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
SHCBP1L_chr1_182894865_182958166	182924703	A A	AAGGAAAG others(14): Show AAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	302	0.0033	21	c.118 others(40): Show c.1182+4943_1182+4944insCTTCCTTTCCTTTCCTTTCCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924974	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0061 a0003c0006t0001g0061	1	302	0.0033	21	c.118 others(40): Show c.1182+4672_1182+4673insTCTTTCTTTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182931943	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0062 a0003c0006t0001g0062	1	302	0.0033	21	c.107 others(40): Show c.1077-2212_1077-2192dupAAAAAAAAAAAAAAAAAAAAA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04228.hp1 HG02615.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0119 a0001c0001t0001g0038 a0001c0001t0001g0119	2	184	0.0109	21	c.597 others(38): Show c.597-2176_597-2156dupAAAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHISA6_chr17_11236213_11569063	11237575	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02056.hp2 HG03492.hp1 others(3): Show HG00738.hp1 HG02056.hp2 HG03492.hp1 NA18747.hp1 NA18747.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0033	a0001c0001t0001g0060 a0001c0001t0002g0019 a0001c0001t0002g0061 others(3): Show a0001c0001t0001g0060 a0001c0001t0002g0019 a0001c0001t0002g0061 a0001c0001t0004g0187 a0001c0001t0014g0147 a0001c0001t0033g0173	6	192	0.0313	21	c.-38 others(32): Show c.-3848_-3847insGAAGAAGAAGAAGAAGAAGAA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3637		chr17	TogoVar
SHISA9_chr16_12896598_13245416	13200440	A A	ACACACAC others(14): Show ACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0186 a0001c0002t0082g0186	1	214	0.0047	21	c.692 others(38): Show c.692-2952_692-2951insCACACACACACACACACAGCA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13200442	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0118 a0001c0001t0055g0118	1	214	0.0047	21	c.692 others(38): Show c.692-2952_692-2951insCACACACACACACACACACAC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0265 a0001c0265	a0001c0265t0003 a0001c0265t0003	a0001c0265t0003g0150 a0001c0265t0003g0150	1	380	0.0026	21	c.80 others(32): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44290529	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0349 a0001c0349	a0001c0349t0017 a0001c0349t0017	a0001c0349t0017g0034 a0001c0349t0017g0034	1	380	0.0026	21	c.282 others(38): Show c.282-4785_282-4784insTTTTTTTTTTTTTTTTTTTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	328	0.0031	21	c.178 others(38): Show c.178+2882_178+2902dupTTTTTTTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	406	0.0025	21	c.-12 others(40): Show c.-121+2031_-121+2051dupAAAAAAAAAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHMT2_chr12_57224711_57239935	57229183	A A	ATGTTCAC others(14): Show ATGTTCACAGGAAAAGCCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0003 a0005c0007t0001g0003	1	396	0.0025	21	c.-59 others(30): Show c.-596_-595insTGTTCACAGGAAAAGCCTCAT	SHMT2	ENSG00000182199.11	transcript	ENST00000328923.8	protein_coding		527		chr12	TogoVar
SHOX_chrX_625791_656584	636970	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0119 a0001c0001t0091g0119	1	220	0.0046	21	c.486 others(38): Show c.486+2145_486+2146insATATATATATATATATATATT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPK_chr17_3603240_3641250	3635240	A A	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01109.hp2 others(38): Show HG00423.hp1 HG00621.hp1 HG01109.hp2 HG01243.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02015.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp2 HG03041.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19088.