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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
SLC7A9_chr19_32825511_32874767	32845103	G G	GCAGTAAG others(14): Show GCAGTAAGCCAAGATTGTGCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0247 a0002c0002t0004g0247	1	404	0.0025	21	c.978 others(38): Show c.978-1173_978-1153dupTGGCACAATCTTGGCTTACTG	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02922.hp2 others(5): Show HG02109.hp2 HG02615.hp1 HG02922.hp2 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0080 a0001c0001t0129 others(3): Show a0001c0001t0004 a0001c0001t0080 a0001c0001t0129 a0001c0001t0173 a0001c0001t0175 a0001c0001t0178	a0001c0001t0004g0056 a0001c0001t0004g0153 a0001c0001t0004g0157 others(5): Show a0001c0001t0004g0056 a0001c0001t0004g0153 a0001c0001t0004g0157 a0001c0001t0080g0082 a0001c0001t0129g0094 a0001c0001t0173g0086 a0001c0001t0175g0048 a0001c0001t0178g0014	8	236	0.0339	21	c.79 others(32): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAGAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0013 a0001c0001t0014	a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0014g0005 others(1): Show a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0014g0005 a0001c0001t0014g0006	4	236	0.0170	21	c.79 others(32): Show c.7973_*7974insTTTTCTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40215643	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0041 a0001c0001t0109g0041	1	236	0.0042	21	c.180 others(42): Show c.1809-37171_1809-37151dupTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40253038	T T	TGTATCTG others(14): Show TGTATCTGTAGATATGTATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 NA18957.hp1 others(1): Show HG01934.hp2 HG01975.hp2 NA18957.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 others(1): Show a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 a0001c0001t0177	a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0161g0178 others(1): Show a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0161g0178 a0001c0001t0177g0172	4	236	0.0170	21	c.180 others(42): Show c.1809-74546_1809-74545insTATATACATATCTACAGATAC	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40302074	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	236	0.0042	21	c.180 others(44): Show c.1809-123582_1809-123581insCACACACACACACACACACAC	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40456316	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG02055.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0127 a0001c0001t0020 a0001c0001t0127	a0001c0001t0020g0112 a0001c0001t0127g0150 a0001c0001t0020g0112 a0001c0001t0127g0150	2	236	0.0085	21	c.-44 others(32): Show c.-4458_-4438dupTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding		4227		chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439603	C C	CTTCCTTC others(14): Show CTTCCTTCCTTTCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02970.hp2 others(3): Show HG02572.hp1 HG02717.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0001t0007 a0001c0009t0003 a0001c0001t0003 a0001c0001t0007 a0001c0009t0003	a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0007g0021 others(3): Show a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0007g0021 a0001c0001t0007g0106 a0001c0001t0007g0255 a0001c0009t0003g0111	6	316	0.0190	21	c.188 others(40): Show c.1885+1565_1885+1566insAGGAAGGAAGAAAGGAAGGAA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC9A1_chr1_27093809_27160125	27131947	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0063 a0002c0006t0012g0063	1	234	0.0043	21	c.353 others(40): Show c.353-17662_353-17661insATATATTTTTTTTTTTTTTTT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A3_chr5_465456_529449	495797	A A	ACTCCCCG others(14): Show ACTCCCCGCGCCATCGCCGACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01109.hp2 others(1): Show HG00642.hp1 HG01074.hp2 HG01109.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031	4	218	0.0184	21	c.212 others(38): Show c.212-3747_212-3727dupGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG02056.hp2 others(17): Show HG00280.hp1 HG01496.