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
SLC9A7_chrX_46594251_46764118	46738031	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0187 a0001c0001t0013g0187	1	250	0.0040	-32	c.325 others(51): Show c.325+20642_325+20673delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49834405	GTATATAT others(25): Show GTATATATATATACTGTATATATATACTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG01975.hp2 others(3): Show HG01167.hp1 HG01496.hp2 HG01975.hp2 HG02717.hp1 HG02809.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008	a0001c0001t0002g0003 a0001c0001t0004g0132 a0001c0001t0004g0133 others(3): Show a0001c0001t0002g0003 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0003t0001g0051 a0001c0003t0003g0119 a0001c0003t0008g0168	6	360	0.0167	-32	c.290 others(49): Show c.290-5110_290-5079delCTGTATATATATATATATACTGTATATA TATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143743225	GGATGGAT others(25): Show GGATGGATGGATGGATGGATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	108	0.0093	-32	c.534 others(51): Show c.534-49950_534-49919delTATCTATCTATCTATCCATCCATCCA TCCATC	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15			chr3	TogoVar
SLCO5A1_chr8_69662046_69839978	69762118	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG00673.hp2 others(49): Show HG00544.hp2 HG00642.hp2 HG00673.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18959.hp2 NA18971.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19065.hp1 NA19088.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0013 a0014	a0001c0001 a0002c0002 a0002c0010 others(8): Show a0001c0001 a0002c0002 a0002c0010 a0003c0007 a0004c0005 a0006c0006 a0007c0009 a0008c0008 a0010c0019 a0013c0015 a0014c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0034 a0001c0001t0042 a0001c0001t0044 a0001c0001t0063 a0002c0002t0002 a0002c0002t0010 a0002c0010t0070 a0003c0007t0058 a0004c0005t0073 a0006c0006t0027 a0007c0009t0002 a0007c0009t0017 a0008c0008t0001 a0010c0019t0002 a0013c0015t0001 a0014c0016t0001	a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0178 others(49): Show a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0003g0020 a0001c0001t0003g0065 a0001c0001t0003g0193 a0001c0001t0003g0204 a0001c0001t0003g0234 a0001c0001t0003g0253 a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0001t0005g0130 a0001c0001t0005g0163 a0001c0001t0005g0173 a0001c0001t0005g0205 a0001c0001t0005g0242 a0001c0001t0007g0226 a0001c0001t0008g0238 a0001c0001t0011g0203 a0001c0001t0011g0218 a0001c0001t0011g0250 a0001c0001t0012g0175 a0001c0001t0012g0182 a0001c0001t0014g0208 a0001c0001t0034g0198 a0001c0001t0042g0209 a0001c0001t0044g0139 a0001c0001t0063g0214 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0010g0027 a0002c0010t0070g0009 a0003c0007t0058g0004 a0004c0005t0073g0045 a0006c0006t0027g0084 a0007c0009t0002g0035 a0007c0009t0017g0034 a0008c0008t0001g0131 a0010c0019t0002g0044 a0013c0015t0001g0023 a0014c0016t0001g0212	52	280	0.1857	-32	c.908 others(47): Show c.908-275_908-244delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLFN11_chr17_35345305_35378621	35378447	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0162 a0001c0040t0001g0162	1	466	0.0022	-32	c.-52 others(43): Show c.-5240_-5209delTATATATATATATATATATATATATATATATA	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		4827		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35476454	CAAGGAAG others(25): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG02965.hp1 others(3): Show HG02647.hp2 HG02818.hp2 HG02965.hp1 HG03453.hp2 NA18522.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0023 a0006c0008t0040 a0006c0008t0111 others(2): Show a0001c0001t0023 a0006c0008t0040 a0006c0008t0111 a0006c0008t0126 a0006c0008t0147	a0001c0001t0023g0079 a0006c0008t0040g0170 a0006c0008t0040g0181 others(3): Show a0001c0001t0023g0079 a0006c0008t0040g0170 a0006c0008t0040g0181 a0006c0008t0111g0180 a0006c0008t0126g0055 a0006c0008t0147g0167	6	360	0.0167	-32	c.127 others(50): Show c.1277-1001_1277-970delCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	4/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35539332	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(13): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01361.