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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CT47C1_chrX_119067993_119081765	119073764	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG03942.hp1 HG03942.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0002 a0014c0017t0002	a0014c0017t0002g0002 a0014c0017t0002g0002	1	310	0.0032	1	c.544 others(4): Show c.544dupG	p.Ala others(5): Show p.Ala182fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	778/1772	545/975	182/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073769	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0001 a0015c0020t0001g0001	1	310	0.0032	1	c.546 others(4): Show c.546dupC	p.Ala others(5): Show p.Ala183fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	780/1772	547/975	183/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073803	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0001 a0015c0020t0001g0001	1	310	0.0032	1	c.580 others(4): Show c.580dupC	p.Gln others(5): Show p.Gln194fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	814/1772	581/975	194/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CT47C1_chrX_119067993_119081765	119074981	AAAAGTGG others(31): Show AAAAGTGGGATGAAGAGGCCCAAGATGCTGCAGGCAAGG	A A	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0001 a0012c0016t0001g0001	1	310	0.0032	-38	c.878 others(45): Show c.878_915delAGTGGGATGAAGAGGCCCAAGATGCTGCAGGCAAGGAA	p.Lys others(5): Show p.Lys293fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	2/3	1111/1772	878/975	293/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585230	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA19080.hp2 NA18985.hp1 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0001 a0002c0005t0001 a0002c0004t0001 a0002c0005t0001	a0002c0004t0001g0012 a0002c0005t0001g0026 a0002c0004t0001g0012 a0002c0005t0001g0026	2	293	0.0068	1	c.29d others(3): Show c.29dupG	p.Ser others(4): Show p.Ser11fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	104/769	30/543	10/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585252	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.47d others(3): Show c.47dupA	p.Asp others(4): Show p.Asp16fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	122/769	48/543	16/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585256	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0024 a0011c0008t0001g0024	1	293	0.0034	-1	c.53d others(3): Show c.53delC	p.Pro others(4): Show p.Pro18fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	127/769	53/543	18/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585263	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.59d others(3): Show c.59dupG	p.Gly others(4): Show p.Gly22fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	134/769	60/543	20/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585287	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0026 a0002c0005t0001g0026	1	293	0.0034	1	c.86d others(3): Show c.86dupG	p.Asn others(4): Show p.Asn30fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	161/769	87/543	29/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585316	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0016 a0010c0009t0001g0016	1	293	0.0034	1	c.113 others(4): Show c.113dupG	p.Ala others(4): Show p.Ala39fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	188/769	114/543	38/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585317	