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
A2ML1_chr12_8817621_8881787	8843710	CCTTTTTT others(33): Show CCTTTTTTTTTCTTTTTTTTTTTTTTTGAGACACAGTCTCG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0150 a0002c0004t0003g0150	1	368	0.0027	-40	c.147 others(57): Show c.1476+352_1476+391delTTTTTTTTCTTTTTTTTTTTTTTTGAGA CACAGTCTCGCT	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125085474	GTGGAACC others(33): Show GTGGAACCACACACATGCACGTTGCATCCACATGTGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	364	0.0028	-40	c.359 others(55): Show c.359-846_359-807delACACATGCACGTTGCATCCACATGTGTTTC ATGGAACCAC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AARSD1_chr17_42945526_42969454	42967175	TATATAAT others(33): Show TATATAATATAATATATAAAATATATATTATATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	324	0.0031	-40	c.-27 others(51): Show c.-2775_-2736delTATATATTATATAATATATATTTTATATATTATA TTATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2722		chr17	TogoVar
ABAT_chr16_8669617_8789570	8737933	AAGAAAGG others(33): Show AAGAAAGGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0306 a0002c0002t0002g0306	1	362	0.0028	-40	c.70+ others(55): Show c.70+2126_70+2165delGAAAGGAAAGGAAGAAAGGAAGGAAGGAAG GAAGGAAGGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8754662	ATTTATTT others(33): Show ATTTATTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	362	0.0028	-40	c.317 others(57): Show c.317-3091_317-3052delATTTATTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69218618	TATATATA others(33): Show TATATATATAAATGCATAGACTATATAGATGGAGAGCATAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0007 a0007c0008t0004 a0007c0008t0007	a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 others(5): Show a0007c0008t0004g0196 a0007c0008t0007g0006 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0007c0008t0007g0336 a0007c0008t0007g0337 a0007c0008t0007g0338	9	348	0.0259	-40	c.530 others(55): Show c.530+887_530+926delCTATGCTCTCCATCTATATAGTCTATGCAT TTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	6/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862673	CCGGGCCG others(33): Show CCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCACCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0025 a0002c0032t0001g0025	1	318	0.0031	-40	c.422 others(55): Show c.422-913_422-874delTGGGGGTGGGGGCCGGCCCGGCCCGGCCCG GCCCGGCCCG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2343708	CCTATCTA others(33): Show CCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	252	0.0040	-40	c.-37 others(51): Show c.-3714_-3675delATAGATAGATAGATAGATAGATAGATAGATAGAT AGATAG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2981		chr16	TogoVar
ABCA4_chr1_93987834_94126148	94044064	CGCTTCCT others(33): Show CGCTTCCTTCTCCCCTCCCTCCCTCCCTTCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18959.hp2 NA19090.hp2 NA18950.hp1 NA18959.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0280	3	306	0.0098	-40	c.305 others(57): Show c.3050+509_3050+548delAAGGAAGGAAAGAAGGGAGGGAGGGAGG GGAGAAGGAAGC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	20/49			chr1	TogoVar
ABCB5_chr7_20610667_20762008	20681000	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp1 NA18949.hp2 others(3): Show HG00621.hp2 HG03688.hp1 NA18949.hp2 NA18988.hp2 NA18998.hp1 NA19077.hp1	a0008 a0012 a0028 others(3): Show a0008 a0012 a0028 a0061 a0062 a0063	a0008c0009 a0012c0013 a0028c0034 others(3): Show a0008c0009 a0012c0013 a0028c0034 a0061c0081 a0062c0083 a0063c0082	a0008c0009t0002 a0012c0013t0001 a0028c0034t0001 others(3): Show a0008c0009t0002 a0012c0013t0001 a0028c0034t0001 a0061c0081t0008 a0062c0083t0002 a0063c0082t0001	a0008c0009t0002g0215 a0012c0013t0001g0101 a0028c0034t0001g0108 others(3): Show a0008c0009t0002g0215 a0012c0013t0001g0101 a0028c0034t0001g0108 a0061c0081t0008g0111 a0062c0083t0002g0112 a0063c0082t0001g0102	6	360	0.0167	-40	c.170 others(57): Show c.1708-503_1708-464delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681022	CTTTCTTT others(33): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG03209.hp1 