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0005c0006 a0006c0008 a0010c0016	a0001c0001t0039 a0001c0001t0110 a0001c0002t0018 others(6): Show a0001c0001t0039 a0001c0001t0110 a0001c0002t0018 a0001c0002t0136 a0002c0003t0124 a0003c0007t0022 a0005c0006t0005 a0006c0008t0040 a0010c0016t0099	a0001c0001t0039g0171 a0001c0001t0039g0174 a0001c0001t0110g0125 others(13): Show a0001c0001t0039g0171 a0001c0001t0039g0174 a0001c0001t0110g0125 a0001c0002t0018g0173 a0001c0002t0018g0175 a0001c0002t0018g0176 a0001c0002t0018g0178 a0001c0002t0136g0087 a0002c0003t0124g0179 a0003c0007t0022g0085 a0003c0007t0022g0086 a0003c0007t0022g0172 a0005c0006t0005g0060 a0006c0008t0040g0170 a0006c0008t0040g0181 a0010c0016t0099g0083	16	360	0.0444	-32	c.-23 others(43): Show c.-2397_-2366delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding		1655		chr17	TogoVar
SLFN13_chr17_35430096_35453766	35440267	AGTTTCTT others(25): Show AGTTTCTTATTTTTATGGCTTTTACCCAGAGAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0081 a0005c0005t0081	a0005c0005t0081g0093 a0005c0005t0081g0093	1	456	0.0022	-32	c.29 others(41): Show c.296_*327delCTCTCTGGGTAAAAGCCATAAAAATAAGAAAC	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding	6/6	296		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35539332	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01243.hp1 others(11): Show HG01081.hp1 HG01109.hp1 HG01243.hp1 HG01361.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0010t0015 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0010t0015 a0002c0002t0002 a0002c0002t0028 a0003c0003t0004 a0005c0005t0043	a0001c0001t0001g0055 a0001c0010t0015g0042 a0001c0010t0015g0043 others(7): Show a0001c0001t0001g0055 a0001c0010t0015g0042 a0001c0010t0015g0043 a0002c0002t0002g0012 a0002c0002t0002g0102 a0002c0002t0002g0105 a0002c0002t0028g0104 a0003c0003t0004g0003 a0003c0003t0004g0084 a0005c0005t0043g0125	14	428	0.0327	-32	c.88 others(43): Show c.8875_*8906delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		4652		chr17	TogoVar
SLIRP_chr14_77703103_77722598	77719534	AGGAGGCT others(25): Show AGGAGGCTGAGGCAGGAGAATCCCTTGAACCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-32	c.19 others(43): Show c.1974_*2005delGGAGGCTGAGGCAGGAGAATCCCTTGAACCTG	SLIRP	ENSG00000119705.10	transcript	ENST00000557342.6	protein_coding		1937		chr14	TogoVar
SLIT2_chr4_20246905_20625561	20291468	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG03453.hp1 others(1): Show HG02559.hp1 HG03130.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0013 a0001c0002t0070 a0001c0001t0007 a0001c0002t0013 a0001c0002t0070	a0001c0001t0007g0166 a0001c0001t0007g0169 a0001c0002t0013g0171 others(1): Show a0001c0001t0007g0166 a0001c0001t0007g0169 a0001c0002t0013g0171 a0001c0002t0070g0170	4	230	0.0174	-32	c.395 others(51): Show c.395+22589_395+22620delATATATATATATATATATATATATTT TTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291470	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG03041.hp2 others(9): Show HG02486.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 NA18944.hp1 NA18969.hp1 NA18994.hp1 NA19010.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0013 a0001c0001t0024 a0001c0001t0058 others(6): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0058 a0001c0001t0071 a0001c0001t0072 a0001c0002t0007 a0001c0002t0019 a0001c0002t0024 a0001c0007t0057	a0001c0001t0013g0165 a0001c0001t0013g0172 a0001c0001t0024g0010 others(9): Show a0001c0001t0013g0165 a0001c0001t0013g0172 a0001c0001t0024g0010 a0001c0001t0058g0008 a0001c0001t0071g0173 a0001c0001t0072g0180 a0001c0002t0007g0174 a0001c0002t0007g0175 a0001c0002t0007g0182 a0001c0002t0019g0181 a0001c0002t0024g0009 a0001c0007t0057g0007	12	230	0.0522	-32	c.395 others(51): Show c.395+22591_395+22622delATATATATATATATATATATATTTTT TTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168755389	ATTTCTTT others(25): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00735.hp1 others(41): Show HG00408.hp1 HG00639.hp2 HG00735.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18957.hp1 NA18989.