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
SSPN_chr12_26190573_26239777	26201024	T T	TATAAAAT others(30): Show TATAAAATATATATATATATAAATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0047 a0004c0006t0047	a0004c0006t0047g0105 a0004c0006t0047g0105	1	384	0.0026	37	c.279 others(54): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSTR5_chr16_1067747_1086454	1076148	T T	TCTCCCCC others(30): Show TCTCCCCCCACCTTTTCTCTCTCCCTCCCCACCTCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02145.hp2 others(9): Show HG01109.hp2 HG01891.hp2 HG02145.hp2 HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03225.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0006 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0005t0006 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0114 a0001c0005t0006g0006 a0001c0005t0006g0115 others(2): Show a0001c0001t0001g0114 a0001c0005t0006g0006 a0001c0005t0006g0115 a0002c0002t0002g0006 a0002c0002t0009g0106	12	350	0.0343	37	c.-27 others(54): Show c.-27-2689_-27-2688insCCCACCTTTTCTCTCTCCCTCCCCACCT CCCCCTCCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	37	c.20 others(48): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	344	0.0029	37	c.58 others(48): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL3_chr1_43702536_43936159	43906164	T T	TTCCCCTT others(30): Show TTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	274	0.0037	37	c.744 others(54): Show c.744+6473_744+6474insGTCCCCTTCCTGCCACTCTTCCTCCCCC TCCTCCTGT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906186	T T	TCCCCCTC others(30): Show TCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTTCCTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19062.hp1 NA18949.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0051 a0001c0001t0002g0021 a0001c0001t0002g0051	2	274	0.0073	37	c.744 others(54): Show c.744+6464_744+6500dupCTCCTCCTGTTCCCCTTCCTGCCACTCT TCCTCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76368464	T T	TGATGCCC others(30): Show TGATGCCCCAAATCTGATGGTATGCCACTTCCTCTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG06807.hp2 HG03139.hp2 HG03225.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0001 a0002c0002t0014 a0001c0001t0019 a0002c0002t0001 a0002c0002t0014	a0001c0001t0019g0082 a0002c0002t0001g0045 a0002c0002t0014g0084 a0001c0001t0019g0082 a0002c0002t0001g0045 a0002c0002t0014g0084	3	102	0.0294	37	c.214 others(56): Show c.214-43541_214-43505dupTGCCCCAAATCTGATGGTATGCCACT TCCTCTCCAGA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0202 a0001c0001t0016g0202	1	202	0.0050	37	c.75 others(48): Show c.7568_*7569insTATATATATATATATATATATATATATATATATT TTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
STAB2_chr12_103582273_103771719	103766979	G G	GGTGGGAA others(30): Show GGTGGGAATCCAAAATAGTACAGCCACTGTAGAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0047 a0047	a0047c0143 a0047c0143	a0047c0143t0001 a0047c0143t0001	a0047c0143t0001g0216 a0047c0143t0001g0216	1	256	0.0039	37	c.64 others(46): Show c.643_*644insGTGGGAATCCAAAATAGTACAGCCACTGTAGAAAAC A	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		261		chr12	TogoVar
STAG3_chr7_100172918_100219381	100196160	T T	TAGATGTT others(30): Show TAGATGTTTCTCACTCTTACCTAGGTTTCACTTCTGCC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	322	0.0031	37	c.941 others(52): Show c.941+779_941+815dupAGATGTTTCTCACTCTTACCTAGGTTTCAC TTCTGCC	STAG3	ENSG00000066923.19	transcript	ENST00000615138.5	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr7	TogoVar
STARD13_chr13_33098137_33290755	33240671	T T	TATCCTTA others(30): Show TATCCTTAAGTTTATCCTTAAGTATTTTATCCTTAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01071.hp1 others(46): Show HG00323.hp1 HG00642.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03491.hp2 HG03654.hp1 HG03710.hp2 NA18944.hp2 NA18967.hp1 NA18977.hp2 NA18994.hp1 NA19007.hp2 NA19054.hp2 NA19062.hp2 NA19066.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0018 a0001c0027 a0002c0003 a0003c0006 a0007c0021 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0004t0002 a0001c0004t0008 a0001c0005t0005 a0001c0008t0002 a0001c0008t0027 a0001c0011t0001 a0001c0013t0001 a0001c0015t0004 a0001c0018t0009 a0001c0027t0004 a0002c0003t0001 a0002c0003t0003 a0003c0006t0001 a0007c0021t0003 a0009c0024t0002	a0001c0001t0001g0123 a0001c0001t0001g0152 a0001c0001t0001g0284 others(46): Show a0001c0001t0001g0123 a0001c0001t0001g0152 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0288 a0001c0001t0004g0059 a0001c0001t0010g0062 a0001c0001t0011g0298 a0001c0001t0019g0275 a0001c0002t0001g0040 a0001c0002t0001g0175 a0001c0002t0002g0008 a0001c0002t0002g0216 a0001c0002t0002g0254 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0003g0039 a0001c0002t0003g0281 a0001c0002t0012g0004 a0001c0004t0002g0052 a0001c0004t0002g0246 a0001c0004t0002g0279 a0001c0004t0002g0280 a0001c0004t0008g0294 a0001c0005t0005g0295 a0001c0008t0002g0159 a0001c0008t0027g0299 a0001c0011t0001g0242 a0001c0013t0001g0180 a0001c0013t0001g0256 a0001c0015t0004g0064 a0001c0018t0009g0179 a0001c0027t0004g0276 a0002c0003t0001g0169 a0002c0003t0001g0271 a0002c0003t0001g0292 a0002c0003t0003g0127 a0002c0003t0003g0193 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0286 a0002c0003t0003g0287 a0002c0003t0003g0290 a0003c0006t0001g0197 a0003c0006t0001g0199 a0007c0021t0003g0255 a0009c0024t0002g0274	49	302	0.1623	37	c.169 others(56): Show c.169+44762_169+44798dupCCTTAAGGATAAAATACTTAAGGATA AACTTAAGGAT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	268	0.0037	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02559.hp2 HG01167.hp1 HG02257.