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
SLC8A1_chr2_40092270_40457090	40200173	G G	GAGATATA others(27): Show GAGATATATATAAATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0023 a0001c0001t0023g0023	1	236	0.0042	34	c.180 others(55): Show c.1809-21681_1809-21680insATATATATTTATATATATATATTT ATATATATCT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200247	T T	TATATAAA others(27): Show TATATAAATATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0029 a0001c0001t0147g0029	1	236	0.0042	34	c.180 others(55): Show c.1809-21755_1809-21754insTTATATATATATATTTATATATAT ATATTTATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40288834	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0190 a0001c0001t0190	a0001c0001t0190g0113 a0001c0001t0190g0113	1	236	0.0042	34	c.180 others(57): Show c.1809-110342_1809-110341insATATATATATATATATATATAT ATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40288849	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0099 a0001c0001t0114g0099	1	236	0.0042	34	c.180 others(57): Show c.1809-110357_1809-110356insCATACATATATATATATATATA TATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A1_chr1_27093809_27160125	27131947	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0205 a0001c0001t0014g0205	1	234	0.0043	34	c.353 others(53): Show c.353-17662_353-17661insATATATATATATATATATATATATAT ATATTTTT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A2_chr2_102614553_102716355	102632239	C C	CATATATA others(27): Show CATATATATATATATTTATTATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02897.hp2 others(3): Show HG02622.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 others(1): Show a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0009 others(3): Show a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0020g0003 a0001c0001t0021g0006 a0001c0001t0022g0007	6	344	0.0174	34	c.289 others(53): Show c.289+12116_289+12117insTTATTATATATATAATACATATATAT ATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02717.hp1 others(2): Show HG02615.hp2 HG02647.hp1 HG02717.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0107 a0001c0001t0002g0092 a0001c0001t0002g0118 others(2): Show a0001c0001t0001g0107 a0001c0001t0002g0092 a0001c0001t0002g0118 a0001c0001t0002g0185 a0001c0001t0012g0329	5	344	0.0145	34	c.290 others(53): Show c.290-10774_290-10773insATATATATATATATATATATATATAT ATATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	360	0.0028	34	c.149 others(51): Show c.1491+238_1491+271dupACACACACACACACACACACACACACAC ACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143449993	C C	CATATTAT others(27): Show CATATTATATATACATATATGCATATATACATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01243.hp2 others(30): Show HG00738.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01884.hp2 HG02080.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0016 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0023 a0001c0003t0008 a0001c0005t0006 a0001c0008t0012 a0001c0009t0011 a0001c0013t0004 a0001c0014t0001 a0001c0016t0013 a0003c0006t0005	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0002g0078 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0006g0106 a0001c0001t0007g0058 a0001c0001t0009g0011 a0001c0001t0009g0085 a0001c0001t0010g0020 a0001c0001t0015g0105 a0001c0001t0016g0081 a0001c0001t0024g0103 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0089 a0001c0002t0003g0005 a0001c0002t0003g0043 a0001c0002t0003g0088 a0001c0002t0004g0086 a0001c0002t0005g0013 a0001c0002t0005g0092 a0001c0002t0006g0102 a0001c0002t0009g0070 a0001c0002t0023g0107 a0001c0003t0008g0074 a0001c0005t0006g0099 a0001c0008t0012g0098 a0001c0009t0011g0037 a0001c0013t0004g0079 a0001c0014t0001g0073 a0001c0016t0013g0084 a0003c0006t0005g0008	33	108	0.3056	34	c.146 others(55): Show c.1469+17043_1469+17044insTATATGTATATATGCATATATGTA TATATAATAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112271393	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19006.hp1 NA19068.hp1 HG01192.hp2 NA19006.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0157 a0001c0002t0001g0312 a0001c0002t0001g0134 a0001c0002t0001g0157 a0001c0002t0001g0312	3	372	0.0081	34	c.614 others(51): Show c.614-1317_614-1316insTATATATATATATATATATATATATATA TATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	6/28			chr3	TogoVar