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0024 a0011c0008t0001g0024	1	293	0.0034	1	c.111 others(8): Show c.111_112insT	p.Gly others(4): Show p.Gly38fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	186/769	112/543	38/180		chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585342	C C	CCG CCG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	2	c.136 others(9): Show c.136_137insCG	p.Arg others(4): Show p.Arg46fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	211/769	137/543	46/180		chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585352	G G	GGT GGT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	2	c.147 others(9): Show c.147_148insTG	p.Ala others(4): Show p.Ala50fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	222/769	148/543	50/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585367	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18975.hp2 NA18975.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0030 a0004c0015t0001g0030	1	293	0.0034	1	c.165 others(4): Show c.165dupG	p.Pro others(4): Show p.Pro56fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	240/769	166/543	56/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585377	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.173 others(4): Show c.173dupG	p.Gly others(4): Show p.Gly59fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	248/769	174/543	58/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585384	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.182 others(4): Show c.182dupC	p.Arg others(4): Show p.Arg62fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	257/769	183/543	61/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585390	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18975.hp2 NA18975.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0030 a0004c0015t0001g0030	1	293	0.0034	1	c.188 others(4): Show c.188dupG	p.Pro others(4): Show p.Pro64fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	263/769	189/543	63/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585440	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.238 others(4): Show c.238dupG	p.Ala others(4): Show p.Ala80fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	313/769	239/543	80/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585447	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG03927.hp1 NA18985.hp1 HG03927.hp1 NA18985.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0014 a0002c0005 a0005c0014	a0002c0005t0001 a0005c0014t0001 a0002c0005t0001 a0005c0014t0001	a0002c0005t0001g0026 a0005c0014t0001g0019 a0002c0005t0001g0026 a0005c0014t0001g0019	2	293	0.0068	1	c.246 others(4): Show c.246dupG	p.Pro others(4): Show p.Pro83fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	321/769	247/543	83/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585463	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0032 a0009c0010t0001g0032	1	293	0.0034	1	c.259 others(4): Show c.259dupC	p.Leu others(4): Show p.Leu87fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	334/769	260/543	87/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154586219	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0026 a0002c0005t0001g0026	1	293	0.0034	1	c.341 others(4): Show c.341dupC	p.Pro others(5): Show p.Pro115fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	2/3	416/769	342/543	114/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154586253	