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
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp1 HG01258.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0003g0022 a0001c0001t0001g0026 a0001c0001t0003g0022	2	56	0.0357	-26	c.67+ others(43): Show c.67+48159_67+48184delTTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239178	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0054 a0001c0001t0036g0054	1	274	0.0037	-26	c.68- others(43): Show c.68-45600_68-45575delTATATATATATATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9096937	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	228	0.0044	-26	c.423 others(43): Show c.423+7717_423+7742delTATATATATATATATATATATATATA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096956	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01175.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0005 a0001c0001t0015 a0001c0002t0010 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0002t0010 a0002c0010t0001	a0001c0001t0005g0206 a0001c0001t0015g0154 a0001c0002t0010g0001 others(3): Show a0001c0001t0005g0206 a0001c0001t0015g0154 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0002c0010t0001g0032	6	228	0.0263	-26	c.423 others(43): Show c.423+7698_423+7723delGTATATATATATATATATATATATAT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRP54_chr14_34977992_35034567	34995166	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00741.hp2 others(4): Show HG00099.hp1 HG00639.hp1 HG00741.hp2 HG01257.hp1 HG01433.hp2 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 others(4): Show a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272	7	396	0.0177	-26	c.-33 others(43): Show c.-33-1510_-33-1485delGTGTGTGTGTGTGTGTGTGTGTAGAG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRPK2_chr7_105111374_105393921	105170827	GAAAGAAA others(19): Show GAAAGAAAGGAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	282	0.0036	-26	c.230 others(43): Show c.230-1588_230-1563delTTCTTTCTTTCTTTCTTCCTTTCTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247515	AACACACA others(19): Show AACACACACACACATAAACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03225.hp2 HG02055.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0001g0113 a0001c0001t0005g0114 a0001c0001t0005g0115	3	282	0.0106	-26	c.72- others(43): Show c.72-43756_72-43731delGTGTGTGTGTTTATGTGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK3_chrX_153776041_153790730	153776516	GGGCAGGG others(19): Show GGGCAGGGCGGGGCTGGGGCGGGGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02109.hp1 others(24): Show HG01243.hp1 HG01261.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18947.hp2 NA18961.hp1 NA18975.hp2 NA19083.hp1 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0010c0015	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0010t0002 a0010c0015t0002	a0001c0001t0002g0003 a0001c0001t0002g0046 a0001c0002t0001g0004 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0046 a0001c0002t0001g0004 a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0010t0002g0003 a0010c0015t0002g0018	27	307	0.0880	-26	c.-45 others(37): Show c.-4570_-4545delGGCAGGGCGGGGCTGGGGCGGGGCGA	SRPK3	ENSG00000184343.11	transcript	ENST00000370101.8	protein_coding		4524		chrX	TogoVar
SRRM3_chr7_76196896_76292287	76261117	GGGGGACA others(19): Show GGGGGACATTGTTGTCCCCACAATTGT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	324	0.0031	-26	c.575 others(41): Show c.575+222_576-202delTTGTTGTCCCCACAATTGTGGGGACA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRSF6_chr20_43452896_43469243	43466904	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02056.hp1 NA18943.hp1 others(5): Show HG00609.hp1 HG02056.hp1 NA18943.hp1 NA18989.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0002t0002g0001	8	464	0.0172	-26	c.58 others(37): Show c.5842_*5867delGTGTGTGTGTGTGTGTGTGTGTGTGT	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding		2662		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81686867	AAAAAAGA others(19): Show AAAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp2 HG03540.hp1 others(2): Show HG01243.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0059 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0005g0045 a0001c0001t0007g0204 others(2): Show a0001c0001t0001g0053 a0001c0001t0005g0045 a0001c0001t0007g0204 a0001c0001t0059g0200 a0001c0002t0001g0021	5	206	0.0243	-26	c.63- others(43): Show c.63-36554_63-36529delCTTTTCTTTTCTTTTCTTTTCTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54240065	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03098.