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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
SIRPG_chr20_1624152_1662779	1650002	G G	GTATGTAT others(25): Show GTATGTATGTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0098 a0002c0002t0003g0098	1	396	0.0025	32	c.74- others(45): Show c.74-595_74-594insTATATATATATATATATATACATACATACATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp2 NA18965.hp2 others(2): Show NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18999.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0005g0008 a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0005g0008	5	434	0.0115	32	c.21 others(43): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SIT1_chr9_35644295_35655931	35653281	T T	TCACTCCA others(25): Show TCACTCCACTGCACTGCAGCCTGGGCGACAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG02055.hp1 others(23): Show HG00639.hp2 HG01175.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp1 HG03688.hp1 HG04228.hp2 HG06807.hp2 NA18962.hp1 NA18962.hp2 NA18992.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	26	434	0.0599	32	c.-24 others(43): Show c.-2429_-2428insCTCTGTCGCCCAGGCTGCAGTGCAGTGGAGTG	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		2351		chr9	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CAGCAGCA others(25): Show CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	414	0.0024	32	c.-13 others(43): Show c.-1361_-1360insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01169.hp1 HG02155.hp1 others(9): Show HG00544.hp2 HG01169.hp1 HG02155.hp1 HG02602.hp1 HG02976.hp2 HG03834.hp2 NA18941.hp2 NA18964.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA19077.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0026 a0004c0004 a0001c0001 a0001c0026 a0004c0004	a0001c0001t0001 a0001c0026t0001 a0004c0004t0004 a0001c0001t0001 a0001c0026t0001 a0004c0004t0004	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0026t0001g0111 a0004c0004t0004g0109	12	266	0.0451	32	c.636 others(45): Show c.636-33_636-32insATATATATATATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48367536	G G	GTATATAT others(25): Show GTATATATATATATATATGGATATATATCCATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	292	0.0034	32	c.153 others(49): Show c.153-3723_153-3722insTATGGATATATATCCATATATATATATA TATA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48367561	C C	CATATATA others(25): Show CATATATATATATATATATGGATATATATCCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	292	0.0034	32	c.153 others(49): Show c.153-3748_153-3747insATGGATATATATCCATATATATATATAT ATAT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0122 a0001c0001t0001g0046 a0001c0001t0001g0122	2	344	0.0058	32	c.267 others(47): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG02559.hp1 others(3): Show HG00140.hp2 HG01167.hp2 HG02559.hp1 HG03688.hp2 NA18950.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0081 a0001c0001t0001g0144 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0319 a0001c0001t0002g0033 a0001c0001t0013g0205	6	360	0.0167	32	c.46 others(43): Show c.4678_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(25): Show TACATACATACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG06807.hp2 HG01106.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0309 a0001c0001t0001g0045 a0001c0001t0001g0309	2	360	0.0056	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(25): Show TACATACATACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG01070.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0155 a0001c0001t0001g0003 a0001c0001t0001g0155	2	360	0.0056	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(25): Show TACATACATACATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01517.hp1 others(9): Show HG00280.hp1 HG00609.hp2 HG01517.hp1 HG02135.hp1 HG02451.hp2 HG02897.hp2 HG03486.hp1 HG03516.hp2 HG04228.hp1 NA18906.hp2 NA18978.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0001 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0161 others(9): Show a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0197 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0281 a0001c0001t0001g0311 a0001c0001t0006g0338 a0001c0001t0014g0287	12	360	0.0333	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACTTACA others(25): Show TACTTACATACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	360	0.0028	32	c.47 others(43): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGTATGTAAGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A1_chr14_69770416_69802241	69788802	T T	TCCCCCGG others(25): Show TCCCCCGGGCCTCCCCCCCCCCCCCCCCACCCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	340	0.0029	32	c.357 others(49): Show c.357-2496_357-2495insGGGGTGGGGGGGGGGGGGGGGAGGCCCG GGGG	SLC10A1	ENSG00000100652.5	transcript	ENST00000216540.5	protein_coding	1/4			chr14	TogoVar
