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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(23): Show GGAGGGGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0349 a0001c0001t0003g0349	1	446	0.0022	30	c.43+ others(45): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTCTTCTCCCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	336	0.0030	30	c.470 others(45): Show c.470-685_470-656dupCACACACACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0012	1	314	0.0032	30	c.530 others(49): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608086	A A	ATAGATAT others(23): Show ATAGATATATACATATATATGTATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	314	0.0032	30	c.478 others(47): Show c.4786-999_4786-998insGATATATATACATATATATGTATATATC TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608086	A A	ATCGATAT others(23): Show ATCGATATATACATATATATGTATATATATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp1 NA19030.hp1 others(2): Show HG02559.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(2): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205	5	314	0.0159	30	c.478 others(47): Show c.4786-999_4786-998insGATATATATACATATATATGTATATATC GA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608114	A A	ATATTTGT others(23): Show ATATTTGTATATATGTATATACATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show HG00280.hp2 HG00609.hp2 HG02083.hp2 HG02129.hp1 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169 a0001c0006t0005g0170	10	314	0.0319	30	c.478 others(49): Show c.4786-1027_4786-1026insCATATATATGTATATACATATATACA AATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(23): Show TTATATATATATATATACTTATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0150 a0003c0005t0002g0150	1	314	0.0032	30	c.478 others(49): Show c.4786-1644_4786-1643insTATATATATATAAGTATATATATATA TATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(23): Show TTATATATATATATTTTTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	314	0.0032	30	c.478 others(49): Show c.4786-1644_4786-1643insTATATATATATATAAAAATATATATA TATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCATT others(23): Show CTTTCATTCTTTCTTTCTTTCTTTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	30	c.31 others(41): Show c.3126_*3127insTTTCATTCTTTCTTTCTTTCTTTCTTCCTT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCTTTC others(23): Show TTTCTTTCATTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01358.hp2 others(23): Show HG01175.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp1 HG03654.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19070.hp1 NA19085.hp2 NA19089.hp1 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0010 a0001c0001 a0003c0003 a0006c0010	a0001c0001t0001 a0001c0001t0015 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0015 a0003c0003t0001 a0003c0003t0002 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0015g0001 a0003c0003t0001g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0015g0001 a0003c0003t0001g0001 a0003c0003t0002g0001 a0006c0010t0001g0001	26	354	0.0735	30	c.31 others(41): Show c.3127_*3128insTTCTTTCATTCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCATTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18999.hp1 NA18964.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	354	0.0057	30	c.31 others(41): Show c.3127_*3128insTTCTTTCTTTCATTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASDURF_chr2_189656459_189671401	189665608	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	340	0.0029	30	c.220 others(45): Show c.220+184_220+185insGTGTATATATATATATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASF1A_chr6_118889152_118914171	118895046	G G	GGCACTCT others(23): Show GGCACTCTCGAGAGCTCACGGTGGAGTCGCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	30	c.109 others(45): Show c.109+533_109+562dupGAGAGCTCACGGTGGAGTCGCCGCACTCTC	ASF1A	ENSG00000111875.8	transcript	ENST00000229595.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASGR2_chr17_7096326_7119822	7097672	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02257.hp1 others(1): Show HG01516.hp1 HG01517.hp1 HG02257.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 others(1): Show a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0002t0002g0108	4	432	0.0093	30	c.39 others(41): Show c.3902_*3903insCACACACACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3653		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01993.hp2 HG02074.hp1 others(4): Show HG01516.hp2 HG01993.hp2 HG02074.hp1 HG02683.hp2 NA18985.hp1 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0002g0103 a0001c0001t0003g0297 others(3): Show a0001c0001t0001g0003 a0001c0001t0002g0103 a0001c0001t0003g0297 a0001c0001t0005g0018 a0001c0001t0005g0272 a0001c0001t0005g0275	7	432	0.0162	30	c.39 others(41): Show c.3900_*3901insCACACACACACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3651		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	182	0.0055	30	c.600 others(49): Show c.6008+4161_6008+4162insATATATATATATATATATATATATAT ATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA20752.hp2 HG00621.