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
STARD7_chr2_96179859_96213827	96197077	A A	AAACTAAA others(31): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18953.hp2 NA18969.hp2 others(1): Show NA18944.hp1 NA18953.hp2 NA18969.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0170 a0001c0001t0003g0192 a0001c0001t0003g0033 a0001c0001t0003g0170 a0001c0001t0003g0192	4	358	0.0112	38	c.291 others(55): Show c.291-1529_291-1528insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	268	0.0037	38	c.210 others(55): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	268	0.0037	38	c.210 others(55): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	268	0.0037	38	c.782 others(53): Show c.782+449_782+450insATATATATATATATATATATATATATATTT TTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	268	0.0037	38	c.782 others(53): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0168 a0001c0001t0013g0168	1	268	0.0037	38	c.782 others(53): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAU1_chr20_49108339_49193334	49108477	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	366	0.0027	38	c.64 others(49): Show c.6400_*6401insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4861		chr20	TogoVar
STAU1_chr20_49108339_49193334	49108479	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	366	0.0027	38	c.63 others(49): Show c.6398_*6399insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4859		chr20	TogoVar
STC2_chr5_173309723_173333414	173318266	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	448	0.0022	38	c.507 others(51): Show c.507-18_507-17insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	STC2	ENSG00000113739.11	transcript	ENST00000265087.9	protein_coding	3/3			chr5	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0277	1	384	0.0026	38	c.762 others(57): Show c.762+35592_762+35593insAAAAAAAAAAAAAATATATATATATA TATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02615.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0251 a0002c0002t0002g0317 a0002c0002t0002g0251 a0002c0002t0002g0317	2	384	0.0052	38	c.762 others(57): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp2 HG01884.hp1 others(24): Show HG01070.hp2 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG02293.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG03225.hp2 HG04115.hp2 NA18946.hp1 NA18952.hp1 NA18987.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19012.hp1 NA19012.hp2 NA19064.hp2 NA19078.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0003 a0006c0006t0001	a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0001t0002g0038 others(24): Show a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0141 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0254 a0002c0002t0001g0294 a0002c0002t0001g0330 a0002c0002t0002g0219 a0002c0002t0002g0231 a0002c0002t0002g0235 a0002c0002t0002g0251 a0002c0002t0002g0265 a0002c0002t0002g0277 a0002c0002t0002g0281 a0003c0003t0001g0201 a0003c0003t0001g0366 a0003c0003t0001g0367 a0003c0003t0002g0380 a0004c0004t0001g0171 a0004c0004t0001g0173 a0004c0004t0003g0007 a0004c0004t0003g0008 a0006c0006t0001g0326 a0006c0006t0001g0328	27	384	0.0703	38	c.762 others(57): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(31): Show ATATATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18950.hp2 HG02523.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0037 a0001c0001t0008g0063 a0001c0001t0002g0037 a0001c0001t0008g0063	2	336	0.0060	38	c.151 others(57): Show c.151+24511_151+24512insATATATATATATATATGTATATATAT ATATATGTATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(31): Show ATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	336	0.0030	38	c.151 others(57): Show c.151+24501_151+24502insGTATATATATATATATATATATATAT GTATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(31): Show ATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03490.hp1 HG03490.hp2 HG02040.hp1 HG03490.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0001g0143 a0001c0001t0002g0065 a0001c0001t0001g0081 a0001c0001t0001g0143 a0001c0001t0002g0065	3	336	0.0089	38	c.151 others(57): Show c.151+24499_151+24500insGTATATATATATATATATATATATAT ATGTATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(31): Show ATATATATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	336	0.0030	38	c.151 others(57): Show c.151+24497_151+24498insGTATATATATATATATATATATATAT ATATGTATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATGTATAT others(31): Show ATGTATATATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	336	0.0030	38	c.151 others(57): Show c.151+24491_151+24492insGTATATATATATATATGTATATATAT ATATATATATGT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0254 a0008c0010t0001g0254	1	404	0.0025	38	c.483 others(55): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTT	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(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18966.hp2 NA18947.