others(1): Show HG01243.hp2 HG02622.hp1 HG03209.hp1 NA18522.hp2	a0002 a0007 a0011 a0002 a0007 a0011	a0002c0003 a0007c0070 a0011c0017 a0002c0003 a0007c0070 a0011c0017	a0002c0003t0003 a0002c0003t0011 a0007c0070t0009 others(1): Show a0002c0003t0003 a0002c0003t0011 a0007c0070t0009 a0011c0017t0003	a0002c0003t0003g0005 a0002c0003t0011g0013 a0007c0070t0009g0009 others(1): Show a0002c0003t0003g0005 a0002c0003t0011g0013 a0007c0070t0009g0009 a0011c0017t0003g0004	4	360	0.0111	-40	c.170 others(57): Show c.1708-481_1708-442delTTCTTTCTTTCTCTTTCTTTCTTTCTCT CTCTCTCTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681034	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0047 a0047	a0047c0059 a0047c0059	a0047c0059t0003 a0047c0059t0003	a0047c0059t0003g0012 a0047c0059t0003g0012	1	360	0.0028	-40	c.170 others(57): Show c.1708-455_1708-416delCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43425190	GGCCGCCC others(33): Show GGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0152 a0013c0023t0001g0152	1	342	0.0029	-40	c.-25 others(51): Show c.-2578_-2539delGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGC CCAGCA	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		2350		chr6	TogoVar
ABCC10_chr6_43422541_43455427	43425331	GGGGGCAG others(33): Show GGGGGCAGCCCCCGCCCGGCTAGCTGCCCCGTCCAGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	342	0.0029	-40	c.-24 others(51): Show c.-2437_-2398delGGGGCAGCCCCCGCCCGGCTAGCTGCCCCGTCCA GGAGGT	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		2209		chr6	TogoVar
ABCC4_chr13_95014835_95306451	95029195	TATATATA others(33): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0002 a0008c0031t0002	a0008c0031t0002g0002 a0008c0031t0002g0002	1	248	0.0040	-40	c.387 others(59): Show c.3870+5370_3870+5409delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(33): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0048 a0013c0048	a0013c0048t0021 a0013c0048t0021	a0013c0048t0021g0162 a0013c0048t0021g0162	1	248	0.0040	-40	c.387 others(59): Show c.3870+5366_3870+5405delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029201	TATATATA others(33): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02622.hp2 HG03831.hp1 others(1): Show HG01952.hp1 HG02622.hp2 HG03831.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0001c0039 others(1): Show a0001c0002 a0001c0007 a0001c0039 a0002c0059	a0001c0002t0002 a0001c0007t0002 a0001c0039t0002 others(1): Show a0001c0002t0002 a0001c0007t0002 a0001c0039t0002 a0002c0059t0006	a0001c0002t0002g0190 a0001c0007t0002g0219 a0001c0039t0002g0113 others(1): Show a0001c0002t0002g0190 a0001c0007t0002g0219 a0001c0039t0002g0113 a0002c0059t0006g0058	4	248	0.0161	-40	c.387 others(59): Show c.3870+5364_3870+5403delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029207	TATATATA others(33): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0242 a0001c0014t0008g0242	1	248	0.0040	-40	c.387 others(59): Show c.3870+5358_3870+5397delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0034 a0001c0009t0023g0034	1	248	0.0040	-40	c.116 others(59): Show c.1162-1685_1162-1646delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCG8_chr2_43833971_43887988	43860077	CCCTCTGG others(33): Show CCCTCTGGACAGAACTCTGAGTATCTGGATAGAATTATCAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0023 a0003c0010t0123 a0003c0010t0023 a0003c0010t0123	a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 others(1): Show a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 a0003c0010t0123g0038	4	318	0.0126	-40	c.964 others(57): Show c.964+7218_964+7257delCAGAACTCTGAGTATCTGGATAGAATTA TCATCCTCTGGA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870963	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	376	0.0027	-40	c.-12 others(51): Show c.