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
GCNT2_chr6_10516351_10634368	10582303	T T	TTAATATA others(29): Show TTAATATATAGTAATATTAAATATAATATATACTATA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	324	0.0031	36	c.926 others(55): Show c.926-39011_926-38976dupTAATATATAGTAATATTAAATATAAT ATATACTATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(29): Show CCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG03098.hp2 others(6): Show HG02155.hp2 HG02280.hp1 HG03098.hp2 NA18955.hp2 NA18965.hp2 NA18973.hp2 NA18983.hp2 NA18993.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0115 a0001c0001t0001g0126 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0002g0175 a0001c0001t0002g0248 a0001c0001t0004g0268 a0001c0002t0001g0285	9	344	0.0262	36	c.919 others(55): Show c.919+11897_919+11932dupACACACACACACACACACACACACAC ACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582231	T T	TTTAAATA others(29): Show TTTAAATATATAAAATATATATAATATATACTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	344	0.0029	36	c.919 others(55): Show c.919+24903_919+24938dupATATATATAATATATACTATATATTA AATATATAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582303	T T	TTAATATA others(29): Show TTAATATATAGTAATATTAAATATAATATATACTATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	344	0.0029	36	c.919 others(55): Show c.919+24998_919+25033dupTAATATATAGTAATATTAAATATAAT ATATACTATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610225	T T	GCCTTCCT others(29): Show GCCTTCCTTCACTCCTTCCTTCACTCCTTCCTTCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	428	0.0023	36	c.-20 others(47): Show c.-2008_-2007insGCCTTCCTTCACTCCTTCCTTCACTCCTTCCTTC AC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1558		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610563	T T	TTCCTTCC others(29): Show TTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	36	c.-16 others(47): Show c.-1669_-1668insTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTC CC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1219		chr15	TogoVar
GDAP1L1_chr20_44242308_44285947	44276355	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	392	0.0026	36	c.761 others(53): Show c.761-2572_761-2571insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02559.hp2 others(1): Show HG01884.hp2 HG01952.hp1 HG02559.hp2 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0002c0002t0008	a0001c0001t0001g0262 a0001c0001t0002g0240 a0001c0001t0014g0069 others(1): Show a0001c0001t0001g0262 a0001c0001t0002g0240 a0001c0001t0014g0069 a0002c0002t0008g0292	4	312	0.0128	36	c.212 others(53): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GEN1_chr2_17749138_17793946	17753324	T T	TGGGGACG others(29): Show TGGGGACGGCCGCCTGGGAGGGGACGGCCGCCTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00642.hp2 others(37): Show HG00280.hp2 HG00323.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp1 NA18747.hp1 NA18955.hp1 NA19043.hp2 NA19057.hp1 NA19067.hp1 NA19077.hp2 NA19240.hp2	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0009 a0010	a0002c0002 a0003c0003 a0008c0008 others(2): Show a0002c0002 a0003c0003 a0008c0008 a0009c0009 a0010c0010	a0002c0002t0002 a0002c0002t0022 a0002c0002t0042 others(7): Show a0002c0002t0002 a0002c0002t0022 a0002c0002t0042 a0002c0002t0045 a0003c0003t0024 a0008c0008t0002 a0008c0008t0016 a0008c0008t0041 a0009c0009t0021 a0010c0010t0002	a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 others(29): Show a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0026 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0048 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0022g0031 a0002c0002t0042g0032 a0002c0002t0045g0084 a0003c0003t0024g0116 a0008c0008t0002g0101 a0008c0008t0016g0033 a0008c0008t0041g0045 a0009c0009t0021g0022 a0010c0010t0002g0028 a0010c0010t0002g0093 a0010c0010t0002g0096	40	318	0.1258	36	c.-10 others(47): Show c.-1037_-1036insGGGGACGGCCGCCTGGGAGGGGACGGCCGCCTGG GA	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding		813		chr2	TogoVar