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0024 a0011c0008t0001g0024	1	293	0.0034	-1	c.373 others(4): Show c.373delG	p.Glu others(5): Show p.Glu125fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	2/3	447/769	373/543	125/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154586267	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0026 a0002c0005t0001g0026	1	293	0.0034	1	c.387 others(4): Show c.387dupC	p.Gly others(5): Show p.Gly130fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	2/3	462/769	388/543	130/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154586563	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG02486.hp2 HG02622.hp1 HG02647.hp1 others(2): Show HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG03195.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0001 a0000c0002t0001g0001	5	293	0.0171	1	c.444 others(4): Show c.444dupC	p.Ile others(5): Show p.Ile149fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	3/3	519/769	445/543	149/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154586628	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0032 a0009c0010t0001g0032	1	293	0.0034	1	c.512 others(4): Show c.512dupT	p.Leu others(5): Show p.Leu171fs	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	3/3	587/769	513/543	171/180	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1B_chrX_154612609_154624282	154617859	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG02486.hp1 HG02622.hp1 HG02647.hp1 others(1): Show HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0001	a0000c0003t0001g0005 a0000c0003t0001g0005	4	254	0.0158	1	c.444 others(4): Show c.444dupC	p.Ile others(5): Show p.Ile149fs	CTAG1B	ENSG00000184033.14	transcript	ENST00000328435.3	protein_coding	3/3	508/759	444/543	148/180		chrX	TogoVar
CTAG1B_chrX_154612609_154624282	154619030	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0011 a0008c0006t0001g0011	1	254	0.0039	1	c.188 others(4): Show c.188dupG	p.Pro others(4): Show p.Pro64fs	CTAG1B	ENSG00000184033.14	transcript	ENST00000328435.3	protein_coding	1/3	252/759	188/543	63/180		chrX	TogoVar
CTAG1B_chrX_154612609_154624282	154619050	CCGGCCCC others(5225): Show CCGGCCCCGAGGCCCTTGCTGCCCCTGCGCCCCGGGGACCTCTGCCGCCC GTGGCACCCGCCTCTCCTGGGCCGCCAGCATTGCCCCCTGGGCCATCAGG AATGCCAGGGCCTCCTGGGCCATCAGCATCGCCCGTCGAACCCCCTGTGC CCCGGCCTTCGGCCTGCATGGCTCCGGAGCCTCTGCCCGGCTCTCAGAGA GAAGGTCAGGGCCCACGAGGATGCGGAGGCAGAGAGGCTGCAGGAAGTTC CGCCCCCTGGCGTGAGATGGGCAGCCCGGGATCCTCAGGGCGCCTGCGCA CAGGGGCCCTACTTCCGGCCCTGGGAGACCCCGAGTGAGCCCCGGAGCAC GTGACCGGTTCTCACCAACCCCGCCCCTCCCCAAGAGAGCCCGGGCCGGA AGGTGGCCGCAATGCCAGCTTGGACCCCTCACCCCTGAGCAGCCGGCTGT CCGCCGGACCCCTGTCCCGGGAGCCCTGCAGGGAGTCAGGCACTGCGGGG CCCAGCCTGTCCCATCCCCCGGGTCTCCCTCACATCGAGGAGCAAGACGG GCCTGGGAACACGGGGCCGGGACTGTGCGGCCATCGTCCCGGACCCTGCC TGCCCTGTCCGTCCTTGGGGGAGCGCCCAGGACAGACCCCGGGGGGCAGG CCTCTAACTGGGCTCAGCAGCCTCCGTCCCTGTCCTGGTCGCCCAGCTGG TGGGGTAGCTGGAACTGCATGTCTGGTGGGCGTGGCCTCGCGCCAGCCAA GGTCTCCCAGGCGCCAGGTCCAGCCAAGGTGGACGGGAGGGCCCAGCGGG ACCCGGGGCCGGATCTCACTCCTGGGTTCAACGGGTTCTGTCCCTGTCCT AGTCGCCCCGCCTGGTGGGGGAGCTGGAGCTGCGTGTGGGGTGGGTTGCG GGTGGCCTCCCACCAGCCAGGGGCTCCCGGGCTCTAGGCCTGGCCCAGGT GGACAGGCGGGACCTGCTGGACCTGAGGCTGGGTCGGGCCTGGCTCCTGG GTTCGGCAGTATCAGTCCCTGCCCTGGTCGCTCTTGCCTGGTAGGGAGCT GGGAGGTGACCCTGTGTCTGCTCAGTGGTGATCTATTTGTGTGTCTGGAA GGGGGTCAAATCCACGGGACAGGTACCTCTAGAGGCATGCAGGGGTGAGG GCGGCACGGCCCCGGGAGCTGAATGTCTGTGCCAGGCACACCTGTAGCAA CAGGAGGTGACCAGACAGGGCCTAGCCCTGAGGAAGGGGGAGGTACTGAA