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0008 a0001c0001 a0002c0002 a0013c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0030 a0002c0002t0001 a0002c0002t0002 a0013c0008t0002	a0001c0001t0001g0008 a0001c0001t0001g0120 a0001c0001t0001g0122 others(36): Show a0001c0001t0001g0008 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0144 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0148 a0001c0001t0004g0142 a0001c0001t0010g0130 a0001c0001t0015g0132 a0001c0001t0015g0155 a0001c0001t0023g0121 a0001c0001t0030g0141 a0002c0002t0001g0125 a0002c0002t0002g0009 a0002c0002t0002g0135 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0156 a0013c0008t0002g0149	41	382	0.1073	21	c.168 others(36): Show c.168+811_168+812insCTTCCTTCCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9816580	C C	CCTGCTGC others(14): Show CCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02523.hp2 others(5): Show HG02155.hp1 HG02155.hp2 HG02523.hp2 HG03209.hp1 NA18942.hp1 NA18943.hp1 NA19010.hp2 NA19058.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0034	a0001c0001 a0001c0003 a0002c0005 others(2): Show a0001c0001 a0001c0003 a0002c0005 a0015c0079 a0034c0066	a0001c0001t0001 a0001c0001t0016 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0018 a0001c0003t0001 a0002c0005t0002 a0015c0079t0003 a0034c0066t0003	a0001c0001t0001g0081 a0001c0001t0016g0148 a0001c0001t0018g0098 others(5): Show a0001c0001t0001g0081 a0001c0001t0016g0148 a0001c0001t0018g0098 a0001c0003t0001g0091 a0002c0005t0002g0042 a0002c0005t0002g0055 a0015c0079t0003g0174 a0034c0066t0003g0103	8	256	0.0313	21	c.165 others(40): Show c.165+29882_165+29902dupGCTGCTGCTGCTGCTGCTGCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0194 a0002c0019t0006g0194	1	256	0.0039	21	c.317 others(38): Show c.317+1287_317+1307dupAAAAAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9897680	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03486.hp1 others(2): Show HG03130.hp1 HG03139.hp1 HG03486.hp1 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0005 a0002c0035 a0004c0015 a0002c0005 a0002c0035 a0004c0015	a0002c0005t0002 a0002c0005t0003 a0002c0005t0005 others(2): Show a0002c0005t0002 a0002c0005t0003 a0002c0005t0005 a0002c0035t0006 a0004c0015t0002	a0002c0005t0002g0147 a0002c0005t0003g0127 a0002c0005t0005g0118 others(2): Show a0002c0005t0002g0147 a0002c0005t0003g0127 a0002c0005t0005g0118 a0002c0035t0006g0013 a0004c0015t0002g0226	5	256	0.0195	21	c.279 others(38): Show c.2791-490_2791-489insAAAAAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0209	1	218	0.0046	21	c.588 others(38): Show c.588-2892_588-2891insATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618426	T T	TCCTTCCT others(14): Show TCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02074.hp1 NA18994.hp1 others(2): Show HG00408.hp2 HG02074.hp1 NA18994.hp1 NA19012.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0152 a0004c0003t0001g0011	5	175	0.0286	21	c.295 others(40): Show c.2957+9187_2957+9188insGAAGGAAGGAAGGAAGGAAGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50801261	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02809.hp2 HG01099.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0001 a0001c0001t0017 a0002c0002t0001	a0001c0001t0017g0174 a0002c0002t0001g0151 a0001c0001t0017g0174 a0002c0002t0001g0151	2	175	0.0114	21	c.117 others(40): Show c.117+12640_117+12641insTCTCTCTCTCTCTCTCTCTCT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIAH1_chr16_48355531_48390413	48380928	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01123.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG01123.hp2 HG03492.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 others(1): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0006g0020	5	256	0.0195	21	c.-3+ others(36): Show c.-3+4275_-3+4276insTTTTTTTTTTTTTTTTTTTTT	SIAH1	ENSG00000196470.12	transcript	ENST00000394725.3	protein_coding	1/1			chr16	TogoVar
SIAH3_chr13_45772242_45856753	45822520	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0143 a0001c0001t0017g0143	1	364	0.0028	21	c.135 others(40): Show c.135+28974_135+28975insATATATATATATATATATATA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIDT1_chr3_113527555_113634575	113571512	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01433.hp1 HG00609.hp1 HG01433.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0013 a0001c0002 a0007c0013	a0001c0002t0001 a0007c0013t0001 a0001c0002t0001 a0007c0013t0001	a0001c0002t0001g0081 a0007c0013t0001g0082 a0001c0002t0001g0081 a0007c0013t0001g0082	2	318	0.0063	21	c.515 others(38): Show c.515+3802_515+3803insCACACACACACACACACACAC	SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding	3/24			chr3	TogoVar
