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
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(15): Show TTATATATATATATTTTTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(6): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG02074.hp2 HG02647.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0084 a0001c0002t0003g0102 a0001c0002t0003g0106 others(6): Show a0001c0002t0002g0084 a0001c0002t0003g0102 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0118 a0001c0002t0003g0137 a0001c0002t0003g0140	9	314	0.0287	22	c.478 others(41): Show c.4786-1644_4786-1643insTATATAAAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100744274	C C	CTGGGAAG others(15): Show CTGGGAAGGAGAATGGAGGAGTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0055 a0004c0008t0003g0055	1	314	0.0032	22	c.173 others(43): Show c.1738-18593_1738-18572dupTACTCCTCCATTCTCCTTCCCA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962372	T T	TTTTCTTT others(15): Show TTTTCTTTCTTTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	22	c.30 others(33): Show c.3058_*3059insTTTCTTTCTTTTTCTTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1860		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCATTC others(15): Show TTTCATTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19084.hp1 NA19006.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	354	0.0057	22	c.31 others(33): Show c.3127_*3128insTTCATTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962448	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTCCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01069.hp1 others(43): Show HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01069.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01943.hp1 HG02109.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02630.hp2 HG02735.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp2 HG03490.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18943.hp1 NA18948.hp2 NA18961.hp2 NA18970.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp2 NA19078.hp1 NA19084.hp2 NA19088.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0013 a0010c0022	a0001c0001t0001 a0001c0001t0026 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0026 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0020 a0004c0013t0001 a0010c0022t0022	a0001c0001t0001g0001 a0001c0001t0026g0001 a0002c0002t0002g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0026g0001 a0002c0002t0002g0001 a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0020g0001 a0004c0013t0001g0001 a0010c0022t0022g0003	46	354	0.1299	22	c.31 others(33): Show c.3134_*3135insTCTTTCTTTCTTCCTTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1936		chr12	TogoVar
ASGR2_chr17_7096326_7119822	7097670	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	432	0.0046	22	c.39 others(33): Show c.3904_*3905insCACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3655		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097674	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	432	0.0023	22	c.39 others(33): Show c.3900_*3901insCACACACACACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3651		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155411582	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19009.hp1 homoSapiens_chm13v2.hp1 HG02257.hp2 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0025g0182 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0025g0182	3	182	0.0165	22	c.600 others(41): Show c.6008+4161_6008+4162insATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(15): Show AATAAATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19067.hp1 HG01192.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0052 a0001c0001t0001g0112	2	182	0.0110	22	c.600 others(41): Show c.6008+4157_6008+4158insATATATATATATATTTATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(15): Show AATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	182	0.0055	22	c.600 others(41): Show c.6008+4157_6008+4158insATATATATATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18939.hp1 HG03942.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0033 a0001c0001t0001g0047	2	182	0.0110	22	c.600 others(41): Show c.6008+4136_6008+4157dupATATATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTCTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	330	0.0030	22	c.34 others(33): Show c.3420_*3421insTGTGTGTGTGTCTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	330	0.0030	22	c.34 others(33): Show c.3420_*3421insTGTGTGTGTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC2_chr17_33008087_33298295	33032440	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	240	0.0042	22	c.988 others(39): Show c.988-4070_988-4049dupAAAAAAAAAAAAAAAAAAAAAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33087575	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	240	0.0042	22	c.987 others(39): Show c.987+1287_987+1288insAAAAAAAAAAAAAAAAAAAAAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG00741.hp1 others(17): Show HG00099.