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
DHRS13_chr17_28892781_28908079	28903702	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG03540.hp1 HG02723.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	3	412	0.0073	28	c.-75 others(37): Show c.-759_-758insAAGGGAAGGAAGGAAGGAAGGAAGGAAG	DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding		624		chr17	TogoVar
DHRS3_chr1_12562910_12623210	12611934	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18747.hp1 HG02056.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0044 a0001c0001t0022g0218 a0001c0001t0003g0044 a0001c0001t0022g0218	2	376	0.0053	28	c.195 others(45): Show c.195+5219_195+5220insATTTATTTATTTATTTATTTATTTATTT	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/5			chr1	TogoVar
DHRS4_chr14_23948770_23974279	23973254	C C	CAGAGGTC others(21): Show CAGAGGTCCCTGTAGCTTTCCACAGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0032 a0001c0003t0008g0032	1	267	0.0038	28	c.43 others(39): Show c.4383_*4384insAGAGGTCCCTGTAGCTTTCCACAGTACA	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding		3976		chr14	TogoVar
DHRS7C_chr17_9766438_9796592	9768850	C C	CTTATTTA others(21): Show CTTATTTATTTATTTATTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG01517.hp1 others(8): Show HG01074.hp2 HG01515.hp2 HG01517.hp1 HG03831.hp1 NA18944.hp2 NA18962.hp2 NA18970.hp2 NA18988.hp2 NA18999.hp2 NA19011.hp2 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0001c0001t0001 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0139 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0139 a0001c0001t0001g0257 a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0122 a0002c0002t0001g0245 a0003c0006t0001g0066	11	424	0.0259	28	c.26 others(39): Show c.2637_*2638insATAAATAAATAAATAAATAAATAAATAA	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding		2587		chr17	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	398	0.0025	28	c.-59 others(45): Show c.-59-1537_-59-1536insGAGAGAGAAAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2225569	C C	CCTTGATC others(21): Show CCTTGATCTTAGACCTCCAGCCTCCAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	50	0.0200	28	c.805 others(45): Show c.805-4368_805-4341dupTCCTGGAGGCTGGAGGTCTAAGATCAAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314483	A A	AAGGGGAG others(21): Show AAGGGGAGAAGGAAGGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18943.hp1 NA18952.hp2 HG01496.hp2 NA18943.hp1 NA18952.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0014 a0001c0001t0001 a0008c0010t0014	a0001c0001t0001g0021 a0001c0001t0001g0023 a0008c0010t0014g0046 a0001c0001t0001g0021 a0001c0001t0001g0023 a0008c0010t0014g0046	3	50	0.0600	28	c.287 others(47): Show c.287-22881_287-22880insCCCTTCCTTCCTCCCTTCCTTCTCCC CT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2495648	C C	CCCTCCTT others(21): Show CCCTCCTTCCTCCTTCCTCCTTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	50	0.0200	28	c.109 others(45): Show c.109+5168_109+5169insAAGGAGGAAGGAGGAAGGAGGAAGGAGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	374	0.0027	28	c.108 others(47): Show c.1081-1100_1081-1073dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX37_chr12_124941826_124994131	124961264	A A	ACATACAC others(21): Show ACATACACGCGTGCACGCACACACACACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01261.hp2 others(16): Show HG00423.hp2 HG00609.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02148.hp1 HG02293.hp1 NA18972.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19068.hp2 NA19074.hp2	a0003 a0004 a0013 others(1): Show a0003 a0004 a0013 a0024	a0003c0007 a0004c0028 a0013c0031 others(1): Show a0003c0007 a0004c0028 a0013c0031 a0024c0055	a0003c0007t0001 a0004c0028t0001 a0013c0031t0001 others(1): Show a0003c0007t0001 a0004c0028t0001 a0013c0031t0001 a0024c0055t0001	a0003c0007t0001g0008 a0003c0007t0001g0163 a0003c0007t0001g0166 others(15): Show a0003c0007t0001g0008 a0003c0007t0001g0163 a0003c0007t0001g0166 a0003c0007t0001g0168 a0003c0007t0001g0173 a0003c0007t0001g0195 a0003c0007t0001g0202 a0003c0007t0001g0203 a0003c0007t0001g0235 a0003c0007t0001g0251 a0003c0007t0001g0252 a0003c0007t0001g0256 a0003c0007t0001g0258 a0004c0028t0001g0081 a0004c0028t0001g0335 a0013c0031t0001g0215 a0013c0031t0001g0242 a0024c0055t0001g0261	19	370	0.0514	28	c.204 others(45): Show c.2046-842_2046-841insAGTGTGTGTGTGCGTGCACGCGTGTATG	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02559.hp1 HG02976.hp1 others(4): Show HG01934.hp2 HG02559.hp1 HG02976.hp1 HG03579.hp1 HG03834.hp2 NA18955.