JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02895.hp1 NA19030.hp1 HG01975.hp2 HG02895.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0003g0385 a0001c0001t0008g0188 a0001c0001t0001g0081 a0001c0001t0003g0385 a0001c0001t0008g0188	3	415	0.0072	32	c.226 others(51): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01975.hp2 HG02273.hp1 others(1): Show HG00544.hp1 HG01975.hp2 HG02273.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0001t0044	a0001c0001t0002g0262 a0001c0001t0006g0155 a0001c0001t0030g0234 others(1): Show a0001c0001t0002g0262 a0001c0001t0006g0155 a0001c0001t0030g0234 a0001c0001t0044g0313	4	370	0.0108	32	c.-20 others(55): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0349 a0001c0001t0024g0349	1	370	0.0027	32	c.-20 others(55): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT ATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02630.hp2 others(5): Show HG02055.hp2 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG03139.hp2 HG03225.hp2 HG03669.hp1 NA18948.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 others(5): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0037 a0001c0001t0072 a0001c0001t0074 a0003c0005t0076	a0001c0001t0005g0084 a0001c0001t0012g0198 a0001c0001t0015g0195 others(5): Show a0001c0001t0005g0084 a0001c0001t0012g0198 a0001c0001t0015g0195 a0001c0001t0026g0197 a0001c0001t0037g0196 a0001c0001t0072g0092 a0001c0001t0074g0199 a0003c0005t0076g0200	8	370	0.0216	32	c.-20 others(53): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159550058	C C	CTTAATTA others(25): Show CTTAATTATCTTAAGATATCTTAAGAAAATTAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01169.hp2 others(18): Show HG00642.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01433.hp2 HG02027.hp1 HG02145.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp1 NA18747.hp1 NA19007.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0001c0001t0001 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0048 a0001c0002t0001g0061 a0003c0005t0001g0053	21	100	0.2100	32	c.64- others(51): Show c.64-214382_64-214381insATTATCTTAAGATATCTTAAGAAAAT TAATTA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828367	A A	ATATATAT others(25): Show ATATATATATACGTATATATATACATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0027 a0001c0001t0001g0049	2	100	0.0200	32	c.760 others(51): Show c.760-37788_760-37787insTACGTATATATATACATATATATGTA TATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0133 a0002c0002t0133	a0002c0002t0133g0289 a0002c0002t0133g0289	1	372	0.0027	32	c.354 others(47): Show c.354+706_354+707insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT TT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0251 a0001c0001t0251	a0001c0001t0251g0024 a0001c0001t0251g0024	1	372	0.0027	32	c.354 others(47): Show c.354+706_354+707insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT TT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0029 a0001c0001t0137g0029	1	372	0.0027	32	c.354 others(47): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02155.hp2 HG03486.hp2 others(2): Show HG01981.hp2 HG02155.hp2 HG03486.hp2 NA18952.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0106 a0001c0004t0001g0113 a0001c0004t0001g0114 others(2): Show a0001c0002t0001g0106 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0116 a0001c0004t0001g0119	5	288	0.0174	32	c.687 others(49): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0125 a0001c0001t0014g0125	1	250	0.0040	32	c.-59 others(49): Show c.-59-5837_-59-5836insATATATATATATATTTTTTTTTTTTTTT TTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	250	0.0040	32	c.-59 others(49): Show c.-59-5837_-59-5836insATATATATATATATATATTTTTTTTTTT TTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02135.hp2 HG02148.hp1 others(10): Show HG02056.hp2 HG02135.hp2 HG02148.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp2 HG03486.hp2 NA18967.hp1 NA18998.hp2 NA19002.hp2 NA19070.hp1	a0001 a0002 a0028 a0001 a0002 a0028	a0001c0003 a0001c0006 a0001c0007 others(3): Show a0001c0003 a0001c0006 a0001c0007 a0001c0019 a0002c0012 a0028c0037	a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 a0001c0007t0001 a0001c0019t0001 a0002c0012t0001 a0028c0037t0001	a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0033 others(10): Show a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0040 a0001c0003t0001g0177 a0001c0003t0002g0251 a0001c0006t0002g0133 a0001c0006t0002g0151 a0001c0007t0001g0117 a0001c0019t0001g0041 a0002c0012t0001g0084 a0028c0037t0001g0204	13	372	0.0350	32	c.228 others(51): Show c.2280+1685_2280+1716dupAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(25): Show GTGTATATATATATGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01168.hp1 others(11): Show HG00423.hp1 HG00609.hp2 HG01168.hp1 HG02602.hp1 HG02683.hp2 NA18986.hp1 NA18989.hp1 NA19011.hp2 NA19055.hp1 NA19079.