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
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18962.hp1 NA19009.hp2 HG02273.hp1 NA18962.hp1 NA19009.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0002c0028 a0015c0032 a0002c0002 a0002c0028 a0015c0032	a0002c0002t0001 a0002c0028t0003 a0015c0032t0008 a0002c0002t0001 a0002c0028t0003 a0015c0032t0008	a0002c0002t0001g0010 a0002c0028t0003g0202 a0015c0032t0008g0207 a0002c0002t0001g0010 a0002c0028t0003g0202 a0015c0032t0008g0207	3	218	0.0138	42	c.324 others(61): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	410865	C C	CGGGGGTG others(35): Show CGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0229 a0001c0004t0001g0229	1	242	0.0041	42	c.-15 others(59): Show c.-153-839_-153-838insCTCCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(35): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(15): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01256.hp2 HG02071.hp1 HG02486.hp1 HG04204.hp2 HG04228.hp2 NA18970.hp1 NA18978.hp2 NA19009.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0005c0013t0001 a0001c0001t0001 a0005c0013t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0039 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0147 a0005c0013t0001g0146	18	242	0.0744	42	c.-15 others(61): Show c.-153-1244_-153-1243insCCCCGACTGCATTCAGACATGGTCAG AGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(35): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	242	0.0041	42	c.-15 others(61): Show c.-153-1244_-153-1243insCCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412047	C C	CGGGGGGG others(35): Show CGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	242	0.0041	42	c.-15 others(61): Show c.-153-2021_-153-2020insCGACTGCATCCAGACATGGTCAGAGC TGGGCACCCCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK1_chr21_43409483_43432131	43418729	G G	GGGGGGGG others(35): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	32	0.0313	42	c.146 others(59): Show c.1463-189_1463-188insTCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCC	SIK1	ENSG00000142178.9	transcript	ENST00000270162.8	protein_coding	11/13			chr21	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	366	0.0027	42	c.274 others(61): Show c.274-56838_274-56837insACACACACATACACACACACACACAC ACACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305530	T T	TGGGGGGT others(35): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	360	0.0028	42	c.173 others(61): Show c.1735-8155_1735-8154insTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305706	T T	TGGGGGGT others(35): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0258 a0001c0001t0001g0277	2	360	0.0056	42	c.173 others(61): Show c.1735-7979_1735-7978insTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31275854	C C	CAGGCTGA others(35): Show CAGGCTGAGCAGGAGCAGATCAGGGAGGGTGGGCCAGGCAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	349	0.0029	42	c.68 others(53): Show c.6857_*6858insCTTTGCCTGGCCCACCCTCCCTGATCTGCTCCTG CTCAGCCT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		4729		chr12	TogoVar
SIPA1L1_chr14_71315476_71746209	71446894	G G	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	174	0.0058	42	c.-46 others(63): Show c.-464-65838_-464-65837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIX5_chr19_45759785_45774252	45759810	T T	TATTTAGA others(35): Show TATTTAGACTGAGTTTCCCTGTTGTCGCCCAGGCTGGGGTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0033 a0003c0003t0014g0033	1	414	0.0024	42	c.56 others(53): Show c.5690_*5691insTGCACCCCAGCCTGGGCGACAACAGGGAAACTCA GTCTAAAT	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		4974		chr19	TogoVar
SKA1_chr18_50370046_50399168	50389553	A A	AGTTAATA others(35): Show AGTTAATAGTACAAAAGCTACACAACAGATACCACAACATAAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0084 a0003c0003t0004g0084	1	387	0.0026	42	c.450 others(59): Show c.450-1571_450-1570insGTTAATAGTACAAAAGCTACACAACAGA TACCACAACATAAC	SKA1	ENSG00000154839.10	transcript	ENST00000285116.8	protein_coding	5/6			chr18	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	292	0.0034	42	c.46+ others(59): Show c.46+16551_46+16552insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	292	0.0034	42	c.46+ others(59): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	330	0.0030	42	c.970 others(61): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(35): Show GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0047	1	330	0.0030	42	c.970 others(61): Show c.970-22243_970-22242insGACGCCCGAGAGGACAGGCGGCGGCG GCGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281252	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	330	0.0030	42	c.970 others(61): Show c.970-21726_970-21725insGACGCCCGAGAAGACAGGTGGTGGCG GAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281339	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	330	0.0030	42	c.970 others(61): Show c.970-21639_970-21638insGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281687	C C	CGCCCGAG others(35): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	330	0.0030	42	c.970 others(61): Show c.970-21283_970-21282insAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282114	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0126 a0001c0001t0015g0126	1	330	0.0030	42	c.970 others(61): Show c.970-20864_970-20863insGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2309780	G G	GCCCCCCC others(35): Show GCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0087 a0001c0001t0049g0087	1	330	0.0030	42	c.30 others(53): Show c.3023_*3024insCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC CCCCCCCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	7/7	3024	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19063.hp1 NA19085.hp1 others(1): Show NA19058.hp2 NA19063.hp1 NA19085.