ATCCAAACCACTCTCCCCCACCTTCCAAATCCAGGAATCAGCAGCCTCTG CACCTGGGAAAAGCATATTGGCACTCATGTGGAAACTAAAAACGTTGATC TTTTGGAGGTAGAGCAGAATGATGGTTACCAGACGCTGGGAAAGGTGGGG AGGGTGGGGAGGTTAATGGGGACAAACATATAGTTGCATAGAAGGATTAA GTTCTAGTGTTTGATAGCACCGTAGAGGGACTATAGGTAATTATTTATTG TATATTTCAAAATAGCTAAAAGATAGGAAATGTTCCCCAAAAAAAGAAAT GATAAATGCTTGAGGTGGTGGAGATCCTAAATACCCCGACTTGATCATTA CATCGTGTGTGCGTGTGCATGTATCAGAATATCACATGTATCCCATAAAT ATGCAGAGTTATCATACATCAGTTAAAAATGTTTTTACTTACAGAAAAGA AAAATTCACCCAAGCTCTTGCGTGTACCTCCAGTTTATTATTTTCACTGC TGTATTTCATTACATATATTTCATTAAATGATGAATTTTAAAAACCAGAG AACACAACTTGTTAACACCTGGAATAGCTGAAAATCAGACATAACCCGGT TAGTGATTGCCATCCTTCCTGTCGTCCTCTGCTCAGTCTCCCCATTCTCA GACAGAGGCAGGCTAAAGTTCTTACCTTCAACAGGTCAGGGAAGGGAGAG TAAAGTGCATGTGACCCTGTCTTAGGAAGCAGGAAGACAGAGGGAGGGTC TCCGGGTCCCCATTATTTTCCCGGCCTATTATCCTCAGATCAAGTCAAGA AAGGAAGTCCTAACTGATTGAGAGATTCCTGGAGATACTGCCACTGTCCT GGAAGTCTCAGCCAGCCACTGGACCGGAAATCTCCATCAATATTTCAGCC AGAGCAACGTCTGCCACTAGATGGCATCAAACTCCAGCCGGGAGCAGGAC AGATTTGGATGGTCCAGCGGGCTTGCCTCATTCATTTCATTAACCCCACA GTAACACATTTTCACATTGTATGCGATTGGATTTCTTGGAAACTACCTAT TACATTACGGCAGAGTTTTATAGTCCTCTAATTTATCCATTCTGCTGATG ATGGGCAGGCATTTGGATAGTTTCCAGCCCTTGGCTATGAACATGCTTGT ACAGGTCTCTTGAAGCACATGTCCAAGTTTTTTTTTGGAATTGCTGTATC ACAGCCAATACATATCTCGAAATTTACTAGATAATGCCATGTTTTCCCAA GTGGTTTGAGCCAATTTTCGCTTCCACCATAATGTGTCAGCGTACATACA CATAGCTCAACATTCTCATCAATATTGACGGTACTAATCCGTTCTCGCAT TGCTATAAAGGACTACCTAAGACTGAGTAATTTATAAAGAAAAGAGGTTT AATTGACTCACAGTTCTGCAGGCTCTACAGGAAGCATGGCTGGGGAGGCC TCAGGAAAGTTACAATCATAGCGGAAGGCAAAGAGGAAGGAGGCACATCT TATATGGCCAGAGAAGGAGAAAGAGAAAGTGAAGGGGGAGGTGCTATACA CTTTTAAACAACCACATCTTGTGAGAGCTCAACATCACGAGAATAGCAAG GGGGAAATCGACCCCCATGATCCAATCGCCTCCCACCAGTCCCCTCCTCC AACACTAGGGATTACAATTCAACATGAGATTTGGGTGGGGACACAAATCC AAATCATATCATTCCACCCCTGCCCCCTCCCAAATCTCATGTACTTCTCA CATTGCAAAATACAATAATCTCCTCTCAACAGTCCCCCAAGTCTTAACCC ATTTCAGCATTAACTCAAAAATCCACAGTCCAAAGTCTCAACTGAGACAA GGCAAGTCCCTTCTGCCTATGAGCCTGTAAAATCTAAAACAAGTTAGCTA CTTCCAAGATAAAATTGAGGTACAGGCATTGGGTAAATACTCCCTTTCCA AAAGGGGGACATCGGCCAAAACAAAGGGGCTACAGGCCCCATGCAAGTCC AAAACCCAACAGGACAGTCATTAATTCTTTTTTTTTTTTTTTTCCACTAC AAAATAATTTATTCGAACACACAGCTACAGCGCGAGACTCCTATGTACAA GCACATTGACGCTCCTGACTACCCTCAACTAGAGGACCCTTTTCTTCCCC CTTGCCTTGCAGACCTCTTCTATCGAATCTTTCATGTACTGGATCTCCTC GGCCAGGGAATCCGCCCTCTCTTGCAGAGCCTCGTTCTTCTTTTCCACCG CTTTGCACTCACCAGTGAGGACCTCCTGCTCCACCCTCTTCTTCTGGCGA TACCTAGTTCCTGCTGTTTGGTTTTGCTCCATTTTTTTTTCAGCTTCTTA TCCAGTTTCTCACCCTTTACTTGTGCTGCTACCATCTTCTCTCCAGGAGG GTCATAAGGTTTGGGGCAGGCAGAGCCACAGAGGACACCTGGAGATGGCG GGCTCCTACTCGGAGAGCCCCTGGAGGTAGAGGGAGAGCCCAGATAGGAC TCTGGGCTCATACAGATGCCACTATCATTATCTGAGGGGGCGTCTTCCTC CTTTGTGCAGTGAGGGATCTTGGAAATGTAAGCAGTGGAGTCTGGCTTCC TAGCTCCTTCAAAGATATCCACTTCACTGCCCAGCTCTAGACTAAAGGAA TAATCTGGAGTGGAGGACTGGACCCCTGGGGAAAGGGGAAGAGGTTGCAA GAAGGTGAAGGGGGCAACCTGGTCGGGTTAAACTTTCTGGGAGATGGCAA ATCGGGTTCACCATCTGGGGGGGGCTCCTTAATAGTCTCCTGGACTGGGG GGGCTCCTTAATAGTCTCCTGGACTAGGGGGGCAAAGAGATCACACGAGT CATCCAACGTGGCCAGAAGCTCGTCTGGCATGGTTTCCAGGTCATCTATA CCCAACAGGGCATCAAAGTCGAACTCCTTCAGATCAGTTTTCTCCAACAT CCAATCTGTCCCAAAGAAAGCATCCTCCTTGCCATCGTTGGAGGCACTGA CCAACCCATCCACAGCCAGCCACTCGGAGGAGTCTGCCTTAGCCTTGTCG CTGGAGAACCCATGAGGTTTGAAGTGCTTGGCCACCTCCAGGTAGTCATC TAAGAGACCTAGGCTTTCTTCAGTCCCCAAACCTGACTGGTCAAGGGGGG ACATCAAGCCCCCACCAACACCTCGCTGCTCAGGAAGCTCATCTCGGTCA TGGTGCAGTGCTTTGCTGGAATCAACGAATGTGCTTAATTCGAAGGTGTC TTTGTCGGTTACAGCAATGCTGCTGCTGAATGCTGTGAGAAGTGCTACGG CTTAAGCCGCCGGTGGATGCCACTGCAGAGCCTGGTGCTGCTGCCACCGC TGCAAAGGCCAAGGCTGCCACAGGCACTGCTGCCCCTAAAACGCCATGGA