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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
STON1_chr2_48525154_48603513	48532034	AAACATCA others(14): Show AAACATCATTAAGGCAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp1 others(35): Show HG00099.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01516.hp1 HG02040.hp2 HG02055.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18906.hp1 NA19030.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0020	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0019c0028 a0020c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0031 a0001c0003t0033 a0002c0002t0001 a0002c0002t0002 a0002c0002t0032 a0019c0028t0001 a0020c0022t0001	a0001c0001t0001g0182 a0001c0001t0001g0338 a0001c0001t0001g0347 others(35): Show a0001c0001t0001g0182 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0003g0345 a0001c0001t0003g0353 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0356 a0001c0001t0006g0361 a0001c0001t0015g0337 a0001c0001t0015g0373 a0001c0003t0001g0184 a0001c0003t0002g0179 a0001c0003t0002g0183 a0001c0003t0002g0185 a0001c0003t0031g0363 a0001c0003t0033g0180 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0002g0178 a0002c0002t0002g0342 a0002c0002t0002g0362 a0002c0002t0032g0181 a0019c0028t0001g0339 a0020c0022t0001g0346	38	376	0.1011	-21	c.-48 others(38): Show c.-48+1840_-48+1860delAACATCATTAAGGCAGGGCAC		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564465	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18977.hp1 NA18963.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0254 a0001c0003t0007g0056 a0001c0001t0001g0254 a0001c0003t0007g0056	2	376	0.0053	-21	c.-47 others(40): Show c.-47-16120_-47-16100delCTTCTTCTTCTTCTTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564468	TTCTTCTT others(14): Show TTCTTCTTCTTCTTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	376	0.0027	-21	c.-47 others(40): Show c.-47-16117_-47-16097delCTTCTTCTTCTTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564471	TTCTTCTT others(14): Show TTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18962.hp2 HG01168.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0013 a0001c0001t0006 a0001c0003t0013	a0001c0001t0006g0361 a0001c0003t0013g0331 a0001c0001t0006g0361 a0001c0003t0013g0331	2	376	0.0053	-21	c.-47 others(40): Show c.-47-16114_-47-16094delCTTCTTCTTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564474	TTCTTCTT others(14): Show TTCTTCTTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0312 a0001c0001t0006g0312	1	376	0.0027	-21	c.-47 others(40): Show c.-47-16111_-47-16091delCTTCTTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564477	TTCTTTCT others(14): Show TTCTTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	376	0.0027	-21	c.-47 others(40): Show c.-47-16108_-47-16088delCTTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564578	TCTCCTCC others(14): Show TCTCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG01255.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0005 a0001c0008t0004 a0001c0003t0005 a0001c0008t0004	a0001c0003t0005g0284 a0001c0008t0004g0368 a0001c0003t0005g0284 a0001c0008t0004g0368	2	376	0.0053	-21	c.-47 others(40): Show c.-47-16003_-47-15983delCCTCCTCCTCCTCCTCCTCCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183932303	GTGTATAC others(14): Show GTGTATACATACAGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01069.hp2 others(19): Show HG00544.hp1 HG00558.hp2 HG01069.hp2 HG01192.hp1 HG01255.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 NA18943.hp1 NA18950.hp2 NA18987.hp2 NA19012.hp2 NA19064.hp2 NA19068.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0034 a0001c0001t0049 a0001c0001t0106 a0001c0002t0002 a0001c0002t0003 a0001c0002t0041	a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0205 others(19): Show a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0290 a0001c0001t0006g0054 a0001c0001t0006g0086 a0001c0001t0006g0288 a0001c0001t0015g0218 a0001c0001t0034g0258 a0001c0001t0049g0207 a0001c0001t0106g0024 a0001c0002t0002g0070 a0001c0002t0002g0177 a0001c0002t0002g0254 a0001c0002t0002g0265 a0001c0002t0003g0242 a0001c0002t0041g0119	22	318	0.0692	-21	c.166 others(40): Show c.166+25521_166+25541delACATACAGTATATGTATGTAT		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