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0004c0006t0001	a0001c0001t0001g0312 a0001c0001t0002g0009 a0001c0001t0002g0128 others(4): Show a0001c0001t0001g0312 a0001c0001t0002g0009 a0001c0001t0002g0128 a0001c0001t0002g0144 a0001c0001t0002g0159 a0001c0002t0003g0157 a0004c0006t0001g0116	7	336	0.0208	28	c.118 others(45): Show c.118-3473_118-3446dupATATATATATATATATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(21): Show ATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	336	0.0030	28	c.118 others(45): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	147	0.0068	28	c.132 others(45): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185467	A A	ATATATAT others(21): Show ATATATATGTGTATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	147	0.0068	28	c.271 others(49): Show c.2719+43677_2719+43678insTATGTGTATATATATATGTGTGTG TATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59756448	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	208	0.0048	28	c.331 others(49): Show c.3319+17740_3319+17741insTTTCCTTCCTTCCTTCCTTCCTTC CTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01993.hp2 HG02602.hp1 others(1): Show HG01071.hp1 HG01993.hp2 HG02602.hp1 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0008 a0001c0001 a0002c0004 a0003c0008	a0001c0001t0001 a0002c0004t0001 a0003c0008t0001 a0001c0001t0001 a0002c0004t0001 a0003c0008t0001	a0001c0001t0001g0188 a0002c0004t0001g0051 a0002c0004t0001g0057 others(1): Show a0001c0001t0001g0188 a0002c0004t0001g0051 a0002c0004t0001g0057 a0003c0008t0001g0194	4	208	0.0192	28	c.331 others(49): Show c.3319+12109_3319+12136dupAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(21): Show ATTATTATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	208	0.0048	28	c.316 others(47): Show c.3163+8120_3163+8121insAAAAAAAAAAAAAAAAAAAAAATAAT AA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(21): Show CACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	208	0.0048	28	c.180 others(45): Show c.180+6668_180+6669insATATATATATATATATATATATATATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG01109.hp2 others(25): Show HG00323.hp2 HG00544.hp1 HG01109.hp2 HG01167.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02683.hp1 HG02683.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18968.hp2 NA18973.hp1 NA18978.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp2 NA20805.hp1	a0001 a0003 a0025 others(1): Show a0001 a0003 a0025 a0032	a0001c0001 a0001c0022 a0001c0036 others(4): Show a0001c0001 a0001c0022 a0001c0036 a0003c0003 a0003c0006 a0025c0039 a0032c0060	a0001c0001t0001 a0001c0001t0007 a0001c0022t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0022t0001 a0001c0036t0001 a0003c0003t0001 a0003c0006t0001 a0025c0039t0002 a0032c0060t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0007g0030 a0001c0022t0001g0091 a0001c0036t0001g0042 a0003c0003t0001g0023 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0241 a0003c0006t0001g0252 a0025c0039t0002g0261 a0032c0060t0001g0111	28	320	0.0875	28	c.-34 others(39): Show c.-3455_-3454insTATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929695	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0204 a0002c0002t0015g0204	1	320	0.0031	28	c.-34 others(39): Show c.-3457_-3456insTATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3191		chr20	TogoVar