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01255.hp2 HG02074.hp2 HG02683.hp1 HG02818.hp2 HG03831.hp1 HG04204.hp2 HG04228.hp2 NA18961.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA19067.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0033 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0091 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0246	20	306	0.0654	22	c.-10 others(39): Show c.-10-1674_-10-1673insTATATATATATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMT_chrX_1610059_1648081	1613197	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	223	0.0045	22	c.-20 others(33): Show c.-2003_-2002insTCTTTCTTTCTTTCTTTCTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1861		chrX	TogoVar
ASMT_chrX_1610059_1648081	1613199	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	223	0.0045	22	c.-20 others(33): Show c.-2001_-2000insTTTCTTTCTTTCTTTCTTTCTT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1859		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625546	G G	GAGGGAGG others(15): Show GAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0045 a0005c0016t0001g0045	1	223	0.0045	22	c.374 others(39): Show c.374+1169_374+1170insAAGGGAGGGAGGGAGGGAGGGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1625551	A A	AGGGAGGG others(15): Show AGGGAGGGAGGGAGGGAAAGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	223	0.0045	22	c.374 others(39): Show c.374+1169_374+1170insAAGGGGGGGAGGGAGGGAGGGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01975.hp2 HG01993.hp1 HG01123.hp2 HG01975.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	3	436	0.0069	22	c.249 others(37): Show c.249+367_249+388dupCACACACACACACACACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPG_chr14_104080700_104120582	104085404	C C	CGCCCCGC others(15): Show CGCCCCGCCCCGCACCCCGCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0166 a0002c0003t0011g0166	1	368	0.0027	22	c.-36 others(31): Show c.-367_-366insGCCCCGCCCCGCACCCCGCCAG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		295		chr14	TogoVar
ASPG_chr14_104080700_104120582	104085436	C C	CGCACCCC others(15): Show CGCACCCCGCCAGGCCCCGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02257.hp2 HG01255.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	2	368	0.0054	22	c.-33 others(31): Show c.-335_-334insGCACCCCGCCAGGCCCCGCCCG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		263		chr14	TogoVar
ASPHD2_chr22_26424260_26450015	26438582	C C	CATACATA others(15): Show CATACATATATACACATACATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03492.hp2 HG03710.hp1 others(1): Show HG01993.hp2 HG03492.hp2 HG03710.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	428	0.0094	22	c.887 others(39): Show c.887-3866_887-3865insCACATACATATATACATATATA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61539697	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	258	0.0039	22	c.176 others(41): Show c.1764+8373_1764+8374insACACACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG02074.hp1 others(7): Show HG01074.hp2 HG01167.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp1 HG02280.hp2 HG03239.hp1 HG03704.hp1 HG03942.hp2 NA19006.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0008c0014 a0001c0001 a0001c0006 a0008c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0006t0014 a0008c0014t0004	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0187 a0001c0001t0004g0227 a0001c0001t0029g0195 a0001c0006t0014g0003 a0008c0014t0004g0239	10	258	0.0388	22	c.176 others(41): Show c.1764+8350_1764+8371dupACACACACACACACACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG01168.hp2 others(18): Show HG00099.hp2 HG00609.hp1 HG01168.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp1 HG02004.hp1 HG02004.hp2 HG02165.hp2 HG03225.hp2 HG03688.hp1 HG03704.hp2 HG04228.hp1 NA18612.hp1 NA18966.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp2 NA19057.hp2 NA19063.hp2 NA19086.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0015 a0023 a0033	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0009c0015 a0015c0018 a0023c0046 a0033c0043	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0008t0001 a0002c0002t0007 a0009c0015t0001 a0015c0018t0001 a0023c0046t0001 a0033c0043t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0009g0217 a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0202 a0001c0003t0001g0215 a0001c0008t0001g0130 a0002c0002t0007g0157 a0009c0015t0001g0102 a0015c0018t0001g0032 a0023c0046t0001g0131 a0033c0043t0001g0097	21	296	0.0710	22	c.