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0055 a0002c0002t0001g0035 a0001c0001t0001g0027 a0001c0001t0001g0055 a0002c0002t0001g0035	3	268	0.0112	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	268	0.0037	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	268	0.0037	37	c.210 others(54): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0100 a0001c0007t0001g0100	1	268	0.0037	37	c.782 others(52): Show c.782+451_782+452insATATATATATATATATATATATATATATAT ATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	268	0.0037	37	c.782 others(52): Show c.782+449_782+450insATATATATATATATATATATATATATATAT TTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	268	0.0037	37	c.782 others(52): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	268	0.0037	37	c.782 others(52): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAACAAAAAAAAAACAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0280 a0001c0001t0002g0272 a0001c0001t0002g0280	2	366	0.0055	37	c.610 others(54): Show c.610-2002_610-2001insTTGTTTTTTTTTTGTTTTTTTTTTGTTT TTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	384	0.0026	37	c.762 others(56): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	384	0.0026	37	c.762 others(56): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18990.hp2 NA19091.hp1 HG01099.hp1 NA18990.hp2 NA19091.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0208 a0004c0004t0001g0168 a0004c0004t0001g0169 a0003c0003t0001g0208 a0004c0004t0001g0168 a0004c0004t0001g0169	3	384	0.0078	37	c.762 others(56): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18968.hp1 NA19070.hp2 NA18945.hp1 NA18968.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0186 a0001c0001t0001g0191 a0003c0003t0001g0130 a0001c0001t0001g0186 a0001c0001t0001g0191 a0003c0003t0001g0130	3	404	0.0074	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18964.hp1 NA19062.hp2 HG01099.hp2 NA18964.hp1 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0137 a0003c0003t0001g0145 a0003c0003t0001g0157 a0003c0003t0001g0137 a0003c0003t0001g0145 a0003c0003t0001g0157	3	404	0.0074	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18953.hp2 NA19007.hp2 HG00099.hp2 NA18953.hp2 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0203 a0003c0003t0001g0115 a0003c0003t0001g0116 a0001c0001t0001g0203 a0003c0003t0001g0115 a0003c0003t0001g0116	3	404	0.0074	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	404	0.0025	37	c.483 others(54): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(30): Show TTATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	334	0.0030	37	c.947 others(52): Show c.947+808_947+809insTTATATATATATATATATATATATATATAT ATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STK4_chr20_44961512_45085021	45011730	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0149 a0002c0002t0007g0149	1	328	0.0031	37	c.114 others(58): Show c.1147+10377_1147+10378insATATATATATATATATATATATAT ATATATATATATA	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10			chr20	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	236	0.0042	37	c.-16 others(58): Show c.-164-16437_-164-16436insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STX17_chr9_99901654_99979534	99971573	T T	TACTATTT others(30): Show TACTATTTTATTAATAAATTAATATAAAGAACAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0180 a0001c0001t0032g0180	1	294	0.0034	37	c.29 others(48): Show c.2900_*2901insACTATTTTATTAATAAATTAATATAAAGAACAAA AAC	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding	8/8	2901		chr9	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0048 a0003c0003t0011g0048	1	380	0.0026	37	c.205 others(54): Show c.205+3503_205+3504insATATATATATATATATATATTTTTTTTT TTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0050 a0003c0003t0003g0050	1	380	0.0026	37	c.205 others(54): Show c.205+3503_205+3504insATATATATATATATATATATATTTTTTT TTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023049	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	350	0.0029	37	c.-37 others(46): Show c.-377_-376insTATATATATATATATATATATATATATATATATATA T	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		180		chr1	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0042 a0001c0003t0002g0043 a0001c0003t0001g0042 a0001c0003t0002g0043	2	188	0.0106	37	c.118 others(54): Show c.118-2233_118-2232insAAAAAAAAAAAAAAATATATATATATAT ATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(30): Show GCCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG02071.hp2 others(6): Show HG00673.hp2 HG01167.hp2 HG02071.hp2 HG02129.hp1 HG03239.