STOX2_chr4_183900307_184028526	183990578	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(45): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02148.hp2 HG02165.hp1 HG02602.hp1 HG02602.hp2 HG02723.hp2 HG02738.hp1 HG03209.hp1 HG03239.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18954.hp1 NA18968.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA19056.hp2 NA19064.hp2 NA19068.hp2 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0056 a0001c0001t0104 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0017 a0001c0002t0047 a0001c0002t0048 a0001c0002t0061 a0001c0002t0066 a0001c0002t0084 a0004c0008t0018	a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0062 others(45): Show a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0296 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0010g0076 a0001c0001t0056g0240 a0001c0001t0104g0072 a0001c0002t0002g0009 a0001c0002t0002g0026 a0001c0002t0002g0059 a0001c0002t0002g0102 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0157 a0001c0002t0002g0177 a0001c0002t0002g0185 a0001c0002t0002g0254 a0001c0002t0003g0116 a0001c0002t0003g0242 a0001c0002t0005g0082 a0001c0002t0005g0098 a0001c0002t0012g0107 a0001c0002t0012g0143 a0001c0002t0017g0189 a0001c0002t0047g0247 a0001c0002t0048g0248 a0001c0002t0061g0305 a0001c0002t0066g0278 a0001c0002t0084g0300 a0004c0008t0018g0126	48	318	0.1509	-21	c.167 others(40): Show c.167-10730_167-10710delTTTTTTTTTTTTTTTTTTTTT		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
STPG1_chr1_24351999_24418782	24406491	TTCTAGTG others(14): Show TTCTAGTGTCATAGTCCTTCTA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0042 a0003c0003t0003g0042	1	358	0.0028	-21	c.-68 others(38): Show c.-68-5056_-68-5036delTAGAAGGACTATGACACTAGA		STPG1	ENSG00000001460.18	transcript	ENST00000337248.9	protein_coding	1/8						chr1	TogoVar
STPG2_chr4_97553872_98148476	97599833	AAAAAGAA others(14): Show AAAAAGAAAAGAAAAGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	266	0.0038	-21	c.132 others(42): Show c.1321-40737_1321-40717delCCTTTTCTTTTCTTTTCTTTT		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10						chr4	TogoVar
STPG2_chr4_97553872_98148476	98082433	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(38): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01123.hp1 HG01168.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01981.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 NA18612.hp2 NA18939.hp2 NA18957.hp1 NA18960.hp2 NA18970.hp1 NA18986.hp1 NA19005.hp1 NA19060.hp2 NA19063.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0001c0001t0001 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0137 others(38): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0257 a0001c0002t0001g0139 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0164 a0001c0002t0001g0180 a0001c0002t0001g0207 a0001c0002t0001g0249 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0107	41	266	0.1541	-21	c.612 others(40): Show c.612+23499_612+23519delAAAAAAAAAAAAAAAAAAAAA		STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10						chr4	TogoVar
STRA6_chr15_74174466_74207787	74177563	TGTACAGC others(14): Show TGTACAGCAACCTGAGCGGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0058 a0005c0006t0010g0058	1	360	0.0028	-21	c.24 others(32): Show c.2496_*2516delGCACCGCTCAGGTTGCTGTAC		STRA6	ENSG00000137868.19	transcript	ENST00000395105.9	protein_coding					1902		chr15	TogoVar
STRIP1_chr1_110029624_110059641	110030816	TAATAATT others(14): Show TAATAATTCTCCTTTTTTTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	406	0.0025	-21	c.-38 others(32): Show c.-3821_-3801delAATAATTCTCCTTTTTTTAAA		STRIP1	ENSG00000143093.15	transcript	ENST00000369795.8	protein_coding					3807		chr1	TogoVar
STRIT1_chr3_155285227_155298683	155298092	GAAAGAAA others(14): Show GAAAGAAAAGAAACAAACACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA19005.hp1 NA19070.hp2 NA18954.hp2 NA19005.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	444	0.0068	-21	c.-44 others(32): Show c.-4481_-4461delTTGTGTTTGTTTCTTTTCTTT		STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding					4410		chr3	TogoVar
STRN3_chr14_30888804_31031379	30902171	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp1 NA18985.hp1 others(4): Show HG00609.hp1 NA18747.hp1 NA18985.hp1 NA19009.hp2 NA19056.hp2 NA19058.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0003g0343 a0001c0001t0003g0353 a0002c0002t0001g0125 others(4): Show a0001c0001t0003g0343 a0001c0001t0003g0353 a0002c0002t0001g0125 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0003g0176 a0002c0002t0004g0098	7	364	0.0192	-21	c.213 others(38): Show c.2137+344_2137+364delTTTTTTTTTTTTTTTTTTTTT		STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	16/17						chr14	TogoVar
STRN3_chr14_30888804_31031379	31013863	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0061 a0003c0003t0002g0061	1	364	0.0028	-21	c.282 others(40): Show c.282+12020_282+12040delTAATAATAATAATAATAATAA		STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17						chr14	TogoVar
STRN_chr2_36832698_36971536	36948081	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0040 a0001c0001t0126g0040	1	302	0.0033	-21	c.234 others(40): Show c.234+18128_234+18148delAAAAAAAAAAAAAAAAAAAAA		STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17						chr2	TogoVar
