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
ARHGEF10_chr8_1818926_1963641	1850257	C C	CAGCAAAT others(37): Show CAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0257 a0002c0033t0001g0257	1	363	0.0028	44	c.37+ others(59): Show c.37+6821_37+6822insAGCAAATGCTGAGGAGGGCGTGGGGCGACC ATGTGGACACAGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850282	G G	GCGACCAT others(37): Show GCGACCATGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0285 a0002c0028t0001g0285	1	363	0.0028	44	c.37+ others(59): Show c.37+6848_37+6849insACCATGTGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850301	C C	CAGCAAAT others(37): Show CAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0252 a0001c0004t0002g0252	1	363	0.0028	44	c.37+ others(59): Show c.37+6865_37+6866insAGCAAATGCTGAGGAGGGCGTGGGGCGACC ATGTGGACACAGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850353	C C	CGAGGAGG others(37): Show CGAGGAGGGTGTGGGGCAACCGCGTGGACACAGACGGCAAATGCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01175.hp1 HG01192.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0287 a0001c0009t0005g0326 a0001c0009t0005g0287 a0001c0009t0005g0326	2	363	0.0055	44	c.37+ others(59): Show c.37+6933_37+6934insAACCGCGTGGACACAGACGGCAAATGCTGA GGAGGGTGTGGGGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850384	G G	GGACGGCA others(37): Show GGACGGCAAATGCTGAGGAGGGTGTGGGGCAACCGCGTGGACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0295 a0001c0018t0008g0295	1	363	0.0028	44	c.37+ others(59): Show c.37+6988_37+7031dupACACAGACGGCAAATGCTGAGGAGGGTGTG GGGCAACCGCGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873435	C C	CCCGCGGG others(37): Show CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp2 NA18522.hp2 NA18906.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0011c0138 a0001c0002 a0011c0138	a0001c0002t0003 a0011c0138t0011 a0001c0002t0003 a0011c0138t0011	a0001c0002t0003g0151 a0011c0138t0011g0353 a0001c0002t0003g0151 a0011c0138t0011g0353	2	363	0.0055	44	c.680 others(61): Show c.680-3094_680-3093insTGCCGCGGGGTAGTGCACCCGCATTTCC TCGTTGCGTTGAGAGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7367819	A A	ATATATAC others(37): Show ATATATACACATATATATTTTATATATATATACACATATATATTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02896.hp1 others(2): Show HG02559.hp1 HG02572.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp2	a0002 a0030 a0002 a0030	a0002c0007 a0030c0037 a0002c0007 a0030c0037	a0002c0007t0001 a0030c0037t0001 a0002c0007t0001 a0030c0037t0001	a0002c0007t0001g0022 a0002c0007t0001g0023 a0002c0007t0001g0024 others(2): Show a0002c0007t0001g0022 a0002c0007t0001g0023 a0002c0007t0001g0024 a0002c0007t0001g0026 a0030c0037t0001g0020	5	298	0.0168	44	c.15+ others(59): Show c.15+4920_15+4921insCACATATATATTTTATATATATATACACAT ATATATTTTATATA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7410399	C C	CATATATA others(37): Show CATATATATGTATATATATGTGTGTGTGTGTGTGTATGTATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18967.hp1 NA18990.hp2 others(3): Show HG02165.hp2 NA18967.hp1 NA18990.hp2 NA19011.hp1 NA19066.hp2 NA19067.hp1	a0006 a0008 a0006 a0008	a0006c0008 a0008c0010 a0006c0008 a0008c0010	a0006c0008t0002 a0008c0010t0001 a0008c0010t0033 a0006c0008t0002 a0008c0010t0001 a0008c0010t0033	a0006c0008t0002g0287 a0008c0010t0001g0285 a0008c0010t0001g0288 others(3): Show a0006c0008t0002g0287 a0008c0010t0001g0285 a0008c0010t0001g0288 a0008c0010t0001g0289 a0008c0010t0001g0290 a0008c0010t0033g0286	6	298	0.0201	44	c.967 others(63): Show c.967+27197_967+27198insTATATATGTATATATATGTGTGTGTG TGTGTGTATGTATATATA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0047 a0002c0010t0001g0047	1	144	0.0069	44	c.355 others(63): Show c.3553-4903_3553-4902insTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0001 a0002c0042t0001	a0002c0042t0001g0064 a0002c0042t0001g0064	1	144	0.0069	44	c.355 others(63): Show c.3553-4903_3553-4902insTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARID1B_chr6_156772378_157215779	157039616	A A	ACCTACCT others(37): Show ACCTACCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0099 a0003c0010t0001g0099	1	150	0.0067	44	c.224 others(65): Show c.2248-45043_2248-45042insACCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157039674	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0020 a0001c0017t0020	a0001c0017t0020g0055 a0001c0017t0020g0055	1	150	0.0067	44	c.224 others(65): Show c.2248-44965_2248-44964insCTTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3A_chr19_921035_980939	973104	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0237 a0001c0001t0148g0237	1	364	0.0028	44	c.10 others(55): Show c.1060_*1061insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1061	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID4B_chr1_235161902_235333179	235223382	T T	TATACACG others(37): Show TATACACGTATATATATATATATACACGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	272	0.0037	44	c.971 others(59): Show c.971-123_971-122insGTATATATATATATATACGTGTATATATAT ATATATACGTGTAT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	12/23			chr1	TogoVar