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0162 a0001c0001t0005g0085 a0001c0001t0003g0162 a0001c0001t0005g0085	2	280	0.0071	-26	c.856 others(41): Show c.856+814_856+839delGCGCACACACACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240071	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG03471.hp2 HG02615.hp1 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0004 a0001c0004t0020 a0001c0004t0002 a0001c0004t0004 a0001c0004t0020	a0001c0004t0002g0071 a0001c0004t0004g0142 a0001c0004t0020g0086 a0001c0004t0002g0071 a0001c0004t0004g0142 a0001c0004t0020g0086	3	280	0.0107	-26	c.856 others(41): Show c.856+808_856+833delGCGCGCGCGCACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54294149	AAAAAAAA others(19): Show AAAAAAAAAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(9): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01256.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG03669.hp2 HG03942.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0099 a0001c0001t0002g0112 a0001c0001t0002g0128 others(9): Show a0001c0001t0001g0099 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0191 a0001c0001t0004g0091 a0001c0001t0006g0227 a0001c0001t0009g0167 a0001c0001t0009g0199 a0001c0001t0022g0276 a0001c0001t0027g0245	12	280	0.0429	-26	c.277 others(45): Show c.277-12648_277-12623delCTTTCTTTCTTTCTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54405867	CCCGCCCG others(19): Show CCCGCCCGCCCGCCCACCTGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0159 a0001c0001t0009g0159	1	280	0.0036	-26	c.56+ others(37): Show c.56+60_56+85delTGGGAGGCAGGTGGGCGGGCGGGCGG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	1/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405271	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 NA19085.hp1 HG03130.hp2 HG03471.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0207 a0004c0006t0001g0067 a0004c0006t0001g0068 a0001c0001t0001g0207 a0004c0006t0001g0067 a0004c0006t0001g0068	3	388	0.0077	-26	c.-66 others(41): Show c.-66-792_-66-767delTATATATATATATATATATATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSPN_chr12_26190573_26239777	26201026	TATATATA others(19): Show TATATATATATATATATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 NA18906.hp1 HG02280.hp2 HG02896.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0058 a0001c0001t0026 a0001c0001t0058	a0001c0001t0026g0271 a0001c0001t0026g0272 a0001c0001t0058g0273 a0001c0001t0026g0271 a0001c0001t0026g0272 a0001c0001t0058g0273	3	384	0.0078	-26	c.279 others(43): Show c.279+5076_279+5101delATATATATATATATATATATTATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2			chr12	TogoVar
SSR1_chr6_7276143_7318199	7276178	AAAATGTT others(19): Show AAAATGTTTTCGCATCATTTAGGGAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	434	0.0023	-26	c.13 others(39): Show c.13660_*13685delGTTCCCTAAATGATGCGAAAACATTT	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding		4964		chr6	TogoVar
SSR1_chr6_7276143_7318199	7296645	GGAGGGAA others(19): Show GGAGGGAAGGAAAGGAGGAGGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(27): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG01109.hp1 HG01255.hp1 HG01361.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02615.hp1 HG02735.hp1 HG02896.hp1 HG03225.hp2 HG04199.hp2 NA18954.hp1 NA18960.hp2 NA18969.hp2 NA18972.hp2 NA19010.hp2 NA19067.hp1 NA19080.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0082 others(4): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086	a0001c0001t0007g0010 a0001c0001t0007g0026 a0001c0001t0007g0030 others(19): Show a0001c0001t0007g0010 a0001c0001t0007g0026 a0001c0001t0007g0030 a0001c0001t0007g0125 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0007g0152 a0001c0001t0007g0343 a0001c0001t0010g0017 a0001c0001t0010g0029 a0001c0001t0010g0044 a0001c0001t0010g0252 a0001c0001t0010g0253 a0001c0001t0082g0254 a0001c0001t0083g0144 a0001c0001t0084g0142 a0001c0001t0085g0151 a0001c0001t0086g0146	30	434	0.0691	-26	c.700 others(43): Show c.700-1186_700-1161delACTCACCCTCCTCCTTTCCTTCCCTC	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding	6/7			chr6	TogoVar
SSUH2_chr3_8614386_8649798	8617874	AAAAGCTG others(19): Show AAAAGCTGTCCCCCCAGCTTGTCAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	456	0.0022	-26	c.19 others(37): Show c.1968_*1993delGGTTGACAAGCTGGGGGGACAGCTTT	SSUH2	ENSG00000125046.16	transcript	ENST00000544814.7	protein_coding		1511		chr3	TogoVar