SIGLEC10_chr19_51405020_51422642	51405400	C C	CTTTTCTT others(14): Show CTTTTCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0006 a0017c0020t0006	a0017c0020t0006g0067 a0017c0020t0006g0067	1	420	0.0024	21	c.56 others(32): Show c.5698_*5699insAAAAAAAAAAAAAAAAGAAAA	SIGLEC10	ENSG00000142512.15	transcript	ENST00000339313.10	protein_coding		4619		chr19	TogoVar
SIGLEC11_chr19_49943985_49966172	49947394	A A	AGCTGCAG others(14): Show AGCTGCAGTGAGCTGCAGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA18522.hp1 NA19030.hp2 HG02572.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0095	3	452	0.0066	21	c.25 others(32): Show c.2575_*2576insGGCACTGCAGCTCACTGCAGC	SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding		1590		chr19	TogoVar
SIGLEC1_chr20_3681970_3717600	3690824	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0117 a0003c0014t0001g0117	1	428	0.0023	21	c.459 others(38): Show c.4591+515_4591+516insAAAAAAAAAAAAAAAAAAAAA	SIGLEC1	ENSG00000088827.14	transcript	ENST00000344754.6	protein_coding	18/21			chr20	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01106.hp2 HG01255.hp1 others(7): Show HG00438.hp2 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG02258.hp2 HG03195.hp1 HG03516.hp2 NA18960.hp1 NA18970.hp1 NA18974.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0018	a0001c0002 a0002c0003 a0008c0025 others(1): Show a0001c0002 a0002c0003 a0008c0025 a0018c0023	a0001c0002t0003 a0002c0003t0008 a0008c0025t0003 others(1): Show a0001c0002t0003 a0002c0003t0008 a0008c0025t0003 a0018c0023t0003	a0001c0002t0003g0003 a0001c0002t0003g0004 a0001c0002t0003g0024 others(7): Show a0001c0002t0003g0003 a0001c0002t0003g0004 a0001c0002t0003g0024 a0001c0002t0003g0265 a0001c0002t0003g0267 a0001c0002t0003g0296 a0001c0002t0003g0304 a0002c0003t0008g0337 a0008c0025t0003g0302 a0018c0023t0003g0289	10	366	0.0273	21	c.30 others(32): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917823	G G	GGAAGGAA others(14): Show GGAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01346.hp2 others(4): Show HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG03239.hp1 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0151 a0002c0004t0006g0155 a0002c0004t0006g0158 others(4): Show a0002c0004t0006g0151 a0002c0004t0006g0155 a0002c0004t0006g0158 a0002c0004t0006g0159 a0002c0004t0006g0160 a0002c0004t0006g0162 a0002c0004t0006g0165	7	366	0.0191	21	c.616 others(38): Show c.616+9395_616+9396insTCCTTTCCTTTCCTTTCCTTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAAGGAA others(14): Show GAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03579.hp1 HG00642.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0282 a0001c0013t0002g0280 a0001c0001t0002g0282 a0001c0013t0002g0280	2	366	0.0055	21	c.616 others(38): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCCTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965758	T T	TGGTGAAA others(14): Show TGGTGAAAACCCGTCTCTGCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp2 others(45): Show HG00099.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02109.hp2 HG02148.hp1 HG02280.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18953.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp2 NA19074.hp1 NA19081.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0014	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0006 a0007c0027 a0014c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 a0002c0003t0001 a0002c0003t0007 a0002c0003t0008 a0002c0003t0009 a0002c0003t0025 a0003c0005t0005 a0004c0006t0008 a0007c0027t0008 a0014c0019t0007	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 others(45): Show a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0360 a0001c0001t0004g0313 a0001c0002t0005g0312 a0001c0002t0005g0339 a0001c0002t0005g0345 a0001c0002t0005g0350 a0002c0003t0001g0338 a0002c0003t0001g0341 a0002c0003t0001g0342 a0002c0003t0007g0310 a0002c0003t0007g0311 a0002c0003t0007g0314 a0002c0003t0007g0319 a0002c0003t0007g0320 a0002c0003t0007g0325 