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0014	a0001c0001 a0001c0003 a0001c0004 others(24): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0020 a0001c0026 a0001c0037 a0001c0041 a0001c0042 a0001c0047 a0001c0048 a0002c0002 a0003c0055 a0003c0057 a0004c0025 a0004c0036 a0005c0022 a0006c0034 a0007c0035 a0014c0064	a0001c0001t0001 a0001c0001t0025 a0001c0003t0016 others(35): Show a0001c0001t0001 a0001c0001t0025 a0001c0003t0016 a0001c0003t0017 a0001c0003t0032 a0001c0004t0006 a0001c0004t0010 a0001c0006t0002 a0001c0006t0035 a0001c0007t0015 a0001c0009t0003 a0001c0009t0012 a0001c0010t0008 a0001c0014t0009 a0001c0015t0006 a0001c0015t0017 a0001c0016t0008 a0001c0016t0038 a0001c0017t0001 a0001c0020t0037 a0001c0026t0004 a0001c0037t0013 a0001c0041t0001 a0001c0042t0034 a0001c0047t0011 a0001c0048t0004 a0002c0002t0005 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0003c0055t0010 a0003c0057t0020 a0004c0025t0006 a0004c0036t0010 a0005c0022t0023 a0006c0034t0012 a0007c0035t0004 a0014c0064t0015	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0072 others(41): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0025g0069 a0001c0003t0016g0007 a0001c0003t0016g0074 a0001c0003t0017g0050 a0001c0003t0032g0026 a0001c0004t0006g0060 a0001c0004t0010g0131 a0001c0006t0002g0043 a0001c0006t0035g0120 a0001c0007t0015g0054 a0001c0009t0003g0117 a0001c0009t0012g0035 a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0014t0009g0112 a0001c0015t0006g0070 a0001c0015t0017g0089 a0001c0016t0008g0080 a0001c0016t0038g0132 a0001c0017t0001g0029 a0001c0020t0037g0109 a0001c0026t0004g0067 a0001c0037t0013g0021 a0001c0041t0001g0053 a0001c0042t0034g0130 a0001c0047t0011g0012 a0001c0048t0004g0064 a0002c0002t0005g0082 a0002c0002t0018g0105 a0002c0002t0019g0107 a0002c0002t0024g0086 a0003c0055t0010g0115 a0003c0057t0020g0096 a0004c0025t0006g0013 a0004c0036t0010g0129 a0005c0022t0023g0004 a0006c0034t0012g0046 a0007c0035t0004g0049 a0014c0064t0015g0024	44	132	0.3333	-32	c.168 others(51): Show c.1686-1414_1686-1383delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35			chr5	TogoVar
SLX4IP_chr20_10430305_10633030	10518470	TTCTTTTC others(25): Show TTCTTTTCCTTTCCTTTCCTTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0078 a0002c0002t0005g0078	1	266	0.0038	-32	c.28- others(49): Show c.28-37759_28-37728delCTTTTCCTTTCCTTTCCTTTTCCTTCCT TCCT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850769	CATTATGT others(25): Show CATTATGTATAATATATATTATATATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp2 others(73): Show HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18971.hp1 NA18972.hp1 NA18980.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(58): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0128 a0001c0001t0133 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0174 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0187 a0001c0001t0188 a0001c0001t0191 a0001c0001t0192 a0001c0001t0194 a0001c0001t0195 a0001c0001t0198 a0001c0001t0256	a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 others(72): Show a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0113 a0001c0001t0007g0097 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0009g0081 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0021g0056 a0001c0001t0021g0057 a0001c0001t0022g0001 a0001c0001t0023g0088 a0001c0001t0023g0092 a0001c0001t0024g0077 a0001c0001t0128g0114 a0001c0001t0133g0095 a0001c0001t0135g0045 a0001c0001t0136g0100 a0001c0001t0137g0099 a0001c0001t0138g0038 a0001c0001t0139g0051 a0001c0001t0140g0098 a0001c0001t0141g0060 a0001c0001t0142g0050 a0001c0001t0143g0013 a0001c0001t0144g0053 a0001c0001t0145g0068 a0001c0001t0146g0037 a0001c0001t0147g0093 a0001c0001t0148g0109 a0001c0001t0149g0042 a0001c0001t0150g0066 a0001c0001t0151g0072 a0001c0001t0152g0078 a0001c0001t0153g0054 a0001c0001t0154g0091 a0001c0001t0155g0090 a0001c0001t0156g0104 a0001c0001t0157g0048 a0001c0001t0158g0064 a0001c0001t0159g0065 a0001c0001t0160g0086 a0001c0001t0161g0103 a0001c0001t0162g0040 a0001c0001t0163g0105 a0001c0001t0164g0009 a0001c0001t0165g0047 a0001c0001t0166g0043 a0001c0001t0167g0012 a0001c0001t0168g0107 a0001c0001t0169g0089 a0001c0001t0170g0087 a0001c0001t0174g0094 a0001c0001t0177g0036 a0001c0001t0178g0106 a0001c0001t0179g0070 a0001c0001t0180g0067 a0001c0001t0181g0076 a0001c0001t0182g0071 a0001c0001t0187g0108 a0001c0001t0188g0075 a0001c0001t0191g0082 a0001c0001t0192g0308 a0001c0001t0194g0010 a0001c0001t0195g0044 a0001c0001t0198g0080 a0001c0001t0256g0073	76	310	