DIMT1_chr5_62382254_62408905	62388552	C C	CATGTGAA others(21): Show CATGTGAATAACAAGAAATGGTACGGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0047 a0001c0002t0012g0047	1	404	0.0025	28	c.43 others(37): Show c.430_*457dupTCCCCGTACCATTTCTTGTTATTCACAT	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	12/12	457		chr5	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	404	0.0025	28	c.447 others(45): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02055.hp1 others(5): Show HG00438.hp1 HG00597.hp2 HG02055.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0005t0008 a0001c0005t0017 others(1): Show a0001c0001t0002 a0001c0005t0008 a0001c0005t0017 a0001c0007t0005	a0001c0001t0002g0020 a0001c0005t0008g0007 a0001c0005t0008g0009 others(5): Show a0001c0001t0002g0020 a0001c0005t0008g0007 a0001c0005t0008g0009 a0001c0005t0008g0011 a0001c0005t0008g0013 a0001c0005t0017g0008 a0001c0005t0017g0010 a0001c0007t0005g0126	8	374	0.0214	28	c.92- others(43): Show c.92-7189_92-7188insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(21): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01243.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01243.hp2 HG01361.hp2 HG02523.hp1 HG02818.hp1 HG02976.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 NA18949.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0007 a0001c0022 others(1): Show a0001c0006 a0001c0007 a0001c0022 a0003c0017	a0001c0006t0004 a0001c0006t0007 a0001c0007t0005 others(2): Show a0001c0006t0004 a0001c0006t0007 a0001c0007t0005 a0001c0022t0001 a0003c0017t0001	a0001c0006t0004g0125 a0001c0006t0007g0135 a0001c0006t0007g0173 others(9): Show a0001c0006t0004g0125 a0001c0006t0007g0135 a0001c0006t0007g0173 a0001c0006t0007g0177 a0001c0007t0005g0132 a0001c0007t0005g0151 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0007t0005g0159 a0001c0022t0001g0160 a0001c0022t0001g0176 a0003c0017t0001g0131	12	374	0.0321	28	c.92- others(43): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTTTGT others(21): Show TTTTTTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0009 a0003c0018t0009	a0003c0018t0009g0162 a0003c0018t0009g0162	1	374	0.0027	28	c.92- others(43): Show c.92-7213_92-7212insTTTTGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0154 a0001c0007t0005g0154	1	374	0.0027	28	c.284 others(45): Show c.284-1736_284-1709dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46503571	T T	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19074.hp1 HG02257.hp1 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0018 a0001c0006t0012 a0001c0005t0018 a0001c0006t0012	a0001c0005t0018g0314 a0001c0006t0012g0152 a0001c0005t0018g0314 a0001c0006t0012g0152	2	374	0.0054	28	c.656 others(43): Show c.656-774_656-747dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01074.hp2 others(8): Show HG00140.hp2 HG00741.hp2 HG01074.hp2 HG01256.hp1 HG02040.hp1 HG02602.hp2 HG02683.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0005 a0001c0001 a0001c0008 a0002c0005	a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 others(7): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0008t0008 a0002c0005t0006	a0001c0001t0010g0089 a0001c0001t0011g0097 a0001c0001t0012g0086 others(8): Show a0001c0001t0010g0089 a0001c0001t0011g0097 a0001c0001t0012g0086 a0001c0001t0015g0088 a0001c0001t0016g0084 a0001c0001t0020g0081 a0001c0001t0026g0083 a0001c0001t0028g0095 a0001c0008t0008g0259 a0002c0005t0006g0107 a0002c0005t0006g0110	11	284	0.0387	28	c.-39 others(39): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2C_chr10_269201_694668	358725	G G	GTGGGAGG others(21): Show GTGGGAGGTGGGGGACGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	28	c.279 others(45): Show c.2795-789_2795-788insTCCCCCGTCCCCCGTCCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	358773	G G	GTGGGAGG others(21): Show GTGGGAGGTGGGGGACGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01934.hp1 others(9): Show HG00609.hp1 HG00621.hp1 HG01934.hp1 HG01952.hp1 HG02040.hp2 HG02602.hp1 HG02922.