a0002c0003t0007g0326 a0002c0003t0007g0327 a0002c0003t0007g0328 a0002c0003t0007g0329 a0002c0003t0007g0334 a0002c0003t0007g0335 a0002c0003t0007g0336 a0002c0003t0007g0352 a0002c0003t0007g0354 a0002c0003t0007g0358 a0002c0003t0008g0337 a0002c0003t0008g0353 a0002c0003t0008g0355 a0002c0003t0009g0309 a0002c0003t0009g0318 a0002c0003t0009g0321 a0002c0003t0009g0323 a0002c0003t0009g0324 a0002c0003t0009g0359 a0002c0003t0025g0322 a0003c0005t0005g0351 a0004c0006t0008g0344 a0004c0006t0008g0346 a0004c0006t0008g0347 a0004c0006t0008g0348 a0004c0006t0008g0349 a0004c0006t0008g0361 a0007c0027t0008g0340 a0014c0019t0007g0317	48	366	0.1312	21	c.274 others(38): Show c.274-8695_274-8694insTAGCAGAGACGGGTTTTCACC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013915	G G	GAGGGGGT others(14): Show GAGGGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	366	0.0027	21	c.274 others(40): Show c.274-56852_274-56851insACACACACACACACACCCCCT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0019 a0019	a0019c0010 a0019c0010	a0019c0010t0001 a0019c0010t0001	a0019c0010t0001g0198 a0019c0010t0001g0198	1	366	0.0027	21	c.274 others(40): Show c.274-64885_274-64865dupTTTTTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0158 a0002c0004t0006g0159 a0002c0004t0006g0158 a0002c0004t0006g0159	2	366	0.0055	21	c.274 others(40): Show c.274-66558_274-66557insATATATATATATATATATATA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139057314	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0185 a0002c0003t0001g0160 a0001c0002t0001g0185 a0002c0003t0001g0160	2	200	0.0100	21	c.245 others(38): Show c.245-6269_245-6268insTTTTTTTTTTTTTTTTTTTTA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02080.hp2 HG03225.hp1 others(13): Show HG01070.hp2 HG02080.hp2 HG03225.hp1 HG03710.hp2 HG03942.hp1 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18999.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0050 a0001c0002t0002 a0001c0002t0046 a0001c0016t0006 a0002c0003t0003	a0001c0001t0002g0117 a0001c0001t0004g0065 a0001c0001t0004g0236 others(13): Show a0001c0001t0002g0117 a0001c0001t0004g0065 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0242 a0001c0001t0004g0248 a0001c0001t0004g0312 a0001c0001t0004g0392 a0001c0001t0005g0157 a0001c0001t0008g0181 a0001c0001t0050g0166 a0001c0002t0002g0095 a0001c0002t0002g0101 a0001c0002t0046g0333 a0001c0016t0006g0153 a0002c0003t0003g0083	16	410	0.0390	21	c.851 others(38): Show c.851-3755_851-3735dupAAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71356567	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01928.hp2 HG01361.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0061 a0001c0001t0002g0013 a0001c0001t0002g0061	2	174	0.0115	21	c.-46 others(42): Show c.-465+35406_-465+35407insAAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71502255	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	174	0.0058	21	c.-46 others(42): Show c.-464-10487_-464-10486insATATATATATATATATATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	174	0.0058	21	c.31 others(32): Show c.3192_*3193insAAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232631983	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG02896.hp1 HG03139.hp1 HG01168.hp2 HG02896.hp1 HG03139.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0003 a0005c0009 a0008c0014 a0001c0003 a0005c0009 a0008c0014	a0001c0003t0010 a0005c0009t0008 a0008c0014t0013 a0001c0003t0010 a0005c0009t0008 a0008c0014t0013	a0001c0003t0010g0282 a0005c0009t0008g0283 a0008c0014t0013g0279 a0001c0003t0010g0282 a0005c0009t0008g0283 a0008c0014t0013g0279	3	292	0.0103	21	c.-24 others(32): Show c.-2434_-2433insTTTTTTTTTTTTTTTTTTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding		1851		chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp1 HG02155.hp2 others(9): Show HG01952.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp2 NA18947.hp2 NA18950.hp1 NA19085.