0.2452	-32	c.784 others(47): Show c.784+473_784+504delATATATAATATATAATATATATTATACATA AT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAGP_chr12_51239558_51275415	51248414	ACACACAC others(25): Show ACACACACACACACACACACACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0277 a0001c0002t0029g0277	1	410	0.0024	-32	c.35- others(47): Show c.35-1615_35-1584delAGAGAGAGAGAGTGTGTGTGTGTGTGTGTG TG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248428	ACACACAC others(25): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0162 a0001c0001t0011g0162	1	410	0.0024	-32	c.35- others(47): Show c.35-1629_35-1598delAGAGAGAGAGAGAGAGAGAGAGAGAGTGTG TG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCC2_chr12_56157359_56194483	56182766	CTTTTTAC others(25): Show CTTTTTACATAATCATAACCATACTAGATGATG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02572.hp1 others(6): Show HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 others(3): Show a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0157	9	250	0.0360	-32	c.633 others(47): Show c.633-719_633-688delCATCATCTAGTATGGTTATGATTATGTAAA AA	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	7/28			chr12	TogoVar
SMCO4_chr11_93473472_93548391	93543186	CCCCGCCC others(25): Show CCCCGCCCGGTGCCCGGTGCCCCGTGCCCCGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01106.hp1 others(20): Show HG00099.hp2 HG01070.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02083.hp2 HG02735.hp1 HG02738.hp2 HG03688.hp1 HG04115.hp2 NA18943.hp1 NA18956.hp1 NA19009.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0019	a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0002g0366 others(18): Show a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0003g0362 a0001c0002t0004g0351 a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0352 a0001c0003t0005g0353 a0001c0003t0005g0354 a0001c0003t0005g0355 a0001c0003t0005g0356 a0001c0003t0005g0357 a0001c0003t0005g0358 a0001c0003t0005g0359 a0001c0003t0005g0361 a0001c0003t0005g0363 a0001c0003t0015g0364 a0001c0003t0019g0360	23	412	0.0558	-32	c.-15 others(47): Show c.-154+58_-154+89delCGCGGGGCACGGGGCACCGGGCACCGGGCG GG	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp2 HG02109.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0003 a0001c0001t0015g0004 a0001c0001t0012g0003 a0001c0001t0015g0004	2	300	0.0067	-32	c.621 others(49): Show c.6219+923_6219+954delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG7_chr1_183467499_183559191	183477519	TGTGTGTG others(25): Show TGTGTGTGCATATGTGTATATATGCATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp1 HG02056.hp2 others(3): Show HG02015.hp2 HG02027.hp1 HG02056.hp2 HG03225.hp1 NA18612.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 a0001c0001t0001 a0001c0001t0010 a0001c0001t0017	a0001c0001t0001g0173 a0001c0001t0010g0186 a0001c0001t0010g0187 others(3): Show a0001c0001t0001g0173 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0010g0189 a0001c0001t0017g0185	6	360	0.0167	-32	c.29+ others(47): Show c.29+5041_29+5072delATGTGTATATATGCATATATACGTGTGTGC AT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM10L1_chr12_11166194_11181016	11168275	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01106.hp2 others(21): Show HG00408.hp2 HG00558.hp1 HG01106.hp2 HG01255.hp1 HG02602.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp2 NA19065.hp1 NA19065.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0022 a0001c0001t0036 a0001c0003t0001	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0022g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0022g0000 a0001c0001t0036g0000 a0001c0003t0001g0000	24	397	0.0605	-32	c.-30 others(43): Show c.-3081_-3050delGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2918		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168368	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03834.hp1 HG04228.hp1 others(1): Show HG00408.hp2 HG03834.hp1 HG04228.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	397	0.0101	-32	c.-29 others(43): Show c.-2988_-2957delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2825		chr12	TogoVar