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0002 a0025 a0028 a0002 a0025 a0028	a0002c0001 a0025c0041 a0028c0037 a0002c0001 a0025c0041 a0028c0037	a0002c0001t0001 a0002c0001t0002 a0025c0041t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0025c0041t0001 a0028c0037t0001	a0002c0001t0001g0063 a0002c0001t0001g0123 a0002c0001t0001g0126 others(11): Show a0002c0001t0001g0063 a0002c0001t0001g0123 a0002c0001t0001g0126 a0002c0001t0001g0184 a0002c0001t0001g0210 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0243 a0002c0001t0001g0275 a0002c0001t0001g0345 a0002c0001t0001g0349 a0002c0001t0002g0124 a0025c0041t0001g0147 a0028c0037t0001g0204	14	372	0.0376	32	c.186 others(51): Show c.1868-3535_1868-3534insTATATATATATACACACACATATATA TATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(25): Show GTCTATCTATCTATCTGTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03516.hp2 others(1): Show HG02895.hp2 HG02897.hp2 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0250 a0001c0005t0001g0254 a0001c0005t0001g0255 others(1): Show a0001c0005t0001g0250 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0257	4	314	0.0127	32	c.-27 others(53): Show c.-279-35377_-279-35376insTAGATAGACAGACAGACAGATAGA TAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(25): Show GTCTATCTATCTATCTGTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20129.hp1 HG01109.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0243 a0001c0005t0001g0244	2	314	0.0064	32	c.-27 others(53): Show c.-279-35377_-279-35376insTAGACAGACAGACAGACAGATAGA TAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(25): Show GTCTATCTATCTGTCTGTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0313 a0001c0006t0001g0313	1	314	0.0032	32	c.-27 others(53): Show c.-279-35377_-279-35376insTAGATAGACAGACAGACAGACAGA TAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995819	G G	GTCTATCT others(25): Show GTCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18964.hp1 NA18940.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0004 a0002c0003t0001g0035 a0001c0001t0002g0004 a0002c0003t0001g0035	2	314	0.0064	32	c.-27 others(53): Show c.-279-35397_-279-35396insTAGATAGATAGATAGATAGATAGA TAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19002.hp2 NA20805.hp1 NA18522.hp1 NA19002.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0020 a0002c0002t0010 a0002c0002t0027 a0001c0003t0020 a0002c0002t0010 a0002c0002t0027	a0001c0003t0020g0329 a0002c0002t0010g0326 a0002c0002t0027g0152 a0001c0003t0020g0329 a0002c0002t0010g0326 a0002c0002t0027g0152	3	356	0.0084	32	c.964 others(49): Show c.964+1105_964+1106insTATATATATATATATATATATATATATA TATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166050629	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0293 a0001c0001t0024g0293	1	356	0.0028	32	c.964 others(49): Show c.964+1089_964+1090insCATATATATATATATATATATATATATA TATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166072789	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01261.hp1 others(8): Show HG00558.hp2 HG01074.hp1 HG01261.hp1 HG02280.hp1 HG02717.hp1 HG03209.hp2 HG03579.hp1 HG04199.hp2 HG06807.hp2 NA19043.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0006 a0001c0001t0031 a0001c0001t0051 others(5): Show a0001c0001t0006 a0001c0001t0031 a0001c0001t0051 a0001c0004t0032 a0002c0002t0009 a0002c0002t0029 a0002c0002t0030 a0002c0002t0052	a0001c0001t0006g0290 a0001c0001t0031g0346 a0001c0001t0031g0347 others(8): Show a0001c0001t0006g0290 a0001c0001t0031g0346 a0001c0001t0031g0347 a0001c0001t0051g0036 a0001c0004t0032g0089 a0002c0002t0009g0304 a0002c0002t0029g0314 a0002c0002t0029g0315 a0002c0002t0030g0039 a0002c0002t0030g0316 a0002c0002t0052g0307	11	356	0.0309	32	c.264 others(47): Show c.264+568_264+569insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCN4A_chr17_63933554_63977918	63961874	A A	ACCTCCTC others(25): Show ACCTCCTCAAAGCCCCACCCCCGGCTCCAAGCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02896.hp1 others(4): Show HG01934.hp2 HG02055.hp1 HG02896.