-18 others(33): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPSCR1_chr17_81972629_82022406	81997105	C C	CGCTCCGG others(15): Show CGCTCCGGGATGAGGCCGTGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(147): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0010 a0011	a0001c0003 a0001c0008 a0002c0002 others(6): Show a0001c0003 a0001c0008 a0002c0002 a0002c0005 a0002c0013 a0003c0006 a0007c0016 a0010c0018 a0011c0019	a0001c0003t0001 a0001c0008t0002 a0002c0002t0001 others(6): Show a0001c0003t0001 a0001c0008t0002 a0002c0002t0001 a0002c0005t0001 a0002c0013t0001 a0003c0006t0001 a0007c0016t0001 a0010c0018t0001 a0011c0019t0001	a0001c0003t0001g0003 a0001c0003t0001g0199 a0001c0008t0002g0009 others(131): Show a0001c0003t0001g0003 a0001c0003t0001g0199 a0001c0008t0002g0009 a0001c0008t0002g0211 a0001c0008t0002g0212 a0001c0008t0002g0213 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0049 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0168 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0005t0001g0196 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0210 a0002c0005t0001g0228 a0002c0005t0001g0229 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0278 a0002c0005t0001g0280 a0002c0005t0001g0306 a0002c0005t0001g0307 a0002c0013t0001g0031 a0002c0013t0001g0292 a0003c0006t0001g0030 a0003c0006t0001g0223 a0003c0006t0001g0240 a0003c0006t0001g0241 a0003c0006t0001g0243 a0003c0006t0001g0294 a0007c0016t0001g0231 a0007c0016t0001g0232 a0010c0018t0001g0282 a0011c0019t0001g0308	150	366	0.4098	22	c.933 others(37): Show c.933+280_933+301dupGGGCTCCGGGATGAGGCCGTGT	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	370	0.0027	22	c.491 others(39): Show c.491+5679_491+5700dupCACACACACACACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03453.hp1 HG02895.hp2 HG02896.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0165	3	374	0.0080	22	c.-6+ others(37): Show c.-6+3428_-6+3429insGCACACACACACACACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02055.hp1 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0012 a0001c0009 a0001c0012	a0001c0009t0004 a0001c0012t0004 a0001c0009t0004 a0001c0012t0004	a0001c0009t0004g0024 a0001c0012t0004g0010 a0001c0009t0004g0024 a0001c0012t0004g0010	2	112	0.0179	22	c.267 others(43): Show c.2671+11574_2671+11595dupTTTTTTTTTTTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116446255	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	102	0.0098	22	c.349 others(41): Show c.3498-3703_3498-3702insTATCTCTCTCTCTCTCTCTCTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116462787	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	102	0.0098	22	c.349 others(43): Show c.3498-20235_3498-20234insACACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	102	0.0098	22	c.335 others(41): Show c.3356-2794_3356-2773dupTTTTTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586833	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG03041.hp2 others(2): Show HG01109.hp2 HG01884.hp1 HG03041.hp2 HG03130.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0021 others(1): Show a0001c0001 a0001c0003 a0001c0021 a0002c0004	a0001c0001t0006 a0001c0001t0011 a0001c0003t0006 others(2): Show a0001c0001t0006 a0001c0001t0011 a0001c0003t0006 a0001c0021t0006 a0002c0004t0006	a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0003t0006g0026 others(2): Show a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0003t0006g0026 a0001c0021t0006g0056 a0002c0004t0006g0003	5	102	0.0490	22	c.335 others(43): Show c.3355+31490_3355+31491insATGTGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp2 NA19065.hp1 others(1): Show HG02004.hp1 HG02004.hp2 NA19065.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 a0001c0002 a0001c0009 a0001c0010	a0001c0002t0003 a0001c0002t0010 a0001c0009t0004 others(1): Show a0001c0002t0003 a0001c0002t0010 a0001c0009t0004 a0001c0010t0004	a0001c0002t0003g0022 a0001c0002t0010g0064 a0001c0009t0004g0032 others(1): Show a0001c0002t0003g0022 a0001c0002t0010g0064 a0001c0009t0004g0032 a0001c0010t0004g0009	4	102	0.0392	22	c.280 others(41): Show c.2806+6798_2806+6799insTATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01891.hp1 HG02559.hp1 others(4): Show HG01256.hp2 HG01891.hp1 HG02559.hp1 HG03471.hp1 NA19012.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 others(4): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002 a0001c0002t0004 a0001c0003t0007	a0001c0001t0006g0016 a0001c0001t0007g0087 a0001c0001t0015g0045 others(4): Show a0001c0001t0006g0016 a0001c0001t0007g0087 a0001c0001t0015g0045 a0001c0001t0016g0075 a0001c0002t0002g0023 a0001c0002t0004g0043 a0001c0003t0007g0074	7	102	0.0686	22	c.188 others(43): Show c.1889+41207_1889+41228dupAAAAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG02615.hp2 others(7): Show HG01243.hp2 HG01261.hp2 HG02615.