SMIM14_chr4_39541336_39643865	39563891	CTCTTCTT others(25): Show CTCTTCTTCTTCCCCTTCTCTTCCTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0232 a0001c0001t0044g0232	1	344	0.0029	-32	c.125 others(49): Show c.125-7353_125-7322delAGAAGAAGAGGAAGAGAAGGGGAAGAAG AAGA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SMIM24_chr19_3468986_3485525	3477721	ATGGATGG others(25): Show ATGGATGGGTGAGTGGGTGAATGGGTGAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00735.hp1 others(38): Show HG00408.hp1 HG00642.hp1 HG00735.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG03239.hp2 HG03490.hp1 NA18612.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18992.hp1 NA19004.hp1 NA19007.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19086.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0005c0005t0003 a0001c0001t0003 a0005c0005t0003	a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0053 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0053 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0099 a0005c0005t0003g0067	41	422	0.0972	-32	c.239 others(47): Show c.239+666_239+697delCCCACTCACCCATTCACCCACTCACCCATC CA	SMIM24	ENSG00000095932.7	transcript	ENST00000215531.6	protein_coding	3/3			chr19	TogoVar
SMIM35_chr11_117998634_118091963	118048537	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(62): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18944.hp1 NA18955.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp2 NA18985.hp2 NA18990.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19064.hp1 NA19070.hp1 NA19082.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0002c0002t0002 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0148 others(62): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0148 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0261 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0208 a0001c0001t0003g0042 a0001c0001t0003g0094 a0001c0001t0003g0145 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0305 a0001c0001t0003g0309 a0001c0001t0004g0090 a0001c0001t0004g0150 a0001c0001t0004g0191 a0001c0001t0004g0198 a0001c0001t0006g0091 a0001c0001t0006g0213 a0001c0001t0006g0216 a0001c0001t0006g0302 a0001c0001t0006g0306 a0001c0001t0012g0219 a0001c0001t0014g0404 a0001c0001t0015g0220 a0001c0001t0016g0149 a0001c0001t0016g0303 a0001c0001t0018g0170 a0001c0001t0018g0176 a0002c0002t0002g0194 a0002c0002t0007g0087 a0002c0002t0007g0167 a0002c0002t0007g0214 a0002c0002t0007g0215 a0002c0002t0007g0218 a0003c0003t0013g0165 a0003c0003t0013g0169 a0003c0003t0013g0217 a0003c0003t0013g0301	65	408	0.1593	-32	c.8-3 others(47): Show c.8-32760_8-32729delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM44_chr19_3477110_3488441	3477721	ATGGATGG others(25): Show ATGGATGGGTGAGTGGGTGAATGGGTGAGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00735.hp1 others(39): Show HG00408.hp2 HG00642.hp1 HG00735.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG03239.hp1 HG03490.hp2 NA18612.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	42	400	0.1050	-32	c.50 others(43): Show c.5051_*5082delCCCACTCACCCATTCACCCACTCACCCATCCA	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		4388		chr19	TogoVar
SMN1_chr5_70920087_70958015	70954871	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02486.hp2 others(7): Show HG02109.hp1 HG02258.hp1 HG02486.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	10	36	0.2778	-32	c.24 others(43): Show c.2437_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1857		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168615514	GGTCTCTT others(25): Show GGTCTCTTCATCTTCATACTTACAGCCGGCACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 NA18906.hp2 others(1): Show HG02922.hp1 HG03139.hp1 NA18906.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0002t0002g0011 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0002t0002g0011 a0001c0005t0001g0126	4	180	0.0222	-32	c.907 others(49): Show c.907+7277_907+7308delTCTCTTCATCTTCATACTTACAGCCGGC ACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618390	GAGGAGAG others(25): Show GAGGAGAGTGGAGGAAAGGCGGGTAGTGGCATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(41): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02559.hp1 HG02602.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03492.hp1 HG03516.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA19000.