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0003g0013	4	360	0.0111	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	360	0.0028	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	360	0.0028	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACATACATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0275 a0005c0007t0001g0275	1	360	0.0028	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACATATACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA19065.hp1 NA19090.hp2 NA18980.hp1 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0274 a0001c0001t0001g0298 a0001c0001t0001g0304	3	360	0.0083	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0214 a0001c0001t0007g0214	1	360	0.0028	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77704819	G G	GTATATAT others(35): Show GTATATATACATAGAAACTGTATATACAGAGGTTTTATATGTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	300	0.0033	42	c.626 others(59): Show c.626+6287_626+6328dupTACATAGAAACTGTATATACAGAGGTTT TATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC10A6_chr4_86818468_86854384	86837316	A A	AGGAAGGA others(35): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	350	0.0029	42	c.378 others(59): Show c.378-3893_378-3892insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48240044	T T	TATATATA others(35): Show TATATATATATATATCCATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	266	0.0038	42	c.121 others(61): Show c.1216-1467_1216-1466insATATATATATCCATATATATATATAT ATATATATATCCATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34340745	T T	TGGGGGGG others(35): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0073 a0001c0001t0024g0073	1	274	0.0037	42	c.-34 others(53): Show c.-3487_-3486insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding		2965		chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070032	T T	TGCAGCCC others(35): Show TGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	118	0.0085	42	c.224 others(61): Show c.2241+3600_2241+3601insGTTAAGTGTGATGCCGTGTGCTGGGG GCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070208	G G	GGGCATCA others(35): Show GGGCATCACACTTAACGCAGGCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	42	c.224 others(61): Show c.2241+3424_2241+3425insGTGTGCTGGGGGCTCACTGGGGCCTG CGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070473	G G	GCCCCAGT others(35): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0016 a0002c0022t0016	a0002c0022t0016g0065 a0002c0022t0016g0065	1	118	0.0085	42	c.224 others(61): Show c.2241+3118_2241+3159dupGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070486	C C	CCCAGCAC others(35): Show CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	42	c.224 others(61): Show c.2241+3146_2241+3147insCGGCTCACTGGGGGCTGCATAAGTGT GATGCCCGTGTGCTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070847	C C	CGGGCATC others(35): Show CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	118	0.0085	42	c.224 others(61): Show c.2241+2785_2241+2786insCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071352	C C	CGGGCATC others(35): Show CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0024	1	118	0.0085	42	c.224 others(61): Show c.2241+2280_2241+2281insCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071435	G G	GGGCATCA others(35): Show GGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	42	c.224 others(61): Show c.2241+2197_2241+2198insGTGTGCTGGGGGCTCACTGGGGGCTG CGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071517	C C	CGGCATCA others(35): Show CGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	42	c.224 others(61): Show c.2241+2115_2241+2116insCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071903	T T	TGCAGCCC others(35): Show TGCAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	118	0.0085	42	c.224 others(61): Show c.2241+1729_2241+1730insGTTAAGTGTGATGCCGTGTGCTGGAG GCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071931	G G	GGGCATCA others(35): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	118	0.0085	42	c.224 others(61): Show c.2241+1701_2241+1702insTGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	G G	GCCCCAGT others(35): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	118	0.0085	42	c.224 others(61): Show c.2241+1641_2241+1642insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072229	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0067 a0002c0008t0002g0067	1	118	0.0085	42	c.224 others(61): Show c.2241+1403_2241+1404insGCGTTAAGTGTGATGCCGTGTGCTGG GGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072404	T T	TGCAGCCC others(35): Show TGCAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	118	0.0085	42	c.224 others(61): Show c.2241+1228_2241+1229insGTTAAGTGTGATGCCGTGTGCTGGAG GCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072459	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	42	c.224 others(61): Show c.2241+1132_2241+1173dupGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072605	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	42	c.224 others(60): Show c.2241+986_2241+1027dupGCATAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072846	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19030.hp1 HG03654.hp1 NA19030.hp1	a0002 a0002	a0002c0025 a0002c0038 a0002c0025 a0002c0038	a0002c0025t0004 a0002c0038t0014 a0002c0025t0004 a0002c0038t0014	a0002c0025t0004g0061 a0002c0038t0014g0118 a0002c0025t0004g0061 a0002c0038t0014g0118	2	118	0.0170	42	c.224 others(59): Show c.2241+786_2241+787insGCATAAGTGTGATACCCGTGTGCTGGGG GCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072981	T T	TGCAGCCC others(35): Show TGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	118	0.0085	42	c.224 others(59): Show c.2241+651_2241+652insGTTAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073009	G G	GGGCATCA others(35): Show GGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	118	0.0085	42	c.224 others(59): Show c.2241+623_2241+624insGTGTGCTGGGGGCTCACTGGGGGCTGCG TTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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