ST18_chr8_52105838_52414756	52357676	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	104	0.0096	-26	c.-46 others(47): Show c.-465+51626_-465+51651delATATATATATATATATATATATAT AT	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133576567	AAAAAACA others(19): Show AAAAAACAAAAAACAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02572.hp2 HG02615.hp2 others(8): Show HG00323.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0002c0013 a0004c0007	a0001c0001t0037 a0001c0002t0010 a0001c0002t0019 others(8): Show a0001c0001t0037 a0001c0002t0010 a0001c0002t0019 a0001c0003t0004 a0001c0003t0072 a0001c0004t0003 a0001c0004t0006 a0001c0004t0028 a0002c0005t0006 a0002c0013t0004 a0004c0007t0017	a0001c0001t0037g0067 a0001c0002t0010g0253 a0001c0002t0019g0062 others(8): Show a0001c0001t0037g0067 a0001c0002t0010g0253 a0001c0002t0019g0062 a0001c0003t0004g0014 a0001c0003t0072g0068 a0001c0004t0003g0161 a0001c0004t0006g0066 a0001c0004t0028g0332 a0002c0005t0006g0195 a0002c0013t0004g0142 a0004c0007t0017g0008	11	332	0.0331	-26	c.-54 others(37): Show c.-5482_-5457delGTTTTTTTTTTTTGTTTTTTGTTTTT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding		4681		chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70389202	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0237 a0001c0001t0048g0237	1	312	0.0032	-26	c.534 others(41): Show c.534-682_534-657delTTTTTTTTTTTTTTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	3/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43765790	CGCGCGCG others(19): Show CGCGCGCGCGCGTCCGCGCGTCCGCGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02615.hp2 others(4): Show HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(4): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273	7	274	0.0256	-26	c.119 others(45): Show c.119-26307_119-26282delGCGCGCGTCCGCGCGTCCGCGTGCGC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GAL1_chr3_186925526_187083553	186926202	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01099.hp1 others(14): Show HG00733.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02451.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03669.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0059 a0001c0002t0027 a0001c0003t0019 a0001c0003t0074	a0001c0001t0002g0052 a0001c0001t0002g0071 a0001c0001t0002g0321 others(14): Show a0001c0001t0002g0052 a0001c0001t0002g0071 a0001c0001t0002g0321 a0001c0001t0003g0078 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0069 a0001c0001t0004g0325 a0001c0001t0009g0051 a0001c0001t0009g0066 a0001c0001t0021g0208 a0001c0001t0059g0076 a0001c0002t0027g0041 a0001c0003t0019g0077 a0001c0003t0074g0068	17	362	0.0470	-26	c.-49 others(37): Show c.-4956_-4931delATATATATATATATATATATATATAT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding		4323		chr3	TogoVar
ST6GALNAC1_chr17_76619763_76648757	76639638	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	412	0.0024	-26	c.131 others(43): Show c.131+3844_131+3869delGTGTGTGTGTGTGTGTGTGTGTGTGT	ST6GALNAC1	ENSG00000070526.15	transcript	ENST00000156626.12	protein_coding	1/8			chr17	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76590033	GTTTTTTT others(19): Show GTTTTTTTTTCTTTCTTACTGTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	426	0.0024	-26	c.-42 others(37): Show c.-4251_-4226delAAAAAACAGTAAGAAAGAAAAAAAAA	ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding		4174		chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76872094	CACACACA others(19): Show CACACACACACACACACACACACACCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp1 others(12): Show HG00639.hp2 HG01167.hp1 HG01169.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02895.hp2 HG03098.hp2 HG03130.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0019 a0002c0002t0029 a0002c0004t0007	a0002c0002t0001g0199 a0002c0002t0007g0182 a0002c0002t0008g0176 others(12): Show a0002c0002t0001g0199 a0002c0002t0007g0182 a0002c0002t0008g0176 a0002c0002t0008g0177 a0002c0002t0008g0178 a0002c0002t0008g0180 a0002c0002t0010g0198 a0002c0002t0015g0175 a0002c0002t0015g0179 a0002c0002t0015g0193 a0002c0002t0019g0197 a0002c0002t0029g0181 a0002c0004t0007g0183 a0002c0004t0007g0194 a0002c0004t0007g0195	15	202	0.0743	-26	c.261 others(43): Show c.261+3353_261+3378delACACACACACACACACACACACACCA	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4			chr1	TogoVar
ST8SIA1_chr12_22188391_22339707	22320931	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	282	0.0036	-26	c.236 others(45): Show c.236+13040_236+13065delCTTTCTTTCTTTCTTTCTTTCTTTCT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4			chr12	TogoVar