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp1 HG03540.hp2 NA19030.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0002c0004 a0007c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0008t0005 a0001c0014t0017 a0002c0004t0002 a0002c0004t0005 a0007c0018t0003	a0001c0001t0002g0051 a0001c0001t0005g0035 a0001c0001t0005g0096 others(7): Show a0001c0001t0002g0051 a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0006g0016 a0001c0002t0001g0036 a0001c0008t0005g0073 a0001c0014t0017g0050 a0002c0004t0002g0005 a0002c0004t0005g0006 a0007c0018t0003g0031	10	102	0.0980	22	c.159 others(41): Show c.1591+4540_1591+4561dupACACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003951	C C	CGTGCGCG others(15): Show CGTGCGCGCGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	102	0.0098	22	c.159 others(41): Show c.1591+4140_1591+4141insACACACACACACGCGCGCGCAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060393	A A	AGGAAGGA others(15): Show AGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	102	0.0098	22	c.127 others(43): Show c.1277-20429_1277-20428insCCTTCCTTCCTTCCTTCCTTCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117108438	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19010.hp1 HG02896.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0033 a0001c0002t0001g0042	2	102	0.0196	22	c.116 others(43): Show c.1169-12309_1169-12288dupGTGTGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117116037	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18959.hp1 NA19010.hp2 HG04199.hp1 NA18959.hp1 NA19010.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0010 a0003c0019 a0005c0015 a0001c0010 a0003c0019 a0005c0015	a0001c0010t0001 a0003c0019t0002 a0005c0015t0003 a0001c0010t0001 a0003c0019t0002 a0005c0015t0003	a0001c0010t0001g0102 a0003c0019t0002g0025 a0005c0015t0003g0019 a0001c0010t0001g0102 a0003c0019t0002g0025 a0005c0015t0003g0019	3	102	0.0294	22	c.116 others(43): Show c.1169-19887_1169-19886insATATATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0087 a0001c0001t0011g0002 a0001c0001t0007g0087 a0001c0001t0011g0002	2	102	0.0196	22	c.116 others(43): Show c.1168+21307_1168+21308insTATATATATATATACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0097 a0001c0011t0004g0097	1	102	0.0098	22	c.116 others(43): Show c.1168+21307_1168+21308insTATATATATATACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	102	0.0098	22	c.631 others(41): Show c.631-10815_631-10794dupTATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(15): Show GTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp2 HG01256.hp1 others(2): Show HG01099.hp1 HG01169.hp2 HG01256.hp1 HG02698.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0017t0002	a0001c0001t0001g0054 a0001c0002t0003g0021 a0001c0002t0003g0041 others(2): Show a0001c0001t0001g0054 a0001c0002t0003g0021 a0001c0002t0003g0041 a0001c0002t0004g0092 a0001c0017t0002g0089	5	102	0.0490	22	c.631 others(41): Show c.631-10794_631-10793insTATATATATATATATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32377972	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp1 HG02615.hp2 others(13): Show HG00544.hp1 HG01243.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03688.hp2 HG03927.hp1 NA18975.hp1 NA18979.hp1 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19084.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0001c0002t0005 a0001c0002t0018 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0018 a0003c0004t0003	a0001c0002t0002g0021 a0001c0002t0002g0030 a0001c0002t0002g0196 others(13): Show a0001c0002t0002g0021 a0001c0002t0002g0030 a0001c0002t0002g0196 a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0005g0024 a0001c0002t0005g0224 a0001c0002t0018g0022 a0003c0004t0003g0099 a0003c0004t0003g0100	16	282	0.0567	22	c.252 others(39): Show c.252+8859_252+8880dupGTGTGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32378158	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0185	1	282	0.0036	22	c.252 others(39): Show c.252+9051_252+9072dupGTGTGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32418809	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	282	0.0036	22	c.253 others(39): Show c.253-9299_253-9278dupTTTTTTTTTTTTTTTTTTTTTT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25786243	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	222	0.0045	22	c.403 others(41): Show c.403+13141_403+13142insAAAAAAAAAAAAAAAAAAAAAA	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar

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