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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARRDC1_chr9_137600686_137620360	137601237	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	338	0.0030	-24	c.-44 others(35): Show c.-4480_-4457delTATATATATATATATATATATATT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4448		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601239	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	338	0.0030	-24	c.-44 others(35): Show c.-4478_-4455delTATATATATATATATATATATTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4446		chr9	TogoVar
ARSA_chr22_50617754_50633152	50628181	CGGGGCGG others(17): Show CGGGGCGGGGCCGGGGGCGGGGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01255.hp1 others(8): Show HG01074.hp2 HG01168.hp1 HG01255.hp1 HG01975.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 others(4): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0002c0004t0008 a0003c0003t0002 a0003c0003t0027	a0001c0001t0003g0003 a0001c0001t0013g0014 a0001c0001t0019g0026 others(4): Show a0001c0001t0003g0003 a0001c0001t0013g0014 a0001c0001t0019g0026 a0001c0001t0020g0027 a0002c0004t0008g0009 a0003c0003t0002g0002 a0003c0003t0027g0038	11	460	0.0239	-24	c.-42 others(33): Show c.-426_-403delCGGCCCCGCCCCCGGCCCCGCCCC		ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding					30		chr22	TogoVar
ARSG_chr17_68286495_68425814	68331209	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG02148.hp2 others(7): Show HG00673.hp1 HG00741.hp1 HG02148.hp2 HG02735.hp2 HG02809.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp1 NA18946.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0009 a0001c0024 others(3): Show a0001c0003 a0001c0009 a0001c0024 a0001c0027 a0002c0002 a0003c0004	a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0024t0001 a0001c0027t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001	a0001c0003t0001g0288 a0001c0003t0002g0105 a0001c0003t0002g0263 others(7): Show a0001c0003t0001g0288 a0001c0003t0002g0105 a0001c0003t0002g0263 a0001c0009t0001g0034 a0001c0024t0001g0011 a0001c0027t0001g0040 a0002c0002t0001g0186 a0002c0002t0001g0196 a0002c0002t0003g0117 a0003c0004t0001g0069	10	304	0.0329	-24	c.219 others(43): Show c.219-12371_219-12348delGTTTCTTTCTTTCTTTCTTTCTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3035337	TTTTCTCA others(17): Show TTTTCTCAAAAACAAAACAAAACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	248	0.0040	-24	c.19 others(35): Show c.1953_*1976delTTTCTCAAAAACAAAACAAAACCC		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding					1227		chrX	TogoVar
ARSJ_chr4_113895284_113984647	113924056	AATATATA others(17): Show AATATATATAAATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG04184.hp1 HG02809.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0170 a0001c0001t0007g0168 a0001c0001t0002g0170 a0001c0001t0007g0168	2	350	0.0057	-24	c.399 others(43): Show c.399-20405_399-20382delATATTTATATATATTTATATATAT		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ARSK_chr5_95550101_95610102	95572715	TTGCAGCG others(17): Show TTGCAGCGAGCCGAGATTGCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp1 others(2): Show HG02896.hp1 HG02897.hp1 HG02922.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0144 a0001c0005t0002g0145 a0001c0005t0002g0015 a0001c0005t0002g0144 a0001c0005t0002g0145	5	336	0.0149	-24	c.416 others(41): Show c.416+4672_416+4695delCGAGCCGAGATTGCACCACTGCAG		ARSK	ENSG00000164291.17	transcript	ENST00000380009.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(17): Show TGCAGCAGCAGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02886.hp1 HG01891.hp1 HG02886.hp1	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0015 a0022c0021t0034 a0022c0021t0015 a0022c0021t0034	a0022c0021t0015g0116 a0022c0021t0034g0147 a0022c0021t0015g0116 a0022c0021t0034g0147	2	193	0.0104	-24	c.216 others(31): Show c.216_239delGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln73_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1342/10667	216/2763	72/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049039	GGGGGGGC others(17): Show GGGGGGGCGCAGAGGAGAACACATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA19240.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0007 a0001c0007t0001 a0001c0007t0007	a0001c0007t0001g0037 a0001c0007t0007g0001 a0001c0007t0001g0037 a0001c0007t0007g0001	2	308	0.0065	-24	c.56 others(35): Show c.5668_*5691delAATGTGTTCTCCTCTGCGCCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					3064		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070834	AGAGAGGG others(17): Show AGAGAGGGAGAGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0124 a0002c0002t0023g0124	1	308	0.0033	-24	c.270 others(43): Show c.2701+5490_2701+5513delCCTCTCTCTCCCTCTCTCCCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153335	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(30): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01123.hp1 HG01255.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02698.hp2 HG03490.hp1 HG03669.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp1 NA18994.hp1 NA19000.hp2 NA19010.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0011t0001	a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 others(30): Show a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0003g0274 a0002c0011t0001g0074	33	308	0.1071	-24	c.101 others(41): Show c.1011-554_1011-531delCATATATATATATATATATATATA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29						chr8	TogoVar
