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
SLC7A7_chr14_22768222_22820435	22812791	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0369 a0001c0007t0002g0369	1	402	0.0025	33	c.499 others(48): Show c.499+108_499+109insATATATATATATATATATATATATATATAT ATA	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9			chr14	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0053 a0001c0001t0063g0053	1	236	0.0042	33	c.79 others(44): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A2_chr19_47423017_47476893	47439603	C C	CTTCCTTC others(26): Show CTTCCTTCCTTTCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	316	0.0032	33	c.188 others(52): Show c.1885+1565_1885+1566insAGGAAGGAAGGAAGGAAGGAAGAAAG GAAGGAA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	6/9			chr19	TogoVar
SLC8A3_chr14_70039215_70193951	70161121	G G	GTATATAT others(26): Show GTATATATATATATAAATATAAATATATATGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0113 a0001c0001t0053g0113	1	296	0.0034	33	c.178 others(52): Show c.1784+5485_1784+5517dupATACATATATATTTATATTTATATAT ATATATA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding	2/6			chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192023	A A	ATAATTAA others(26): Show ATAATTAATAATAATTATTATTATTATTAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0074 a0001c0003t0074	a0001c0003t0074g0290 a0001c0003t0074g0290	1	296	0.0034	33	c.-37 others(44): Show c.-3708_-3707insATTATTAATAATAATAATAATTATTATTAATTA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3073		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192023	A A	ATTAATAA others(26): Show ATTAATAATAATAATAATAATAATAATTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	296	0.0034	33	c.-37 others(44): Show c.-3708_-3707insATTAATAATTATTATTATTATTATTATTATTAA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3073		chr14	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0330 a0001c0001t0036g0296 a0001c0001t0001g0330 a0001c0001t0036g0296	2	344	0.0058	33	c.290 others(52): Show c.290-10796_290-10795insTATATATATATATATATATATATATA TATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11			chr2	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCGCG others(26): Show GCTCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG03209.hp1 others(2): Show HG01192.hp1 HG01891.hp2 HG03209.hp1 NA18942.hp2 NA18957.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0023 a0001c0001 a0002c0002 a0008c0023	a0001c0001t0001 a0002c0002t0002 a0008c0023t0007 a0001c0001t0001 a0002c0002t0002 a0008c0023t0007	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0128 a0002c0002t0002g0149 a0008c0023t0007g0147	5	218	0.0229	33	c.212 others(50): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CACGACAC others(26): Show CACGACACACACACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	360	0.0028	33	c.149 others(50): Show c.1491+169_1491+170insGACACACACACACACGACACACACACAC ACGAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(26): Show GACACACACGACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0064 a0001c0003t0007g0064	1	360	0.0028	33	c.149 others(50): Show c.1491+231_1491+232insGACACACACACACACACACACACACACA CACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92046986	T T	TATATATA others(26): Show TATATATAAATATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	190	0.0053	33	c.647 others(52): Show c.647-47844_647-47812dupTATAAATATATATATAATATATAAAT ATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666114	C C	CGCCCCCC others(26): Show CGCCCCCCCGCCCCCCCGCCCCCCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0360 a0001c0013t0001g0360	1	432	0.0023	33	c.127 others(50): Show c.1277-266_1277-265insGCCCCCCCGCCCCCCCGCCCCCCCCCTT CCCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11			chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(26): Show CCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG01257.hp2 others(4): Show HG01099.hp1 HG01192.hp1 HG01257.hp2 HG03927.hp1 NA18955.hp2 NA19056.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0026 a0002c0002 others(1): Show a0001c0001 a0001c0026 a0002c0002 a0002c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0026t0003 a0002c0002t0002 a0002c0009t0002	a0001c0001t0002g0167 a0001c0001t0003g0105 a0001c0001t0003g0166 others(4): Show a0001c0001t0002g0167 a0001c0001t0003g0105 a0001c0001t0003g0166 a0001c0001t0014g0180 a0001c0026t0003g0097 a0002c0002t0002g0103 a0002c0009t0002g0247	7	432	0.0162	33	c.127 others(50): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCCCCTTCCC CTTCC	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(26): Show GCCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0128	1	432	0.0023	33	c.127 others(50): Show c.1277-261_1277-260insCCCCCCCCCTTCCCCTTCCCCTTCCCCT TCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN13_chr17_35430096_35453766	35434438	A A	AAAGAAAG others(26): Show AAAGAAAGAAAGAAAGAAAGAAAGAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0025 a0027c0025	a0027c0025t0032 a0027c0025t0032	a0027c0025t0032g0061 a0027c0025t0032g0061	1	456	0.0022	33	c.61 others(44): Show c.6156_*6157insCTTCCTTCCTCTTTCTTTCTTTCTTTCTTTCTT	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding		657		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0009 a0002c0012t0011g0009	1	428	0.0023	33	c.-11 others(44): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0126 a0008c0009t0006g0126	1	428	0.0023	33	c.-11 others(44): Show c.-1107_-1106insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(26): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03831.hp1 HG01978.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0195 a0001c0001t0002g0049 a0001c0001t0002g0195	2	310	0.0065	33	c.150 others(52): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTT	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(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03688.hp1 NA19077.hp1 HG00733.hp1 HG03688.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0272 a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0272	3	310	0.0097	33	c.150 others(52): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(26): Show ATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	398	0.0025	33	c.-37 others(44): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTATCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01975.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG01975.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0089 a0001c0001t0002g0017 a0001c0001t0002g0344 a0001c0001t0001g0089 a0001c0001t0002g0017 a0001c0001t0002g0344	4	386	0.0104	33	c.299 others(52): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10452678	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0208 a0001c0001t0054g0208	1	266	0.0038	33	c.-29 others(50): Show c.