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0013 a0001c0025 a0001c0038 a0001c0013 a0001c0025 a0001c0038	a0001c0013t0003 a0001c0013t0007 a0001c0025t0008 others(1): Show a0001c0013t0003 a0001c0013t0007 a0001c0025t0008 a0001c0038t0008	a0001c0013t0003g0011 a0001c0013t0007g0260 a0001c0025t0008g0259 others(2): Show a0001c0013t0003g0011 a0001c0013t0007g0260 a0001c0025t0008g0259 a0001c0025t0008g0261 a0001c0038t0008g0215	7	356	0.0197	32	c.160 others(49): Show c.1607-444_1607-443insAGCTTGGAGCCGGGGGTGGGGCTTTGAG GAGG	SCN4A	ENSG00000007314.12	transcript	ENST00000435607.3	protein_coding	10/23			chr17	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03139.hp2 NA18939.hp2 others(2): Show HG00423.hp2 HG03139.hp2 NA18939.hp2 NA18992.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0001c0022 others(1): Show a0001c0003 a0001c0012 a0001c0022 a0002c0005	a0001c0003t0006 a0001c0012t0001 a0001c0022t0006 others(1): Show a0001c0003t0006 a0001c0012t0001 a0001c0022t0006 a0002c0005t0001	a0001c0003t0006g0171 a0001c0012t0001g0040 a0001c0022t0006g0240 others(2): Show a0001c0003t0006g0171 a0001c0012t0001g0040 a0001c0022t0006g0240 a0002c0005t0001g0146 a0002c0005t0001g0225	5	340	0.0147	32	c.278 others(47): Show c.2787+28_2787+29insACACACACACACACACACACACACACACAC AC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166475104	G G	GTATATAT others(25): Show GTATATATATATATACATATATACGTATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0370 a0001c0001t0020g0370	1	394	0.0025	32	c.235 others(47): Show c.235-761_235-760insTATATATACGTATATATGTATATATATATA TA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475122	A A	ATATATAC others(25): Show ATATATACGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp2 others(35): Show HG00140.hp2 HG00323.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02273.hp1 HG02486.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 NA18941.hp1 NA18948.hp1 NA18983.hp1 NA19011.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0001c0012 a0024c0027 a0001c0001 a0001c0012 a0024c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0012t0001 a0001c0012t0011 a0024c0027t0001	a0001c0001t0001g0015 a0001c0001t0001g0297 a0001c0001t0001g0299 others(34): Show a0001c0001t0001g0015 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0003g0305 a0001c0001t0003g0311 a0001c0001t0003g0356 a0001c0001t0012g0321 a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0012t0001g0357 a0001c0012t0011g0316 a0001c0012t0011g0317 a0024c0027t0001g0301	38	394	0.0965	32	c.235 others(47): Show c.235-779_235-778insCGTATATATATATATATATATATACGTATA TA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51721081	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18974.hp2 HG03130.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0015 a0001c0001t0006g0202 a0001c0001t0003g0015 a0001c0001t0006g0202	2	202	0.0099	32	c.163 others(49): Show c.1636-439_1636-438insTATATATATATATATATATATATATATA TATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23343475	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0108 a0001c0001t0001g0001 a0001c0001t0001g0108	2	306	0.0065	32	c.-8- others(47): Show c.-8-5114_-8-5083dupGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288086	C C	CAGGGGGT others(25): Show CAGGGGGTGTGGGGGCAGGTGAGGCTGGGCTGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0157 a0005c0011t0001g0158 a0005c0011t0001g0156 a0005c0011t0001g0157 a0005c0011t0001g0158	3	290	0.0103	32	c.166 others(47): Show c.1662+49_1662+50insAGGGGGTGTGGGGGCAGGTGAGGCTGGGCT GG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288227	C C	CTGCTCCG others(25): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18967.hp2 NA18970.hp1 others(2): Show HG03490.hp1 NA18967.hp2 NA18970.hp1 NA18998.hp1 NA19009.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0134 a0003c0004t0003g0144 a0003c0004t0003g0145 others(2): Show a0003c0004t0003g0134 a0003c0004t0003g0144 a0003c0004t0003g0145 a0003c0004t0003g0152 a0003c0004t0003g0154	5	290	0.0172	32	c.166 others(49): Show c.1662+191_1662+192insGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCT others(25): Show CCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0025 a0025	a0025c0044 a0025c0044	a0025c0044t0003 a0025c0044t0003	a0025c0044t0003g0257 a0025c0044t0003g0257	1	290	0.0035	32	c.166 others(49): Show c.1663-342_1663-341insGTGTCTGCTCCGTCCCGTGTCTCTGCCC CGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(25): Show TACATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0299 a0001c0002t0003g0299	1	320	0.0031	32	c.107 others(51): Show c.1078-5417_1078-5416insCATATATATATATATATATATAGAGA GAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(25): Show TACATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0294 a0001c0002t0003g0294	1	320	0.0031	32	c.107 others(51): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA TAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TACATATA others(25): Show TACATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	320	0.0031	32	c.107 others(51): Show c.1078-5415_1078-5414insCATATATATATATATATATATATATA TATAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	320	0.0031	32	c.107 others(51): Show c.1078-5415_1078-5414insTATATATATATATATAGAGAGAGAGA GAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18966.hp1 HG02080.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0306 a0001c0002t0003g0280 a0001c0002t0003g0306	2	320	0.0063	32	c.107 others(51): Show c.1078-5415_1078-5414insTATATATATATATATATATATATAGA GAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43192588	A A	ACGTATAT others(25): Show ACGTATATATATATATACGTATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG01981.hp1 others(3): Show HG00280.hp2 HG01346.hp1 HG01981.hp1 HG03239.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0054 a0002c0002 a0001c0003 a0001c0054 a0002c0002	a0001c0003t0003 a0001c0003t0064 a0001c0054t0030 others(1): Show a0001c0003t0003 a0001c0003t0064 a0001c0054t0030 a0002c0002t0010	a0001c0003t0003g0127 a0001c0003t0003g0140 a0001c0003t0064g0167 others(3): Show a0001c0003t0003g0127 a0001c0003t0003g0140 a0001c0003t0064g0167 a0001c0054t0030g0017 a0002c0002t0010g0114 a0002c0002t0010g0147	6	280	0.0214	32	c.11 others(45): Show c.11408_*11409insCATATATATATATACGTATATATATATATACG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4691		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192591	C C	CGTATATA others(25): Show CGTATATATATATACGTATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0032 a0001c0008t0032	a0001c0008t0032g0010 a0001c0008t0032g0010	1	280	0.0036	32	c.11 others(45): Show c.11405_*11406insATATATATATATATATACGTATATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4688		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192591	C C	CGTATATA others(25): Show CGTATATATATATATACGTATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG02015.hp1 others(16): Show HG00544.hp1 HG00597.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp2 HG02165.hp1 HG03831.hp2 NA18948.hp1 NA18954.hp1 NA18966.hp1 NA18969.hp2 NA18995.hp1 NA19007.hp2 NA19009.hp1 NA19064.hp2 NA19065.hp2 NA19080.hp2 NA19083.hp2	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0012 a0016	a0002c0002 a0003c0007 a0008c0017 others(2): Show a0002c0002 a0003c0007 a0008c0017 a0012c0032 a0016c0036	a0002c0002t0002 a0002c0002t0024 a0002c0002t0059 others(7): Show a0002c0002t0002 a0002c0002t0024 a0002c0002t0059 a0002c0002t0061 a0003c0007t0002 a0008c0017t0024 a0008c0017t0057 a0008c0017t0058 a0012c0032t0002 a0016c0036t0002	a0002c0002t0002g0036 a0002c0002t0002g0080 a0002c0002t0002g0096 others(16): Show a0002c0002t0002g0036 a0002c0002t0002g0080 a0002c0002t0002g0096 a0002c0002t0002g0107 a0002c0002t0002g0113 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0224 a0002c0002t0002g0250 a0002c0002t0024g0182 a0002c0002t0059g0103 a0002c0002t0061g0176 a0003c0007t0002g0085 a0003c0007t0002g0229 a0008c0017t0024g0162 a0008c0017t0057g0121 a0008c0017t0058g0165 a0012c0032t0002g0019 a0016c0036t0002g0136	19	280	0.0679	32	c.11 others(45): Show c.11405_*11406insATATATATATATATACGTATATATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4688		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192592	G G	GTATATAT others(25): Show GTATATATATATATACGTATATATATATATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03453.hp2 HG03579.hp1 HG02615.hp1 HG03453.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0010 a0003c0001 a0001c0006 a0001c0010 a0003c0001	a0001c0006t0075 a0001c0010t0092 a0003c0001t0085 a0001c0006t0075 a0001c0010t0092 a0003c0001t0085	a0001c0006t0075g0024 a0001c0010t0092g0274 a0003c0001t0085g0267 a0001c0006t0075g0024 a0001c0010t0092g0274 a0003c0001t0085g0267	3	280	0.0107	32	c.11 others(45): Show c.11404_*11405insTACATATATATATATACGTATATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4687		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43341083	A A	ACACACAC others(25): Show ACACACACACACACACATGCATGCACGTGTGCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03041.hp2 others(1): Show HG02055.hp2 HG02258.hp2 HG03041.