAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(28): Show TAGAATAGAATAGAATAGAATGAAAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0116 a0002c0025t0008g0116	1	256	0.0039	35	c.165 others(52): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATGAAAAAAGA AAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	411148	G G	GGGGGTGC others(28): Show GGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	242	0.0041	35	c.-15 others(54): Show c.-153-1122_-153-1121insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411193	G G	GGGGGTGC others(28): Show GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0231 a0001c0003t0001g0232	2	242	0.0083	35	c.-15 others(54): Show c.-153-1167_-153-1166insGACTGCATCCAGACATGGTCAGAGCT GGGCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(28): Show GAAGGAAAAGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	366	0.0027	35	c.616 others(52): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCCTTTCCTTTCT TTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(28): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG02040.hp1 others(11): Show HG00323.hp2 HG01074.hp1 HG02040.hp1 HG02080.hp2 HG02523.hp1 HG02615.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03579.hp2 NA18948.hp2 NA19072.hp1 NA19088.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0018 a0001c0001 a0001c0002 a0013c0018	a0001c0001t0004 a0001c0001t0026 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0026 a0001c0002t0005 a0001c0002t0015 a0013c0018t0001	a0001c0001t0004g0108 a0001c0001t0004g0114 a0001c0001t0004g0117 others(11): Show a0001c0001t0004g0108 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0121 a0001c0001t0004g0134 a0001c0001t0004g0141 a0001c0001t0004g0258 a0001c0001t0026g0113 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0052 a0001c0002t0005g0167 a0001c0002t0015g0033 a0013c0018t0001g0016	14	366	0.0383	35	c.616 others(52): Show c.616+9357_616+9391dupTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(28): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 NA18612.hp2 others(1): Show HG01081.hp2 HG01106.hp2 NA18612.hp2 NA18944.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0002c0003t0007 a0002c0003t0008 others(1): Show a0001c0001t0001 a0002c0003t0007 a0002c0003t0008 a0004c0006t0008	a0001c0001t0001g0331 a0002c0003t0007g0328 a0002c0003t0008g0337 others(1): Show a0001c0001t0001g0331 a0002c0003t0007g0328 a0002c0003t0008g0337 a0004c0006t0008g0347	4	366	0.0109	35	c.455 others(54): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938378	G G	GGAGGAGA others(28): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01884.hp2 others(1): Show HG00099.hp2 HG00639.hp1 HG01884.hp2 NA20752.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0009 a0002c0003t0025 a0004c0006t0008 a0002c0003t0009 a0002c0003t0025 a0004c0006t0008	a0002c0003t0009g0318 a0002c0003t0009g0359 a0002c0003t0025g0322 others(1): Show a0002c0003t0009g0318 a0002c0003t0009g0359 a0002c0003t0025g0322 a0004c0006t0008g0348	4	366	0.0109	35	c.455 others(54): Show c.455-10999_455-10998insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18990.hp2 NA18960.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0235 a0001c0001t0001g0194 a0001c0001t0001g0235	2	366	0.0055	35	c.274 others(54): Show c.274-64865_274-64864insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIPA1L1_chr14_71315476_71746209	71417469	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	174	0.0058	35	c.-46 others(56): Show c.-464-95240_-464-95239insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIRPA_chr20_1890407_1945592	1901783	G G	GACTGTTT others(28): Show GACTGTTTAGCTGCCATGTTCCCAGTGATCTGTGTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0256 a0002c0002t0011g0256	1	418	0.0024	35	c.79+ others(50): Show c.79+6257_79+6258insACTGTTTAGCTGCCATGTTCCCAGTGATCT GTGTT	SIRPA	ENSG00000198053.12	transcript	ENST00000358771.5	protein_coding	1/7			chr20	TogoVar