SLC10A6_chr4_86818468_86854384	86837225	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	350	0.0029	32	c.378 others(49): Show c.378-3833_378-3802dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837285	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	350	0.0029	32	c.378 others(49): Show c.378-3862_378-3861insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAGAGAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0309 a0001c0004t0002g0309	1	350	0.0029	32	c.378 others(49): Show c.378-3863_378-3862insCCTTTCTTTTTCTCTCTTTCTTTCTTTC TTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAGAGAAAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	350	0.0029	32	c.378 others(49): Show c.378-3863_378-3862insCCTTCCTTTCTTTTTCTCTCTTTCTTTC TTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(25): Show AGAAAGAAAGAGAGAAAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	350	0.0029	32	c.378 others(49): Show c.378-3863_378-3862insCCTTCCTTCCTTTCTTTTTCTCTCTTTC TTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02074.hp2 NA19058.hp2 HG01934.hp2 HG02074.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0012 a0001c0001t0001g0184 a0001c0001t0001g0185	3	350	0.0086	32	c.377 others(49): Show c.377+5921_377+5952dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A7_chr4_146248981_146526940	146468467	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	244	0.0041	32	c.397 others(51): Show c.397-25647_397-25646insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	4/11			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48294899	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	266	0.0038	32	c.296 others(51): Show c.2960+3062_2960+3063insATTTATTTATTTATTTATTTATTTAT TTATTT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02886.hp1 NA18999.hp2 HG02602.hp1 HG02886.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0031 a0001c0002t0001 a0001c0002t0031	a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0002t0031g0144 a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0002t0031g0144	3	354	0.0085	32	c.104 others(51): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAA TTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56907444	C C	CGAGACTC others(25): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0021 a0009c0035t0021	a0009c0035t0021g0112 a0009c0035t0021g0112	1	420	0.0024	32	c.292 others(51): Show c.2924+2982_2924+2983insGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAA	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25			chr16	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	32	c.224 others(51): Show c.2241+3587_2241+3588insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070182	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 NA18906.hp1 HG02451.hp2 HG02622.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0008 a0001c0003 a0002c0002 a0002c0008	a0001c0003t0003 a0002c0002t0002 a0002c0008t0004 a0001c0003t0003 a0002c0002t0002 a0002c0008t0004	a0001c0003t0003g0019 a0002c0002t0002g0106 a0002c0008t0004g0080 a0001c0003t0003g0019 a0002c0002t0002g0106 a0002c0008t0004g0080	3	118	0.0254	32	c.224 others(51): Show c.2241+3450_2241+3451insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19240.hp1 HG02273.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0016 a0001c0017 a0002c0016	a0001c0017t0004 a0002c0016t0010 a0001c0017t0004 a0002c0016t0010	a0001c0017t0004g0020 a0002c0016t0010g0082 a0001c0017t0004g0020 a0002c0016t0010g0082	2	118	0.0170	32	c.224 others(51): Show c.2241+3109_2241+3110insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070712	C C	CGGGCATC others(25): Show CGGGCATCACACTTATGCAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	32	c.224 others(51): Show c.2241+2920_2241+2921insCGTGTGCTGGGGGCTGCATAAGTGTG ATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	32	c.224 others(51): Show c.2241+2851_2241+2852insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	32	c.224 others(51): Show c.2241+2346_2241+2347insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072040	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	32	c.224 others(51): Show c.2241+1592_2241+1593insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072135	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	32	c.224 others(51): Show