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
GCNT3_chr15_59606783_59627723	59610960	T T	TCCCCTCC others(31): Show TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0004 a0001c0001t0087g0004	1	428	0.0023	38	c.-12 others(49): Show c.-1272_-1271insCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		822		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0085 a0002c0004t0002g0085	1	354	0.0028	38	c.21 others(49): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATAGATA others(31): Show GATAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0228 a0001c0001t0008g0228	1	312	0.0032	38	c.212 others(55): Show c.212+3261_212+3262insGATATATATATATATATATATATATATA TATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG03041.hp2 others(3): Show HG02886.hp2 HG02965.hp2 HG03041.hp2 NA18984.hp1 NA19030.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0249 a0001c0001t0001g0278 a0001c0001t0001g0293 others(3): Show a0001c0001t0001g0249 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0004g0300 a0001c0001t0007g0238 a0001c0001t0013g0241	6	312	0.0192	38	c.212 others(55): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF5_chr20_35428347_35443228	35442020	T T	TTGTAGAG others(31): Show TTGTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0024 a0002c0002t0007g0024	1	360	0.0028	38	c.-41 others(49): Show c.-4130_-4093dupGACCAGCCTGGGCAACATGGTGAGACCCTGTCTC TACA	GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding		3793		chr20	TogoVar
GET4_chr7_871554_901436	889899	G G	GGGTCTGG others(31): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0256 a0001c0004t0002g0256	1	384	0.0026	38	c.467 others(55): Show c.467-1027_467-1026insTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGACGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889939	G G	GGGTCTGG others(31): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02486.hp1 others(1): Show HG01891.hp1 HG02451.hp2 HG02486.hp1 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0040 a0001c0006t0002 a0001c0005t0040 a0001c0006t0002	a0001c0005t0040g0265 a0001c0006t0002g0267 a0001c0006t0002g0289 others(1): Show a0001c0005t0040g0265 a0001c0006t0002g0267 a0001c0006t0002g0289 a0001c0006t0002g0290	4	384	0.0104	38	c.467 others(53): Show c.467-987_467-986insTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0290 a0001c0003t0002g0290	1	412	0.0024	38	c.41 others(49): Show c.4105_*4106insATATATATATATATATATATATTTTTTTTTTTTT TTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116148056	A A	ATGTGTGC others(31): Show ATGTGTGCATGTGCGTGTGTGCATGCATGTGTGCATGCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00642.hp2 others(30): Show HG00423.hp1 HG00438.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG03139.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18989.hp2 NA19009.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19087.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0004 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0029 a0001c0001t0060 a0001c0001t0066 a0001c0001t0071 a0001c0001t0095 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0001t0111 a0001c0001t0114 a0001c0001t0124 a0001c0001t0125 a0001c0001t0130 a0001c0001t0132 a0001c0002t0118 a0001c0002t0123 a0001c0013t0005 a0002c0003t0004 a0002c0003t0006 a0002c0003t0011 a0002c0003t0077 a0002c0003t0108 a0002c0004t0031 a0005c0009t0086 a0006c0011t0004	a0001c0001t0001g0077 a0001c0001t0004g0079 a0001c0001t0008g0020 others(30): Show a0001c0001t0001g0077 a0001c0001t0004g0079 a0001c0001t0008g0020 a0001c0001t0008g0035 a0001c0001t0013g0143 a0001c0001t0015g0184 a0001c0001t0025g0119 a0001c0001t0029g0083 a0001c0001t0029g0121 a0001c0001t0060g0144 a0001c0001t0066g0192 a0001c0001t0071g0010 a0001c0001t0095g0120 a0001c0001t0099g0071 a0001c0001t0100g0122 a0001c0001t0103g0104 a0001c0001t0111g0114 a0001c0001t0114g0095 a0001c0001t0124g0115 a0001c0001t0125g0105 a0001c0001t0130g0086 a0001c0001t0132g0094 a0001c0002t0118g0055 a0001c0002t0123g0050 a0001c0013t0005g0062 a0002c0003t0004g0082 a0002c0003t0006g0103 a0002c0003t0011g0178 a0002c0003t0077g0018 a0002c0003t0108g0072 a0002c0004t0031g0087 a0005c0009t0086g0005 a0006c0011t0004g0127	33	214	0.1542	38	c.434 others(57): Show c.434-22500_434-22499insCGCATGCACACATGCATGCACACACG CACATGCACACA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116148056	A A	ATGTGTGC others(31): Show ATGTGTGCATGTGCGTGTGTGCATGCATGTGTGCATGTG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0211 a0001c0001t0017g0211	1	214	0.0047	38	c.434 others(57): Show c.434-22500_434-22499insCACATGCACACATGCATGCACACACG CACATGCACACA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694042	G G	GATATATA others(31): Show GATATATATATATATTTATTTATTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	322	0.0031	38	c.127 others(55): Show c.1272+421_1272+422insATATATATATATATAAATAAATAAATAT ATATATATAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02109.hp2 NA18950.hp1 HG02083.hp1 HG02109.hp2 NA18950.