-29-5498_-29-5497insTATATATATATATATATATATATATATA TATAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7			chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10452680	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0028 a0007c0009t0028	a0007c0009t0028g0207 a0007c0009t0028g0207	1	266	0.0038	33	c.-29 others(50): Show c.-29-5495_-29-5494insATATATATATATATATATATATATATAT ATATA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX9_chr21_44935029_44981973	44978398	C C	CGTGTGGA others(26): Show CGTGTGGAGCGGGTGTGGGGCGCGTGTGGAACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02647.hp2 others(2): Show HG01109.hp1 HG02647.hp1 HG02647.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0183 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0203	5	334	0.0150	33	c.15 others(44): Show c.1595_*1596insGTGTGGAGCGGGTGTGGGGCGCGTGTGGAACGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1426		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978541	G G	GGTGTGGG others(26): Show GGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	334	0.0030	33	c.17 others(44): Show c.1738_*1739insGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1569		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978662	G G	GGTGTGGG others(26): Show GGTGTGGGGCGCGTGTGGGGCGCGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	334	0.0030	33	c.18 others(44): Show c.1859_*1860insGTGTGGGGCGCGTGTGGGGCGCGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1690		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978736	G G	GCGCGTGT others(26): Show GCGCGTGTGGGGCGGGTGTGGGGCGCGTGTGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	334	0.0030	33	c.19 others(44): Show c.1933_*1934insCGCGTGTGGGGCGGGTGTGGGGCGCGTGTGGAA	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1764		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850587	A A	AATGTATA others(26): Show AATGTATAATATATATTATATATAACATATAATG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0255 a0001c0001t0043g0255	1	310	0.0032	33	c.784 others(48): Show c.784+686_784+687insCATTATATGTTATATATAATATATATTATA CAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp1 NA20752.hp1 HG02015.hp1 HG02129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0042 a0001c0001t0100 a0001c0001t0011 a0001c0001t0042 a0001c0001t0100	a0001c0001t0011g0223 a0001c0001t0042g0254 a0001c0001t0100g0299 a0001c0001t0011g0223 a0001c0001t0042g0254 a0001c0001t0100g0299	3	310	0.0097	33	c.237 others(52): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	286	0.0035	33	c.491 others(50): Show c.4912-579_4912-578insAAAAAAAAATATATATATATATATATAT ATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	219	0.0046	33	c.184 others(50): Show c.1840-457_1840-456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	219	0.0046	33	c.184 others(50): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(26): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG03471.hp2 HG03540.hp2 HG02895.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0114 a0001c0001t0012g0045 a0001c0001t0012g0114	3	402	0.0075	33	c.19 others(44): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG01106.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0046 a0001c0001t0001g0089	2	213	0.0094	33	c.242 others(50): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(26): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG03669.hp2 HG02055.hp1 HG03139.hp1 HG03669.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0021 a0004c0004t0022 a0002c0002t0002 a0004c0004t0021 a0004c0004t0022	a0002c0002t0002g0048 a0004c0004t0021g0216 a0004c0004t0022g0050 a0002c0002t0002g0048 a0004c0004t0021g0216 a0004c0004t0022g0050	3	278	0.0108	33	c.335 others(54): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTTA TTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	278	0.0036	33	c.335 others(54): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	33	c.16 others(44): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	33	c.16 others(44): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	33	c.16 others(44): Show c.1695_*1696insTATATATATATATATTTTTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM8_chr6_87317588_87347329	87332319	C C	CATATATA others(26): Show CATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0073 a0001c0001t0022g0073	1	420	0.0024	33	c.-24 others(50): Show c.-24+1607_-24+1608insATATATATATATATATATATATATATAT ATATA	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	2/3			chr6	TogoVar
SMTN_chr22_31076318_31109624	31088585	T T	TGTGGAGG others(26): Show TGTGGAGGAATTGACTGCACTGGTGAGGCCCAGG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0173 a0017c0016t0001g0173	1	362	0.0028	33	c.274 others(43): Show c.274_294+12dupGTGGAGGAATTGACTGCACTGGTGAGGCCCAGG	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	174	0.0058	33	c.101 others(52): Show c.1017-3596_1017-3595insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065199	T T	TCCCCTCC others(26): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01123.hp1 HG00280.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0146 a0001c0001t0002g0088 a0001c0001t0002g0146	2	338	0.0059	33	c.-26 others(44): Show c.-2666_-2665insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2625		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	33	c.107 others(54): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024565	A A	AGAGAGAT others(26): Show AGAGAGATACAGGAAGTGGACAGCATCTAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 NA19030.hp1 HG02922.hp2 HG02970.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002	a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0002g0139 a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0002g0139	3	150	0.0200	33	c.532 others(52): Show c.532-94629_532-94628insCTTCCTAGATGCTGTCCACTTCCTGT ATCTCTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	308	0.0033	33	c.267 others(50): Show c.267-2781_267-2780insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNCA_chr4_89719099_89842161	89802616	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	338	0.0030	33	c.306 others(52): Show c.306+19629_306+19630insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNRK_chr3_43281540_43356143	43322951	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	258	0.0039	33	c.590 others(50): Show c.590-9203_590-9202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPC_chr6_34752505_34778857	34768776	G G	GACTTGTC others(26): Show GACTTGTCTATAGATATAAGAATATATAAGATTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	368	0.0027	33	c.250 others(48): Show c.250+780_250+781insCTTGTCTATAGATATAAGAATATATAAGAT TAA	SNRPC	ENSG00000124562.10	transcript	ENST00000244520.10	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTTT others(26): Show TTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0011g0097 a0001c0001t0011g0099	2	106	0.0189	33	c.-10 others(54): Show c.-103+26375_-103+26376insTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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