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0114 a0003c0003t0001g0126 a0003c0003t0001g0114 a0003c0003t0001g0126	2	404	0.0050	38	c.483 others(55): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTT	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(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0032 a0003c0003t0001g0032	1	404	0.0025	38	c.483 others(55): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23810881	A A	ATAATATA others(31): Show ATAATATATATTTATATATAAATATACATAAAATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0281 a0002c0002t0002g0281	1	404	0.0025	38	c.276 others(57): Show c.2761-4260_2761-4223dupATATATATTTATATATAAATATACAT AAAATATATGTA	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5159656	T T	TATATATG others(31): Show TATATATGAATATATGAATGTATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	170	0.0059	38	c.109 others(55): Show c.109-8633_109-8632insATATGAATGTATATGAATATATATATGA ATATATGAAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5254965	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	170	0.0059	38	c.261 others(57): Show c.261-76243_261-76242insATATATATATATATATATATATATAT ATATATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5370996	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01243.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01243.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0007 a0001c0003t0001 a0001c0001t0005 a0001c0001t0007 a0001c0003t0001	a0001c0001t0005g0165 a0001c0001t0007g0114 a0001c0003t0001g0127 others(1): Show a0001c0001t0005g0165 a0001c0001t0007g0114 a0001c0003t0001g0127 a0001c0003t0001g0129	4	170	0.0235	38	c.435 others(57): Show c.435-27210_435-27209insGTGTGTATATATATATATATATATAT ATATATGTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5370996	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	170	0.0059	38	c.435 others(57): Show c.435-27210_435-27209insGTGTGTGTGTGTGTGTATATATATAT ATATATGTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG02132.hp2 others(9): Show HG00735.hp1 HG01081.hp1 HG02132.hp2 HG03098.hp2 HG03486.hp2 HG03579.hp2 NA18960.hp2 NA18961.hp2 NA18973.hp1 NA18978.hp1 NA19056.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0002c0004t0022	a0001c0002t0001g0181 a0001c0002t0001g0196 a0001c0002t0001g0198 others(9): Show a0001c0002t0001g0181 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0323 a0001c0002t0005g0234 a0001c0002t0005g0248 a0001c0002t0007g0232 a0001c0002t0007g0238 a0002c0004t0022g0151	12	334	0.0359	38	c.947 others(53): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STN1_chr10_103872569_103923184	103875859	G G	GTCTCTCT others(31): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01981.hp1 NA18944.hp1 others(1): Show HG00558.hp1 HG01981.hp1 NA18944.hp1 NA18991.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0001c0001t0016 a0003c0004t0005 a0001c0001t0005 a0001c0001t0016 a0003c0004t0005	a0001c0001t0005g0317 a0001c0001t0005g0327 a0001c0001t0016g0333 others(1): Show a0001c0001t0005g0317 a0001c0001t0005g0327 a0001c0001t0016g0333 a0003c0004t0005g0034	4	382	0.0105	38	c.68 others(49): Show c.6824_*6825insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding		1709		chr10	TogoVar
STN1_chr10_103872569_103923184	103909520	A A	ATATATGT others(31): Show ATATATGTATATATATGTGTGTATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0010 a0001c0001t0023g0010	2	382	0.0052	38	c.229 others(55): Show c.229+1006_229+1007insCATATATACATATATATACACACATATA TATACATATA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding	3/9			chr10	TogoVar
STOML3_chr13_38960925_38995831	38987856	A A	ATATGTTA others(31): Show ATATGTTATATATAATATATTATATTTTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03831.hp2 NA18987.hp1 others(3): Show HG01346.hp1 HG03831.hp2 NA18987.hp1 NA18988.hp2 NA19072.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0234 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0173	6	396	0.0152	38	c.52+ others(53): Show c.52+2776_52+2813dupATATATTATATAAAATATAATATATTATAT ATAACATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOM_chr9_121333987_121375250	121357424	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG02698.hp1 others(1): Show HG00741.hp2 HG01123.hp1 HG02698.