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG03471.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp2 NA18945.hp2 NA18954.hp1 NA18963.hp2 NA18975.hp1 NA18975.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0020 others(4): Show a0001c0001 a0001c0008 a0001c0020 a0001c0025 a0002c0002 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0021 a0001c0008t0018 a0001c0020t0004 a0001c0025t0001 a0002c0002t0002 a0002c0010t0002 a0002c0018t0002	a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0064 others(17): Show a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0004g0010 a0001c0001t0004g0091 a0001c0001t0005g0185 a0001c0001t0014g0061 a0001c0001t0021g0127 a0001c0008t0018g0124 a0001c0020t0004g0102 a0001c0025t0001g0083 a0002c0002t0002g0036 a0002c0002t0002g0049 a0002c0002t0002g0076 a0002c0002t0002g0099 a0002c0010t0002g0093 a0002c0018t0002g0048	20	218	0.0917	21	c.212 others(40): Show c.212-15096_212-15095insAAAAAAAAAAAAAAAAAAAAA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(14): Show GACACACACGACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	360	0.0028	21	c.149 others(38): Show c.1491+216_1491+217insGACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884288	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01517.hp2 HG02071.hp1 HG01123.hp1 HG01517.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0193 a0001c0001t0003g0080 a0001c0001t0003g0099 a0001c0001t0001g0193 a0001c0001t0003g0080 a0001c0001t0003g0099	3	360	0.0083	21	c.149 others(38): Show c.1491+222_1491+223insACACACACACACACACACACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(14): Show GACACACACGACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0325 a0001c0001t0007g0325	1	360	0.0028	21	c.149 others(38): Show c.1491+231_1491+232insGACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884291	C C	CACACACA others(14): Show CACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0299 a0001c0002t0005g0299	1	360	0.0028	21	c.149 others(38): Show c.1491+245_1491+246insGACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9B2_chr4_103017253_103081761	103072056	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02965.hp1 HG02109.hp1 HG02647.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0011 a0003c0004t0021 a0003c0004t0022 a0001c0003t0011 a0003c0004t0021 a0003c0004t0022	a0001c0003t0011g0078 a0003c0004t0021g0058 a0003c0004t0022g0057 a0001c0003t0011g0078 a0003c0004t0021g0058 a0003c0004t0022g0057	3	356	0.0084	21	c.-43 others(38): Show c.-43+4127_-43+4128insAAAAAAAAAAAAAAAAAAAAA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	1/11			chr4	TogoVar
SLC9B2_chr4_103017253_103081761	103078760	A A	AATTATTA others(14): Show AATTATTATTATTATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0057 a0003c0004t0022g0057	1	356	0.0028	21	c.-26 others(32): Show c.-2620_-2619insAATAATAATAATAATAATAAT	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding		2000		chr4	TogoVar
SLC9C1_chr3_112135898_112299216	112183349	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp1 NA19030.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp2	a0004 a0006 a0004 a0006	a0004c0005 a0006c0008 a0004c0005 a0006c0008	a0004c0005t0001 a0006c0008t0001 a0004c0005t0001 a0006c0008t0001	a0004c0005t0001g0020 a0006c0008t0001g0012 a0006c0008t0001g0013 a0004c0005t0001g0020 a0006c0008t0001g0012 a0006c0008t0001g0013	3	372	0.0081	21	c.252 others(40): Show c.2524-1112_2524-1092dupAAAAAAAAAAAAAAAAAAAAA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	20/28			chr3	TogoVar
SLC9C2_chr1_173495460_173608072	173550872	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0032 a0003c0003t0002g0032	1	316	0.0032	21	c.129 others(40): Show c.1298-2321_1298-2320insCTCTCTCTCTCTCTCTCTCTC	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	11/27			chr1	TogoVar