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0045 a0001c0001t0024g0169 a0001c0001t0001g0045 a0001c0001t0024g0169	2	182	0.0110	30	c.600 others(49): Show c.6008+4157_6008+4158insATATATATATATATATATATATATAT TTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(23): Show AATATATATATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp2 HG01071.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0142 a0001c0001t0001g0145	2	182	0.0110	30	c.600 others(49): Show c.6008+4157_6008+4158insATATATATATATATATTTATATATAT ATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19012.hp1 HG02129.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0064 a0001c0001t0023g0159 a0001c0001t0001g0064 a0001c0001t0023g0159	2	182	0.0110	30	c.600 others(49): Show c.6008+4128_6008+4157dupATATATATATATATATATATATATAT ATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	330	0.0030	30	c.34 others(41): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02622.hp1 others(4): Show HG02258.hp1 HG02258.hp2 HG02622.hp1 HG02922.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0001 a0001c0003t0004 a0001c0007t0001	a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 others(4): Show a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0070 a0001c0007t0001g0125 a0001c0007t0001g0126	7	324	0.0216	30	c.48 others(41): Show c.4830_*4831insTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2869		chr12	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00642.hp2 others(19): Show HG00140.hp2 HG00621.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG02735.hp2 HG03486.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp1 NA18939.hp1 NA18945.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18995.hp1 NA19010.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0003t0001g0023	22	306	0.0719	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258686	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	306	0.0033	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATACATA TA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258688	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02683.hp2 NA18747.hp1 HG00609.hp2 HG02683.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0149	3	306	0.0098	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATACA TA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258690	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19067.hp1 HG02040.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0085 a0001c0001t0001g0088	2	306	0.0065	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA CA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMT_chrX_1610059_1648081	1613185	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	223	0.0045	30	c.-20 others(41): Show c.-2015_-2014insTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1873		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625545	G G	GAAGGAAG others(23): Show GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	223	0.0045	30	c.374 others(47): Show c.374+1147_374+1148insAAGGAAGGGAGGGAGGGAGGGAGGGAGG GA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8			chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665608	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	340	0.0029	30	c.-93 others(45): Show c.-93+184_-93+185insGTGTATATATATATATATATATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASS1_chr9_130439961_130506274	130454794	C C	CCATCCAT others(23): Show CCATCCATCACCCACCCATCCATTCACCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG03579.hp1 HG02145.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137	3	374	0.0080	30	c.174 others(45): Show c.174+429_174+430insACCCACCCATCCATTCACCCATCATCCATC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130465056	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0147 a0004c0006t0001g0147	1	374	0.0027	30	c.420 others(45): Show c.420+890_420+891insATATATATATATATTTTTTTTTTTTTTTTT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130504674	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGTTGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	374	0.0027	30	c.36 others(41): Show c.3653_*3654insGGGGGGGGGGGGGGGTTGGGGGGGGGGGGT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding		3401		chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632194	G G	GAGAGGGA others(23): Show GAGAGGGAGAGAGAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0088 a0001c0009t0008g0088	1	102	0.0098	30	c.307 others(51): Show c.3073-11752_3073-11751insTTTTCTTTCTTTCTTTCTCTCTCT CCCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19012.hp1 NA21309.hp2 HG01081.hp1 NA19012.