ARL5C_chr17_39151894_39171161	39163345	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19001.hp2 HG02027.hp2 NA19001.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0001 a0013c0015t0002 a0001c0001t0001 a0013c0015t0002	a0001c0001t0001g0079 a0013c0015t0002g0343 a0001c0001t0001g0079 a0013c0015t0002g0343	2	410	0.0049	44	c.108 others(59): Show c.108-531_108-488dupAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	434	0.0023	44	c.62 others(55): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0031 a0001c0002t0008g0031	1	434	0.0023	44	c.62 others(55): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18984.hp1 NA18956.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0251 a0001c0002t0008g0256 a0001c0002t0002g0251 a0001c0002t0008g0256	2	434	0.0046	44	c.62 others(55): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	434	0.0023	44	c.62 others(55): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0249 a0001c0002t0002g0249	1	434	0.0023	44	c.62 others(55): Show c.6217_*6218insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 NA18972.hp2 NA18981.hp1 others(5): Show HG01346.hp1 NA18972.hp2 NA18981.hp1 NA19007.hp2 NA19056.hp2 NA19078.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0044 a0001c0001t0078 a0001c0001t0022 a0001c0001t0044 a0001c0001t0078	a0001c0001t0022g0001 a0001c0001t0022g0043 a0001c0001t0044g0005 others(2): Show a0001c0001t0022g0001 a0001c0001t0022g0043 a0001c0001t0044g0005 a0001c0001t0044g0010 a0001c0001t0078g0015	8	390	0.0205	44	c.10 others(55): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMC2_chr6_108843422_108979476	108881296	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp1 HG03239.hp2 others(1): Show HG00438.hp1 HG01069.hp1 HG03239.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0218 others(1): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0218 a0001c0001t0003g0261	4	290	0.0138	44	c.671 others(61): Show c.671+4967_671+4968insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTC	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	262	0.0038	44	c.178 others(63): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT ATATATATATATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	308	0.0033	44	c.270 others(63): Show c.2701+3523_2701+3524insGTGCGCGCGCGCGCGCGCACGCACAC GCGCACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	308	0.0033	44	c.270 others(63): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCGCACACAC ACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	308	0.0033	44	c.270 others(63): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCACACACAC ACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	308	0.0033	44	c.270 others(63): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC ACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	308	0.0033	44	c.270 others(63): Show c.2701+3523_2701+3524insGCGCGCGCGCGCACACACACACACAC ACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	308	0.0033	44	c.270 others(63): Show c.2701+3523_2701+3524insGCGCGCGCACACACACACACACACAC ACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	308	0.0033	44	c.270 others(63): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCGCGCACGCACA CGCGCACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256760	T T	TATATATA others(37): Show TATATATATATATATATATATCCTTATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	308	0.0033	44	c.187 others(63): Show c.187-19767_187-19766insGGATATATATATATATATATAAGGAT ATATATATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256760	T T	TATATATA others(37): Show TATATATATATATATATATCCTTATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	308	0.0033	44	c.187 others(63): Show c.187-19767_187-19766insGGATATATATATATATATATATAAGG ATATATATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASB5_chr4_176208673_176274222	176218765	A A	AATATATA others(37): Show AATATATATATATTTGTATGATATATAAATATATATATTTGTATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG02897.hp2 others(3): Show HG01884.hp2 HG02809.hp2 HG02897.hp2 NA18971.hp1 NA18984.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0238 others(2): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0252	6	410	0.0146	44	c.671 others(61): Show c.671-1757_671-1756insCATACAAATATATATATTTATATATCAT ACAAATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218884	A A	AATATATA others(37): Show AATATATATATTTGTATGATATATAAATATATATATATTTGTATG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp2 NA18973.hp2 others(4): Show HG00673.hp1 HG02083.hp2 NA18973.hp2 NA18998.hp1 NA19077.hp2 NA19078.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0283 a0001c0002t0001g0286 others(4): Show a0001c0002t0001g0078 a0001c0002t0001g0283 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0293 a0001c0002t0001g0295	7	410	0.0171	44	c.671 others(61): Show c.671-1876_671-1875insCATACAAATATATATATATTTATATATC ATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219287	T T	TATATATA others(37): Show TATATATATTTGTATGATATATAAATATATATGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	410	0.0024	44	c.670 others(61): Show c.670+1867_670+1868insTTATATATCATACATATATATTTATATA TCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198354	A A	AGGGGAGG others(37): Show AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	216	0.0046	44	c.311 others(61): Show c.311-1366_311-1365insCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608714	T T	TTTATACT others(37): Show TTTATACTTTATATATATATTTATTTATACTTTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG01891.hp1 others(9): Show HG00544.