GGCCATGGACCCTGCAGGCGGGGAGGAGGGAAGGTGCGCACGTGCGGAGG AAACTACATCTGTGGGCGGGCGGAGCAGAAAATCGTCATTAATTCTTAAA GCTCCAAAATAATCTCCTTTGGCTCCATGTCTTACATCCAGGCCACACTG AGGCAAGGGGTGGGCTCCTGAGGCCTTGGGCAGCTCCGCTCCTGTGGCTC TGCAGGGTACAGCCCCCTCGGCTGCTTTCCTGGGCTGGTATTGAATGTCT GCAGCTTTTCCAGGAGTATAATGCGAGTTGTCAGTGGATCTATGATTCGG GGGTCTTGAGGATGGTGGCCCCCTTCTCACAGCTCCACTAGGCAGTGCCC CAGTGGGGACTCCAACCCCAGATTTCCCTTCTGCACTACGCTAGTAGAGG TTCCCCAGGAGGGCTCCGCCCCTGCAGCAGACTTCTGCCTGGACATTCAG GCGTTTCCATACATCCTCTGAATCTAGGCAGAGGTTCCCAAGCCTCAACT TTTGCCCTCTGCATACCCGCAGGCTTAACACCACATGGAAGCCACCAAGG CTTACAGCTTGCACCCTCCAGAGCAGCAGCCGG	C C	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0032 a0005c0009t0002g0032	1	254	0.0039	-5232	c.-50 others(9): Show c.-5064_168del	p.Met others(3): Show p.Met1fs	CTAG1B	ENSG00000184033.14	transcript	ENST00000328435.3	protein_coding	1/3	232/759	1/543	1/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154652539	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0024 a0011c0016t0001g0024	1	314	0.0032	1	c.361 others(4): Show c.361dupG	p.Ala others(5): Show p.Ala121fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	2/3	425/759	361/543	121/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154652548	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0024 a0011c0016t0001g0024	1	314	0.0032	1	c.352 others(4): Show c.352dupC	p.Arg others(5): Show p.Arg118fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	2/3	416/759	352/543	118/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154653307	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0024 a0011c0016t0001g0024	1	314	0.0032	1	c.208 others(4): Show c.208dupT	p.Ser others(4): Show p.Ser70fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	1/3	272/759	208/543	70/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154653367	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0024 a0011c0016t0001g0024	1	314	0.0032	1	c.148 others(4): Show c.148dupG	p.Ala others(4): Show p.Ala50fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	1/3	212/759	148/543	50/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154653375	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0024 a0011c0016t0001g0024	1	314	0.0032	1	c.140 others(4): Show c.140dupG	p.Ala others(4): Show p.Ala48fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	1/3	204/759	140/543	47/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154653401	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA18940.hp1 NA18940.hp1	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0001 a0000c0011t0001	a0000c0011t0001g0016 a0000c0011t0001g0016	1	314	0.0032	1	c.114 others(4): Show c.114dupT	p.Ala others(4): Show p.Ala39fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	1/3	178/759	114/543	38/180		chrX	TogoVar
CTAG2_chrX_154646977_154658579	154653411	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0024 a0011c0016t0001g0024	1	314	0.0032	1	c.104 others(4): Show c.104dupG	p.Glu others(4): Show p.Glu36fs	CTAG2	ENSG00000126890.14	transcript	ENST00000369585.4	protein_coding	1/3	168/759	104/543	35/180		chrX	TogoVar
CTBP2_chr10_124979317_125033071	125027267	A A	ACAGGTGA others(16): Show ACAGGTGACCGGCGTCCTGCAGGG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00597.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0002 a0017c0022t0002	a0017c0022t0002g0157 a0017c0022t0002g0157	1	380	0.0026	23	c.470 others(30): Show c.470_492dupCCCTGCAGGACGCCGGTCACCTG	p.Tyr others(5): Show p.Tyr165fs	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	1/9	804/8471	492/2958	164/985		chr10	TogoVar