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0009 a0001c0002t0004 a0001c0005t0005 a0001c0001t0009 a0001c0002t0004 a0001c0005t0005	a0001c0001t0009g0086 a0001c0002t0004g0043 a0001c0005t0005g0048 a0001c0001t0009g0086 a0001c0002t0004g0043 a0001c0005t0005g0048	3	102	0.0294	30	c.280 others(49): Show c.2806+6798_2806+6799insTATATATATATATATATATATATATA TATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0004 a0001c0012 a0002c0004	a0001c0012t0001 a0002c0004t0001 a0001c0012t0001 a0002c0004t0001	a0001c0012t0001g0098 a0002c0004t0001g0004 a0001c0012t0001g0098 a0002c0004t0001g0004	2	102	0.0196	30	c.159 others(49): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003953	C C	CGCGCGCG others(23): Show CGCGCGCGCGCGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	102	0.0098	30	c.159 others(49): Show c.1591+4138_1591+4139insACACACACACACACACGCGCGCGCGC GCGC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117116037	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	102	0.0098	30	c.116 others(51): Show c.1169-19887_1169-19886insATATATATATATATATATATATAT ATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120049	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	102	0.0098	30	c.116 others(51): Show c.1168+21276_1168+21277insGTATATATATATATATATATATAT ATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117147438	A A	AACACACA others(23): Show AACACACACACACACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0001 a0001c0021t0006 a0001c0003t0001 a0001c0021t0006	a0001c0003t0001g0055 a0001c0021t0006g0056 a0001c0003t0001g0055 a0001c0021t0006g0056	2	102	0.0196	30	c.101 others(49): Show c.1016-5961_1016-5960insGTGTGTGTGTGTATGTGTGTGTGTGT GTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp2 HG03540.hp2 others(1): Show HG01081.hp2 HG02004.hp2 HG03540.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0010t0004	a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0002t0001g0093 others(1): Show a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0002t0001g0093 a0001c0010t0004g0009	4	102	0.0392	30	c.631 others(49): Show c.631-10794_631-10793insTATATATATATATATATATATATATA CATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(23): Show GTATGTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	102	0.0098	30	c.631 others(49): Show c.631-10794_631-10793insTATATATATATATATATATATACATA CATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG00733.hp2 others(31): Show HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp1 HG01167.hp2 HG01192.hp2 HG01358.hp2 HG01884.hp2 HG01943.hp1 HG02056.hp2 HG02109.hp2 HG02148.hp1 HG02280.hp1 HG02523.hp1 HG02735.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp2 NA18951.hp2 NA18975.hp1 NA18977.hp2 NA19010.hp1 NA19043.hp1 NA19079.hp1 NA19089.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0006c0007 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0001t0052 a0001c0008t0030 a0002c0003t0008 a0006c0007t0001 a0007c0010t0013	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0147 others(31): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0070 a0001c0001t0004g0170 a0001c0001t0004g0185 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0009g0043 a0001c0001t0012g0161 a0001c0001t0017g0003 a0001c0001t0017g0005 a0001c0001t0018g0222 a0001c0001t0020g0030 a0001c0001t0023g0188 a0001c0001t0024g0073 a0001c0001t0026g0036 a0001c0001t0026g0037 a0001c0001t0037g0019 a0001c0001t0040g0102 a0001c0001t0052g0195 a0001c0008t0030g0093 a0002c0003t0008g0077 a0002c0003t0008g0078 a0006c0007t0001g0108 a0007c0010t0013g0008	34	222	0.1532	30	c.58- others(45): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33578458	C C	CCCGCCGC others(23): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0006 a0001c0001t0080g0006	1	220	0.0046	30	c.-16 others(39): Show c.-162_-133dupGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12	132	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp2 HG03516.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0027 a0004c0004t0078 a0001c0001t0027 a0004c0004t0078	a0001c0001t0027g0034 a0004c0004t0078g0215 a0001c0001t0027g0034 a0004c0004t0078g0215	2	220	0.0091	30	c.55- others(45): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(23): Show GTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0169 a0002c0002t0067g0169	1	220	0.0046	30	c.55- others(45): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33731020	T T	TCTTTGCT others(23): Show TCTTTGCTGGCTTTGATTAGACATTATCCAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	220	0.0046	30	c.880 others(45): Show c.880-944_880-915dupTGCTGGCTTTGATTAGACATTATCCAGCTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	360	0.0028	30	c.163 others(47): Show c.163-5869_163-5868insACACACACACACACACACACACACACAC AC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01081.hp1 others(5): Show HG00280.hp2 HG00609.hp1 HG01081.hp1 HG02818.hp2 HG03017.hp1 NA18943.hp2 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0038 a0001c0001t0002g0117 a0001c0001t0002g0118 others(5): Show a0001c0001t0002g0038 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0003g0039 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0019g0089	8	360	0.0222	30	c.163 others(47): Show c.163-5900_163-5871dupACACACACACACACACACACACACACAC AC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(23): Show AAGGAAGGAAGGAAGAAAGGAAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	246	0.0041	30	c.66 others(41): Show c.6623_*6624insCCCTTCCCTTTCCTTTCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(23): Show AAGGAAGGAAGGAAGGAAGGAAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	246	0.0041	30	c.66 others(41): Show c.6623_*6624insCCCTTCCCTTTCCTTCCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23760699	T T	TATATATA others(23): Show TATATATACACACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	246	0.0041	30	c.339 others(49): Show c.3394+1509_3394+1510insGTGTATATGTGTGTGTGTGTGTGTAT ATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27			chr2	TogoVar

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