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0013 a0002c0002 a0005c0013	a0002c0002t0002 a0002c0002t0003 a0005c0013t0003 a0002c0002t0002 a0002c0002t0003 a0005c0013t0003	a0002c0002t0002g0169 a0002c0002t0003g0259 a0005c0013t0003g0201 a0002c0002t0002g0169 a0002c0002t0003g0259 a0005c0013t0003g0201	3	322	0.0093	38	c.127 others(55): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0133 a0003c0003t0002g0133	1	386	0.0026	38	c.953 others(55): Show c.953-4004_953-4003insAATATATATATATATATATATATATATA TATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0054 a0001c0001t0037g0054	1	254	0.0039	38	c.16 others(47): Show c.165_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01257.hp1 HG02015.hp2 others(3): Show HG00423.hp2 HG01257.hp1 HG02015.hp2 HG02523.hp1 NA18940.hp2 NA18967.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0004c0004t0011 a0004c0004t0012 others(2): Show a0003c0003t0003 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0030	a0003c0003t0003g0010 a0004c0004t0011g0001 a0004c0004t0011g0002 others(3): Show a0003c0003t0003g0010 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0012g0009 a0004c0004t0016g0027 a0004c0004t0030g0149	6	210	0.0286	38	c.70+ others(55): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIMAP8_chr7_150445630_150484393	150452575	G G	GTATGTAT others(31): Show GTATGTATATATGTATATATATGTATATATGTATGTATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG01891.hp1 others(13): Show HG00735.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA21309.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0003 a0003c0014 others(2): Show a0001c0001 a0001c0003 a0003c0014 a0003c0020 a0011c0027	a0001c0001t0013 a0001c0003t0003 a0003c0014t0002 others(2): Show a0001c0001t0013 a0001c0003t0003 a0003c0014t0002 a0003c0020t0006 a0011c0027t0003	a0001c0001t0013g0223 a0001c0003t0003g0022 a0001c0003t0003g0023 others(8): Show a0001c0001t0013g0223 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0045 a0001c0003t0003g0218 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0003t0003g0221 a0003c0014t0002g0222 a0003c0020t0006g0224 a0011c0027t0003g0217	16	372	0.0430	38	c.-29 others(55): Show c.-29+1414_-29+1451dupATATATATGTATATATGTATGTATATAT GTATATATGT	GIMAP8	ENSG00000171115.4	transcript	ENST00000307271.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTCTTTC others(31): Show CTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0125 a0001c0001t0016g0125	1	460	0.0022	38	c.41 others(49): Show c.4102_*4103insAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GJB7_chr6_87277980_87334278	87332320	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0151 a0006c0007t0001g0151	1	382	0.0026	38	c.-33 others(49): Show c.-3389_-3388insATATATATATATATATATATATATATATATATAT ATAT	GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding		3043		chr6	TogoVar
GKAP1_chr9_83734425_83822769	83779586	C C	CATGTATA others(31): Show CATGTATATGTGTATATATATACACATATACACACACAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	336	0.0060	38	c.585 others(53): Show c.585+795_585+796insATGTGTGTGTATATGTGTATATATATACAC ATATACAT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	286	0.0035	38	c.851 others(55): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT ATATATATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(31): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	318	0.0031	38	c.194 others(53): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1_chr3_32991617_33102146	33001162	T T	TTCTCCTC others(31): Show TTCTCCTCTCCTCTTCTCCTTCTCCTTCTTCTCTTCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0369 a0008c0018t0001g0369	1	394	0.0025	38	c.173 others(57): Show c.1735-3856_1735-3819dupGGAGAAGAGAAGAAGGAGAAGGAGAA GAGGAGAGGAGA	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	15/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp1 others(4): Show HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0002g0045	7	394	0.0178	38	c.76- others(53): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(31): Show ATATATATATATATGTATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18982.hp2 NA18942.