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
BSN_chr3_49549477_49676549	49605479	A A	ATATAATA others(31): Show ATATAATATATATAATATATATTATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0015 a0003c0004t0004g0015	1	186	0.0054	38	c.225 others(57): Show c.225-19484_225-19483insAATATATATTATATAATATATATTAT TATAATATATAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATACA others(31): Show TATATACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	38	c.-49 others(49): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(31): Show TATATATATACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	412	0.0024	38	c.-49 others(49): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAT ATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(31): Show TATATATATATACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02738.hp1 NA18951.hp1 others(2): Show HG01243.hp1 HG02738.hp1 NA18951.hp1 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0027 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0009g0017	5	412	0.0121	38	c.-49 others(49): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAT ATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG04228.hp1 NA18974.hp2 HG00609.hp2 HG04228.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0008 a0001c0013t0002 a0001c0001t0002 a0001c0001t0008 a0001c0013t0002	a0001c0001t0002g0303 a0001c0001t0008g0233 a0001c0013t0002g0091 a0001c0001t0002g0303 a0001c0001t0008g0233 a0001c0013t0002g0091	3	330	0.0091	38	c.285 others(55): Show c.2855-849_2855-848insTATATATATATATATATATATATATATA TATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991271	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02129.hp2 HG02004.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0261 a0001c0001t0002g0232 a0001c0001t0002g0261	2	330	0.0061	38	c.285 others(55): Show c.2855-827_2855-826insTATATATATATATATATATATATATATA TATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD19_chr1_44803523_44820585	44814224	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0005 a0001c0001t0067g0005	1	436	0.0023	38	c.45 others(47): Show c.453_*454insTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	454	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD1_chr15_83011423_83072252	83042348	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	328	0.0031	38	c.665 others(53): Show c.665-424_665-423insTATATATATATATATATATATATATATATA TATATATA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83055286	T T	TTCCCTCT others(31): Show TTCCCTCTGTCACCCAAGCTGGACTGCAATGGCGCAATC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044	3	328	0.0092	38	c.558 others(55): Show c.558+1065_558+1102dupGATTGCGCCATTGCAGTCCAGCTTGGGT GACAGAGGGA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	1988584	A A	AGACGGAG others(31): Show AGACGGAGTTTCGCTCTTGTCCCCCAGGCTAGAGTGCAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	364	0.0028	38	c.989 others(53): Show c.989-930_989-893dupCTGCACTCTAGCCTGGGGGACAAGAGCGAA ACTCCGTC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	5/8			chr19	TogoVar
BTBD2_chr19_1980448_2020714	1988633	C C	CGCTCTTG others(31): Show CGCTCTTGTCCCCCAGGCTAGAGTGCAGGACGGAGTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG03098.hp1 others(3): Show HG02572.hp1 HG02630.hp1 HG03098.hp1 HG03195.hp1 HG03471.hp1 NA18522.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0007 a0001c0001 a0003c0006 a0004c0007	a0001c0001t0015 a0003c0006t0002 a0003c0006t0004 others(1): Show a0001c0001t0015 a0003c0006t0002 a0003c0006t0004 a0004c0007t0004	a0001c0001t0015g0239 a0003c0006t0002g0140 a0003c0006t0004g0138 others(3): Show a0001c0001t0015g0239 a0003c0006t0002g0140 a0003c0006t0004g0138 a0003c0006t0004g0139 a0003c0006t0004g0141 a0004c0007t0004g0343	6	364	0.0165	38	c.989 others(53): Show c.989-942_989-941insAAAACTCCGTCCTGCACTCTAGCCTGGGGG ACAAGAGC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	5/8			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015866	C C	CGGGAAGG others(31): Show CGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02818.hp2 others(1): Show HG02622.hp2 HG02630.hp1 HG02818.hp2 NA20129.hp2	a0004 a0007 a0004 a0007	a0004c0007 a0004c0012 a0007c0015 a0004c0007 a0004c0012 a0007c0015	a0004c0007t0004 a0004c0012t0002 a0004c0012t0011 others(1): Show a0004c0007t0004 a0004c0012t0002 a0004c0012t0011 a0007c0015t0022	a0004c0007t0004g0343 a0004c0012t0002g0342 a0004c0012t0011g0341 others(1): Show a0004c0007t0004g0343 a0004c0012t0002g0342 a0004c0012t0011g0341 a0007c0015t0022g0009	4	364	0.0110	38	c.-20 others(47): Show c.-201_-164dupCCTCCTTTCCCCTCCCTCTCCTCCCCTCCCTCCTTC CC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		153		chr19	TogoVar