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA19091.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0023 a0002c0005 others(1): Show a0001c0001 a0001c0023 a0002c0005 a0004c0007	a0001c0001t0001 a0001c0023t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0023t0001 a0002c0005t0001 a0004c0007t0001	a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0001g0128 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0167 a0001c0023t0001g0022 a0002c0005t0001g0018 a0004c0007t0001g0158	9	418	0.0215	37	c.198 others(54): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCATGGGCCT TCGCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(30): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01981.hp1 others(21): Show HG00544.hp2 HG00621.hp1 HG01981.hp1 HG02056.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp1 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA18972.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19062.hp1 NA19079.hp1 NA19086.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0021 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0295 a0001c0001t0021g0136 a0001c0004t0002g0008 others(19): Show a0001c0001t0001g0295 a0001c0001t0021g0136 a0001c0004t0002g0008 a0001c0004t0002g0241 a0001c0004t0002g0244 a0001c0004t0002g0247 a0001c0004t0002g0249 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0253 a0001c0004t0002g0254 a0001c0004t0002g0258 a0001c0004t0002g0261 a0001c0004t0002g0263 a0001c0004t0002g0265 a0001c0004t0002g0268 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0278 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0001g0303	24	418	0.0574	37	c.198 others(54): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02145.hp1 HG02647.hp1 others(4): Show HG01517.hp1 HG02145.hp1 HG02647.hp1 NA18990.hp1 NA19054.hp1 NA19064.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0121 a0001c0001t0001g0211 a0001c0001t0001g0212 a0002c0002t0001g0057	7	382	0.0183	37	c.212 others(52): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	422	0.0024	37	c.-14 others(48): Show c.-1456_-1455insTATATATATATATATATATTTTTTTTTTTTTTTT TTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	422	0.0024	37	c.-14 others(48): Show c.-1456_-1455insTATATATATATATATATTTTTTTTTTTTTTTTTT TTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	422	0.0024	37	c.-14 others(48): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45379329	T T	TTGATCTC others(30): Show TTGATCTCTTTTTTGATTTTCTTTTTTTAGCTCTTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	262	0.0038	37	c.-15 others(48): Show c.-1563_-1562insTTCAAGAGCTAAAAAAAGAAAATCAAAAAAGAGA TCA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding		1396		chr6	TogoVar
SUPT5H_chr19_39440582_39481670	39449076	C C	CGAGACTC others(30): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	378	0.0027	37	c.75+ others(52): Show c.75+3117_75+3118insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AGAGACT	SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUPT6H_chr17_28657205_28707679	28659256	T T	TGGGCAGA others(30): Show TGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	236	0.0042	37	c.-31 others(48): Show c.-3118_-3117insGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCA GCC	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding		2948		chr17	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG00735.hp1 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	2	236	0.0085	37	c.-32 others(54): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SURF2_chr9_133351550_133366158	133365074	G G	GCCTGTCT others(30): Show GCCTGTCTGTGAGACCAGGTGCAGGGAGACCTTGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0001 a0006c0009t0001g0001	1	448	0.0022	37	c.39 others(48): Show c.3935_*3936insCCTGTCTGTGAGACCAGGTGCAGGGAGACCTTGC TGC	SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding		3917		chr9	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0105 a0105	a0105c0129 a0105c0129	a0105c0129t0001 a0105c0129t0001	a0105c0129t0001g0212 a0105c0129t0001g0212	1	362	0.0028	37	c.488 others(54): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9725569	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0092 a0001c0002t0011g0092	1	294	0.0034	37	c.642 others(52): Show c.642+685_642+686insATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp2 HG02280.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0072 a0001c0001t0001g0075	2	426	0.0047	37	c.236 others(52): Show c.236-828_236-827insAAAAAAAAATATATATATATATATATATAT ATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	426	0.0024	37	c.236 others(52): Show c.236-828_236-827insAAAAAAAAAAATATATATATATATATATAT ATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar

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