SKAP1_chr17_48128442_48435214	48214930	G G	GTAAAATA others(28): Show GTAAAATAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02056.hp2 HG02257.hp1 others(5): Show HG01070.hp2 HG02056.hp2 HG02257.hp1 HG03942.hp1 NA18941.hp1 NA18978.hp2 NA18982.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0187	8	292	0.0274	35	c.281 others(54): Show c.281-25465_281-25431dupTTTTATTTTATTTTATTTTATTTTAT TTTATTTTA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48264218	T T	TATATATA others(28): Show TATATATACAAAATGTATACATATATATGTTTATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp1 HG03579.hp2 others(1): Show HG01106.hp2 HG02486.hp1 HG03579.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0229 others(1): Show a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0229 a0002c0004t0001g0230	4	292	0.0137	35	c.281 others(54): Show c.281-74753_281-74719dupGTATAAACATATATATGTATACATTT TGTATATAT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA21309.hp2 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0047 a0002c0002t0001g0053 a0001c0001t0001g0047 a0002c0002t0001g0053	2	292	0.0069	35	c.46+ others(52): Show c.46+16551_46+16552insATATATATATTTTTTTTTTTTTTTTTTT TTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	292	0.0034	35	c.46+ others(52): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A6_chr4_86818468_86854384	86842875	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	350	0.0029	35	c.377 others(52): Show c.377+5863_377+5864insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC13A3_chr20_46552828_46656459	46656198	C C	CACAGTAT others(28): Show CACAGTATATATAATACTGTATGTGATGTAGACTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	390	0.0026	35	c.-48 others(46): Show c.-4812_-4778dupACAGTCTACATCACATACAGTATTATATATACTG T	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4740		chr20	TogoVar
SLC16A12_chr10_89425299_89540594	89425944	A A	ATTTGGTT others(28): Show ATTTGGTTTCAACATTTTCTAACATTTGGCTTCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	292	0.0034	35	c.71 others(46): Show c.7119_*7120insCCAGAAGCCAAATGTTAGAAAATGTTGAAACCAA A	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding		4354		chr10	TogoVar
SLC16A6_chr17_68262026_68296127	68266438	T T	TTTTTGTA others(28): Show TTTTTGTATAAAAAGTATATATATGTATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02258.hp1 others(6): Show HG01168.hp1 HG01169.hp1 HG02258.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0033 a0005c0005t0007g0035 a0005c0005t0007g0064 others(4): Show a0005c0005t0007g0033 a0005c0005t0007g0035 a0005c0005t0007g0064 a0005c0005t0007g0169 a0005c0005t0007g0171 a0005c0005t0007g0189 a0005c0005t0007g0210	9	408	0.0221	35	c.26 others(46): Show c.2657_*2658insGTATATATATACATATATATACTTTTTATACAAA A	SLC16A6	ENSG00000108932.13	transcript	ENST00000580666.6	protein_coding		587		chr17	TogoVar
SLC16A6_chr17_68262026_68296127	68266439	T T	TTTTTGTA others(28): Show TTTTTGTATAAAAAGTATATATATGTATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp2 others(55): Show HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02738.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18940.hp2 NA18943.hp1 NA18949.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18969.hp2 NA18979.hp1 NA18982.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19043.hp1 NA19055.hp1 NA19086.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0001c0019 a0002c0002 others(4): Show a0001c0001 a0001c0019 a0002c0002 a0003c0003 a0005c0005 a0006c0007 a0010c0016	a0001c0001t0001 a0001c0001t0029 a0001c0019t0001 others(5): Show a0001c0001t0001 a0001c0001t0029 a0001c0019t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0006c0007t0001 a0010c0016t0006	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0029g0276 a0001c0019t0001g0222 a0002c0002t0001g0202 a0003c0003t0001g0048 a0005c0005t0001g0091 a0005c0005t0001g0092 a0006c0007t0001g0155 a0006c0007t0001g0160 a0010c0016t0006g0213	58	408	0.1422	35	c.26 others(46): Show c.2656_*2657insGTATATATATACATATATATACTTTTTATACAAA A	SLC16A6	ENSG00000108932.13	transcript	ENST00000580666.6	protein_coding		586		chr17	TogoVar
SLC17A4_chr6_25749742_25786199	25782906	G G	GCTAGAAT others(28): Show GCTAGAATAATTTTAACTTGTGTTTTTTCTCTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	366	0.0027	35	c.37 others(46): Show c.3718_*3719insCTAGAATAATTTTAACTTGTGTTTTTTCTCTTAT T	SLC17A4	ENSG00000146039.11	transcript	ENST00000377905.9	protein_coding		1708		chr6	TogoVar