-1211_-1172delAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1089		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25312855	TCTCCGCC others(33): Show TCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTGCGGAGCCC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	316	0.0032	-40	c.619 others(57): Show c.619+2030_619+2069delGGGCTCCGCACTTCTCAGACGGGGCGGC TGCCGGGCGGAG	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	6/12			chr20	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(33): Show GTGTATATGTATATATATATATATATATATATATATAAATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01516.hp2 NA18946.hp2 others(2): Show HG01109.hp2 HG01516.hp2 NA18946.hp2 NA18965.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0285 others(2): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0003g0198	5	320	0.0156	-40	c.117 others(59): Show c.117+10297_117+10336delGTATATGTATATATATATATATATAT ATATATATAAATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338928	GTATATGT others(33): Show GTATATGTATATATATATATATATATATATATATAAATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	320	0.0031	-40	c.117 others(59): Show c.117+10303_117+10342delGTATATATATATATATATATATATAT ATAAATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830110	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	238	0.0042	-40	c.245 others(57): Show c.2458+428_2459-447delATATATATATATATATATATATATATAT ATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179135276	AGGAAGTG others(33): Show AGGAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02451.hp1 others(3): Show HG01109.hp1 HG02055.hp1 HG02451.hp1 HG03209.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0038 a0001c0001t0020 a0001c0001t0038	a0001c0001t0020g0155 a0001c0001t0020g0196 a0001c0001t0020g0197 others(3): Show a0001c0001t0020g0155 a0001c0001t0020g0196 a0001c0001t0020g0197 a0001c0001t0020g0235 a0001c0001t0038g0216 a0001c0001t0038g0221	6	350	0.0171	-40	c.158 others(57): Show c.158-1942_158-1903delCAGATGTGATGGCGGCCGGGAAGAGGCG CTCCTCACTTCC	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114583440	CACACACA others(33): Show CACACACACACACACACACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG02622.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0110 a0001c0022t0160 a0001c0002t0110 a0001c0022t0160	a0001c0002t0110g0157 a0001c0022t0160g0152 a0001c0002t0110g0157 a0001c0022t0160g0152	2	256	0.0078	-40	c.380 others(57): Show c.380-7881_380-7842delATATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(33): Show CACACACACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01978.hp2 HG02970.hp2 others(1): Show HG01358.hp2 HG01978.hp2 HG02970.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0015 a0001c0001t0041 a0001c0001t0105 others(1): Show a0001c0001t0015 a0001c0001t0041 a0001c0001t0105 a0004c0008t0012	a0001c0001t0015g0028 a0001c0001t0041g0229 a0001c0001t0105g0145 others(1): Show a0001c0001t0015g0028 a0001c0001t0041g0229 a0001c0001t0105g0145 a0004c0008t0012g0139	4	256	0.0156	-40	c.380 others(57): Show c.380-7893_380-7854delATATATATATATATATATATATATGTGT GTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM3_chr5_149136493_149265542	149225966	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0020 a0002c0005t0013g0020	1	258	0.0039	-40	c.758 others(57): Show c.758-4681_758-4642delGTGTGTGTGTGTGTGTATATATATATAT ATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1037045	ATCCATCC others(33): Show ATCCATCCATCCACCCATCCATCCACCCACCCACCCATCCT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp2 NA19030.hp1 HG01261.hp2 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0135 a0001c0001t0006g0118 a0001c0001t0008g0020 a0001c0001t0001g0135 a0001c0001t0006g0118 a0001c0001t0008g0020	3	337	0.0089	-40	c.179 others(61): Show c.1791+12965_1791+13004delAGGATGGGTGGGTGGGTGGATGGA TGGGTGGATGGATGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1062873	ACTGTTAT others(33): Show ACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01192.hp1 others(8): Show HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02273.hp1 HG02738.