SLCO1B1_chr12_21126194_21244796	21152533	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG03209.hp1 others(2): Show HG02559.hp1 HG03098.hp1 HG03209.hp1 HG06807.hp2 NA19240.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0006 a0005c0009 a0001c0001 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0005c0009t0002	a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0001t0002g0014 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0001t0002g0014 a0004c0006t0001g0081 a0005c0009t0002g0083	5	318	0.0157	21	c.84+ others(38): Show c.84+10893_84+10894insTTTTTTTTTTTTTTTTTTTTT	SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20880510	T T	TAATGTAA others(14): Show TAATGTAAAGTTTCATTGATAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0244 a0002c0002t0003g0244	1	284	0.0035	21	c.133 others(38): Show c.1332-340_1332-320dupTAAAGTTTCATTGATAGAATG	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO2A1_chr3_133927701_134034925	133963815	A A	AACATTCT others(14): Show AACATTCTGAATGTTCAGAATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02055.hp2 others(10): Show HG01109.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0003 others(1): Show a0001c0007 a0001c0008 a0002c0003 a0002c0004	a0001c0007t0004 a0001c0008t0009 a0002c0003t0002 others(6): Show a0001c0007t0004 a0001c0008t0009 a0002c0003t0002 a0002c0003t0009 a0002c0003t0016 a0002c0003t0028 a0002c0004t0002 a0002c0004t0008 a0002c0004t0016	a0001c0007t0004g0202 a0001c0008t0009g0276 a0002c0003t0002g0201 others(10): Show a0001c0007t0004g0202 a0001c0008t0009g0276 a0002c0003t0002g0201 a0002c0003t0009g0104 a0002c0003t0009g0249 a0002c0003t0009g0274 a0002c0003t0009g0275 a0002c0003t0016g0305 a0002c0003t0016g0306 a0002c0003t0028g0283 a0002c0004t0002g0100 a0002c0004t0008g0307 a0002c0004t0016g0308	13	342	0.0380	21	c.398 others(38): Show c.398-8623_398-8622insCATTCTGAACATTCAGAATGT	SLCO2A1	ENSG00000174640.15	transcript	ENST00000310926.11	protein_coding	3/13			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp2 HG03704.hp2 HG02970.hp2 HG03195.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0033 a0001c0002t0041 a0002c0003t0011 a0001c0001t0033 a0001c0002t0041 a0002c0003t0011	a0001c0001t0033g0027 a0001c0002t0041g0003 a0002c0003t0011g0039 a0001c0001t0033g0027 a0001c0002t0041g0003 a0002c0003t0011g0039	3	190	0.0158	21	c.646 others(40): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91974265	G G	GTTGTTGT others(14): Show GTTGTTGTTGTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00733.hp2 others(8): Show HG00099.hp1 HG00621.hp1 HG00733.hp2 HG01070.hp2 HG01256.hp1 HG01517.hp2 HG02683.hp1 HG02895.hp1 NA18612.hp2 NA18906.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0002t0002 a0001c0002t0015 a0001c0006t0004 a0002c0003t0002 a0002c0005t0009	a0001c0001t0001g0123 a0001c0001t0002g0112 a0001c0001t0004g0086 others(8): Show a0001c0001t0001g0123 a0001c0001t0002g0112 a0001c0001t0004g0086 a0001c0001t0008g0107 a0001c0001t0018g0077 a0001c0001t0021g0090 a0001c0002t0002g0149 a0001c0002t0015g0177 a0001c0006t0004g0114 a0002c0003t0002g0100 a0002c0005t0009g0178	11	190	0.0579	21	c.646 others(40): Show c.646+57809_646+57810insGTTGTTGTTATTATTATTATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62661021	G G	GAGCCCCC others(14): Show GAGCCCCCAGCCCCCAGCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG03195.hp2 others(2): Show HG01884.hp1 HG02809.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0341 a0001c0001t0003g0354 others(2): Show a0001c0001t0003g0243 a0001c0001t0003g0341 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356	5	432	0.0116	21	c.101 others(36): Show c.1010-23_1010-22insCAGCCCCCAGCCCCCAGCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(14): Show CCCCGCCCCCCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04228.hp1 HG01074.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0202 a0001c0001t0003g0085 a0001c0001t0002g0202 a0001c0001t0003g0085	2	432	0.0046	21	c.127 others(38): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(14): Show GCCCCCCCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	432	0.0023	21	c.127 others(38): Show c.1277-261_1277-260insCCCCCCCCCTTCCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN11_chr17_35345305_35378621	35349341	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA20300.hp1 NA19087.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0008 a0002c0001t0003g0151 a0002c0001t0003g0008 a0002c0001t0003g0151	2	466	0.0043	21	c.30 others(32): Show c.3014_*3015insCTTTTTTTTTTTTTTTTTTTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		963		chr17	TogoVar