c.2241+1497_2241+1498insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072229	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	32	c.224 others(51): Show c.2241+1403_2241+1404insGCGTTAAGTGTGATGCCCGTGTGCTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072752	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGTATCACACTTAACGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	118	0.0085	32	c.224 others(49): Show c.2241+880_2241+881insGCGTTAAGTGTGATACCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072846	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	118	0.0085	32	c.224 others(49): Show c.2241+786_2241+787insGCGTTAAGTGTGATGCCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073078	G G	GAGCCCCC others(25): Show GAGCCCCCAGCACACGGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	32	c.224 others(49): Show c.2241+554_2241+555insGCGTTAAGTGTGATGCCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632906	T T	TAGACAGA others(25): Show TAGACAGACAGATAGCTCTTTATCTACCCACCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02257.hp2 HG02896.hp2 others(10): Show HG00544.hp1 HG02257.hp2 HG02896.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18964.hp1 NA18971.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp2 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0002t0002 a0001c0003t0006 a0001c0004t0001 a0001c0005t0002 a0001c0005t0005 a0001c0008t0001 a0003c0010t0003	a0001c0001t0001g0357 a0001c0001t0003g0200 a0001c0001t0003g0262 others(10): Show a0001c0001t0001g0357 a0001c0001t0003g0200 a0001c0001t0003g0262 a0001c0001t0014g0039 a0001c0002t0002g0234 a0001c0002t0002g0237 a0001c0003t0006g0227 a0001c0004t0001g0356 a0001c0005t0002g0201 a0001c0005t0002g0253 a0001c0005t0005g0159 a0001c0008t0001g0199 a0003c0010t0003g0202	13	390	0.0333	32	c.111 others(51): Show c.111+18404_111+18405insGGGTGGGTAGATAAAGAGCTATCTGT CTGTCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632908	G G	GACAGATA others(25): Show GACAGATAGCTCTTTATCTACCCACCCAGATCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG03209.hp1 others(2): Show HG01106.hp2 HG02055.hp2 HG03209.hp1 NA18940.hp1 NA18999.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0006c0025	a0001c0001t0001 a0001c0002t0002 a0001c0003t0009 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0009 a0001c0008t0001 a0006c0025t0001	a0001c0001t0001g0261 a0001c0002t0002g0366 a0001c0003t0009g0032 others(2): Show a0001c0001t0001g0261 a0001c0002t0002g0366 a0001c0003t0009g0032 a0001c0008t0001g0198 a0006c0025t0001g0223	5	390	0.0128	32	c.111 others(51): Show c.111+18402_111+18403insAGATCTGGGTGGGTAGATAAAGAGCT ATCTGT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632910	T T	TAGACAGA others(25): Show TAGACAGACAGATAGCTCTTTATCTACCCACCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01167.hp1 others(33): Show HG00642.hp1 HG00735.hp2 HG01167.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG02040.hp1 HG02132.hp1 HG02258.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18952.hp1 NA18964.hp2 NA18968.hp2 NA18972.hp2 NA18981.hp2 NA18992.hp2 NA19000.hp2 NA19060.hp2 NA19078.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0026 a0002c0009 a0003c0010 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0003 a0001c0005t0005 a0001c0006t0001 a0001c0007t0010 a0001c0008t0001 a0001c0026t0005 a0002c0009t0001 a0003c0010t0003 a0009c0021t0019	a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0074 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0001g0267 a0001c0001t0002g0231 a0001c0001t0002g0347 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0163 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0003g0266 a0001c0001t0003g0297 a0001c0002t0002g0132 a0001c0002t0002g0346 a0001c0002t0005g0148 a0001c0003t0004g0206 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0009g0230 a0001c0004t0001g0164 a0001c0004t0001g0242 a0001c0004t0003g0002 a0001c0004t0003g0165 a0001c0004t0003g0194 a0001c0005t0005g0295 a0001c0006t0001g0229 a0001c0007t0010g0296 a0001c0008t0001g0208 a0001c0026t0005g0082 a0002c0009t0001g0105 a0002c0009t0001g0106 a0003c0010t0003g0059 a0009c0021t0019g0369	36	390	0.0923	32	c.111 others(51): Show c.111+18400_111+18401insGGGTGGGTAGATAAAGAGCTATCTGT CTGTCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632910	T T	TAGATAGA others(25): Show TAGATAGACAGATAGCTCTTTATCTACCCACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02615.hp2 NA19066.hp2 HG00099.hp1 HG02615.