STS_chrX_7142712_7359641	7299006	ATTTATAT others(14): Show ATTTATATATATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0038 a0001c0001t0030g0038	1	231	0.0043	-21	c.944 others(38): Show c.944-6034_944-6014delATATATATAAATATATTTTAT		STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	7/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
STX1B_chr16_30984256_31015638	31013259	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	282	0.0036	-21	c.-28 others(32): Show c.-2884_-2864delGAAGAAGAAGAAGAAGAAGAA		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2622		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013302	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-21	c.-29 others(32): Show c.-2927_-2907delGGAAGAAGAAGAAGAAGAAGA		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2665		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013308	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02965.hp1 others(5): Show HG02258.hp2 HG02895.hp1 HG02965.hp1 HG03516.hp2 NA18952.hp2 NA19085.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016	a0001c0001t0002g0028 a0001c0001t0002g0100 a0001c0001t0006g0005 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0100 a0001c0001t0006g0005 a0001c0001t0006g0044 a0001c0001t0016g0021	8	282	0.0284	-21	c.-29 others(32): Show c.-2933_-2913delGGAAGAGGAAGAAGAAGAAGA		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2671		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013346	CCTCTTCT others(14): Show CCTCTTCTTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0061 a0001c0002t0018g0062 a0001c0002t0018g0061 a0001c0002t0018g0062	2	282	0.0071	-21	c.-29 others(32): Show c.-2971_-2951delAAGAAGAAGAAGAAAGAAGAG		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2709		chr16	TogoVar
STX6_chr1_180967725_181027870	181023047	TCTCCTCT others(14): Show TCTCCTCTCTCTCCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	350	0.0029	-21	c.-39 others(30): Show c.-395_-375delGAGAGAGAGGAGAGAGAGGAG		STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding					178		chr1	TogoVar
STX6_chr1_180967725_181027870	181023095	CCTCTCTC others(14): Show CCTCTCTCTCCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01433.hp1 HG02040.hp2 others(7): Show HG00621.hp2 HG01433.hp1 HG02040.hp2 HG02257.hp1 HG02602.hp2 NA18747.hp1 NA18959.hp1 NA18983.hp1 NA18989.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0088 a0001c0002t0002g0098 others(7): Show a0001c0002t0002g0016 a0001c0002t0002g0088 a0001c0002t0002g0098 a0001c0002t0002g0203 a0001c0002t0002g0214 a0001c0002t0002g0225 a0001c0002t0002g0236 a0001c0002t0002g0243 a0001c0002t0002g0276 a0001c0002t0002g0277	10	350	0.0286	-21	c.-44 others(30): Show c.-443_-423delAGAGAGAGAGAGGAGAGAGAG		STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding					226		chr1	TogoVar
STX7_chr6_132440867_132518116	132515003	GGGACTTA others(14): Show GGGACTTATTGGTAAGTGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02976.hp1 others(5): Show HG02451.hp1 HG02630.hp2 HG02976.hp1 HG03098.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 others(2): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0074 a0001c0001t0115	a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(5): Show a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0014g0044 a0001c0001t0015g0039 a0001c0001t0016g0045 a0001c0001t0074g0038 a0001c0001t0115g0040	8	380	0.0211	-21	c.-20 others(32): Show c.-2076_-2056delTTCTCACTTACCAATAAGTCC		STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding					1888		chr6	TogoVar
STX8_chr17_9245471_9580820	9277364	TAGTGAGG others(14): Show TAGTGAGGGCAGGGTCTCAATG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA20905.hp2 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0158 a0001c0003t0002g0030 a0001c0001t0001g0158 a0001c0003t0002g0030	2	188	0.0106	-21	c.644 others(40): Show c.644-26740_644-26720delCATTGAGACCCTGCCCTCACT		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7						chr17	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(14): Show CCTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(64): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00741.hp1 HG01071.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02602.hp2 HG02615.hp2 HG03491.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18960.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18993.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19090.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0006c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 a0001c0003t0002 a0001c0004t0007 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0017 a0002c0002t0033 a0002c0002t0035 a0002c0002t0037 a0006c0013t0013	a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0246 others(64): Show a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0290 a0001c0001t0006g0115 a0001c0001t0006g0166 a0001c0001t0013g0178 a0001c0001t0026g0176 a0001c0003t0002g0295 a0001c0004t0007g0016 a0001c0004t0007g0017 a0001c0004t0007g0341 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0056 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0128 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0213 a0002c0002t0002g0240 a0002c0002t0004g0061 a0002c0002t0004g0102 a0002c0002t0004g0109 a0002c0002t0004g0116 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0121 a0002c0002t0004g0129 a0002c0002t0008g0248 a0002c0002t0017g0089 a0002c0002t0017g0098 a0002c0002t0033g0349 a0002c0002t0035g0066 a0002c0002t0037g0135 a0006c0013t0013g0185	67	350	0.1914	-21	c.308 others(40): Show c.3082-1324_3082-1304delCTTTTTTTTTTTTTTTTTTTT		STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27						chr6	TogoVar