SLFN11_chr17_35345305_35378621	35349342	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG01109.hp1 others(18): Show HG00423.hp2 HG00735.hp2 HG01109.hp1 HG01978.hp1 HG02071.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18949.hp1 NA19002.hp1 NA19043.hp1 NA19081.hp2	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0010 a0018 a0021	a0002c0001 a0003c0004 a0005c0008 others(3): Show a0002c0001 a0003c0004 a0005c0008 a0010c0016 a0018c0023 a0021c0044	a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 others(5): Show a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0003c0004t0005 a0005c0008t0003 a0010c0016t0003 a0018c0023t0007 a0021c0044t0003	a0002c0001t0003g0004 a0002c0001t0003g0008 a0002c0001t0003g0017 others(13): Show a0002c0001t0003g0004 a0002c0001t0003g0008 a0002c0001t0003g0017 a0002c0001t0003g0030 a0002c0001t0003g0079 a0002c0001t0003g0095 a0002c0001t0003g0140 a0002c0001t0003g0153 a0002c0001t0005g0021 a0002c0001t0005g0226 a0002c0001t0007g0284 a0003c0004t0005g0238 a0005c0008t0003g0173 a0010c0016t0003g0031 a0018c0023t0007g0074 a0021c0044t0003g0115	21	466	0.0451	21	c.30 others(32): Show c.3013_*3014insCTTTTTTTTTTTTTTTTTTTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		962		chr17	TogoVar
SLFN11_chr17_35345305_35378621	35349343	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03098.hp1 HG02055.hp2 HG03098.hp1	a0007 a0013 a0007 a0013	a0007c0010 a0013c0020 a0007c0010 a0013c0020	a0007c0010t0003 a0013c0020t0003 a0007c0010t0003 a0013c0020t0003	a0007c0010t0003g0132 a0013c0020t0003g0080 a0007c0010t0003g0132 a0013c0020t0003g0080	2	466	0.0043	21	c.30 others(32): Show c.3012_*3013insCTTTTTTTTTTTTTTTTTTTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		961		chr17	TogoVar
SLFN13_chr17_35430096_35453766	35448042	A A	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0067 a0007c0007t0067	a0007c0007t0067g0104 a0007c0007t0067g0104	1	456	0.0022	21	c.-16 others(38): Show c.-160-649_-160-629dupATAATAATAATAATAATAATA	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	1/5			chr17	TogoVar
SLIT3_chr5_168656740_169306139	168746434	G G	GGTGGTGT others(14): Show GGTGGTGTGGGTGTGGCGGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00735.hp1 others(66): Show HG00408.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18957.hp1 NA18970.hp2 NA18974.hp2 NA18989.hp1 NA18989.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0014 a0015	a0001c0001 a0001c0003 a0001c0004 others(36): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0020 a0001c0037 a0001c0047 a0001c0048 a0001c0050 a0001c0051 a0001c0052 a0001c0054 a0001c0058 a0001c0059 a0002c0002 a0002c0005 a0002c0011 a0002c0021 a0002c0043 a0002c0053 a0002c0060 a0003c0033 a0003c0055 a0003c0056 a0003c0057 a0004c0025 a0004c0036 a0006c0034 a0007c0035 a0009c0031 a0014c0064 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(50): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0003t0004 a0001c0003t0007 a0001c0003t0016 a0001c0003t0032 a0001c0004t0006 a0001c0004t0010 a0001c0004t0014 a0001c0006t0002 a0001c0006t0035 a0001c0007t0001 a0001c0007t0015 a0001c0009t0001 a0001c0009t0003 a0001c0009t0013 a0001c0010t0008 a0001c0013t0001 a0001c0014t0002 a0001c0014t0009 a0001c0016t0008 a0001c0016t0038 a0001c0017t0001 a0001c0020t0001 a0001c0037t0013 a0001c0047t0011 a0001c0048t0004 a0001c0050t0021 a0001c0051t0012 a0001c0052t0005 a0001c0054t0002 a0001c0058t0009 a0001c0059t0004 a0002c0002t0005 a0002c0002t0018 a0002c0005t0003 a0002c0011t0007 a0002c0021t0026 a0002c0043t0028 a0002c0053t0003 a0002c0060t0001 a0003c0033t0007 a0003c0055t0010 a0003c0056t0001 a0003c0057t0020 a0004c0025t0006 a0004c0036t0010 a0006c0034t0012 a0007c0035t0004 a0009c0031t0006 a0014c0064t0015 a0015c0023t0005	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(66): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0003g0099 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0001t0025g0069 a0001c0003t0004g0045 a0001c0003t0007g0098 a0001c0003t0016g0007 a0001c0003t0016g0074 