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
S100A9_chr1_153352854_153366023	153360216	CTGAATTT others(23): Show CTGAATTTGCATGCCCTCAATAGTCAAGCTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	462	0.0022	-30	c.151 others(45): Show c.151-423_151-394delTTTGCATGCCCTCAATAGTCAAGCTGTGAA	S100A9	ENSG00000163220.11	transcript	ENST00000368738.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100Z_chr5_76845014_76926650	76906974	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp2 HG01258.hp1 others(15): Show HG00741.hp1 HG01257.hp2 HG01258.hp1 HG02027.hp2 NA18944.hp1 NA18947.hp1 NA18956.hp2 NA18982.hp1 NA18983.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0187 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0321	18	348	0.0517	-30	c.3- others(47): Show c.3-13741_*3-13712delGTATATATATATATATATATATATATAT AT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906976	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	348	0.0029	-30	c.3- others(47): Show c.3-13722_*3-13693delTATATATATATATATATATATATATATA TA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAMD15_chr14_77372379_77397163	77372932	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0144	1	314	0.0032	-30	c.-44 others(41): Show c.-4486_-4457delTATATATATATATATATATATTTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4446		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	314	0.0032	-30	c.-44 others(41): Show c.-4484_-4455delTATATATATATATATATATTTTTTTTTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4444		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54568690	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20129.hp1 HG00733.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0039 a0001c0001t0022 a0001c0001t0039	a0001c0001t0022g0001 a0001c0001t0039g0002 a0001c0001t0022g0001 a0001c0001t0039g0002	2	262	0.0076	-30	c.196 others(45): Show c.196+600_196+629delTATATATATATATATATATATATATATATA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54626047	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	262	0.0038	-30	c.196 others(49): Show c.196+57939_196+57968delTGTGTGTGTGCGCGCGCGCGCGCGCG AGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18955.hp2 NA19066.hp2 HG03540.hp2 NA18955.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0262 a0001c0001t0007g0086 a0001c0001t0008g0004 a0001c0001t0002g0262 a0001c0001t0007g0086 a0001c0001t0008g0004	3	262	0.0115	-30	c.197 others(49): Show c.197-23575_197-23546delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0278 a0001c0023t0007g0278	1	322	0.0031	-30	c.628 others(45): Show c.628-649_628-620delATATATATATATATATATATATATATATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148537776	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02109.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0008 a0001c0001t0002 a0002c0004t0008	a0001c0001t0002g0086 a0002c0004t0008g0255 a0001c0001t0002g0086 a0002c0004t0008g0255	2	322	0.0062	-30	c.209 others(49): Show c.2096-2640_2096-2611delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATB2_chr2_199264505_199462939	199355215	AGTGTGTA others(23): Show AGTGTGTATATATGTGTATATATACAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	254	0.0039	-30	c.701 others(47): Show c.701-6072_701-6043delATCCTTGTATATATACACATATATACAC AC	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	6/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85156813	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01258.hp1 others(42): Show HG00438.hp1 HG00621.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp1 HG02970.hp1 HG03490.hp1 HG04115.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18967.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19089.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0003c0003 a0012c0013	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0003c0003t0001 a0012c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0061 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0224 a0002c0002t0001g0081 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0219 a0002c0012t0001g0139 a0003c0003t0001g0112 a0003c0003t0001g0135 a0012c0013t0001g0062	45	232	0.1940	-30	c.-31 others(51): Show c.-312-47563_-312-47534delTATATATATATATATATATATATA TATATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10055524	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0194 a0001c0012t0005g0194	1	224	0.0045	-30	c.142 others(49): Show c.142-12573_142-12544delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28322917	GCGCTCTC others(23): Show GCGCTCTCTCTCTCCCTCTCTCTCTCTCTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 NA18971.hp2 NA19000.hp1 others(3): Show HG00735.hp1 NA18971.hp2 NA19000.hp1 NA19062.hp1 NA19064.