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0020	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0011t0003 a0001c0020t0008	a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 others(9): Show a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0082 a0001c0011t0003g0088 a0001c0020t0008g0074	12	88	0.1364	28	c.279 others(45): Show c.2795-837_2795-836insTCCCCCGTCCCCCGTCCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	472227	A A	AGTAGCCA others(21): Show AGTAGCCAACATGGGCTTGTAAACCACGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	88	0.0114	28	c.268 others(43): Show c.268+184_268+211dupACGTGGTTTACAAGCCCATGTTGGCTAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608642	C C	CCCACACA others(21): Show CCCACACACACACACATCCCCCCCACACA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	88	0.0114	28	c.85+ others(45): Show c.85+80851_85+80852insTGTGTGGGGGGGATGTGTGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	619541	G G	GCCCGCCC others(21): Show GCCCGCCCGCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	28	c.85+ others(45): Show c.85+69952_85+69953insAGGGAGGGAGGGAGGGAGGGCGGGCGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	28	c.85+ others(45): Show c.85+14704_85+14705insCTCTCTCTCTCTCTATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0014 a0001c0019t0006g0014	1	88	0.0114	28	c.85+ others(45): Show c.85+14704_85+14705insCTCTCTCTCTATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	28	c.85+ others(45): Show c.85+14704_85+14705insCTCTCTCTATATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(21): Show TATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02071.hp1 HG02004.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0028 a0001c0008t0001g0018 a0001c0001t0001g0028 a0001c0008t0001g0018	2	88	0.0227	28	c.85+ others(45): Show c.85+14704_85+14705insCTCTATATATATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846860	T T	TACACGTA others(21): Show TACACGTATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	200	0.0050	28	c.474 others(43): Show c.474+322_474+323insGTATATATATGTATATATATATACGTGT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1C_chr18_74429775_74462308	74458603	G G	GGGGTTTG others(21): Show GGGGTTTGGGTGTCACTCAATCAACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(444): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0016 a0017 a0018 a0019	a0001c0001 a0001c0005 a0001c0017 others(23): Show a0001c0001 a0001c0005 a0001c0017 a0001c0026 a0002c0002 a0002c0006 a0002c0011 a0002c0014 a0002c0018 a0002c0021 a0002c0029 a0003c0003 a0003c0007 a0004c0004 a0005c0008 a0006c0010 a0007c0009 a0008c0012 a0009c0013 a0010c0016 a0012c0027 a0014c0020 a0016c0023 a0017c0024 a0018c0028 a0019c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(58): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0005t0003 a0001c0017t0009 a0001c0026t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0015 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0023 a0002c0002t0030 a0002c0002t0031 a0002c0006t0002 a0002c0011t0010 a0002c0014t0002 a0002c0014t0022 a0002c0018t0032 a0002c0021t0010 a0002c0029t0002 a0003c0003t0001 a0003c0003t0003 a0003c0007t0003 a0004c0004t0004 a0005c0008t0005 a0005c0008t0008 a0006c0010t0001 a0007c0009t0003 a0007c0009t0027 a0008c0012t0002 a0008c0012t0007 a0009c0013t0001 a0010c0016t0001 a0012c0027t0017 a0014c0020t0015 a0016c0023t0002 a0017c0024t0002 a0018c0028t0003 a0019c0019t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(345): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0363 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0030 a0001c0001t0003g0048 a0001c0001t0003g0055 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0142 a0001c0001t0003g0147 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0003g0171 a0001c0001t0003g0175 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0219 a0001c0001t0003g0249 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0268 a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0326 a0001c0001t0003g0335 a0001c0001t0003g0348 a0001c0001t0003g0356 a0001c0001t0003g0361 a0001c0001t0004g0006 a0001c0001t0004g0074 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0136 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0256 a0001c0001t0004g0266 