SLC9C2_chr1_173495460_173608072	173550872	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0035 a0003c0014t0002g0035	1	316	0.0032	34	c.129 others(53): Show c.1298-2354_1298-2321dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	11/27			chr1	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(27): Show GTATGTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02135.hp2 HG02602.hp1 others(2): Show HG01081.hp1 HG02135.hp2 HG02602.hp1 HG04184.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0133 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0198	5	284	0.0176	34	c.21 others(45): Show c.2187_*2188insTATGTGTGTGTATATATATATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(27): Show GTATGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA19240.hp1 NA18982.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0003 a0002c0002t0002 a0002c0003t0003	a0002c0002t0002g0076 a0002c0003t0003g0260 a0002c0002t0002g0076 a0002c0003t0003g0260	2	284	0.0070	34	c.21 others(45): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTATATATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91926596	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0068 a0001c0001t0019g0068	1	190	0.0053	34	c.646 others(53): Show c.646+10139_646+10140insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCGCG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO6A1_chr5_102366774_102504001	102370294	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03209.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0106 a0001c0001t0001g0108	2	342	0.0059	34	c.18 others(45): Show c.1844_*1845insCATATATATATATATATATATATATATATATATA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding		1479		chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102383094	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02258.hp1 others(2): Show HG01891.hp2 HG02055.hp1 HG02258.hp1 HG03139.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0001c0001t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0002c0003t0001g0094 others(2): Show a0001c0001t0001g0283 a0001c0001t0001g0284 a0002c0003t0001g0094 a0002c0003t0001g0097 a0004c0005t0001g0010	5	342	0.0146	34	c.201 others(53): Show c.2017+5593_2017+5594insTATATATATATATATATATATATATA TATACACA	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	12/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(27): Show TATATATATAAAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0273 a0001c0001t0001g0274	2	342	0.0059	34	c.113 others(53): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTTT ATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(27): Show TATATATATATAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	342	0.0029	34	c.113 others(53): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTAT ATATATAT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13			chr5	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG00140.hp1 HG01069.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0008 a0007c0008t0008g0008	2	428	0.0047	34	c.-11 others(45): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	256	0.0039	34	c.198 others(51): Show c.198-1680_198-1679insTTCTTTCTTTCTTTCTTTCTTTCTCTCT CTCTCT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20518557	G G	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	230	0.0044	34	c.105 others(51): Show c.1059-822_1059-821insGTATATATATATATATATATATATATAT ATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518557	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	230	0.0044	34	c.105 others(51): Show c.1059-824_1059-823insGTGTGTATATATATATATATATATATAT ATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	132	0.0076	34	c.414 others(53): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0050 a0001c0003t0017g0050	1	132	0.0076	34	c.414 others(53): Show c.414-89035_414-89002dupCACACACACACACACACACACACACA CACACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079819	A A	AGGAGGGA others(27): Show AGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01109.hp2 others(41): Show HG00408.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG02015.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 NA18974.hp2 NA18989.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0011 a0015	a0001c0001 a0001c0003 a0001c0004 others(27): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0026 a0001c0038 a0001c0040 a0001c0048 a0001c0058 a0002c0002 a0002c0008 a0002c0011 a0002c0012 a0002c0018 a0002c0019 a0002c0021 a0002c0046 a0002c0053 a0002c0061 a0003c0033 a0004c0025 a0004c0039 a0006c0034 a0011c0028 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0004t0005 a0001c0004t0019 a0001c0006t0002 a0001c0006t0009 a0001c0007t0003 a0001c0009t0001 a0001c0009t0012 a0001c0010t0008 a0001c0013t0001 a0001c0015t0006 a0001c0026t0004 a0001c0038t0011 a0001c0040t0001 a0001c0048t0004 a0001c0058t0009 a0002c0002t0005 a0002c0002t0019 a0002c0002t0022 a0002c0002t0024 a0002c0008t0002 a0002c0011t0005 a0002c0012t0004 a0002c0018t0018 a0002c0019t0001 a0002c0021t0002 a0002c0046t0013 a0002c0053t0003 a0002c0061t0011 a0003c0033t0007 a0004c0025t0006 a0004c0039t0006 a0006c0034t0012 a0011c0028t0006 a0015c0023t0005	