BTBD9_chr6_38163451_38644929	38374284	T T	TATATATA others(31): Show TATATATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	224	0.0045	38	c.115 others(59): Show c.1155-29192_1155-29191insGTATATATATATATATATATATAT GTATATATATATAT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTRC_chr10_101349165_101562313	101366940	A A	ATATATAT others(31): Show ATATATATTTATATATTTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	266	0.0038	38	c.48+ others(55): Show c.48+12727_48+12728insTTATATATATATTTATATATATTTATAT ATTTATATAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0042 a0001c0001t0065g0042	1	418	0.0024	38	c.266 others(53): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUD13_chr11_116743173_116777987	116769156	T T	TCATGAAC others(31): Show TCATGAACCACTGGGAGGTCATTTGCCTATGATTTTGTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	440	0.0023	38	c.237 others(53): Show c.237+935_237+972dupGACAAAATCATAGGCAAATGACCTCCCAGT GGTTCATG	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	2/9			chr11	TogoVar
C10orf90_chr10_126419997_126675693	126442478	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0124 a0001c0008t0003g0124	1	218	0.0046	38	c.218 others(59): Show c.2189-12629_2189-12628insATATATATATATATATATATATAT ATATATATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126445805	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0082 a0001c0008t0004g0082	1	218	0.0046	38	c.218 others(59): Show c.2188+13234_2188+13235insTATATATATATATATATATATATA TATATATATATATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9			chr10	TogoVar
C11orf21_chr11_2290628_2306918	2300109	A A	AGGGTGGG others(31): Show AGGGTGGGCAGGGGTGTGTGGGGTGGGCAGGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01884.hp2 others(12): Show HG01069.hp2 HG01071.hp2 HG01884.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0021	a0001c0001t0006g0009 a0001c0001t0008g0072 a0001c0001t0009g0008 others(2): Show a0001c0001t0006g0009 a0001c0001t0008g0072 a0001c0001t0009g0008 a0001c0001t0019g0073 a0001c0001t0021g0074	15	426	0.0352	38	c.147 others(53): Show c.147+373_148-403dupCACACACCCCTGCCCACCCCACACACCCCT GCCCACCC	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/3			chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394243	T T	TTTTCTTT others(31): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG04199.hp1 HG01993.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	2	422	0.0047	38	c.57 others(49): Show c.5716_*5717insGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAA GAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4288		chr11	TogoVar
C11orf80_chr11_66739769_66848516	66777043	C C	CTATATCT others(31): Show CTATATCTATATATCTATATCTATATATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp2 HG02071.hp2 others(4): Show HG00738.hp2 HG01361.hp2 HG02071.hp2 HG02602.hp1 HG02738.hp1 HG03942.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0001g0232 others(4): Show a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0218 a0001c0001t0011g0233	7	248	0.0282	38	c.26- others(55): Show c.26-11077_26-11040dupATATCTATATATCTATATCTATATATCT ATATCTATAT	C11orf80	ENSG00000173715.19	transcript	ENST00000540737.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
C11orf87_chr11_109417190_109434167	109431022	A A	AATAAGCT others(31): Show AATAAGCTGAAGAAGCTCTTGTGATAACCTACCTCTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	390	0.0026	38	c.67 others(49): Show c.6795_*6796insATAAGCTGAAGAAGCTCTTGTGATAACCTACCTC TAAC	C11orf87	ENSG00000185742.7	transcript	ENST00000327419.7	protein_coding		1856		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39711675	G G	GTGTGTAT others(31): Show GTGTGTATGCACATGTATGTGTATGTGTATACACATGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	360	0.0028	38	c.141 others(57): Show c.1412-5066_1412-5029dupTATGTGTATGTGTATACACATGCATG TGTATGCACATG	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39712357	C C	CATATGTA others(31): Show CATATGTATATATACCTGTATATGTACCTGTATGTATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0035 a0005c0003t0001g0035	1	360	0.0028	38	c.141 others(57): Show c.1412-4396_1412-4395insTGTATATATACCTGTATATGTACCTG TATGTATATATA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	406	0.0025	38	c.-36 others(49): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		3430		chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	441	0.0023	38	c.750 others(53): Show c.750+943_750+944insTTATATATATATATATATATATATATATAT ATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(31): Show TTTTATATATATATATATTATATATATATATATATAATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	441	0.0023	38	c.750 others(53): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TATAATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18998.hp1 HG02055.