a0001c0001t0004g0274 a0001c0001t0004g0312 a0001c0001t0004g0344 a0001c0001t0006g0035 a0001c0001t0006g0093 a0001c0001t0006g0100 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0192 a0001c0001t0006g0195 a0001c0001t0006g0221 a0001c0001t0006g0340 a0001c0001t0007g0341 a0001c0001t0009g0058 a0001c0001t0009g0373 a0001c0001t0009g0374 a0001c0001t0009g0378 a0001c0001t0010g0020 a0001c0001t0011g0092 a0001c0001t0011g0099 a0001c0001t0011g0130 a0001c0001t0011g0227 a0001c0001t0013g0060 a0001c0001t0013g0061 a0001c0001t0014g0358 a0001c0001t0016g0042 a0001c0001t0018g0059 a0001c0001t0024g0094 a0001c0001t0025g0144 a0001c0001t0026g0258 a0001c0001t0028g0140 a0001c0001t0029g0379 a0001c0001t0033g0377 a0001c0001t0034g0381 a0001c0005t0003g0145 a0001c0005t0003g0146 a0001c0005t0003g0226 a0001c0005t0003g0259 a0001c0005t0003g0315 a0001c0017t0009g0375 a0001c0017t0009g0380 a0001c0026t0001g0346 a0002c0002t0002g0001 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0031 a0002c0002t0002g0044 a0002c0002t0002g0050 a0002c0002t0002g0078 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0141 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0188 a0002c0002t0002g0194 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0269 a0002c0002t0002g0273 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0282 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0290 a0002c0002t0002g0292 a0002c0002t0002g0296 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0309 a0002c0002t0002g0313 a0002c0002t0002g0320 a0002c0002t0002g0337 a0002c0002t0002g0339 a0002c0002t0002g0360 a0002c0002t0002g0362 a0002c0002t0002g0364 a0002c0002t0002g0370 a0002c0002t0005g0038 a0002c0002t0005g0041 a0002c0002t0005g0071 a0002c0002t0005g0072 a0002c0002t0005g0087 a0002c0002t0005g0202 a0002c0002t0005g0216 a0002c0002t0005g0242 a0002c0002t0005g0336 a0002c0002t0005g0357 a0002c0002t0006g0316 a0002c0002t0007g0073 a0002c0002t0007g0075 a0002c0002t0007g0115 a0002c0002t0007g0229 a0002c0002t0007g0334 a0002c0002t0008g0014 a0002c0002t0008g0350 a0002c0002t0012g0016 a0002c0002t0015g0079 a0002c0002t0019g0301 a0002c0002t0020g0287 a0002c0002t0021g0095 a0002c0002t0023g0180 a0002c0002t0030g0376 a0002c0002t0031g0372 a0002c0006t0002g0040 a0002c0006t0002g0205 a0002c0006t0002g0240 a0002c0006t0002g0367 a0002c0011t0010g0053 a0002c0011t0010g0352 a0002c0014t0002g0213 a0002c0014t0022g0211 a0002c0018t0032g0371 a0002c0021t0010g0338 a0002c0029t0002g0224 a0003c0003t0001g0009 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0190 a0003c0003t0001g0234 a0003c0003t0001g0238 a0003c0003t0001g0325 a0003c0003t0001g0329 a0003c0003t0001g0332 a0003c0003t0003g0039 a0003c0003t0003g0052 a0003c0003t0003g0054 a0003c0003t0003g0076 a0003c0003t0003g0150 a0003c0003t0003g0196 a0003c0003t0003g0232 a0003c0003t0003g0237 a0003c0003t0003g0327 a0003c0003t0003g0330 a0003c0007t0003g0010 a0003c0007t0003g0328 a0004c0004t0004g0085 a0004c0004t0004g0086 a0004c0004t0004g0111 a0004c0004t0004g0333 a0004c0004t0004g0351 a0005c0008t0005g0342 a0005c0008t0008g0012 a0006c0010t0001g0023 a0006c0010t0001g0168 a0007c0009t0003g0091 a0007c0009t0003g0105 a0007c0009t0027g0214 a0008c0012t0002g0181 a0008c0012t0002g0217 a0008c0012t0007g0103 a0009c0013t0001g0062 a0009c0013t0001g0063 a0010c0016t0001g0034 a0012c0027t0017g0126 a0014c0020t0015g0169 a0016c0023t0002g0185 a0017c0024t0002g0157 a0018c0028t0003g0151 a0019c0019t0002g0365	447	484	0.9236	28	c.-13 others(39): Show c.-1345_-1344insTGCTGTTGATTGAGTGACACCCAAACCC	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding		1296		chr18	TogoVar