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0097 a0001c0001t0001g0106	2	342	0.0059	38	c.335 others(55): Show c.335-9639_335-9638insAAAAAATATATATATATATATATACATA TATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	342	0.0029	38	c.182 others(57): Show c.1827+1189_1827+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0300 a0001c0001t0033g0300	1	342	0.0029	38	c.775 others(55): Show c.775-1805_775-1804insTATATATATATATATATATATATATATA TATATATATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74540001	A A	ATATTATA others(31): Show ATATTATATATATATTATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0304 a0001c0001t0040g0304	1	342	0.0029	38	c.439 others(55): Show c.439-7849_439-7848insATATATATATATAATATATATATAATAT ATATATAATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLIPR1L1_chr12_75329670_75375560	75358826	A A	AATATATA others(31): Show AATATATAACAATATATAATATATTATATATGTTTAAAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	370	0.0027	38	c.522 others(55): Show c.522-4245_522-4244insTTTAAATATATATAACAATATATAATAT ATTATATATG	GLIPR1L1	ENSG00000173401.10	transcript	ENST00000378695.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLIS2_chr16_4311067_4344595	4344272	C C	CCGTGAGA others(31): Show CCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02280.hp2 others(15): Show HG01099.hp2 HG01891.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0003 a0007c0021 a0001c0002 a0002c0003 a0007c0021	a0001c0002t0026 a0002c0003t0001 a0002c0003t0006 others(3): Show a0001c0002t0026 a0002c0003t0001 a0002c0003t0006 a0002c0003t0007 a0002c0003t0016 a0007c0021t0006	a0001c0002t0026g0092 a0002c0003t0001g0015 a0002c0003t0001g0016 others(13): Show a0001c0002t0026g0092 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0045 a0002c0003t0001g0095 a0002c0003t0001g0145 a0002c0003t0001g0158 a0002c0003t0001g0169 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0006g0086 a0002c0003t0006g0305 a0002c0003t0007g0121 a0002c0003t0016g0085 a0002c0003t0016g0119 a0007c0021t0006g0179	18	395	0.0456	38	c.67 others(49): Show c.6748_*6749insCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGT TCTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4678		chr16	TogoVar
GLIS2_chr16_4311067_4344595	4344329	C C	CGTGAGAG others(31): Show CGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01081.hp1 NA19010.hp2 HG00738.hp2 HG01081.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0002t0001g0167 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0002t0001g0167	3	395	0.0076	38	c.68 others(49): Show c.6805_*6806insGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTT CTGT	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4735		chr16	TogoVar
GLIS2_chr16_4311067_4344595	4344356	A A	AGAGGGGG others(31): Show AGAGGGGGTTCTGTGTGAGAGGAGGGGGTTCTGTGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	395	0.0025	38	c.68 others(49): Show c.6832_*6833insGAGGGGGTTCTGTGTGAGAGGAGGGGGTTCTGTG AGAG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4762		chr16	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(31): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA19064.hp2 HG02258.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	38	c.-96 others(47): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTCTCTATATATATATAT AT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLRA1_chr5_151817513_151929851	151849454	T T	TCCTTTCC others(31): Show TCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18747.hp1 NA18956.hp2 HG00642.hp1 NA18747.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0002g0227 a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0002g0227	3	284	0.0106	38	c.912 others(55): Show c.912+1935_912+1936insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGAAAGG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTCC others(31): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01952.hp2 HG01981.hp1 others(14): Show HG01433.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02148.hp2 HG02615.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0182 a0001c0007t0001g0150	17	284	0.0599	38	c.912 others(55): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLT1D1_chr12_128848478_128989968	128874124	C C	CTCCCTTT others(31): Show CTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0163 a0002c0003t0003g0163	1	320	0.0031	38	c.69- others(53): Show c.69-1788_69-1787insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04199.hp1 HG02015.