SLC18A1_chr8_20139855_20188136	20185119	G G	GGAAATTG others(28): Show GGAAATTGAGGGCCTGGGAAAGCAGGTATAGACTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0175 a0001c0003t0002g0175	1	434	0.0023	35	c.-21 others(46): Show c.-2181_-2180insTTAGTCTATACCTGCTTTCCCAGGCCCTCAATTT C	SLC18A1	ENSG00000036565.15	transcript	ENST00000276373.10	protein_coding		1984		chr8	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	304	0.0033	35	c.184 others(52): Show c.184-2020_184-2019insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792311	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	304	0.0033	35	c.184 others(52): Show c.184-2040_184-2039insTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC19A1_chr21_45507565_45547440	45508442	A A	AGTGGGTG others(28): Show AGTGGGTGAGTGGATGGGTGGCTGGATGGTGGACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02280.hp1 others(7): Show HG01496.hp2 HG02109.hp2 HG02280.hp1 HG02630.hp2 HG02717.hp1 HG03130.hp2 HG03453.hp2 HG03579.hp2 HG03942.hp1 HG04199.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0001c0007 a0002c0002 others(1): Show a0001c0004 a0001c0007 a0002c0002 a0006c0009	a0001c0004t0009 a0001c0004t0022 a0001c0004t0035 others(4): Show a0001c0004t0009 a0001c0004t0022 a0001c0004t0035 a0001c0007t0020 a0002c0002t0002 a0002c0002t0016 a0006c0009t0009	a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 others(7): Show a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 a0001c0004t0022g0267 a0001c0004t0035g0228 a0001c0007t0020g0160 a0002c0002t0002g0202 a0002c0002t0016g0069 a0002c0002t0016g0242 a0006c0009t0009g0263	10	318	0.0315	35	c.72 others(46): Show c.7215_*7216insCTGTCCACCATCCAGCCACCCATCCACTCACCCA C	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding		4122		chr21	TogoVar
SLC22A16_chr6_110419687_110481613	110454576	A A	ATTTATAT others(28): Show ATTTATATATAATATATATTTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	416	0.0024	35	c.533 others(52): Show c.533+1927_533+1961dupATATATAATATATATAAATATATATTAT ATATAAA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A6_chr11_62971597_62989967	62978309	G G	GTTTATTT others(28): Show GTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	430	0.0023	35	c.136 others(52): Show c.1362-957_1362-923dupATAAAATAAAATAAAATAAAATAAAATA AAATAAA	SLC22A6	ENSG00000197901.12	transcript	ENST00000360421.9	protein_coding	8/9			chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63406842	G G	GGATTCTT others(28): Show GGATTCTTGTCTTTTTGAGAGCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0222 a0001c0001t0019g0222	1	346	0.0029	35	c.128 others(52): Show c.1288+132_1288+133insATTCTTGTCTTTTTGAGAGCTTTTTTTT TTTTTTG	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(28): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	188	0.0053	35	c.931 others(54): Show c.931-14017_931-14016insGAAAGAAAGAAAGAAAGAAAAGAAAA GAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC25A13_chr7_96115220_96327098	96240980	A A	AGAGGGGA others(28): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03579.hp2 HG02451.hp1 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0002t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0002t0001g0004	3	276	0.0109	35	c.213 others(52): Show c.213-6064_213-6063insCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTC	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	3/17			chr7	TogoVar
SLC25A17_chr22_40764630_40824346	40820663	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	326	0.0031	35	c.-14 others(46): Show c.-1416_-1415insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		1318		chr22	TogoVar
SLC25A22_chr11_785475_803281	791533	A A	AGGATGGC others(28): Show AGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0106 a0001c0001t0021g0106	1	410	0.0024	35	c.34 others(44): Show c.347_*381dupCCCCAGTCCACCAGCTCCAGTCTCCACAGCCATCC	SLC25A22	ENSG00000177542.11	transcript	ENST00000628067.3	protein_coding	10/10	381		chr11	TogoVar

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Search Results (Total: 4618 hits)