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0003t0008 a0001c0006t0002 a0001c0001t0003 a0001c0003t0008 a0001c0006t0002	a0001c0001t0003g0141 a0001c0003t0008g0160 a0001c0006t0002g0146 a0001c0001t0003g0141 a0001c0003t0008g0160 a0001c0006t0002g0146	3	390	0.0077	32	c.111 others(51): Show c.111+18400_111+18401insGGGTGGGTAGATAAAGAGCTATCTGT CTATCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGACAGAT others(25): Show AGACAGATAGCTCTTTATCTACCCACCCAGATC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0012 a0001c0002t0011g0012	1	390	0.0026	32	c.111 others(51): Show c.111+18399_111+18400insGATCTGGGTGGGTAGATAAAGAGCTA TCTGTC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632914	T T	TAGACAGA others(25): Show TAGACAGACAGATAGCTCTTTATCTACCCACCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02572.hp1 HG02622.hp1 others(13): Show HG01099.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02965.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp2 HG04199.hp1 NA18950.hp1 NA18957.hp2 NA18985.hp2 NA18991.hp1 NA19074.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0014 a0007c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0005t0005 a0001c0006t0009 a0001c0014t0001 a0007c0022t0004	a0001c0001t0001g0325 a0001c0001t0002g0348 a0001c0001t0003g0178 others(13): Show a0001c0001t0001g0325 a0001c0001t0002g0348 a0001c0001t0003g0178 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0170 a0001c0002t0002g0302 a0001c0002t0002g0336 a0001c0002t0002g0374 a0001c0003t0004g0303 a0001c0004t0001g0169 a0001c0005t0001g0027 a0001c0005t0005g0355 a0001c0006t0009g0045 a0001c0014t0001g0007 a0007c0022t0004g0241	16	390	0.0410	32	c.111 others(51): Show c.111+18396_111+18397insGGGTGGGTAGATAAAGAGCTATCTGT CTGTCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A4_chr7_135676231_135733186	135718087	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	372	0.0027	32	c.228 others(49): Show c.228+3307_228+3308insCACGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding	2/15			chr7	TogoVar
SLC13A5_chr17_6679719_6718369	6713857	G G	GAGAGGTG others(25): Show GAGAGGTGTTCGTCTGTTGTCGGTGTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	454	0.0022	32	c.-52 others(41): Show c.-525_-524insAAGAAGAACACCGACAACAGACGAACACCTCT	SLC13A5	ENSG00000141485.17	transcript	ENST00000433363.7	protein_coding		489		chr17	TogoVar
SLC14A2_chr18_45610476_45688688	45645622	T T	TATACATA others(25): Show TATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01168.hp1 others(4): Show HG00280.hp1 HG00323.hp1 HG01168.hp1 HG02523.hp2 HG03669.hp1 HG03704.hp1 NA19087.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0016	a0001c0002 a0002c0001 a0003c0006 others(2): Show a0001c0002 a0002c0001 a0003c0006 a0007c0009 a0016c0021	a0001c0002t0003 a0002c0001t0002 a0003c0006t0002 others(2): Show a0001c0002t0003 a0002c0001t0002 a0003c0006t0002 a0007c0009t0001 a0016c0021t0005	a0001c0002t0003g0215 a0002c0001t0002g0346 a0003c0006t0002g0204 others(4): Show a0001c0002t0003g0215 a0002c0001t0002g0346 a0003c0006t0002g0204 a0003c0006t0002g0349 a0007c0009t0001g0039 a0007c0009t0001g0191 a0016c0021t0005g0376	7	402	0.0174	32	c.135 others(51): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA TATACA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC15A2_chr3_121889401_121949188	121944840	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	338	0.0030	32	c.38 others(43): Show c.3833_*3834insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding		653		chr3	TogoVar
SLC16A12_chr10_89425299_89540594	89436804	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0231 a0001c0001t0005g0231	1	292	0.0034	32	c.102 others(49): Show c.1029-486_1029-485insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding	6/7			chr10	TogoVar
SLC16A12_chr10_89425299_89540594	89436914	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	292	0.0034	32	c.102 others(49): Show c.1029-596_1029-595insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding	6/7			chr10	TogoVar
SLC16A2_chrX_74416493_74538916	74435528	T T	TATATATG others(25): Show TATATATGTATATATATATGCATATATATATGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp1 others(89): Show HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0187 a0001c0001t0008g0163 a0001c0001t0011g0221 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0003c0004t0001g0158	92	235	0.3915	32	c.430 others(51): Show c.430+13467_430+13468insGTATATATATATGCATATATATATGC ATATAT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02027.hp1 HG02523.hp2 others(7): Show HG01981.hp2 HG02027.hp1 HG02523.hp2 HG03516.hp2 NA18952.hp1 NA18962.hp1 NA18971.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0005t0001g0102	10	235	0.0426	32	c.430 others(51): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)