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0282 a0001c0002t0001g0135 a0001c0001t0001g0282 a0001c0002t0001g0135	2	320	0.0063	38	c.781 others(55): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971615	C C	CCCCTCCC others(31): Show CCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02572.hp1 HG02647.hp1 others(6): Show HG00642.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0007 a0005c0009	a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0002t0007 a0001c0008t0011 a0001c0008t0020 a0002c0003t0007 a0002c0007t0005 a0005c0009t0007	a0001c0001t0002g0060 a0001c0001t0007g0261 a0001c0002t0002g0038 others(6): Show a0001c0001t0002g0060 a0001c0001t0007g0261 a0001c0002t0002g0038 a0001c0002t0007g0057 a0001c0008t0011g0021 a0001c0008t0020g0160 a0002c0003t0007g0044 a0002c0007t0005g0212 a0005c0009t0007g0079	9	320	0.0281	38	c.880 others(57): Show c.880-11277_880-11276insTCCCTCCCTCCTCCCTTCCCCCCTCC CTCCTCCCTTCC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0000 a0010c0010t0002g0000	1	452	0.0022	38	c.-17 others(47): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	166	0.0060	38	c.346 others(57): Show c.346-52960_346-52959insATATATATATATATATATATATATAT ATATATATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GNA12_chr7_2723105_2849308	2763191	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	322	0.0031	38	c.526 others(57): Show c.526-29728_526-29691dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	336	0.0030	38	c.-95 others(57): Show c.-95-25077_-95-25076insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52117089	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0160 a0001c0001t0114g0160	1	366	0.0027	38	c.56 others(49): Show c.5667_*5668insATATATATATATATATATATATATATATATATAT ATAT	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5667		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0338 a0001c0001t0170g0338	1	366	0.0027	38	c.56 others(49): Show c.5654_*5655insAATATATATATATATATATATATATATATATATA TATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0194 a0001c0001t0194	a0001c0001t0194g0336 a0001c0001t0194g0336	1	366	0.0027	38	c.56 others(49): Show c.5654_*5655insAAAATATATATATATATATATATATATATATATA TATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0117 a0001c0001t0084g0117	1	366	0.0027	38	c.56 others(49): Show c.5654_*5655insAAAAAAAATATATATATATATATATATATATATA TATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNE_chr9_36209441_36263448	36255061	A A	ATGGCCAG others(31): Show ATGGCCAGCTTGCTCTCAGTTTAGGTAGAATAACCTTTG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	374	0.0027	38	c.-43 others(55): Show c.-43+3222_-43+3259dupCAAAGGTTATTCTACCTAAACTGAGAGC AAGCTGGCCA	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	1/11			chr9	TogoVar
GNG12_chr1_67696475_67838467	67837987	A A	AAAAAGAA others(31): Show AAAAAGAATAAGAAAAAACAAAAAATAAAAAACAAAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	274	0.0037	38	c.-47 others(49): Show c.-4721_-4720insGCTTTTGTTTTTTATTTTTTGTTTTTTCTTATTC TTTT	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding		4521		chr1	TogoVar
GNG13_chr16_793041_805734	793980	G G	GTGTCCCG others(31): Show GTGTCCCGGGGAGACGGGTGGGGGCTGCCTGTGCTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	38	c.47 others(49): Show c.4738_*4739insTAAAAGCACAGGCAGCCCCCACCCGTCTCCCCGG GACA	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		4060		chr16	TogoVar
GNG4_chr1_235542685_235654784	235650265	G G	GGGGGGTC others(31): Show GGGGGGTCTGGGGGACCGAGCCGTGGGGGAATCACTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01192.hp2 others(2): Show HG00735.hp2 HG01175.hp2 HG01192.hp2 HG02145.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0015 a0001c0002t0003 others(1): Show a0001c0001t0010 a0001c0001t0015 a0001c0002t0003 a0001c0002t0009	a0001c0001t0010g0139 a0001c0001t0015g0199 a0001c0002t0003g0207 others(2): Show a0001c0001t0010g0139 a0001c0001t0015g0199 a0001c0002t0003g0207 a0001c0002t0009g0113 a0001c0002t0009g0231	5	330	0.0152	38	c.-72 others(47): Show c.-727_-726insTCCAGTGATTCCCCCACGGCTCGGTCCCCCAGACCC CC	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding		482		chr1	TogoVar
GNG4_chr1_235542685_235654784	235650272	T T	TGGGGGAC others(31): Show TGGGGGACCGAGCCGTGGGGGAATCACTGGAGGGGTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0318 a0001c0001t0083g0318	1	330	0.0030	38	c.-73 others(47): Show c.-734_-733insCAGACCCCTCCAGTGATTCCCCCACGGCTCGGTCCC CC	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding		489		chr1	TogoVar

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Search Results (Total: 5880 hits)