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0143 a0001c0002t0194 a0001c0001t0021 a0001c0001t0143 a0001c0002t0194	a0001c0001t0021g0087 a0001c0001t0021g0090 a0001c0001t0021g0091 others(3): Show a0001c0001t0021g0087 a0001c0001t0021g0090 a0001c0001t0021g0091 a0001c0001t0021g0149 a0001c0001t0143g0055 a0001c0002t0194g0123	6	384	0.0156	-30	c.19 others(41): Show c.1998_*2027delGCTCTCTCTCTCCCTCTCTCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	1998	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55539944	CACATGTG others(23): Show CACATGTGTGTGTGCGCGCGTGTGTGTGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0015 a0001c0021t0015	a0001c0021t0015g0183 a0001c0021t0015g0183	1	434	0.0023	-30	c.-29 others(41): Show c.-2923_-2894delATGCACACACACGCGCGCACACACACATGT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		2812		chr19	TogoVar
SBK3_chr19_55535656_55550543	55539944	CACATGTG others(23): Show CACATGTGTGTGTGCGCGCGTGTGTGTGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	438	0.0023	-30	c.87 others(39): Show c.872_*901delATGCACACACACGCGCGCACACACACATGT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		711		chr19	TogoVar
SBK3_chr19_55535656_55550543	55548934	AAAATTAA others(23): Show AAAATTAAATTAAATAAAAAATAAAAAATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-30	c.-34 others(41): Show c.-3421_-3392delAAATTTTTTATTTTTTATTTAATTTAATTT	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3392		chr19	TogoVar
SCAF11_chr12_45914131_45995574	45972865	GATATATA others(23): Show GATATATATATATATAGATATATATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp2 others(79): Show HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0005 a0011 others(1): Show a0001 a0005 a0011 a0015	a0001c0001 a0001c0006 a0001c0023 others(4): Show a0001c0001 a0001c0006 a0001c0023 a0001c0025 a0005c0009 a0011c0027 a0015c0024	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0006t0001 a0001c0023t0015 a0001c0025t0001 a0005c0009t0001 a0011c0027t0022 a0015c0024t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0017 others(74): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0297 a0001c0001t0012g0304 a0001c0001t0014g0168 a0001c0001t0021g0312 a0001c0006t0001g0223 a0001c0006t0001g0241 a0001c0006t0001g0242 a0001c0006t0001g0243 a0001c0006t0001g0252 a0001c0006t0001g0264 a0001c0023t0015g0139 a0001c0025t0001g0209 a0005c0009t0001g0147 a0005c0009t0001g0148 a0005c0009t0001g0149 a0005c0009t0001g0167 a0011c0027t0022g0311 a0015c0024t0001g0132	82	344	0.2384	-30	c.-21 others(47): Show c.-21-8707_-21-8678delATCTATATATATATCTATATATATATAT AT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	382	0.0026	-30	c.15 others(41): Show c.1586_*1615delACACACACACACACACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154784120	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0257 a0001c0008t0002g0257	1	282	0.0036	-30	c.160 others(47): Show c.160-3732_160-3703delATATATATATATATATATATATATATAT AT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125004753	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0303 a0001c0001t0022g0303	1	306	0.0033	-30	c.862 others(47): Show c.862-1213_862-1184delAAAATATATATATATATATATATATATA TA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004755	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0286 a0001c0001t0023g0286	1	306	0.0033	-30	c.862 others(47): Show c.862-1215_862-1186delAAAAAATATATATATATATATATATATA TA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460797	CTTCCTTC others(23): Show CTTCCTTCCTCCCTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp1 others(15): Show HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01358.hp2 HG01981.hp1 HG02148.hp1 HG02257.hp1 HG02602.hp2 HG02622.hp1 HG03130.hp2 NA18942.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA19054.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 others(15): Show a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0021g0109 a0001c0001t0021g0110	18	332	0.0542	-30	c.852 others(47): Show c.852+1436_852+1465delTTCCTTCCTCCCTTCCTTCCTTCCTTTC TT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874649	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0073 a0001c0001t0010g0074 a0001c0001t0010g0073 a0001c0001t0010g0074	2	386	0.0052	-30	c.-14 others(41): Show c.-1424_-1395delATATATATATATATATATTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1285		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874651	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02818.hp1 others(4): Show HG02257.hp2 HG02451.hp1 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0028 a0001c0001t0005 a0001c0001t0010 a0001c0001t0028	a0001c0001t0005g0153 a0001c0001t0010g0139 a0001c0001t0010g0140 others(4): Show a0001c0001t0005g0153 a0001c0001t0010g0139 a0001c0001t0010g0140 a0001c0001t0010g0142 a0001c0001t0010g0143 a0001c0001t0010g0216 a0001c0001t0028g0154	7	386	0.0181	-30	c.-14 others(41): Show c.-1426_-1397delATATATATATATATATATATTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1287		chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	314	0.0032	-30	c.63 others(41): Show c.6327_*6356delTATATATATATATATATATATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCCPDH_chr1_246719409_246773137	246722502	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0263 a0001c0001t0005g0263	1	410	0.0024	-30	c.-19 others(41): Show c.-1920_-1891delATATATATATATATATATATATATATATAT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		1906		chr1	TogoVar