DIPK2A_chr3_143966823_143997368	143976555	T T	TGTGTGAG others(21): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0257 a0001c0006t0007g0257	1	408	0.0025	28	c.657 others(45): Show c.657+3567_657+3568insTGTGAGAGAGAGAGAGAGAGAGAGAGAG	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978602	C C	CTATCTAT others(21): Show CTATCTATATATATATATCTATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0074 a0001c0001t0014g0074	1	408	0.0025	28	c.657 others(45): Show c.657+5616_657+5617insCTATATATATATATCTATATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIS3L2_chr2_231956713_232342192	232086615	A A	ATATATAT others(21): Show ATATATATATATATACACATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02717.hp2 others(3): Show HG02257.hp2 HG02258.hp2 HG02717.hp2 HG02723.hp2 HG03098.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0013 others(2): Show a0001c0001 a0001c0009 a0001c0013 a0002c0004 a0002c0011	a0001c0001t0001 a0001c0009t0002 a0001c0013t0002 others(2): Show a0001c0001t0001 a0001c0009t0002 a0001c0013t0002 a0002c0004t0001 a0002c0011t0001	a0001c0001t0001g0200 a0001c0009t0002g0192 a0001c0013t0002g0143 others(3): Show a0001c0001t0001g0200 a0001c0009t0002g0192 a0001c0013t0002g0143 a0002c0004t0001g0187 a0002c0004t0001g0210 a0002c0011t0001g0198	6	304	0.0197	28	c.367 others(43): Show c.367-845_367-844insGTATATATATATATACACATATATATAT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333263	G G	GCCTCCTC others(21): Show GCCTCCTCCTCCTCCTCCTCCGCTGTCGC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	304	0.0033	28	c.201 others(45): Show c.2011-561_2011-560insCTCCGCTGTCGCCCTCCTCCTCCTCCTC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DISP1_chr1_222810039_223010995	222936577	A A	ATCATATA others(21): Show ATCATATATATGAGAGATATATATATCTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	348	0.0029	28	c.-17 others(45): Show c.-17-6207_-17-6206insATCTCTCATATATATGAGAGATATATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936906	A A	AATATATT others(21): Show AATATATTATATATTATATAATATGTAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp2 others(8): Show HG00280.hp1 HG00639.hp1 HG00733.hp2 HG01168.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG02145.hp1 HG03225.hp2 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008 a0003c0015 a0003c0044	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0003c0008t0001 a0003c0015t0001 a0003c0044t0001	a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0002t0001g0185 others(8): Show a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0002t0001g0185 a0001c0006t0001g0162 a0003c0008t0001g0264 a0003c0008t0001g0265 a0003c0008t0001g0266 a0003c0008t0001g0268 a0003c0015t0001g0167 a0003c0015t0001g0168 a0003c0044t0001g0217	11	348	0.0316	28	c.-17 others(45): Show c.-17-5885_-17-5858dupTATAATATGTAATATATATTATATATTA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19091.hp2 HG02055.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0252 a0002c0003t0001g0060 a0001c0002t0001g0252 a0002c0003t0001g0060	2	348	0.0058	28	c.510 others(47): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03516.hp1 HG03195.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0003 a0001c0003t0027g0003	3	396	0.0076	28	c.36 others(39): Show c.3697_*3698insAAAAAAAAAAAAAAAAAATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01891.hp2 HG02559.hp2 others(8): Show HG00642.hp2 HG01891.hp2 HG02559.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 NA19043.hp1	a0001 a0020 a0001 a0020	a0001c0003 a0020c0042 a0001c0003 a0020c0042	a0001c0003t0007 a0001c0003t0087 a0020c0042t0007 a0001c0003t0007 a0001c0003t0087 a0020c0042t0007	a0001c0003t0007g0003 a0001c0003t0007g0012 a0001c0003t0087g0003 others(1): Show a0001c0003t0007g0003 a0001c0003t0007g0012 a0001c0003t0087g0003 a0020c0042t0007g0003	11	396	0.0278	28	c.36 others(39): Show c.3697_*3698insAAAAAAAAAAAAAAAATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02055.hp2 HG02630.hp1 others(2): Show HG01496.hp2 HG02055.hp2 HG02630.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0169 a0001c0003t0019 a0001c0003t0169	a0001c0003t0019g0003 a0001c0003t0169g0013 a0001c0003t0019g0003 a0001c0003t0169g0013	5	396	0.0126	28	c.36 others(39): Show c.3697_*3698insAAAAAAAAAAAAAATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DIXDC1_chr11_111932343_112027653	111950438	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	278	0.0036	28	c.60+ others(45): Show c.60+12880_60+12881insATATATATATATATATATATTTTTTTTT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)