CTPS2_chrX_16582999_16717669	16689560	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0201 a0002c0004t0001g0201	1	226	0.0044	-1	c.761 others(4): Show c.761delC	p.Pro others(5): Show p.Pro254fs	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	8/19	1135/3953	761/1761	254/586		chrX	TogoVar
CTU1_chr19_51092606_51113409	51098802	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01978.hp1 HG01993.hp1 HG02647.hp1 others(11): Show HG01978.hp1 HG01993.hp1 HG02647.hp1 NA18964.hp1 NA18968.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA19030.hp1 NA19067.hp1 NA19067.hp2 NA19083.hp1 NA19086.hp1	a0000 a0000	a0000c0005 a0000c0007 a0000c0011 others(1): Show a0000c0005 a0000c0007 a0000c0011 a0000c0016	a0000c0005t0001 a0000c0005t0007 a0000c0005t0014 others(6): Show a0000c0005t0001 a0000c0005t0007 a0000c0005t0014 a0000c0005t0016 a0000c0005t0019 a0000c0007t0001 a0000c0007t0005 a0000c0011t0002 a0000c0016t0025	a0000c0005t0001g0150 a0000c0005t0001g0203 a0000c0005t0007g0163 others(11): Show a0000c0005t0001g0150 a0000c0005t0001g0203 a0000c0005t0007g0163 a0000c0005t0014g0226 a0000c0005t0016g0127 a0000c0005t0019g0089 a0000c0007t0001g0060 a0000c0007t0001g0075 a0000c0007t0001g0192 a0000c0007t0001g0213 a0000c0007t0005g0076 a0000c0011t0002g0129 a0000c0011t0002g0132 a0000c0016t0025g0120	14	454	0.0308	1	c.845 others(4): Show c.845dupC	p.Arg others(5): Show p.Arg283fs	CTU1	ENSG00000142544.7	transcript	ENST00000421832.3	protein_coding	3/3	929/2126	845/1047	282/348		chr19	TogoVar
CUL4B_chrX_120518858_120565962	120560161	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0157 a0002c0003t0015g0157	1	278	0.0036	-1	c.477 others(4): Show c.477delC	p.Lys others(5): Show p.Lys160fs	CUL4B	ENSG00000158290.19	transcript	ENST00000371322.11	protein_coding	1/20	801/5915	477/2688	159/895		chrX	TogoVar
CUL4B_chrX_120518858_120565962	120560241	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0157 a0002c0003t0015g0157	1	278	0.0036	1	c.397 others(4): Show c.397dupA	p.Thr others(5): Show p.Thr133fs	CUL4B	ENSG00000158290.19	transcript	ENST00000371322.11	protein_coding	1/20	721/5915	397/2688	133/895		chrX	TogoVar
CUL4B_chrX_120518858_120565962	120560611	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0157 a0002c0003t0015g0157	1	278	0.0036	-1	c.27d others(3): Show c.27delC	p.Ser others(4): Show p.Ser10fs	CUL4B	ENSG00000158290.19	transcript	ENST00000371322.11	protein_coding	1/20	351/5915	27/2688	9/895		chrX	TogoVar
CUL7_chr6_43032617_43058851	43042902	G G	GAGTTCTG others(16): Show GAGTTCTGCAGAATATTAAAGTGC	frameshift_variant frameshift_variant	HIGH	HG03486.hp2 HG03486.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0060 a0014c0021t0001g0060	1	302	0.0033	23	c.352 others(32): Show c.3522_3544dupGCACTTTAATATTCTGCAGAACT	p.Ser others(6): Show p.Ser1182fs	CUL7	ENSG00000044090.13	transcript	ENST00000265348.9	protein_coding	19/26	3782/5406	3544/5097	1182/1698		chr6	TogoVar
CWH43_chr4_48981275_49067079	49032652	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01069.hp2 HG01109.hp1 others(6): Show HG00738.hp2 HG01069.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp2 HG02027.hp2 HG03490.hp2 NA20752.hp1 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0150 others(4): Show a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0152 a0004c0004t0001g0154 a0004c0004t0001g0155	9	296	0.0304	-1	c.159 others(5): Show c.1596delA	p.Leu others(5): Show p.Leu533fs	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	12/16	1751/2444	1596/2100	532/699		chr4	TogoVar