STAB2_chr12_103582273_103771719	103685447	TGTGTGTG others(19): Show TGTGTGTGCGCGTGCGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01346.hp1 HG01928.hp2 others(13): Show HG00741.hp1 HG01346.hp1 HG01928.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG03831.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18965.hp1 NA18967.hp1 NA19085.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0009 a0023 a0030	a0001c0093 a0001c0112 a0002c0011 others(8): Show a0001c0093 a0001c0112 a0002c0011 a0002c0092 a0006c0019 a0006c0108 a0007c0010 a0007c0110 a0009c0071 a0023c0072 a0030c0109	a0001c0093t0001 a0001c0112t0001 a0002c0011t0001 others(8): Show a0001c0093t0001 a0001c0112t0001 a0002c0011t0001 a0002c0092t0001 a0006c0019t0001 a0006c0108t0001 a0007c0010t0001 a0007c0110t0001 a0009c0071t0001 a0023c0072t0001 a0030c0109t0001	a0001c0093t0001g0227 a0001c0112t0001g0202 a0002c0011t0001g0207 others(13): Show a0001c0093t0001g0227 a0001c0112t0001g0202 a0002c0011t0001g0207 a0002c0092t0001g0199 a0006c0019t0001g0018 a0006c0019t0001g0062 a0006c0019t0001g0089 a0006c0108t0001g0096 a0007c0010t0001g0071 a0007c0010t0001g0090 a0007c0010t0001g0223 a0007c0010t0001g0224 a0007c0110t0001g0152 a0009c0071t0001g0045 a0023c0072t0001g0041 a0030c0109t0001g0229	16	256	0.0625	-26	c.299 others(43): Show c.2997+367_2997+392delTGTGCGCGTGCGTGTGTGTGTGCGTG	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	27/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103748584	CCACACAC others(19): Show CCACACACACACACACACACATACACA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0009 a0009	a0009c0069 a0009c0069	a0009c0069t0001 a0009c0069t0001	a0009c0069t0001g0184 a0009c0069t0001g0184	1	256	0.0039	-26	c.624 others(43): Show c.6245-358_6245-333delTACACACACACACACACACACACACA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	58/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAC_chr3_36375504_36553007	36442739	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00735.hp1 others(61): Show HG00280.hp1 HG00280.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp2 NA18967.hp1 NA18972.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp2 NA19085.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0002t0003 a0001c0002t0005 a0001c0008t0017 a0001c0009t0001 a0003c0004t0001	a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 others(61): Show a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0002g0124 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0002g0230 a0001c0001t0002g0254 a0001c0001t0004g0185 a0001c0001t0004g0199 a0001c0001t0004g0304 a0001c0001t0004g0314 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0013g0201 a0001c0001t0015g0081 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0005g0037 a0001c0002t0005g0044 a0001c0008t0017g0231 a0001c0009t0001g0122 a0003c0004t0001g0100	64	316	0.2025	-26	c.112 others(41): Show c.112-587_112-562delCACACACACACACACACACACACACA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136702097	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp1 HG01496.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0134 a0001c0002t0007g0135 a0001c0002t0007g0134 a0001c0002t0007g0135	2	240	0.0083	-26	c.-84 others(45): Show c.-84+50072_-84+50097delGTCTCTCTCTCTCTCTCTCTCTCTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136702105	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGACAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03486.hp1 NA18522.hp1 others(1): Show HG01243.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0131 a0001c0002t0005g0183 a0001c0002t0005g0184 others(1): Show a0001c0002t0005g0131 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0186	4	240	0.0167	-26	c.-84 others(45): Show c.-84+50064_-84+50089delGTCTCTCTGTCTCTCTCTCTCTCTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAMBP_chr2_73823961_73872168	73834218	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0006g0039 a0001c0002t0006g0040	2	368	0.0054	-26	c.203 others(43): Show c.203+3161_203+3186delAAAAAAAAAAAAAAAAAATATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834220	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0057 a0001c0003t0010g0057	1	368	0.0027	-26	c.203 others(43): Show c.203+3163_203+3188delAAAAAAAAAAAAAAAATATATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834236	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	368	0.0027	-26	c.203 others(43): Show c.203+3203_203+3228delTATATATATATATATATATATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD13_chr13_33098137_33290755	33163645	TATATATA others(19): Show TATATATATAAAACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 NA19030.hp2 HG02976.hp1 HG02976.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0156 a0001c0004t0002g0011 a0001c0004t0002g0246 a0001c0001t0001g0156 a0001c0004t0002g0011 a0001c0004t0002g0246	3	302	0.0099	-26	c.323 others(43): Show c.323+1666_323+1691delGTTATATATATATGTTTTATATATAT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13			chr13	TogoVar
STARD7_chr2_96179859_96213827	96209189	GGGGCTCC others(19): Show GGGGCTCCGCATGTCTCTGCGGGGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	358	0.0028	-26	c.-78 others(35): Show c.-781_-756delAGCCCCCGCAGAGACATGCGGAGCCC	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding		363		chr2	TogoVar