a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0090 others(41): Show a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0003g0106 a0001c0003t0004g0045 a0001c0004t0005g0008 a0001c0004t0019g0102 a0001c0006t0002g0043 a0001c0006t0002g0063 a0001c0006t0009g0113 a0001c0007t0003g0124 a0001c0009t0001g0058 a0001c0009t0012g0035 a0001c0010t0008g0068 a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0015t0006g0070 a0001c0026t0004g0067 a0001c0038t0011g0066 a0001c0040t0001g0093 a0001c0048t0004g0064 a0001c0058t0009g0097 a0002c0002t0005g0082 a0002c0002t0019g0107 a0002c0002t0022g0038 a0002c0002t0024g0086 a0002c0008t0002g0023 a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0012t0004g0037 a0002c0018t0018g0126 a0002c0019t0001g0009 a0002c0019t0001g0011 a0002c0021t0002g0059 a0002c0046t0013g0061 a0002c0053t0003g0123 a0002c0061t0011g0051 a0003c0033t0007g0108 a0004c0025t0006g0013 a0004c0039t0006g0087 a0006c0034t0012g0046 a0011c0028t0006g0014 a0015c0023t0005g0085	44	132	0.3333	34	c.413 others(55): Show c.413+113626_413+113659dupCTCCTCCTCCTCCCTCCCTCCTCC TCCTCCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(27): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp1 NA19066.hp1 HG02056.hp1 HG03239.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0065 a0001c0001t0002g0304 a0001c0001t0002g0035 a0001c0001t0002g0065 a0001c0001t0002g0304	3	310	0.0097	34	c.150 others(53): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258267	T T	TATAGATA others(27): Show TATAGATAGATAGATATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	398	0.0025	34	c.-37 others(45): Show c.-3725_-3724insCTATCTATCTATCTATCTATATCTATCTATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3704		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18967.hp2 NA19004.hp1 others(1): Show NA18957.hp2 NA18967.hp2 NA19004.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0262 a0001c0001t0002g0282 a0001c0001t0002g0014 a0001c0001t0002g0262 a0001c0001t0002g0282	4	386	0.0104	34	c.299 others(53): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX1A_chr16_30188875_30202561	30190144	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18945.hp1 NA18999.hp2 HG02145.hp1 NA18945.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0029	3	194	0.0155	34	c.-39 others(45): Show c.-3941_-3940insTATATATTTTAATATATAAATATATTATATATAT	SLX1A	ENSG00000132207.18	transcript	ENST00000251303.11	protein_coding		3730		chr16	TogoVar
SLX1B_chr16_29449533_29463219	29450809	A A	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	174	0.0058	34	c.-39 others(45): Show c.-3934_-3933insTATATATTTTAATATATAAATATATTATATATAT	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3723		chr16	TogoVar
SLX9_chr21_44935029_44981973	44947533	G G	GTGGCATC others(27): Show GTGGCATCGTTCCTATCCTGTGACTGACAAGTTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(2): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0059	5	334	0.0150	34	c.283 others(51): Show c.283+3746_283+3779dupCCTGTGACTGACAAGTTCATGGCATCGT TCCTAT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(27): Show TTATATATATTATGTATAATATATATAATATATTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0193 a0001c0001t0193	a0001c0001t0193g0032 a0001c0001t0193g0032	1	310	0.0032	34	c.784 others(49): Show c.784+877_784+878insTAATATATTATATATATTATACATAATATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850481	T T	TTATATAT others(27): Show TTATATATTATGTATAATATATGTTATATGTATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG03225.hp1 HG02572.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0184 a0001c0001t0185 a0001c0001t0183 a0001c0001t0184 a0001c0001t0185	a0001c0001t0183g0023 a0001c0001t0184g0035 a0001c0001t0185g0025 a0001c0001t0183g0023 a0001c0001t0184g0035 a0001c0001t0185g0025	3	310	0.0097	34	c.784 others(49): Show c.784+792_784+793insTTATACATATAACATATATTATACATAATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	310	0.0032	34	c.237 others(53): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAGP_chr12_51239558_51275415	51248434	A A	ACACACAC others(27): Show ACACACACACTCTCACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0266 a0001c0001t0008g0266	1	410	0.0024	34	c.35- others(49): Show c.35-1604_35-1603insAGAGAGAGAGAGAGAGAGAGTGAGAGTGTG TGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCA1_chrX_129441506_129528490	129528197	A A	AATTTTGC others(27): Show AATTTTGCAAAACTAGCTCAGGAAAAAAATGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	279	0.0036	34	c.-48 others(45): Show c.