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0005 a0001c0005t0001 a0001c0013t0002	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 others(41): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0149 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0002t0005g0069 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0005t0001g0126 a0001c0013t0002g0033	44	180	0.2444	-32	c.907 others(51): Show c.907+10166_907+10197delAAGGCGGGTAGTGGCATTAGGAGAGT GGAGGA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618405	AAGGCGGG others(25): Show AAGGCGGGTAGTGGCATTAGGAGAGTGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG03195.hp2 others(5): Show HG02630.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0011t0006	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0002t0002g0003 a0001c0002t0002g0063 a0001c0002t0008g0045 a0001c0011t0006g0167	8	180	0.0444	-32	c.907 others(51): Show c.907+10249_907+10280delGGAGAGTGGAGGAGAGGCGGGTAGTG GCATTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPX_chrX_21700978_21763116	21728214	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	289	0.0035	-32	c.14 others(49): Show c.14+9303_*14+9334delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4608044	CAGATGAC others(25): Show CAGATGACCTTCAAGTCACCTCCGCTCTCCGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0188 a0001c0003t0012g0188	1	442	0.0023	-32	c.55 others(41): Show c.558_*589delAGATGACCTTCAAGTCACCTCCGCTCTCCGGG	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	8/8	558		chr17	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	264	0.0038	-32	c.56- others(47): Show c.56-1436_56-1405delTATATATATATATATATATATATATATATA TA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065230	CCTCCCCT others(25): Show CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03579.hp2 NA19043.hp2 HG02280.hp1 HG03579.hp2 NA19043.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0094 a0002c0006t0001g0095 a0002c0006t0001g0181 a0002c0006t0001g0094 a0002c0006t0001g0095 a0002c0006t0001g0181	3	338	0.0089	-32	c.-26 others(43): Show c.-2634_-2603delCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2594		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245879902	CAGCACAG others(25): Show CAGCACAGGTGCGTTGCTGTACACACCAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	150	0.0067	-32	c.814 others(51): Show c.814-16048_814-16017delATCTCTGGTGTGTACAGCAACGCACC TGTGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	8/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378838	TTATATAT others(25): Show TTATATATAATATATTTATATAGTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	150	0.0067	-32	c.165 others(51): Show c.165-23776_165-23745delTTTATATATACTATATAAATATATTA TATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAI1_chr20_49977980_49993886	49978464	CATATATA others(25): Show CATATATACATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00738.hp1 others(95): Show HG00323.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 others(5): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0002c0002t0002 a0002c0002t0007 a0002c0002t0016 a0002c0002t0018 a0004c0005t0002	a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0024 others(9): Show a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0024 a0001c0001t0010g0009 a0001c0001t0017g0013 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0007g0002 a0002c0002t0016g0002 a0002c0002t0018g0020 a0004c0005t0002g0002	98	440	0.2227	-32	c.-45 others(43): Show c.-4595_-4564delATATATACATATATATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4515		chr20	TogoVar
SNAP25_chr20_10213830_10312418	10282146	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGATGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG02895.hp1 others(2): Show HG02615.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0014 a0001c0001t0006g0226 a0001c0001t0006g0230 others(2): Show a0001c0001t0001g0014 a0001c0001t0006g0226 a0001c0001t0006g0230 a0001c0001t0006g0239 a0001c0001t0008g0237	5	340	0.0147	-32	c.115 others(49): Show c.115-2562_115-2531delTGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03942.hp2 NA18983.hp2 HG03516.hp1 HG03942.