a0001c0003t0032g0026 a0001c0004t0006g0060 a0001c0004t0010g0131 a0001c0004t0014g0001 a0001c0004t0014g0002 a0001c0006t0002g0039 a0001c0006t0002g0043 a0001c0006t0035g0120 a0001c0007t0001g0095 a0001c0007t0015g0054 a0001c0009t0001g0058 a0001c0009t0003g0117 a0001c0009t0013g0056 a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0013t0001g0047 a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0014t0002g0028 a0001c0014t0009g0112 a0001c0016t0008g0080 a0001c0016t0038g0132 a0001c0017t0001g0029 a0001c0017t0001g0062 a0001c0020t0001g0073 a0001c0037t0013g0021 a0001c0047t0011g0012 a0001c0048t0004g0064 a0001c0050t0021g0003 a0001c0051t0012g0005 a0001c0052t0005g0088 a0001c0054t0002g0044 a0001c0058t0009g0097 a0001c0059t0004g0027 a0002c0002t0005g0082 a0002c0002t0018g0105 a0002c0005t0003g0128 a0002c0011t0007g0116 a0002c0021t0026g0055 a0002c0043t0028g0052 a0002c0053t0003g0123 a0002c0060t0001g0057 a0003c0033t0007g0108 a0003c0055t0010g0115 a0003c0056t0001g0078 a0003c0057t0020g0096 a0004c0025t0006g0013 a0004c0036t0010g0129 a0006c0034t0012g0046 a0007c0035t0004g0049 a0009c0031t0006g0084 a0014c0064t0015g0024 a0015c0023t0005g0085	69	132	0.5227	21	c.227 others(40): Show c.2270+1867_2270+1868insACACCGCCACACCCACACCAC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168798220	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 NA18522.hp2 others(1): Show HG03098.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0006 a0002c0002 others(1): Show a0001c0004 a0001c0006 a0002c0002 a0005c0022	a0001c0004t0006 a0001c0006t0009 a0002c0002t0024 others(1): Show a0001c0004t0006 a0001c0006t0009 a0002c0002t0024 a0005c0022t0023	a0001c0004t0006g0060 a0001c0006t0009g0113 a0002c0002t0024g0086 others(1): Show a0001c0004t0006g0060 a0001c0006t0009g0113 a0002c0002t0024g0086 a0005c0022t0023g0004	4	132	0.0303	21	c.936 others(38): Show c.936-2643_936-2642insAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168798223	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0131 a0001c0004t0010g0131	1	132	0.0076	21	c.936 others(38): Show c.936-2646_936-2645insAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02451.hp1 HG03130.hp2 others(7): Show HG02071.hp1 HG02451.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03834.hp2 HG03927.hp1 NA18957.hp1 NA19007.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0014 others(5): Show a0001c0001 a0001c0007 a0001c0014 a0001c0015 a0001c0042 a0001c0047 a0002c0005 a0002c0021	a0001c0001t0001 a0001c0001t0003 a0001c0007t0015 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0015 a0001c0014t0009 a0001c0015t0006 a0001c0042t0034 a0001c0047t0011 a0002c0005t0003 a0002c0021t0002	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0003g0122 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0003g0122 a0001c0007t0015g0054 a0001c0014t0009g0121 a0001c0015t0006g0070 a0001c0042t0034g0130 a0001c0047t0011g0012 a0002c0005t0003g0128 a0002c0021t0002g0059	10	132	0.0758	21	c.414 others(40): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(14): Show GTCTCTCTCCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0126 a0001c0001t0038g0126	1	414	0.0024	21	c.-13 others(32): Show c.-1340_-1339insGAGAGAGAGAGAGGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLITRK4_chrX_143617790_143641101	143640829	A A	ATATACAC others(14): Show ATATACACACATATATATTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0147 a0002c0005t0002g0147	1	335	0.0030	21	c.-51 others(32): Show c.-5146_-5145insCACAATATATATGTGTGTATA	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding		4729		chrX	TogoVar