STYXL1_chr7_75991342_76053000	76005071	GACGAGTT others(14): Show GACGAGTTAATGGGTGCAGCAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG00735.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0045 a0001c0002t0002g0046	2	356	0.0056	-21	c.599 others(36): Show c.599+167_599+187delGTGCTGCACCCATTAACTCGT		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	6/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76024290	ACCCACTT others(14): Show ACCCACTTTTAGGGAAAAAGAC	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	356	0.0028	-21	c.166 others(38): Show c.166-2319_166-2299delGTCTTTTTCCCTAAAAGTGGG		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	3/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046318	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0105 a0001c0005t0002g0105	1	356	0.0028	-21	c.-5+ others(36): Show c.-5+1323_-5+1343delACACACACACACACACACACA		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
SUFU_chr10_102498972_102638535	102581180	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp1 HG02257.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0085 a0001c0001t0011g0067 a0001c0001t0011g0085	2	268	0.0075	-21	c.455 others(40): Show c.455-11391_455-11371delAAAAAAAAAAAAAAAAAAAAA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SUGCT_chr7_40130005_40865763	40333661	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	8	0.1250	-21	c.816 others(40): Show c.816+16808_816+16828delAAAAAAATATATATATATATA		SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGP2_chr19_18985893_19038517	19005871	ACACACAC others(14): Show ACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	302	0.0033	-21	c.245 others(40): Show c.2451-1246_2451-1226delGTGTGTGTGTGTGTGTGTGTG		SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding	6/10						chr19	TogoVar
SULF1_chr8_69487847_69665912	69642124	CATCTATA others(14): Show CATCTATATTAATATCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0244 a0001c0001t0005g0244	1	296	0.0034	-21	c.258 others(40): Show c.2585+1325_2585+1345delTATCTATATTAATATCTTCTT		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47745391	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	364	0.0028	-21	c.176 others(38): Show c.176-8470_176-8450delATTTTTTTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745393	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	364	0.0028	-21	c.176 others(38): Show c.176-8472_176-8452delATATTTTTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47785435	GCGCCGCC others(14): Show GCGCCGCCGCTGCCGCTGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp2 HG03471.hp2 HG03540.hp2 HG02818.hp2 HG03471.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0011 a0001c0002t0011 a0003c0005t0011 a0001c0001t0011 a0001c0002t0011 a0003c0005t0011	a0001c0001t0011g0003 a0001c0002t0011g0002 a0003c0005t0011g0004 a0001c0001t0011g0003 a0001c0002t0011g0002 a0003c0005t0011g0004	3	364	0.0082	-21	c.-21 others(30): Show c.-214_-194delGCGGCAGCGGCAGCGGCGGCG		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	1/21				28073		chr20	TogoVar
SULT1C2_chr2_108283895_108314915	108296422	TGGCTGGA others(14): Show TGGCTGGAGACTCAGCTGTGCA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG03516.hp2 HG02145.hp2 HG02622.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0161 a0001c0001t0005g0040 a0001c0001t0005g0161	3	342	0.0088	-21	c.277 others(38): Show c.277+2070_277+2090delGCTGGAGACTCAGCTGTGCAG		SULT1C2	ENSG00000198203.10	transcript	ENST00000251481.11	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT2B1_chr19_48547172_48604423	48602705	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG02572.hp2 others(1): Show HG01261.hp2 HG01346.hp2 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0001 a0001c0004t0001 a0001c0007t0001	a0001c0004t0001g0052 a0001c0004t0001g0198 a0001c0007t0001g0033 others(1): Show a0001c0004t0001g0052 a0001c0004t0001g0198 a0001c0007t0001g0033 a0001c0007t0001g0166	4	376	0.0106	-21	c.33 others(32): Show c.3300_*3320delTATATATATATATATATATAT		SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding					3283		chr19	TogoVar