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0064 a0001c0001t0001g0116 a0001c0001t0003g0227 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0116 a0001c0001t0003g0227 a0001c0001t0004g0256	4	386	0.0104	38	c.62- others(53): Show c.62-1269_62-1268insATATATATATATATATATATATATATATAT ATATATAT	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STON2_chr14_81255652_81405324	81308824	A A	ATATATAT others(31): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0027 a0002c0010t0027	a0002c0010t0027g0197 a0002c0010t0027g0197	1	264	0.0038	38	c.742 others(57): Show c.742+15192_742+15193insCACACACACACACACACACACACACA CACATATATATA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STPG2_chr4_97553872_98148476	98072570	T T	TTAAAATA others(31): Show TTAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0104 a0003c0004t0001g0104	1	266	0.0038	38	c.612 others(57): Show c.612+33382_612+33383insTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	38	c.-45 others(55): Show c.-45+1633_-45+1634insGTATATATATATATATATATATATATAT ATATATATAT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STX12_chr1_27768219_27829443	27792152	G G	GTATATAC others(31): Show GTATATACATATATATGTATATATGTATATACATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03239.hp1 NA18964.hp2 HG02451.hp1 HG03239.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0113 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0113	3	228	0.0132	38	c.189 others(55): Show c.189-1380_189-1379insATATACATATATATGTATATATGTATAT ACATATATAT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18995.hp2 NA19085.hp1 NA18941.hp2 NA18995.hp2 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0011 a0003c0003t0003 a0003c0003t0011	a0003c0003t0003g0043 a0003c0003t0003g0047 a0003c0003t0011g0044 a0003c0003t0003g0043 a0003c0003t0003g0047 a0003c0003t0011g0044	3	380	0.0079	38	c.205 others(55): Show c.205+3503_205+3504insATATATATATATATATATATATTTTTTT TTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19003.hp2 NA19012.hp1 NA18956.hp1 NA19003.hp2 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105	3	380	0.0079	38	c.205 others(55): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT ATATTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130835969	A A	AAAGAAAC others(31): Show AAAGAAACTTCATGGAAGCATCACAAATACTTTGTTAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp1 HG02486.hp2 others(8): Show HG01175.hp1 HG01884.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0002 a0002c0002t0018	a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 others(8): Show a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0018g0073	11	380	0.0290	38	c.30+ others(53): Show c.30+3063_30+3100dupATTAACAAAGTATTTGTGATGCTTCCATGA AGTTTCTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	1/10			chr12	TogoVar
STX7_chr6_132440867_132518116	132509475	A A	AAAATAAA others(31): Show AAAATAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0289 a0001c0001t0016g0289	1	380	0.0026	38	c.-59 others(55): Show c.-59+3531_-59+3532insATTTTATTTTATTTTATTTTATTTTATT TTATTTATTT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STXBP5L_chr3_120903205_121429761	121218185	G G	GATATAGT others(31): Show GATATAGTATATATATTACTATATACTATACATAGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(107): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18947.hp1 NA18957.hp2 NA18966.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19078.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0005c0012 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0002c0002t0020 a0003c0003t0001 a0003c0003t0005 a0003c0003t0028 a0005c0012t0003 a0006c0011t0001 a0007c0010t0006	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 others(107): Show a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0216 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0005g0195 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0012g0126 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0022g0035 a0001c0001t0025g0231 a0001c0001t0029g0170 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0129 a0001c0006t0003g0183 a0002c0002t0020g0158 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0005g0199 a0003c0003t0028g0203 a0005c0012t0003g0150 a0006c0011t0001g0214 a0007c0010t0006g0236	110	290	0.3793	38	c.957 others(55): Show c.957-4714_957-4677dupTACATAGTATAATATAGTATATATATTA CTATATACTA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121218239	T T	TACTATAT others(31): Show TACTATATACTATACATAGTATAATATAGTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02965.hp2 others(4): Show HG02559.hp2 HG02723.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0013 a0003c0003t0001 a0003c0003t0013	a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 others(4): Show a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0013g0155 a0003c0003t0013g0166 a0003c0003t0013g0167	7	290	0.0241	38	c.957 others(55): Show c.957-4727_957-4726insAACTATATACTATACATAGTATAATATA GTATATATAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STYXL1_chr7_75991342_76053000	76016417	G G	GTGTGTAT others(31): Show GTGTGTATATATGTATACATGTATACATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02630.hp2 HG02970.hp1 others(2): Show HG01433.hp2 HG02630.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0351 a0001c0003t0005g0352 a0001c0003t0005g0353 others(2): Show a0001c0003t0005g0351 a0001c0003t0005g0352 a0001c0003t0005g0353 a0001c0003t0005g0354 a0001c0003t0005g0355	5	356	0.0140	38	c.308 others(55): Show c.308-2531_308-2530insTACATGTATACATGTATACATGTATACA TATATACACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