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0032 a0001c0001t0082 a0001c0003t0012 a0001c0003t0083	a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 others(8): Show a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0007g0325 a0001c0001t0019g0057 a0001c0001t0032g0259 a0001c0001t0082g0302 a0001c0003t0012g0105 a0001c0003t0083g0285	11	337	0.0326	-40	c.118 others(59): Show c.1183-4046_1183-4007delCATCTAGAGGAACATGCATAGCCCTC AGTTCACATAACAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1063548	CCTCTAGA others(33): Show CCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03130.hp2 others(2): Show HG02486.hp2 HG02647.hp1 HG03130.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0008 a0001c0002t0011 a0001c0002t0092 others(2): Show a0001c0002t0008 a0001c0002t0011 a0001c0002t0092 a0001c0004t0024 a0001c0013t0018	a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0092g0336 others(2): Show a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0092g0336 a0001c0004t0024g0041 a0001c0013t0018g0108	5	337	0.0148	-40	c.118 others(59): Show c.1182+3489_1182+3528delCAACATGCATAGCCCTCAGTTCACAT AACAGTGTCTAGAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1112385	GAAATAGG others(33): Show GAAATAGGGAAGGGTTTCCAGGCAAAGAAGAGAAGGCCCGA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0275 a0001c0001t0015g0275	1	337	0.0030	-40	c.247 others(59): Show c.247-11690_247-11651delTCGGGCCTTCTCTTCTTTGCCTGGAA ACCCTTCCCTATTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469974	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02155.hp2 NA18964.hp1 HG01496.hp2 HG02155.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0009 a0001c0003 a0002c0002 a0002c0009	a0001c0003t0005 a0002c0002t0004 a0002c0009t0003 a0001c0003t0005 a0002c0002t0004 a0002c0009t0003	a0001c0003t0005g0143 a0002c0002t0004g0127 a0002c0009t0003g0065 a0001c0003t0005g0143 a0002c0002t0004g0127 a0002c0009t0003g0065	3	186	0.0161	-40	c.113 others(61): Show c.1136-50509_1136-50470delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469978	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0008 a0016c0019t0008	a0016c0019t0008g0020 a0016c0019t0008g0020	1	186	0.0054	-40	c.113 others(61): Show c.1136-50505_1136-50466delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37202678	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0293 a0001c0001t0035g0299 a0001c0001t0001g0293 a0001c0001t0035g0299	2	299	0.0067	-40	c.405 others(59): Show c.4057-2235_4057-2196delGTGTGTATATATATATATATATATAT ATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109140231	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCATCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01069.hp1 HG01106.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0270 a0009c0025t0001g0301 a0009c0025t0001g0270 a0009c0025t0001g0301	2	308	0.0065	-40	c.653 others(55): Show c.653+198_653+237delATCCTTCCTTCCTTCTTTCCTTCCTTCCTT CCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(33): Show ATCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 NA18906.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp1	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0069 a0007c0057 a0015c0114 a0001c0069 a0007c0057 a0015c0114	a0001c0069t0002 a0007c0057t0004 a0015c0114t0004 a0001c0069t0002 a0007c0057t0004 a0015c0114t0004	a0001c0069t0002g0204 a0007c0057t0004g0207 a0015c0114t0004g0009 a0001c0069t0002g0204 a0007c0057t0004g0207 a0015c0114t0004g0009	3	308	0.0097	-40	c.653 others(55): Show c.653+213_653+252delTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0076 a0035c0076	a0035c0076t0010 a0035c0076t0010	a0035c0076t0010g0267 a0035c0076t0010g0267	1	308	0.0033	-40	c.653 others(55): Show c.653+254_653+293delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210188	CGTGTGTA others(33): Show CGTGTGTATATGTATATATGTATATATACACACATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0081 a0003c0081	a0003c0081t0002 a0003c0081t0002	a0003c0081t0002g0230 a0003c0081t0002g0230	1	308	0.0033	-40	c.324 others(57): Show c.3249+836_3249+875delGTGTGTATATGTATATATGTATATATAC ACACATGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACAD10_chr12_111681053_111762099	111724005	CGCTCCTC others(33): Show CGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show HG01943.