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0290 a0002c0002t0001g0082 a0001c0001t0001g0290 a0002c0002t0001g0082	2	441	0.0045	38	c.750 others(53): Show c.750+972_750+973insTATATATATATATATATATATATATATATA TATCTATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	441	0.0023	38	c.750 others(53): Show c.750+972_750+973insTATATATATATATATATATATATATATATC TATCTATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG01071.hp1 others(4): Show HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp1 HG03239.hp1 HG03654.hp1 NA18953.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0012 a0002c0002 others(2): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0012t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0002	a0001c0001t0001g0019 a0001c0001t0001g0153 a0001c0012t0001g0071 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0153 a0001c0012t0001g0071 a0002c0002t0001g0155 a0003c0003t0001g0049 a0004c0004t0002g0042	7	466	0.0150	38	c.-35 others(47): Show c.-356_-355insTATATATATATATATATATATATATATATATATATA TA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18984.hp2 NA19054.hp2 HG02040.hp1 NA18984.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0152 a0001c0001t0001g0192 a0001c0001t0002g0138 a0001c0001t0001g0152 a0001c0001t0001g0192 a0001c0001t0002g0138	3	452	0.0066	38	c.57- others(53): Show c.57-2023_57-2022insATATATATATATATATATATATATATATAT ATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02155.hp2 HG02258.hp1 others(4): Show HG00140.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp2 HG02886.hp1 HG03130.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0255 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0255 a0001c0001t0001g0348 a0001c0001t0002g0340 a0001c0001t0002g0432 a0001c0001t0003g0082	7	452	0.0155	38	c.57- others(53): Show c.57-2039_57-2038insTTATATATATATATATATATATATATATAT ATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf159_chr1_1076823_1121089	1091706	T T	TGGGGCTG others(31): Show TGGGGCTGTGGTGGAGGGTGGGGCCAAATGGAAGTGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	326	0.0031	38	c.-22 others(53): Show c.-22-179_-22-142dupGCCCACTTCCATTTGGCCCCACCCTCCACC ACAGCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	2/9			chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410628	T T	TATATTAT others(31): Show TATATTATATATATATTATATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0176 a0001c0001t0049g0176	1	232	0.0043	38	c.-12 others(59): Show c.-125+23264_-125+23265insTATATATATATTATATATATAATA TATATATATAATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410632	T T	TAATATAT others(31): Show TAATATATATATTATATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0026 a0001c0001t0048g0026	1	232	0.0043	38	c.-12 others(59): Show c.-125+23265_-125+23266insATATATATATTATATATATATATA TTATATATATATAA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf50_chr1_42762249_42784491	42775762	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0079 a0001c0001t0109g0079	1	418	0.0024	38	c.39 others(47): Show c.392_*393insTATATATATATATATATATATATATATATATATATA TA	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	393	INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf87_chr1_59985394_60078770	60064250	G G	GATATATA others(31): Show GATATATATATTTTATATATCATATATAAATTATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0357 a0012c0018t0002g0357	1	382	0.0026	38	c.107 others(55): Show c.107+8249_107+8286dupAATATATAATTTATATATGATATATAAA ATATATATAT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C1orf87_chr1_59985394_60078770	60064270	C C	CATATATA others(31): Show CATATATAAATTATATATTATATATATATTTTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp1 others(52): Show HG00140.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01169.hp2 HG01258.hp1 HG01433.hp2 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18957.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18979.hp2 NA18987.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19055.hp2 NA19058.hp2 NA19062.hp1 NA19084.hp1 NA19086.