ASB15_chr7_123596821_123644481	123620503	CATACATA others(17): Show CATACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03540.hp1 HG06807.hp1 HG01884.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0240 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0240	3	380	0.0079	-24	c.451 others(41): Show c.451+2770_451+2793delCATATATATATATATATATATATA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620507	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0220 a0002c0003t0017g0220	1	380	0.0026	-24	c.451 others(41): Show c.451+2795_451+2818delATATATATATATATATATATATAT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620532	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19005.hp1 NA18967.hp2 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0147 a0002c0003t0002g0199 a0002c0003t0002g0147 a0002c0003t0002g0199	2	380	0.0053	-24	c.451 others(41): Show c.451+2797_451+2820delATATATATATATATATATATATTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620534	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 NA19068.hp1 HG02809.hp1 HG02818.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0002 a0001c0002t0001 a0003c0005t0002	a0001c0002t0001g0166 a0001c0002t0001g0265 a0003c0005t0002g0182 a0001c0002t0001g0166 a0001c0002t0001g0265 a0003c0005t0002g0182	3	380	0.0079	-24	c.451 others(41): Show c.451+2799_451+2822delATATATATATATATATATATTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620540	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	380	0.0026	-24	c.451 others(41): Show c.451+2805_451+2828delATATATATATATATTTTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620542	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	380	0.0026	-24	c.451 others(41): Show c.451+2807_451+2830delATATATATATATTTTTTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123623931	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG02132.hp1 others(3): Show HG00280.hp2 HG00621.hp1 HG02132.hp1 HG02622.hp1 NA18948.hp2 NA19001.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0280 a0001c0002t0001g0283 a0001c0002t0001g0295 others(3): Show a0001c0002t0001g0280 a0001c0002t0001g0283 a0001c0002t0001g0295 a0001c0002t0001g0331 a0001c0002t0001g0338 a0003c0005t0001g0129	6	380	0.0158	-24	c.452 others(39): Show c.452-596_452-573delAAGAAAGAAAGAAAGAAAGAAAGA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB3_chr2_53664980_53791953	53783371	CTGTATTT others(17): Show CTGTATTTGGAAGAATCTATCTAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	350	0.0029	-24	c.-14 others(41): Show c.-14+3426_-14+3449delTTTAGATAGATTCTTCCAAATACA		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	1/9						chr2	TogoVar
ASCC1_chr10_72091032_72221276	72218157	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG03453.hp1 HG00673.hp2 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0005 a0001c0001t0001 a0004c0005t0005	a0001c0001t0001g0215 a0004c0005t0005g0023 a0001c0001t0001g0215 a0004c0005t0005g0023	2	216	0.0093	-24	c.-20 others(35): Show c.-2008_-1985delATATATATATATATATTTTTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1882		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01884.hp1 HG00423.hp1 HG00642.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0002g0012 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0002g0012	3	216	0.0139	-24	c.-20 others(35): Show c.-2012_-1989delATATATATATATATATATATTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1886		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp2 HG01943.hp2 others(13): Show HG00609.hp2 HG01496.hp2 HG01943.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA18998.hp1 NA19030.hp2 NA20300.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0007 a0001c0001 a0003c0003 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0003c0003t0001 a0007c0007t0004	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0004g0002 others(11): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0012g0017 a0003c0003t0001g0143 a0003c0003t0001g0173 a0007c0007t0004g0018	16	372	0.0430	-24	c.542 others(41): Show c.542-2354_542-2331delGTGTGTGTGTGTGTGTGTGTGTGT		ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19						chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608284	ATACTTTA others(17): Show ATACTTTATATATACCTTATATATG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0294 a0014c0024t0001g0294	1	314	0.0032	-24	c.478 others(43): Show c.4786-1220_4786-1197delCATATATAAGGTATATATAAAGTA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	314	0.0032	-24	c.478 others(43): Show c.4786-1667_4786-1644delTATATATATATATATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100739430	GGCATCAG others(17): Show GGCATCAGGATGATGCTGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0052 