-4828_-4827insATCTCATTTTTTTCCTGAGCTAGTTTTGCAAAAT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding		4708		chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2046665	C C	CGATAGAG others(27): Show CGATAGAGGTCTGTCCTAAAAGGGCTTCAGATTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18945.hp2 others(1): Show HG01257.hp2 HG01258.hp1 NA18945.hp2 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0002c0002t0001g0073 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0002c0002t0001g0073 a0002c0004t0001g0050	4	316	0.0127	34	c.791 others(49): Show c.791-537_791-504dupCAGATTGGGATAGAGGTCTGTCCTAAAAGG GCTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	219	0.0046	34	c.184 others(51): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	340	0.0029	34	c.226 others(53): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT ATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG7_chr1_183467499_183559191	183477452	A A	ATGTGTGC others(27): Show ATGTGTGCATATGTGTATATATGCATATATACATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(84): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG03195.hp2 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18943.hp1 NA18948.hp2 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0009 a0001c0001 a0003c0003 a0008c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0001t0022 a0003c0003t0004 a0008c0009t0007	a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0023 others(81): Show a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0252 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0272 a0001c0001t0003g0281 a0001c0001t0004g0002 a0001c0001t0004g0022 a0001c0001t0004g0193 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0218 a0001c0001t0004g0225 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0239 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0258 a0001c0001t0004g0262 a0001c0001t0004g0265 a0001c0001t0005g0210 a0001c0001t0005g0224 a0001c0001t0005g0229 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0006g0006 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0190 a0001c0001t0006g0204 a0001c0001t0006g0208 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0216 a0001c0001t0006g0219 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0007g0002 a0001c0001t0007g0194 a0001c0001t0007g0217 a0001c0001t0007g0220 a0001c0001t0007g0222 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0263 a0001c0001t0009g0019 a0001c0001t0009g0174 a0001c0001t0009g0232 a0001c0001t0020g0006 a0001c0001t0022g0235 a0003c0003t0004g0234 a0008c0009t0007g0198	87	360	0.2417	34	c.29+ others(49): Show c.29+4835_29+4836insTGTGTGTGCATATGTGTATATATGCATATA TACA	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477452	A A	ATGTGTGC others(27): Show ATGTGTGCATATGTGTATATATGCATATATGCATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19007.hp1 NA19011.hp2 others(1): Show NA18971.hp1 NA19007.hp1 NA19011.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0013g0268 others(1): Show a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0013g0268 a0001c0001t0013g0269	4	360	0.0111	34	c.29+ others(49): Show c.29+4832_29+4833insGCATGTGTGTGCATATGTGTATATATGCAT ATAT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477457	T T	TGCATATG others(27): Show TGCATATGTGTATATATGCATATATACATGTGTGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0199 a0001c0010t0009g0199	1	360	0.0028	34	c.29+ others(49): Show c.29+4835_29+4836insTGTGTGCGCATATGTGTATATATGCATATA TACA	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477485	C C	CGTGTGTG others(27): Show CGTGTGTGCATATGTGTATATATGCATATATACAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	360	0.0028	34	c.29+ others(49): Show c.29+4869_29+4902dupATGTGTGTGCATATGTGTATATATGCATAT ATAC	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477496	A A	ATGTGTAT others(27): Show ATGTGTATATATGCATATATACATGTGTGTGCATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	360	0.0028	34	c.29+ others(49): Show c.29+4880_29+4881insGTGTGTATATATGCATATATACATGTGTGT GCAT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM17_chr19_56638159_56662247	56647429	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	418	0.0024	34	c.170 others(49): Show c.170-107_170-106insAGAGAGAGAGACAGAGAGAGAGAGAGAGAG AGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM36_chr17_55444856_55516452	55501249	T T	TATATTTT others(27): Show TATATTTTATATTTCATAATATATAATATAGTATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	340	0.0029	34	c.17 others(53): Show c.174+9629_*174+9630insTATACTATATTATATATTATGAAATA TAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG04199.hp2 HG02683.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	406	0.0049	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	406	0.0025	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	34	c.16 others(45): Show c.1695_*1696insTATATATATATATATATTTTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar

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