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0004 a0002c0024 others(3): Show a0001c0001 a0001c0004 a0002c0024 a0003c0003 a0004c0006 a0009c0013	a0001c0001t0001 a0001c0004t0001 a0002c0024t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0002c0024t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0005 a0004c0006t0001 a0009c0013t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(47): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0244 a0001c0004t0001g0269 a0002c0024t0001g0253 a0003c0003t0001g0001 a0003c0003t0001g0011 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0268 a0003c0003t0003g0237 a0003c0003t0005g0030 a0004c0006t0001g0231 a0004c0006t0001g0260 a0004c0006t0001g0261 a0004c0006t0001g0262 a0004c0006t0001g0265 a0004c0006t0001g0266 a0004c0006t0001g0267 a0004c0006t0001g0270 a0009c0013t0001g0010	55	382	0.1440	38	c.107 others(55): Show c.107+8229_107+8266dupTATATATAAAATATATATATAATATATA ATTTATATAT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C1orf87_chr1_59985394_60078770	60065012	A A	ATATTTAA others(31): Show ATATTTAATATATAAAATATATATTAAATATATTATTAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0085 a0001c0004t0001g0085	1	382	0.0026	38	c.107 others(55): Show c.107+7524_107+7525insATAATAATATATTTAATATATATTTTAT ATATTAAATA	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C2CD2_chr21_41880112_41959018	41908243	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0321 a0001c0003t0020g0321	1	396	0.0025	38	c.101 others(55): Show c.1019-460_1019-459insCACACACACACACACACACACACACACA CACACACACA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	8/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(31): Show TTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02080.hp2 HG02109.hp1 others(4): Show HG01258.hp2 HG02080.hp2 HG02109.hp1 HG02486.hp2 HG02818.hp1 HG02965.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0003c0015 a0003c0017	a0001c0002t0004 a0001c0003t0015 a0001c0003t0020 others(4): Show a0001c0002t0004 a0001c0003t0015 a0001c0003t0020 a0001c0004t0005 a0003c0015t0005 a0003c0017t0005 a0003c0017t0018	a0001c0002t0004g0345 a0001c0003t0015g0328 a0001c0003t0020g0321 others(4): Show a0001c0002t0004g0345 a0001c0003t0015g0328 a0001c0003t0020g0321 a0001c0004t0005g0313 a0003c0015t0005g0329 a0003c0017t0005g0314 a0003c0017t0018g0330	7	396	0.0177	38	c.280 others(55): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0010 a0003c0015t0010	a0003c0015t0010g0272 a0003c0015t0010g0272	1	396	0.0025	38	c.280 others(55): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0043 a0001c0003t0009g0043	1	396	0.0025	38	c.280 others(55): Show c.280-4893_280-4892insGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74116935	T T	TACACATA others(31): Show TACACATATACACGTATATATGTGTATATACACATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0220 a0016c0021t0001g0220	1	318	0.0031	38	c.152 others(57): Show c.1520+1255_1520+1292dupGTATATGTGTATATACACATATATAC GTGTATATGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	411018	C C	CCGGATCC others(31): Show CCGGATCCTGGGGGTCCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0159 a0001c0001t0053g0159	1	322	0.0031	38	c.-20 others(49): Show c.-2054_-2053insTGCCCAGCAGGGGCGGTGGACAGGACCCCCAGGA TCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1872		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27550260	T T	TCATCATT others(31): Show TCATCATTTATGTGTAATGTTTGCTATATAAACATTACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0032 a0032	a0032c0049 a0032c0049	a0032c0049t0001 a0032c0049t0001	a0032c0049t0001g0177 a0032c0049t0001g0177	1	326	0.0031	38	c.144 others(57): Show c.144+12713_144+12750dupCTATATAAACATTACACATCATTTAT GTGTAATGTTTG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf49_chr2_105332540_105354211	105351326	C C	CCAAAAAA others(31): Show CCAAAAAAAAAGGTTATTTCTGTTTCCCCTTTTCATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	414	0.0024	38	c.59 others(49): Show c.5955_*5956insCAAAAAAAAAGGTTATTTCTGTTTCCCCTTTTCA TACA	C2orf49	ENSG00000135974.10	transcript	ENST00000258457.7	protein_coding		2116		chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922029	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	412	0.0024	38	c.334 others(55): Show c.334-3032_334-3031insATATATATATATATATATATATATATAT ATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp2 HG01981.hp1 others(4): Show HG01070.hp1 HG01891.hp2 HG01981.hp1 HG02300.hp2 HG03688.hp1 NA18947.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0024 a0001c0002t0002 a0001c0001t0003 a0001c0001t0024 a0001c0002t0002	a0001c0001t0003g0028 a0001c0001t0003g0163 a0001c0001t0003g0173 others(3): Show a0001c0001t0003g0028 a0001c0001t0003g0163 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0024g0028 a0001c0002t0002g0092	7	412	0.0170	38	c.334 others(55): Show c.334-3008_334-3007insATATATATATATATATATATATATATAT ATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf70_chr3_185071838_185158060	185134116	C C	CTCATATA others(31): Show CTCATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0370 a0001c0001t0029g0370	1	388	0.0026	38	c.196 others(57): Show c.196+18511_196+18512insATATATATATATATATATATATATAT ATATATATATGA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar

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Search Results (Total: 5880 hits)