SUFU_chr10_102498972_102638535	102638037	T T	TAATAATT others(31): Show TAATAATTATAAATGATAATATATAAAAATATATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	268	0.0037	38	c.78 others(49): Show c.7882_*7883insAATAATTATAAATGATAATATATAAAAATATATA AATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4503		chr10	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(31): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	376	0.0027	38	c.214 others(53): Show c.214+280_214+281insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48602704	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0162 a0002c0008t0001g0162	1	376	0.0027	38	c.32 others(49): Show c.3298_*3299insAAAAAAAAAAAAAAATATATATATATATATATAT ATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3282		chr19	TogoVar
SUMF1_chr3_4356146_4472269	4456618	A A	ATATATAT others(31): Show ATATATATATATATATACGTGTATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG03540.hp2 HG02922.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0378 a0001c0001t0011g0379 a0001c0001t0011g0380 a0001c0001t0011g0378 a0001c0001t0011g0379 a0001c0001t0011g0380	3	392	0.0077	38	c.271 others(55): Show c.271-3570_271-3569insCACACACATATATATATACACGTATATA TATATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456980	A A	ATATATAT others(31): Show ATATATATATACGTGTGTGTATATATATATACGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02559.hp2 HG02717.hp1 others(7): Show HG02056.hp2 HG02559.hp2 HG02717.hp1 HG03453.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp2 NA18997.hp1 NA19012.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0320 a0001c0001t0002g0008 a0001c0001t0002g0319 others(6): Show a0001c0001t0001g0320 a0001c0001t0002g0008 a0001c0001t0002g0319 a0001c0001t0002g0327 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0366 a0001c0001t0004g0328 a0001c0001t0010g0321	10	392	0.0255	38	c.271 others(55): Show c.271-3932_271-3931insCACACACGTATATATATATACACACACG TATATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(31): Show GCCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01109.hp1 others(19): Show HG00408.hp1 HG00621.hp2 HG01109.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02572.hp2 HG02698.hp1 HG03834.hp2 NA18906.hp2 NA18944.hp1 NA18954.hp2 NA18971.hp1 NA19030.hp1 NA19063.hp1 NA19070.hp2 NA19077.hp2 NA20752.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0024 a0002c0002 others(1): Show a0001c0001 a0001c0024 a0002c0002 a0021c0029	a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 a0001c0024t0001 a0002c0002t0001 a0021c0029t0001	a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0125 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0314 a0001c0001t0015g0130 a0001c0001t0024g0237 a0001c0024t0001g0172 a0002c0002t0001g0291 a0021c0029t0001g0155	22	418	0.0526	38	c.198 others(55): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCATGGGCCT TCGCCCCCCC	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(31): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01993.hp2 others(4): Show HG00639.hp1 HG01099.hp1 HG01993.hp2 HG03130.hp2 HG03209.hp2 HG03540.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0022 a0002c0002t0001 a0001c0004t0022 a0002c0002t0001	a0001c0004t0022g0246 a0002c0002t0001g0016 a0002c0002t0001g0058 others(3): Show a0001c0004t0022g0246 a0002c0002t0001g0016 a0002c0002t0001g0058 a0002c0002t0001g0272 a0002c0002t0001g0283 a0002c0002t0001g0290	7	418	0.0168	38	c.198 others(55): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	868727	G G	GCAGTGCT others(31): Show GCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	418	0.0024	38	c.198 others(55): Show c.1981-610_1981-609insTCTGTGGTGTTGGTCGGATGGGGGGACA GTGCTGGTTC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	868879	G G	GCAGTGCT others(31): Show GCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	418	0.0024	38	c.198 others(55): Show c.1981-372_1981-335dupTTGGTCGGATGGGGGGACAGTGCTGGTT CCCTGTGGTG	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

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