SCD5_chr4_82624539_82803796	82670642	CATATCAA others(23): Show CATATCAATTCCATATCAATTGATATGGCAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0202 a0001c0004t0031g0202	1	210	0.0048	-30	c.569 others(49): Show c.569+10035_569+10064delTTGCCATATCAATTGATATGGAATTG ATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77646200	GTGACAGA others(23): Show GTGACAGATTCCCAAAACAACTTACAAGATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0114 a0002c0001t0001g0114	1	356	0.0028	-30	c.19 others(41): Show c.1927_*1956delTGACAGATTCCCAAAACAACTTACAAGATC	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding		938		chr13	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	328	0.0031	-30	c.149 others(49): Show c.1490+1559_1490+1588delTATATATATATATATATATATATATA TATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703934	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03669.hp1 NA19084.hp2 others(1): Show HG02109.hp1 HG03669.hp1 NA19084.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0195	4	328	0.0122	-30	c.149 others(49): Show c.1490+1563_1490+1592delTATATATATATATATATATATATATA AATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCGB1C2_chr17_132569_144067	136386	AACCCTAA others(23): Show AACCCTAACCCTAACCCTAACCCTAACCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG03098.hp1 others(1): Show HG02257.hp2 HG02895.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0011 a0001c0001t0001g0018	4	402	0.0100	-30	c.-12 others(41): Show c.-1204_-1175delACCCTAACCCTAACCCTAACCCTAACCCCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1182		chr17	TogoVar
SCGB3A1_chr5_180585105_180596499	180594837	TGGGTGTG others(23): Show TGGGTGTGTGTGGGTGTGTGGGTGTGTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03139.hp2 HG03579.hp1 HG02723.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0009 a0001c0001t0001g0016	3	470	0.0064	-30	c.-34 others(41): Show c.-3405_-3376delCCACACACACCCACACACCCACACACACCC	SCGB3A1	ENSG00000161055.4	transcript	ENST00000292641.4	protein_coding		3339		chr5	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(23): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01109.hp2 others(15): Show HG00323.hp2 HG00733.hp1 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02559.hp1 HG02622.hp1 HG03654.hp2 HG03669.hp1 HG04184.hp1 NA18978.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0008c0010t0003	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 others(14): Show a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0003g0043 a0008c0010t0003g0034	18	368	0.0489	-30	c.154 others(47): Show c.154-3549_154-3520delCTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10			chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp2 HG01069.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0164 a0001c0001t0003g0229 a0001c0001t0001g0164 a0001c0001t0003g0229	2	368	0.0054	-30	c.154 others(47): Show c.154-3524_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159505125	TGAGATGT others(23): Show TGAGATGTAGAGTGGGAGGGCATGATAAACC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	100	0.0100	-30	c.63+ others(49): Show c.63+231243_63+231272delGAGATGTAGAGTGGGAGGGCATGATA AACC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159626210	ATATCTAG others(23): Show ATATCTAGATATATATATATCTAGATATATC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG03195.hp2 others(2): Show HG01884.hp1 HG02723.hp1 HG03195.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0056	5	100	0.0500	-30	c.64- others(49): Show c.64-138226_64-138197delGATATATATATATCTAGATATATCTA TCTA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	TATATATA others(23): Show TATATATAATATATGTATATATATAATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG03098.hp1 others(2): Show HG01891.hp2 HG02572.hp1 HG03098.hp1 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0081 a0001c0002t0001g0033 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0081 a0001c0002t0001g0033 a0001c0002t0001g0057 a0001c0002t0001g0076	5	100	0.0500	-30	c.64- others(47): Show c.64-83722_64-83693delTATATATATAATATACATATATAATATA TG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5227555	AGTGACAC others(23): Show AGTGACACTGAATAGAACCAGAGAGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0310 a0001c0003t0005g0310	1	386	0.0026	-30	c.22- others(45): Show c.22-4129_22-4100delCCCCTTCTCTCTGGTTCTATTCAGTGTCAC	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCML4_chr6_107697154_107829313	107778208	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18950.hp1 HG02056.