a0002c0003t0002g0052	1	314	0.0032	-24	c.173 others(45): Show c.1738-13751_1738-13728delGTGAGGCCAGCATCATCCTGATGC		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	340	0.0029	-24	c.220 others(39): Show c.220+147_220+170delGTATATATATATATATATATATAT		ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR2_chr17_7096326_7119822	7107745	GCACACTA others(17): Show GCACACTACACACACCGCACACGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(134): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0002c0007 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0005t0001 a0001c0009t0002 a0001c0012t0002 a0002c0007t0001 a0003c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0003g0281 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0316 a0001c0001t0005g0018 a0001c0001t0005g0267 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0009g0177 a0001c0001t0012g0053 a0001c0002t0001g0178 a0001c0005t0001g0013 a0001c0005t0001g0197 a0001c0009t0002g0027 a0001c0012t0002g0069 a0002c0007t0001g0127 a0002c0007t0001g0164 a0003c0013t0001g0198	137	432	0.3171	-24	c.409 others(37): Show c.409+67_409+90delTACGTGTGCGGTGTGTGTAGTGTG		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	5/8						chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118481	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01884.hp2 others(25): Show HG01167.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0006t0005 a0001c0006t0006 a0001c0010t0009	a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 others(17): Show a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0266 a0001c0001t0002g0103 a0001c0001t0006g0005 a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0009g0262 a0001c0001t0013g0107 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0002g0108 a0001c0006t0005g0268 a0001c0006t0006g0109 a0001c0006t0006g0110 a0001c0006t0006g0111 a0001c0010t0009g0169	28	432	0.0648	-24	c.-39 others(35): Show c.-3961_-3938delTCCTTCCTTCCTTCCTTCCTTCCT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3660		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02723.hp2 others(5): Show HG02257.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 others(5): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0163 a0001c0001t0025g0182	8	182	0.0440	-24	c.421 others(41): Show c.421-8543_421-8520delTTTTTTTTTTTTTTTTTTTTTTTT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASIC2_chr17_33008087_33298295	33268341	TCATCCAT others(17): Show TCATCCATCCATCCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18999.hp1 NA19068.hp2 HG02257.hp2 NA18999.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002	a0001c0002t0001g0112 a0002c0003t0001g0192 a0002c0003t0002g0191 a0001c0002t0001g0112 a0002c0003t0001g0192 a0002c0003t0002g0191	3	240	0.0125	-24	c.708 others(43): Show c.708+23043_708+23066delGATGGATGGATGGATGGATGGATG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33297823	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02451.hp1 others(7): Show HG01243.hp1 HG02280.hp2 HG02451.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 others(7): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0004g0011 a0001c0001t0009g0012 a0001c0001t0009g0061 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0013g0016	10	240	0.0417	-24	c.-57 others(35): Show c.-5732_-5709delATTTATTTATTTATTTATTTATTT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding					4529		chr17	TogoVar
ASMTL_chrX_1398139_1457909	1424029	TCCATCCA others(17): Show TCCATCCATCCACCCACCCACCTAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0175 a0005c0027t0001g0175	1	185	0.0054	-24	c.106 others(43): Show c.1060+1472_1060+1495delGTAGGTGGGTGGGTGGATGGATGG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	8/12						chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	340	0.0029	-24	c.-93 others(39): Show c.-93+147_-93+170delGTATATATATATATATATATATAT		ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPHD2_chr22_26424260_26450015	26438628	TATATACA others(17): Show TATATACATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	2	428	0.0047	-24	c.887 others(41): Show c.887-3825_887-3802delCATATATATATACACATACATATA		ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61561068	AAGGGAGA others(17): Show AAGGGAGAGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG02615.hp1 others(3): Show HG01081.hp1 HG01192.hp1 HG02615.hp1 HG02723.hp2 HG03540.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0007 a0004c0009t0031 a0001c0001t0001 a0001c0001t0007 a0004c0009t0031	a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0163 a0001c0001t0007g0184 a0001c0001t0007g0185 a0004c0009t0031g0253	6	258	0.0233	-24	c.143 others(43): Show c.1437+1652_1437+1675delCCCTCCCTCCCTCCCTCTCTCCCT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp1 HG02165.hp2 others(3): Show HG02080.hp1 HG02083.hp1 HG02165.hp2 NA18946.hp1 NA18979.