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0020 a0002c0002 a0001c0004 a0001c0020 a0002c0002	a0001c0004t0016 a0001c0020t0017 a0002c0002t0018 a0001c0004t0016 a0001c0020t0017 a0002c0002t0018	a0001c0004t0016g0015 a0001c0020t0017g0014 a0002c0002t0018g0011 others(1): Show a0001c0004t0016g0015 a0001c0020t0017g0014 a0002c0002t0018g0011 a0002c0002t0018g0012	4	280	0.0143	32	c.89- others(47): Show c.89-1849_89-1848insCGCACACGTGCATGCATGTGTGTGTGTGTG TG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02080.hp2 HG01943.hp1 HG02080.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0016 a0003c0003 a0012c0016	a0003c0003t0021 a0012c0016t0007 a0003c0003t0021 a0012c0016t0007	a0003c0003t0021g0180 a0012c0016t0007g0216 a0003c0003t0021g0180 a0012c0016t0007g0216	2	358	0.0056	32	c.120 others(49): Show c.1208-967_1208-966insAAAAAAAATATATATATATATATATATA TATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0100 a0002c0002t0015g0100	1	358	0.0028	32	c.120 others(49): Show c.1208-967_1208-966insAAAAAAAAAAAAAATATATATATATATA TATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144262743	A A	ACACCCCT others(25): Show ACACCCCTCACCTGCAGGGTGCACCGCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02109.hp2 others(12): Show HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02647.hp1 HG02683.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG04199.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	15	440	0.0341	32	c.-38 others(43): Show c.-3871_-3870insCACCCCTCACCTGCAGGGTGCACCGCCCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3709		chr8	TogoVar
SCX_chr8_144261453_144273481	144262804	C C	CCCCCCCC others(25): Show CCCCCCCCCACCCCTCACCTGCAGGGTACACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02257.hp2 HG02280.hp1 others(15): Show HG01123.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02683.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0003	18	440	0.0409	32	c.-38 others(43): Show c.-3810_-3809insCCCCCCCCACCCCTCACCTGCAGGGTACACCG	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3648		chr8	TogoVar
SCX_chr8_144261453_144273481	144262805	C C	CCCCCCCC others(25): Show CCCCCCCCAACCCCTCACCTGCAGGGTACACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	440	0.0023	32	c.-38 others(43): Show c.-3809_-3808insCCCCCCCAACCCCTCACCTGCAGGGTACACCG	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3647		chr8	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(25): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(31): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp2 HG02129.hp1 HG02258.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03710.hp2 HG03942.hp1 HG04204.hp1 NA18960.hp1 NA18964.hp2 NA18971.hp2 NA18978.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19057.hp1 NA19081.hp2 NA19083.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0002c0008 a0003c0003 a0004c0004	a0001c0001t0000 a0001c0006t0000 a0002c0002t0000 others(3): Show a0001c0001t0000 a0001c0006t0000 a0002c0002t0000 a0002c0008t0000 a0003c0003t0000 a0004c0004t0000	a0001c0001t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 others(3): Show a0001c0001t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 a0002c0008t0000g0000 a0003c0003t0000g0000 a0004c0004t0000g0000	34	457	0.0744	32	c.36 others(43): Show c.3621_*3622insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3622		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65520956	C C	CTGTTAGC others(25): Show CTGTTAGCTAAGCTTAAAGTTCCCACTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	278	0.0036	32	c.-41 others(43): Show c.-4198_-4197insTGTTAGCTAAGCTTAAAGTTCCCACTATTTTA	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		4126		chr11	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0308 a0001c0001t0087g0308	1	418	0.0024	32	c.26 others(43): Show c.2667_*2668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75945783	T T	TTTCCCAG others(25): Show TTTCCCAGAATTAGGGTTTCCATTTTGTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0035 a0002c0003t0004g0035	1	376	0.0027	32	c.49 others(43): Show c.4935_*4966dupTAAGAACAAAATGGAAACCCTAATTCTGGGAA	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		4131		chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	ATAATATA others(25): Show ATAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0338 a0001c0002t0004g0338	1	376	0.0027	32	c.-32 others(43): Show c.-3205_-3204insATATATATATATATATATATATATATATATTA	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar

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