SULT6B1_chr2_37162820_37193670	37193576	GAAGAAAA others(14): Show GAAGAAAAAGAAGAAGAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	354	0.0028	-21	c.-49 others(32): Show c.-4957_-4937delTTTCTTCTTCTTCTTTTTCTT		SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding					4907		chr2	TogoVar
SULT6B1_chr2_37162820_37193670	37193631	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0024 a0004c0004t0001g0024	1	354	0.0028	-21	c.-50 others(32): Show c.-5012_-4992delCCTTCTTCTTCTTCTTCTTCT		SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding					4962		chr2	TogoVar
SUMF1_chr3_4356146_4472269	4398358	TATGCATA others(14): Show TATGCATATTCCTATATTAAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0043 a0001c0001t0007g0364 a0001c0001t0005g0043 a0001c0001t0007g0364	2	392	0.0051	-21	c.954 others(40): Show c.954+12486_954+12506delTTTTAATATAGGAATATGCAT		SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	7/8						chr3	TogoVar
SUMO3_chr21_44800617_44823062	44813579	CGAGGACA others(14): Show CGAGGACAGGGTGACAGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00609.hp1 others(96): Show HG00323.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02074.hp1 HG02257.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0002c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0004g0070 a0001c0001t0007g0014 a0001c0001t0007g0076 a0001c0001t0015g0083 a0002c0002t0005g0020 a0002c0002t0005g0029 a0002c0002t0005g0069 a0002c0002t0005g0077	99	406	0.2438	-21	c.150 others(36): Show c.150+376_150+396delCGCCGCTGTCACCCTGTCCTC		SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	2/3						chr21	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364305	TGCTGCTC others(14): Show TGCTGCTCCTGCTCCTGCTCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00597.hp1 HG01952.hp1 others(21): Show HG00099.hp2 HG00597.hp1 HG01952.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp1 NA18999.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19072.hp1	a0004 a0035 a0004 a0035	a0004c0004 a0004c0030 a0035c0042 a0004c0004 a0004c0030 a0035c0042	a0004c0004t0003 a0004c0030t0003 a0035c0042t0003 a0004c0004t0003 a0004c0030t0003 a0035c0042t0003	a0004c0004t0003g0000 a0004c0030t0003g0000 a0035c0042t0003g0000 a0004c0004t0003g0000 a0004c0030t0003g0000 a0035c0042t0003g0000	24	316	0.0760	-21	c.155 others(30): Show c.1552_1572delCCTGCTCCTGCTCTAGCTGCT	p.Pro others(13): Show p.Pro518_Ala524del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3674/7201	1552/2664	518/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT20H_chr13_37004312_37064688	37008315	CCTGCACA others(14): Show CCTGCACAATTATTTCTAGTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0130 a0002c0002t0001g0122 a0002c0002t0001g0130	2	304	0.0066	-21	c.13 others(32): Show c.1336_*1356delTGACTAGAAATAATTGTGCAG		SUPT20H	ENSG00000102710.21	transcript	ENST00000350612.11	protein_coding					996		chr13	TogoVar
SUPT3H_chr6_44821726_45382934	44956482	AATAAAAA others(14): Show AATAAAAAAAAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01433.hp1 others(12): Show HG00099.hp2 HG00735.hp2 HG01433.hp1 HG01952.hp1 HG02109.hp2 HG02129.hp1 HG02602.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18949.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0002g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 others(12): Show a0001c0001t0002g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0147 a0001c0002t0002g0148	15	262	0.0573	-21	c.581 others(38): Show c.581-1896_581-1876delATTTTTATTTTTTTTTTTTAT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	7/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45128524	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	262	0.0038	-21	c.102 others(40): Show c.102-22539_102-22519delATATATATATATTTTTTTTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUSD1_chr9_112035783_112180297	112142961	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0179 a0001c0001t0003g0243 a0001c0001t0001g0179 a0001c0001t0003g0243	2	338	0.0059	-21	c.527 others(36): Show c.527-483_527-463delAAAAAAAAAAAAAAAAAAAAA		SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	4/16						chr9	TogoVar
SWAP70_chr11_9659077_9757993	9725553	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 HG01891.hp2 others(5): Show HG00280.hp2 HG01109.hp2 HG01891.hp2 HG02145.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0006 a0002c0001t0008 others(1): Show a0002c0001t0001 a0002c0001t0006 a0002c0001t0008 a0002c0001t0019	a0002c0001t0001g0252 a0002c0001t0001g0276 a0002c0001t0001g0289 others(5): Show a0002c0001t0001g0252 a0002c0001t0001g0276 a0002c0001t0001g0289 a0002c0001t0006g0103 a0002c0001t0008g0097 a0002c0001t0008g0098 a0002c0001t0008g0246 a0002c0001t0019g0279	8	294	0.0272	-21	c.642 others(36): Show c.642+670_642+690delATATATATATATATATTTTTT		SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar

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