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0001c0001t0001 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0013g0164 others(3): Show a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0002t0002g0096 a0001c0002t0002g0166	6	258	0.0233	-24	c.103 others(43): Show c.103+10051_103+10074delTTTTTTTTTTTTTTTTTTTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(8): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG02165.hp2 HG02300.hp2 HG02523.hp2 HG02647.hp1 HG02922.hp2 NA19043.hp2 NA19065.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 others(8): Show a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0014g0270	11	370	0.0297	-24	c.492 others(43): Show c.492-13675_492-13652delATATATATATATATATATATATAT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176985845	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp2 HG03041.hp2 HG01192.hp1 HG02486.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0002 a0001c0002t0014 a0002c0011t0001 a0001c0002t0002 a0001c0002t0014 a0002c0011t0001	a0001c0002t0002g0108 a0001c0002t0014g0004 a0002c0011t0001g0015 a0001c0002t0002g0108 a0001c0002t0014g0004 a0002c0011t0001g0015	3	112	0.0268	-24	c.152 others(45): Show c.1524-20632_1524-20609delGTGTGTGTGTGTGTGTGTGTGTGT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22						chr1	TogoVar
ASTN1_chr1_176856067_177169712	176991413	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAACCA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	112	0.0089	-24	c.152 others(45): Show c.1523+23354_1523+23377delTGGTTTTTTTTTTTTTTTTTTTTT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22						chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149347	ATATATAT others(17): Show ATATATATAGTAAATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0010 a0001c0012t0004g0010	1	112	0.0089	-24	c.283 others(43): Show c.283+15023_283+15046delCTATATATATATTTACTATATATA		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149461	TATATATA others(17): Show TATATATATAGTATATATATAGTAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0046 a0002c0007t0001g0046	1	112	0.0089	-24	c.283 others(43): Show c.283+14909_283+14932delTTACTATATATATACTATATATAT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116502714	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01169.hp1 others(6): Show HG00735.hp1 HG01109.hp1 HG01169.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0033 a0001c0002t0001g0093 a0001c0003t0001g0055 a0001c0007t0001g0011	9	102	0.0882	-24	c.335 others(45): Show c.3356-15238_3356-15215delATTCATTCCTTCCTTCCTTCCTTC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530128	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp1 HG02698.hp2 others(4): Show HG02109.hp1 HG02698.hp1 HG02698.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0008 a0001c0001t0015 a0001c0002t0003 others(3): Show a0001c0001t0008 a0001c0001t0015 a0001c0002t0003 a0001c0003t0001 a0001c0003t0012 a0002c0004t0001	a0001c0001t0008g0065 a0001c0001t0015g0045 a0001c0002t0003g0021 others(4): Show a0001c0001t0008g0065 a0001c0001t0015g0045 a0001c0002t0003g0021 a0001c0002t0003g0041 a0001c0003t0001g0038 a0001c0003t0012g0001 a0002c0004t0001g0004	7	102	0.0686	-24	c.335 others(45): Show c.3356-42652_3356-42629delTTATATATATATATATATATATAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116607670	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03471.hp1 NA18906.hp1 others(1): Show HG01496.hp1 HG03471.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0015 a0001c0003t0002 others(1): Show a0001c0001t0006 a0001c0001t0015 a0001c0003t0002 a0001c0003t0006	a0001c0001t0006g0079 a0001c0001t0015g0045 a0001c0003t0002g0044 others(1): Show a0001c0001t0006g0079 a0001c0001t0015g0045 a0001c0003t0002g0044 a0001c0003t0006g0017	4	102	0.0392	-24	c.335 others(45): Show c.3355+10630_3355+10653delGTGTGTGTGTGTGTGTGTGTGTGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790966	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0017 a0001c0003t0006g0017	1	102	0.0098	-24	c.239 others(45): Show c.2396+14642_2396+14665delTTTCTTTCTTTCTTTCTTTCTTTC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016600	ATATCTAT others(17): Show ATATCTATATCTATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0010 a0001c0007t0001g0010	1	102	0.0098	-24	c.142 others(43): Show c.1424-8365_1424-8342delGATAGATAGATATAGATATAGATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016610	CTATATCT others(17): Show CTATATCTATCTATCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	102	0.0098	-24	c.142 others(43): Show c.1424-8375_1424-8352delTATATATATAGATAGATAGATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117045967	TGTATGTA others(17): Show TGTATGTATGTATGTACGTACGTAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	102	0.0098	-24	c.127 others(43): Show c.1277-6026_1277-6003delGTACGTACGTACATACATACATAC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060320	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	102	0.0098	-24	c.127 others(45): Show c.1277-20379_1277-20356delCTCTTTCTTTCTTTCTTTCTTTCT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32418809	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0099 a0003c0004t0003g0099	1	282	0.0036	-24	c.253 others(41): Show c.253-9301_253-9278delTTTTTTTTTTTTTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar

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