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02451.hp1 HG02922.hp2 HG02976.hp2 NA18747.hp1 NA18980.hp1 NA19000.hp1 NA19003.hp1 NA19043.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0004c0008 a0008c0010 a0001c0002 a0004c0008 a0008c0010	a0001c0002t0002 a0001c0002t0003 a0004c0008t0002 others(1): Show a0001c0002t0002 a0001c0002t0003 a0004c0008t0002 a0008c0010t0003	a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0093 others(9): Show a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0142 a0001c0002t0003g0114 a0001c0002t0003g0130 a0001c0002t0003g0139 a0004c0008t0002g0018 a0004c0008t0002g0020 a0008c0010t0003g0092	12	314	0.0382	44	c.478 others(63): Show c.4786-1627_4786-1626insGTATATATATATAAAGTATAAATAAA TATATATATAAAGTATAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTTCTTTCTTTCTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0001 a0001c0006t0009g0001	1	354	0.0028	44	c.31 others(55): Show c.3126_*3127insTTCCTTCCTTCCTTCCTTTCTTTCTTTCTCTTTC TTTCTTTCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	240	0.0042	44	c.708 others(63): Show c.708+21751_708+21794dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASMTL_chrX_1398139_1457909	1443684	C C	CCATCTTG others(37): Show CCATCTTGGCCATCGTGGACACACACCCCCATCGTGGACAGACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02109.hp1 HG01070.hp1 HG02109.hp1	a0001 a0003 a0001 a0003	a0001c0040 a0003c0002 a0001c0040 a0003c0002	a0001c0040t0001 a0003c0002t0001 a0001c0040t0001 a0003c0002t0001	a0001c0040t0001g0099 a0003c0002t0001g0150 a0001c0040t0001g0099 a0003c0002t0001g0150	2	185	0.0108	44	c.94- others(59): Show c.94-1368_94-1367insATGTCTGTCCACGATGGGGGTGTGTGTCCA CGATGGCCAAGATG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1647117	C C	CTTCTTTC others(37): Show CTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	223	0.0045	44	c.41 others(55): Show c.4103_*4104insTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4037		chrX	TogoVar
ASPSCR1_chr17_81972629_82022406	81997083	T T	TGCTCCGG others(37): Show TGCTCCGGGATGAGGCCGTGTCCGCTCCGGGATGAGGCCGTGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	366	0.0027	44	c.933 others(59): Show c.933+258_933+301dupCCGCTCCGGGATGAGGCCGTGTGGGCTCCG GGATGAGGCCGTGT	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	102	0.0098	44	c.280 others(63): Show c.2806+6798_2806+6799insTATATATATATATATATATATATATA TATATATACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG02109.hp2 others(4): Show HG01099.hp2 HG01109.hp2 HG02109.hp2 HG02451.hp1 HG02572.hp1 HG02886.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0006 a0001c0007t0001 a0001c0013t0009	a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0001t0002g0018 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0003g0090 a0001c0003t0006g0026 a0001c0007t0001g0010 a0001c0013t0009g0072	7	102	0.0686	44	c.159 others(63): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060434	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0080 a0001c0025t0001g0080	1	102	0.0098	44	c.127 others(65): Show c.1277-20470_1277-20469insTTCTTTCTTTCTTTCTTTCTCTCT CTCTCTCCCTTCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0024	1	102	0.0098	44	c.631 others(63): Show c.631-10794_631-10793insTATATATATATATATATATATATATA TATATATATATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	222	0.0045	44	c.58- others(59): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT ATATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(37): Show GTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19043.hp2 HG02895.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0075 a0001c0008t0081 a0001c0001t0075 a0001c0008t0081	a0001c0001t0075g0184 a0001c0008t0081g0220 a0001c0001t0075g0184 a0001c0008t0081g0220	2	220	0.0091	44	c.55- others(59): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT ATATATATATATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18993.hp1 HG01952.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0099 a0001c0001t0003g0102	2	360	0.0056	44	c.163 others(61): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23760699	T T	TATATATA others(37): Show TATATATATACACACACACACACACACACACACACATATACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01243.hp1 others(13): Show HG00741.hp2 HG01074.hp2 HG01243.hp1 HG01257.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp2 HG02818.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 NA18986.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 others(13): Show a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244	16	246	0.0650	44	c.339 others(63): Show c.3394+1509_3394+1510insGTGTGTATATGTGTGTGTGTGTGTGT GTGTGTGTGTATATATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27			chr2	TogoVar

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Search Results (Total: 4475 hits)