CXCR3_chrX_71610919_71623511	71616731	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	323	0.0031	1	c.740 others(4): Show c.740dupG	p.Gln others(5): Show p.Gln248fs	CXCR3	ENSG00000186810.8	transcript	ENST00000373693.4	protein_coding	2/2	802/1615	740/1107	247/368		chrX	TogoVar
CXXC4_chr4_104463308_104499894	104491452	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01243.hp1 HG01928.hp1 others(17): Show HG01099.hp1 HG01243.hp1 HG01928.hp1 HG01952.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02647.hp1 HG03927.hp1 HG03927.hp2 NA18940.hp2 NA18979.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0017 a0002c0002t0027 a0002c0002t0039 a0002c0002t0044	a0002c0002t0001g0010 a0002c0002t0001g0041 a0002c0002t0001g0095 others(12): Show a0002c0002t0001g0010 a0002c0002t0001g0041 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0002g0037 a0002c0002t0002g0097 a0002c0002t0002g0151 a0002c0002t0004g0046 a0002c0002t0006g0166 a0002c0002t0010g0100 a0002c0002t0012g0088 a0002c0002t0017g0074 a0002c0002t0027g0181 a0002c0002t0039g0087 a0002c0002t0044g0098	20	332	0.0602	1	c.350 others(4): Show c.350dupG	p.Gly others(5): Show p.Gly118fs	CXXC4	ENSG00000168772.12	transcript	ENST00000394767.3	protein_coding	2/3	801/5569	350/1104	117/367		chr4	TogoVar
CXorf49B_chrX_71758349_71772204	71763582	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0007 a0009c0007t0001g0007	1	95	0.0105	1	c.162 others(4): Show c.162dupG	p.Phe others(4): Show p.Phe55fs	CXorf49B	ENSG00000215113.7	transcript	ENST00000542739.3	protein_coding	1/6	238/1795	163/1545	55/514	INFO_REALIGN_3_PRIME	chrX	TogoVar
CXorf49B_chrX_71758349_71772204	71765946	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18946.hp1 NA18946.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0003 a0005c0009t0001g0003	1	95	0.0105	-1	c.140 others(5): Show c.1409delC	p.Pro others(5): Show p.Pro470fs	CXorf49B	ENSG00000215113.7	transcript	ENST00000542739.3	protein_coding	3/6	1484/1795	1409/1545	470/514	INFO_REALIGN_3_PRIME	chrX	TogoVar
CXorf49_chrX_71709371_71723285	71715593	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG01169.hp2 HG01169.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0014 a0009c0011t0001g0014	1	73	0.0137	-1	c.143 others(5): Show c.1439delG	p.Gly others(5): Show p.Gly480fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	3/6	1573/1854	1439/1545	480/514		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71716937	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00558.hp1 HG00558.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0021 a0007c0014t0001g0021	1	73	0.0137	-1	c.121 others(5): Show c.1214delC	p.Pro others(5): Show p.Pro405fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	1/6	1348/1854	1214/1545	405/514		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71716952	A A	AT AT	frameshift_variant frameshift_variant	HIGH	HG00558.hp1 HG00558.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0021 a0007c0014t0001g0021	1	73	0.0137	1	c.119 others(5): Show c.1199dupA	p.Asn others(5): Show p.Asn400fs	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding	1/6	1333/1854	1199/1545	400/514		chrX	TogoVar

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Search Results (Total: 5828 hits)