GET4_chr7_871554_901436	890220	T T	TCTGGGAG others(29): Show TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0049 a0001c0017t0002g0049	1	384	0.0026	36	c.467 others(51): Show c.467-679_467-678insCAGGGGCCTGGGAGTGGAGGGAGCGCGAGC GGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFOD1_chr6_13352830_13492600	13390780	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0089 a0001c0001t0013g0089	1	230	0.0044	36	c.254 others(55): Show c.254-25154_254-25119dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0228 a0001c0001t0141g0228	1	230	0.0044	36	c.254 others(55): Show c.254-43462_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0316 a0001c0003t0002g0316	1	412	0.0024	36	c.41 others(47): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTTTT TT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18993.hp1 NA18940.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0015 a0001c0003t0002g0016	2	412	0.0049	36	c.41 others(47): Show c.4105_*4106insATATATATATATATATATATATTTTTTTTTTTTT TT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	412	0.0024	36	c.41 others(47): Show c.4105_*4106insATATATATATATATATATATATATTTTTTTTTTT TT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116117565	A A	ATGGATGG others(29): Show ATGGATGGATGGATGGGTGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp2 HG02145.hp1 others(9): Show HG01346.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0038 a0001c0001t0047 a0001c0001t0051 a0001c0001t0074 a0001c0001t0114 a0001c0005t0046 a0003c0006t0093	a0001c0001t0001g0041 a0001c0001t0003g0204 a0001c0001t0031g0134 others(9): Show a0001c0001t0001g0041 a0001c0001t0003g0204 a0001c0001t0031g0134 a0001c0001t0032g0085 a0001c0001t0033g0092 a0001c0001t0038g0151 a0001c0001t0047g0169 a0001c0001t0051g0203 a0001c0001t0074g0161 a0001c0001t0114g0095 a0001c0005t0046g0174 a0003c0006t0093g0045	12	214	0.0561	36	c.770 others(53): Show c.770+7655_770+7656insCCCACCCACCCACCCACCCACCCATCCA TCCATCCA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116148082	G G	GTGTGTGC others(29): Show GTGTGTGCATGCATGTGTGCATGCGTGTGTGCATGCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0044 a0001c0002t0033g0044	1	214	0.0047	36	c.434 others(55): Show c.434-22526_434-22525insTGCATGCACACACGCATGCACACATG CATGCACACA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116148082	G G	GTGTGTGC others(29): Show GTGTGTGCATGCGTGTGTGCATGCGTGTGTGCATGCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp1 HG02135.hp2 others(1): Show HG01261.hp1 HG01361.hp1 HG02135.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0079 a0001c0002t0081 a0002c0004t0006 others(1): Show a0001c0002t0079 a0001c0002t0081 a0002c0004t0006 a0002c0004t0028	a0001c0002t0079g0014 a0001c0002t0081g0012 a0002c0004t0006g0070 others(1): Show a0001c0002t0079g0014 a0001c0002t0081g0012 a0002c0004t0006g0070 a0002c0004t0028g0099	4	214	0.0187	36	c.434 others(55): Show c.434-22526_434-22525insTGCATGCACACACGCATGCACACACG CATGCACACA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	322	0.0031	36	c.127 others(53): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01884.hp2 others(13): Show HG00099.hp1 HG00438.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02809.hp2 HG03490.hp1 HG04228.hp1 NA18966.hp2 NA18983.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0007 a0002c0002 a0002c0005 a0002c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(4): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0017 a0002c0005t0002 a0002c0007t0002 a0002c0007t0003	a0002c0002t0002g0037 a0002c0002t0002g0078 a0002c0002t0002g0081 others(13): Show a0002c0002t0002g0037 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0125 a0002c0002t0002g0133 a0002c0002t0002g0151 a0002c0002t0002g0162 a0002c0002t0003g0261 a0002c0002t0003g0282 a0002c0002t0003g0299 a0002c0002t0008g0220 a0002c0002t0017g0107 a0002c0005t0002g0045 a0002c0005t0002g0055 a0002c0007t0002g0157 a0002c0007t0003g0237	16	322	0.0497	36	c.127 others(53): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATTTAT others(29): Show TTATTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02976.hp1 HG01081.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0106 a0002c0002t0002g0034 a0002c0002t0002g0106	2	322	0.0062	36	c.127 others(53): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATAAATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55402146	T T	TTTTTTGT others(29): Show TTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG03516.hp1 HG02258.hp1 HG02717.hp2 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0211 a0004c0004t0005g0212 a0004c0004t0005g0213 a0004c0004t0005g0211 a0004c0004t0005g0212 a0004c0004t0005g0213	3	386	0.0078	36	c.29 others(45): Show c.296_*331dupTTTGTATTTTTAGTAGAGATGGGGTTTTGCCAAATT	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	9/9	332	INFO_REALIGN_3_PRIME	chr6	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG02145.hp1 HG00621.