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0002g0104 a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0002g0104	3	262	0.0115	-32	c.166 others(53): Show c.1669+23861_1669+23892delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	240997118	CAGGCTCT others(25): Show CAGGCTCTCACCGAGAGCCGGCCTCAAGTAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0014 a0002c0010t0014	a0002c0010t0014g0038 a0002c0010t0014g0038	1	344	0.0029	-32	c.-17 others(43): Show c.-1719_-1688delAGGCTCTCACCGAGAGCCGGCCTCAAGTAGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding		1499		chr2	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01074.hp2 others(5): Show HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG02258.hp1 HG02451.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0002 a0001c0001t0015 a0001c0008t0001 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0008t0001 a0001c0011t0021	a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0226 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0226 a0001c0001t0002g0235 a0001c0001t0015g0225 a0001c0008t0001g0024 a0001c0011t0021g0017	8	258	0.0310	-32	c.732 others(47): Show c.732-444_732-413delATATATATATATATATATATATATATATAT AT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPD3_chr22_24550999_24579971	24575517	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	400	0.0025	-32	c.35 others(43): Show c.3541_*3572delCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding		547		chr22	TogoVar
SNTG1_chr8_49906407_50801692	50734776	TATAGATA others(25): Show TATAGATATCTATATATATGGACATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0043 a0002c0003t0043	a0002c0003t0043g0050 a0002c0003t0043g0050	1	106	0.0094	-32	c.128 others(53): Show c.1285-17221_1285-17190delGATATCTATATATATGGACATATA TATAGATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0127 a0023c0027t0001g0127	1	190	0.0053	-32	c.72+ others(49): Show c.72+54776_72+54807delTATATATATATATATATATATATATATA TATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056786	AGGGAGGG others(25): Show AGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp1 HG02683.hp1 HG01106.hp2 HG01891.hp1 HG02683.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0008 a0004c0004 a0002c0003 a0003c0008 a0004c0004	a0002c0003t0001 a0003c0008t0001 a0004c0004t0001 a0002c0003t0001 a0003c0008t0001 a0004c0004t0001	a0002c0003t0001g0148 a0003c0008t0001g0013 a0004c0004t0001g0089 a0002c0003t0001g0148 a0003c0008t0001g0013 a0004c0004t0001g0089	3	190	0.0158	-32	c.73- others(49): Show c.73-26720_73-26689delCGTCGCGCTGTGCTGTGGGGCGGGAGGG AGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1116998	CGAGTGCC others(25): Show CGAGTGCCCTGGTGTGTGGGTGCTCTGGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	190	0.0053	-32	c.325 others(51): Show c.325+18622_325+18653delAGTGCCCTGGTGTGTGGGTGCTCTGG TGTGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1190495	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02647.hp1 others(3): Show HG02486.hp1 HG02615.hp1 HG02647.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0007 a0005c0015 a0011c0018 a0003c0007 a0005c0015 a0011c0018	a0003c0007t0001 a0003c0007t0002 a0005c0015t0001 others(1): Show a0003c0007t0001 a0003c0007t0002 a0005c0015t0001 a0011c0018t0001	a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 others(3): Show a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0005c0015t0001g0153 a0011c0018t0001g0045	6	190	0.0316	-32	c.591 others(51): Show c.591+17326_591+17357delATATATATATATATATATATATATAT ATATAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222095	GTCTCTCT others(25): Show GTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0012 a0006c0010t0001g0012	1	190	0.0053	-32	c.719 others(51): Show c.719+12873_719+12904delCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842523	AGAAAGAG others(25): Show AGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01261.hp1 HG02280.hp1 others(2): Show HG00423.hp1 HG01261.hp1 HG02280.hp1 HG03654.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003	a0001c0001t0002g0002 a0001c0001t0004g0026 a0001c0001t0005g0030 others(2): Show a0001c0001t0002g0002 a0001c0001t0004g0026 a0001c0001t0005g0030 a0001c0002t0003g0076 a0001c0002t0003g0082	5	306	0.0163	-32	c.-53 others(41): Show c.-530_-499delGCTCTCTCCCTCGCTCGTTTTCTTTCTCTTTC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		339		chr8	TogoVar

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