SLK_chr10_103962140_104034233	103974655	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18944.hp1 NA18966.hp2 HG01099.hp1 NA18944.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0001 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0284 a0001c0001t0004g0329 a0001c0001t0022g0283 a0001c0001t0001g0284 a0001c0001t0004g0329 a0001c0001t0022g0283	3	376	0.0080	21	c.150 others(38): Show c.150+6773_150+6774insTTTTTTTTTTTTTTTTTTTTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLPI_chr20_45247239_45259564	45258278	A A	AGATATAG others(14): Show AGATATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02965.hp1 others(2): Show HG02572.hp2 HG02615.hp1 HG02965.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0033	5	398	0.0126	21	c.-37 others(32): Show c.-3736_-3735insATCTATCTATCTATCTATATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3715		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp1 HG04115.hp1 others(1): Show HG01123.hp2 HG01258.hp1 HG04115.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0295 a0001c0001t0002g0310 a0001c0003t0002g0318 others(1): Show a0001c0001t0002g0295 a0001c0001t0002g0310 a0001c0003t0002g0318 a0001c0003t0002g0319	4	386	0.0104	21	c.299 others(40): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58922377	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp2 HG04199.hp2 others(1): Show HG02895.hp1 HG03225.hp2 HG04199.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0002t0001g0080 a0001c0002t0001g0110 a0001c0001t0001g0012 a0001c0002t0001g0080 a0001c0002t0001g0110	4	386	0.0104	21	c.251 others(38): Show c.251-5399_251-5379dupTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10452674	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0229 a0001c0001t0021g0229	1	266	0.0038	21	c.-29 others(38): Show c.-29-5502_-29-5501insTATATATATATATATATATAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7			chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850626	A A	ATATATTA others(14): Show ATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19062.hp2 NA18973.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0059 a0001c0001t0057 a0001c0001t0059	a0001c0001t0057g0246 a0001c0001t0059g0264 a0001c0001t0057g0246 a0001c0001t0059g0264	2	310	0.0065	21	c.784 others(36): Show c.784+647_784+648insATATATATTATACATAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850669	A A	ATATATTA others(14): Show ATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0240 a0001c0001t0058g0240	1	310	0.0032	21	c.784 others(36): Show c.784+604_784+605insATATATATTATACATAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18522.hp1 HG01109.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0253 a0001c0001t0007g0280 a0001c0001t0003g0253 a0001c0001t0007g0280	2	310	0.0065	21	c.659 others(38): Show c.659-3806_659-3805insTTTTTTTTTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCAC others(14): Show TCTCTCACACACACACCACACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	398	0.0025	21	c.743 others(38): Show c.743-7660_743-7659insTGTGTGGTGTGTGTGTGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAP1_chr6_70662883_70867003	70865507	A A	AAGTATAC others(14): Show AAGTATACAGGAGGATCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	306	0.0033	21	c.51 others(32): Show c.5173_*5174insAGTATACAGGAGGATCTGCCT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding		3505		chr6	TogoVar
SMAP2_chr1_40368727_40428322	40395577	T T	TACTAAAA others(14): Show TACTAAAAGTTAATTGCCTTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(379): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0005t0001 a0002c0004t0004 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(290): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0016 a0001c0001t0002g0035 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0003g0040 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0005g0015 a0001c0001t0006g0018 a0001c0001t0007g0002 a0001c0001t0008g0302 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0235 a0001c0005t0001g0099 a0001c0005t0001g0100 a0001c0005t0001g0101 a0002c0004t0004g0025 a0002c0004t0004g0246 a0002c0004t0004g0247 a0003c0006t0001g0193 a0003c0006t0001g0194	382	400	0.9550	21	c.104 others(40): Show c.104-11157_104-11156insTAAAAGTTAATTGCCTTCAAC	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20129.hp2 HG02922.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0279 a0002c0005t0002g0021 a0001c0001t0002g0279 a0002c0005t0002g0021	2	316	0.0063	21	c.425 others(40): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0183 a0001c0017t0001g0183	1	286	0.0035	21	c.28 others(32): Show c.2853_*2854insTATTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)