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0168 a0001c0001t0004g0222 a0001c0001t0002g0168 a0001c0001t0004g0222	2	250	0.0080	-30	c.-59 others(47): Show c.-59-5852_-59-5823delATATATATATATATATTTTTTTTTTTTT TT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813395	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18985.hp2 NA19056.hp2 others(1): Show NA18951.hp1 NA18985.hp2 NA19056.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0016 a0001c0001t0002 a0001c0003t0016	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0003t0016g0007 others(1): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0003t0016g0007 a0001c0003t0016g0052	4	250	0.0160	-30	c.-60 others(49): Show c.-60+10701_-60+10730delTTATATATATATATATATATATATAT ATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN11A_chr3_38840764_39056944	38889802	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0195 a0001c0002t0004g0195	1	314	0.0032	-30	c.283 others(49): Show c.2836-3594_2836-3565delATTTTATTTTATTTTATTTTATTTTA TTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938536	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0249 a0001c0005t0001g0249	1	314	0.0032	-30	c.488 others(47): Show c.488+6845_488+6874delAAAAAAAAAAAAAAAATATATATATATA TA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39049124	AAAAGGAA others(23): Show AAAAGGAACAGGAAAAAAGAGTGCTGAATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0311 a0001c0007t0005g0311	1	314	0.0032	-30	c.-40 others(49): Show c.-404+2707_-404+2736delATATTCAGCACTCTTTTTTCCTGTTC CTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN3B_chr11_123624188_123659624	123644790	AGAGAGAG others(23): Show AGAGAGAGAGAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG03516.hp1 others(2): Show HG02055.hp2 HG02451.hp2 HG03516.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0010 a0001c0001t0013	a0001c0001t0010g0006 a0001c0001t0013g0176 a0001c0001t0010g0006 a0001c0001t0013g0176	5	450	0.0111	-30	c.219 others(45): Show c.219+767_219+796delATATATATATATATATATATTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN7A_chr2_166398573_166499249	166414267	CACACATA others(23): Show CACACATATATATATATATACACACACATAT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	394	0.0025	-30	c.341 others(49): Show c.3415-1176_3415-1147delATATGTGTGTGTATATATATATATAT GTGT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191671	ATATATAT others(23): Show ATATATATATACACACACATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0009 a0004c0038t0009	a0004c0038t0009g0281 a0004c0038t0009g0281	1	296	0.0034	-30	c.69 others(41): Show c.6971_*7000delCATATATATATATGTGTGTGTATATATATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3513		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311329	CCTATATA others(23): Show CCTATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG03139.hp1 HG02145.hp2 HG02486.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0001c0007 a0002c0009	a0001c0007t0001 a0001c0007t0024 a0002c0009t0004 a0001c0007t0001 a0001c0007t0024 a0002c0009t0004	a0001c0007t0001g0060 a0001c0007t0024g0050 a0002c0009t0004g0036 a0001c0007t0001g0060 a0001c0007t0024g0050 a0002c0009t0004g0036	3	296	0.0101	-30	c.258 others(45): Show c.258+140_258+169delATATATATATATATATATATATATATATAG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCT_chr11_621309_632181	627743	CCGTTCAC others(23): Show CCGTTCACAGACGCTCCCGTCCTCCCAAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(85): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18967.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19070.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0013 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0013 a0001c0003t0001g0004 a0004c0005t0001g0009	88	411	0.2141	-30	c.-63 others(39): Show c.-630_-601delATTTTGGGAGGACGGGAGCGTCTGTGAACG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		563		chr11	TogoVar
SCT_chr11_621309_632181	628925	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01081.hp1 others(16): Show HG00408.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01981.hp2 HG02273.hp2 HG02451.hp2 HG02735.hp1 HG03017.hp2 HG03195.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA19001.hp2 NA19004.hp2 NA19066.hp1 NA19080.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	19	411	0.0462	-30	c.-18 others(41): Show c.-1812_-1783delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1745		chr11	TogoVar

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