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325	8	336	0.0238	-40	c.106 others(59): Show c.1061+2326_1061+2365delTGATGGCGGCCGGGAAGAGGTGCTCC TCACTTCCTAGATG	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288567	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18999.hp2 NA19087.hp1 others(1): Show HG02074.hp1 NA18999.hp2 NA19087.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0001c0001t0014 a0004c0009t0003 a0001c0001t0002 a0001c0001t0014 a0004c0009t0003	a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0014g0221 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0014g0221 a0004c0009t0003g0124	4	295	0.0136	-40	c.49 others(51): Show c.4957_*4996delGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3823		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288601	TCCGTCCC others(33): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 NA19083.hp2 HG02897.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0154 a0003c0004t0001g0211 a0001c0001t0002g0154 a0003c0004t0001g0211	2	295	0.0068	-40	c.49 others(51): Show c.4923_*4962delGGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3789		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288778	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 NA19079.hp1 NA19083.hp2 HG01516.hp2 NA19079.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0100 a0001c0001t0002g0154 a0001c0003t0002g0119 a0001c0001t0001g0100 a0001c0001t0002g0154 a0001c0003t0002g0119	3	295	0.0102	-40	c.47 others(51): Show c.4746_*4785delTCGGGGGACGGAACAGGGACACGGGGGACGGAGC AGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3612		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288799	GTCCCTGT others(33): Show GTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-40	c.47 others(51): Show c.4725_*4764delGACACGGGACGGAGCAGAGACTCGGGGGACGGAA CAGGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3591		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288908	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03516.hp2 NA19077.hp2 HG03471.hp1 HG03516.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0020 a0001c0001t0002g0153 a0001c0001t0005g0158 a0001c0001t0001g0020 a0001c0001t0002g0153 a0001c0001t0005g0158	3	295	0.0102	-40	c.46 others(51): Show c.4616_*4655delTCGGGGGACGGAACAGGGACACGGGGGACGGAGC AGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3482		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289033	TCCCCCGA others(33): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	295	0.0034	-40	c.44 others(51): Show c.4491_*4530delGGACGGAGCAGAGACACGGGACGGAGCAGAGACT CGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3357		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289062	TCTGCTCC others(33): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	295	0.0034	-40	c.44 others(51): Show c.4462_*4501delGGACACGGGGGACGGAGCAGAGACTCGGGGGACG GAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3328		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289707	TCCCGTGT others(33): Show TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG04228.hp1 HG02897.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0003c0004t0001 a0001c0001t0010 a0003c0004t0001	a0001c0001t0010g0148 a0003c0004t0001g0211 a0001c0001t0010g0148 a0003c0004t0001g0211	2	295	0.0068	-40	c.38 others(51): Show c.3817_*3856delGGACGGAGCAGAGACACGGGGGACGGAGCAGGGA CACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2683		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297665	GCGGGGCA others(33): Show GCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGCACGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02572.hp2 others(7): Show HG01109.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0006 a0001c0001t0001 a0001c0024t0006	a0001c0001t0001g0008 a0001c0001t0001g0063 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0024t0006g0072	10	295	0.0339	-40	c.112 others(57): Show c.1128+117_1128+156delTGCCCGTGCACACGTGCCACCGGGGATG GCCCCTGCCCCG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar

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Search Results (Total: 3176 hits)