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0070 a0002c0003t0038 a0002c0002t0070 a0002c0003t0038	a0002c0002t0070g0193 a0002c0003t0038g0064 a0002c0002t0070g0193 a0002c0003t0038g0064	2	254	0.0079	36	c.16 others(45): Show c.167_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	357	0.0028	36	c.642 others(53): Show c.642-2334_642-2333insATATATATATATATATATATATATTTTT TTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	357	0.0028	36	c.642 others(53): Show c.642-2334_642-2333insATATATATATATATATATATATTTTTTT TTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0193 a0001c0002t0003g0193	1	357	0.0028	36	c.642 others(53): Show c.642-2334_642-2333insATATATATATATATATATATTTTTTTTT TTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT1_chr22_24598193_24633996	24605023	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG02258.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0272 a0002c0002t0007g0017 a0002c0002t0001g0272 a0002c0002t0007g0017	2	426	0.0047	36	c.-42 others(55): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATATATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG03209.hp1 HG02280.hp1 HG02922.hp1 HG03209.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0002 a0004c0005t0001 a0004c0005t0002	a0004c0005t0001g0160 a0004c0005t0002g0170 a0004c0005t0002g0185 a0004c0005t0001g0160 a0004c0005t0002g0170 a0004c0005t0002g0185	3	422	0.0071	36	c.58- others(49): Show c.58-191_58-190insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0177 a0003c0003t0002g0177	1	422	0.0024	36	c.58- others(49): Show c.58-191_58-190insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(29): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02622.hp1 HG02738.hp1 others(1): Show HG01934.hp1 HG02622.hp1 HG02738.hp1 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0010 a0004c0005 a0004c0010	a0004c0005t0001 a0004c0005t0002 a0004c0010t0001 a0004c0005t0001 a0004c0005t0002 a0004c0010t0001	a0004c0005t0001g0149 a0004c0005t0001g0210 a0004c0005t0002g0184 others(1): Show a0004c0005t0001g0149 a0004c0005t0001g0210 a0004c0005t0002g0184 a0004c0010t0001g0211	4	422	0.0095	36	c.58- others(49): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0196 a0009c0017t0001g0196	1	422	0.0024	36	c.58- others(49): Show c.58-168_58-167insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCC	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03017.hp1 HG01517.hp2 HG03017.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0017 a0001c0001t0002 a0004c0004t0017	a0001c0001t0002g0016 a0004c0004t0017g0015 a0001c0001t0002g0016 a0004c0004t0017g0015	2	210	0.0095	36	c.-12 others(55): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp1 others(1): Show HG00438.hp1 HG00609.hp1 HG00621.hp1 NA18943.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0007c0011	a0002c0002t0001 a0003c0003t0003 a0004c0004t0033 others(1): Show a0002c0002t0001 a0003c0003t0003 a0004c0004t0033 a0007c0011t0001	a0002c0002t0001g0026 a0003c0003t0003g0022 a0004c0004t0033g0006 others(1): Show a0002c0002t0001g0026 a0003c0003t0003g0022 a0004c0004t0033g0006 a0007c0011t0001g0005	4	210	0.0191	36	c.-12 others(55): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42534058	A A	ATATATAT others(29): Show ATATATATGTACGTATGTATATATGTATATATGTAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02145.hp1 others(6): Show HG01261.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0002c0002 a0003c0006 others(2): Show a0001c0001 a0002c0002 a0003c0006 a0006c0010 a0008c0009	a0001c0001t0005 a0002c0002t0001 a0002c0002t0006 others(3): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0006 a0003c0006t0009 a0006c0010t0019 a0008c0009t0006	a0001c0001t0005g0082 a0002c0002t0001g0128 a0002c0002t0001g0138 others(6): Show a0001c0001t0005g0082 a0002c0002t0001g0128 a0002c0002t0001g0138 a0002c0002t0006g0047 a0002c0002t0006g0049 a0003c0006t0009g0048 a0006c0010t0019g0102 a0006c0010t0019g0132 a0008c0009t0006g0081	9	210	0.0429	36	c.-11 others(55): Show c.-11-31778_-11-31743dupATATGTAAGTATATATGTACGTATGT ATATATGTAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02083.hp2 NA18943.hp1 others(1): Show HG00621.hp2 HG02083.hp2 NA18943.hp1 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0032 a0004c0004t0033 a0004c0004t0012 a0004c0004t0032 a0004c0004t0033	a0004c0004t0012g0007 a0004c0004t0012g0130 a0004c0004t0032g0004 others(1): Show a0004c0004t0012g0007 a0004c0004t0012g0130 a0004c0004t0032g0004 a0004c0004t0033g0006	4	210	0.0191	36	c.70+ others(53): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42615344	T T	TTCTAAAC others(29): Show TTCTAAACATTTTAGCTCTTAGGAGCCTCTGATGACA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	210	0.0048	36	c.71- others(53): Show c.71-13690_71-13655dupAAACATTTTAGCTCTTAGGAGCCTCTGA TGACATCT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIMD1_chr4_106352392_106373778	106365831	T T	TACAGGGC others(29): Show TACAGGGCTGTGTGGACTATTGTTAGTAATAGTCTAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0138 a0004c0005t0001g0138	1	452	0.0022	36	c.393 others(53): Show c.393+1176_393+1211dupGTAGACTATTACTAACAATAGTCCACAC AGCCCTGT	GIMD1	ENSG00000250298.6	transcript	ENST00000638719.4	protein_coding	2/2			chr4	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18951.hp1 NA19087.hp2 HG02145.hp1 NA18951.