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0022	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0033 a0002c0002 a0005c0011 a0022c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0003t0001 a0001c0006t0010 a0001c0033t0005 a0002c0002t0003 a0002c0002t0008 a0005c0011t0004 a0022c0024t0002	a0001c0001t0001g0113 a0001c0001t0004g0060 a0001c0001t0004g0104 others(9): Show a0001c0001t0001g0113 a0001c0001t0004g0060 a0001c0001t0004g0104 a0001c0001t0012g0103 a0001c0003t0001g0092 a0001c0006t0010g0084 a0001c0033t0005g0131 a0002c0002t0003g0065 a0002c0002t0003g0106 a0002c0002t0008g0082 a0005c0011t0004g0102 a0022c0024t0002g0119	12	164	0.0732	21	c.-37 others(42): Show c.-379+30386_-379+30406dupAAAAAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CCAGCAGC others(14): Show CCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18979.hp2 NA18961.hp1 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	2	414	0.0048	21	c.-13 others(32): Show c.-1381_-1361dupCTGCTGCTGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SKAP1_chr17_48128442_48435214	48204973	T T	TTTTCTTT others(14): Show TTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01081.hp1 others(24): Show HG00099.hp2 HG00423.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02074.hp1 HG02129.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp2 NA19070.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0061 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0260 a0001c0001t0001g0286 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220	27	292	0.0925	21	c.281 others(40): Show c.281-15474_281-15473insGAAAGAAAGAAAGAAAAGAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48224053	G G	GAGGAGGA others(14): Show GAGGAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp1 HG01952.hp2 others(10): Show HG00558.hp2 HG01255.hp1 HG01952.hp2 HG02056.hp2 HG02602.hp1 HG03017.hp2 HG03831.hp2 HG03942.hp2 NA18942.hp1 NA19011.hp2 NA19068.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 others(10): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0194	13	292	0.0445	21	c.281 others(40): Show c.281-34554_281-34553insTCTCCTCCTCCTCCTCCTCCT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18966.hp1 HG02040.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0152 a0001c0001t0001g0094 a0001c0001t0001g0152	2	296	0.0068	21	c.796 others(38): Show c.796+7898_796+7918dupTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKIC3_chr5_95458894_95559977	95490399	T T	TATATATA others(14): Show TATATATATATACATTATTTAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0012 a0001c0015t0012	a0001c0015t0012g0029 a0001c0015t0012g0029	1	352	0.0028	21	c.393 others(38): Show c.3931+488_3931+508dupTTAAATAATGTATATATATAT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	37/42			chr5	TogoVar
SKIL_chr3_170352715_170401835	170357309	T T	TGCACCGC others(14): Show TGCACCGCAGACAGCGCCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0066 a0010c0013t0066	a0010c0013t0066g0137 a0010c0013t0066g0137	1	362	0.0028	21	c.-10 others(32): Show c.-1088_-1087insGCACCGCAGACAGCGCCGCGC	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		405		chr3	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18964.hp2 NA19081.hp2 NA18953.hp2 NA18964.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0045 a0002c0002t0006 a0002c0002t0045	a0002c0002t0006g0316 a0002c0002t0006g0317 a0002c0002t0045g0266 a0002c0002t0006g0316 a0002c0002t0006g0317 a0002c0002t0045g0266	3	362	0.0083	21	c.109 others(40): Show c.1098+4324_1098+4344dupTTTTTTTTTTTTTTTTTTTTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SKI_chr1_2223319_2315213	2227747	T T	TGGCCGAG others(14): Show TGGCCGAGCGTAGCCGAGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	330	0.0061	21	c.-10 others(32): Show c.-1020_-1019insGGCCGAGCGTAGCCGAGTCCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding		571		chr1	TogoVar
SKOR1_chr15_67820509_67839582	67831903	C C	CCGGGGGG others(14): Show CCGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	428	0.0023	21	c.258 others(38): Show c.2588-371_2588-370insCGGGGGGGGGGGGGGGGGGGG	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding	5/8			chr15	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02109.hp2 HG00099.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0233 a0001c0001t0003g0234	2	344	0.0058	21	c.267 others(36): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)