STARD9_chr15_42570606_42725998	42597974	GTGTGTGT others(19): Show GTGTGTGTGTGTGTTTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0023 a0009c0011t0002g0023	1	210	0.0048	-26	c.234 others(45): Show c.234+12351_234+12376delTTGTATATATATATGTGTGTGTGTGT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT5B_chr17_42194177_42281391	42262964	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19066.hp2 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0221 a0001c0001t0001g0167 a0001c0001t0003g0221	2	260	0.0077	-26	c.-11 others(45): Show c.-11+13258_-11+13283delTATATATATATATATATATACACACA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262966	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03927.hp1 HG03710.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0212 a0001c0001t0016g0225 a0001c0001t0016g0212 a0001c0001t0016g0225	2	260	0.0077	-26	c.-11 others(45): Show c.-11+13256_-11+13281delTATATATATATATATATATATACACA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262968	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	260	0.0039	-26	c.-11 others(45): Show c.-11+13254_-11+13279delTATATATATATATATATATATATACA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT5B_chr17_42194177_42281391	42262991	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0258 a0001c0009t0008g0258	1	260	0.0039	-26	c.-11 others(45): Show c.-11+13231_-11+13256delTTATATATATATATATATATATATAT	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAT6_chr12_57090408_57116362	57102965	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01517.hp1 others(19): Show HG00140.hp1 HG01074.hp1 HG01517.hp1 HG01943.hp1 HG02148.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02818.hp2 HG03209.hp1 HG03579.hp1 HG03704.hp2 NA18522.hp1 NA18982.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0035 a0001c0003t0002	a0001c0001t0001g0244 a0001c0001t0002g0082 a0001c0001t0002g0084 others(18): Show a0001c0001t0001g0244 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0003g0032 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0267 a0001c0001t0007g0101 a0001c0001t0008g0299 a0001c0001t0011g0098 a0001c0001t0012g0124 a0001c0001t0020g0308 a0001c0001t0035g0314 a0001c0003t0002g0083	22	368	0.0598	-26	c.121 others(41): Show c.1213-70_1213-45delAAAAAAAAAAAAAAAAAAAAAAAAAA	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	11/21			chr12	TogoVar
STAU1_chr20_49108339_49193334	49108518	ACACACAC others(19): Show ACACACACACACACACACCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01884.hp2 HG02602.hp1 others(6): Show HG01258.hp1 HG01884.hp2 HG02602.hp1 HG02630.hp2 HG02818.hp2 HG03041.hp1 HG03710.hp2 NA18971.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0257 others(6): Show a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0006g0246 a0001c0001t0006g0250 a0001c0001t0006g0335	9	366	0.0246	-26	c.63 others(37): Show c.6334_*6359delGGGGGGGGGGTGTGTGTGTGTGTGTG	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4820		chr20	TogoVar
STAU1_chr20_49108339_49193334	49108520	ACACACAC others(19): Show ACACACACACACACACCCCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG03471.hp1 HG00642.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0325 a0001c0001t0002g0308 a0001c0001t0002g0325	2	366	0.0055	-26	c.63 others(37): Show c.6332_*6357delGGGGGGGGGGGGTGTGTGTGTGTGTG	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4818		chr20	TogoVar
STAU2_chr8_73415369_73751840	73605852	CACACACA others(19): Show CACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02647.hp1 others(3): Show HG01109.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0033 a0001c0003t0001g0028 a0001c0003t0001g0029 others(3): Show a0001c0001t0001g0033 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032	6	240	0.0250	-26	c.892 others(43): Show c.892-2015_892-1990delATGTGTGTGTGTGTGTGTGTGTGTGT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	9/14			chr8	TogoVar
STIL_chr1_47245139_47319147	47252778	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0285 a0002c0001t0002g0285	1	392	0.0026	-26	c.308 others(43): Show c.3081-882_3081-857delGTGTGTGTGTGTGTGTGTGTGTGTGT	STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding	16/16			chr1	TogoVar
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18944.hp2 HG02015.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0113 a0001c0001t0011g0229 a0001c0001t0003g0113 a0001c0001t0011g0229	2	336	0.0060	-26	c.151 others(45): Show c.151+24480_151+24505delATATATATATATATATATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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