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0040 a0001c0001t0003 a0001c0001t0004 a0001c0001t0040	a0001c0001t0003g0134 a0001c0001t0004g0288 a0001c0001t0040g0289 a0001c0001t0003g0134 a0001c0001t0004g0288 a0001c0001t0040g0289	3	470	0.0064	36	c.205 others(53): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(29): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02129.hp2 NA19065.hp2 HG02129.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0379 a0001c0001t0029g0380 a0001c0001t0029g0379 a0001c0001t0029g0380	2	444	0.0045	36	c.-18 others(45): Show c.-180_-179insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	13066		chr19	TogoVar
GJA8_chr1_147897795_147914269	147899925	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	472	0.0021	36	c.-29 others(47): Show c.-2948_-2947insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG AA	GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding		2869		chr1	TogoVar
GJA8_chr1_147897795_147914269	147899928	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	472	0.0042	36	c.-29 others(47): Show c.-2945_-2944insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAA GG	GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding		2866		chr1	TogoVar
GJA9_chr1_38869069_38886587	38882334	A A	AAATATAT others(29): Show AAATATATATATATATATATATTTACATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG01433.hp1 HG00738.hp2 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0025 a0001c0003t0004g0025	3	444	0.0068	36	c.-99 others(45): Show c.-999_-998insAATATATATATGTAAATATATATATATATATATATT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		748		chr1	TogoVar
GKAP1_chr9_83734425_83822769	83779612	T T	TACACACA others(29): Show TACACACACATGTATATGTGTATATACACATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	336	0.0030	36	c.585 others(51): Show c.585+769_585+770insGTGTATATGTGTATATACACATATACATGT GTGTGT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(29): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG01243.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	464	0.0043	36	c.204 others(51): Show c.204+500_204+501insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02717.hp2 NA18971.hp2 others(2): Show HG02300.hp1 HG02717.hp2 NA18971.hp2 NA18972.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0022 a0001c0001t0001g0100	5	464	0.0108	36	c.204 others(51): Show c.204+500_204+501insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GK_chrX_30648423_30736462	30663964	T T	TATATATA others(29): Show TATATATATTTTATATATATCTATATATATTGTATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(83): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18966.hp1 NA18971.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp1 NA19086.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0278 a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0097 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0005g0022 a0001c0001t0005g0100 a0001c0001t0005g0203 a0001c0001t0008g0101 a0001c0001t0008g0165 a0001c0001t0015g0106 a0001c0001t0022g0040	86	286	0.3007	36	c.79- others(51): Show c.79-1517_79-1516insGTATAGATATATATTTTATATATATCTATA TATATT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30663964	T T	TATATATT others(29): Show TATATATTTTTTATATATATCTATATATATTGTATAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	286	0.0070	36	c.79- others(51): Show c.79-1541_79-1540insTTTTTATATATATCTATATATATTGTATAG ATATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30664108	G G	GATATATA others(29): Show GATATATATTTTATATATATCTATATATATTTTATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	286	0.0035	36	c.79- others(51): Show c.79-1387_79-1386insTATCTATATATATTTTATACATATATATTT TATATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02897.hp1 HG03540.hp2 others(1): Show HG02809.hp2 HG02897.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011	a0001c0001t0004g0174 a0001c0001t0005g0100 a0001c0001t0008g0165 others(1): Show a0001c0001t0004g0174 a0001c0001t0005g0100 a0001c0001t0008g0165 a0001c0001t0011g0181	4	286	0.0140	36	c.851 others(53): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT ATATATAT	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(29): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	318	0.0031	36	c.194 others(51): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar

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Search Results (Total: 8848 hits)