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
ARPC5_chr1_183615846_183640783	183628172	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG02055.hp2 others(28): Show HG01081.hp2 HG01123.hp1 HG02055.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04228.hp1 NA18612.hp2 NA18977.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 others(6): Show a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0003t0013	a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0038 others(12): Show a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0038 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0102 a0001c0002t0012g0037 a0001c0002t0012g0103 a0001c0002t0016g0036 a0001c0002t0017g0035 a0001c0002t0021g0101 a0001c0002t0035g0100 a0001c0002t0036g0095 a0001c0002t0037g0053 a0001c0003t0013g0021	31	364	0.0852	-13	c.394 others(28): Show c.394-591_394-579delTTTTTTTTTTTTT	ARPC5	ENSG00000162704.16	transcript	ENST00000359856.11	protein_coding	3/3			chr1	TogoVar
ARPP21_chr3_35634525_35799486	35667947	AAAAGAAG others(6): Show AAAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	266	0.0038	-13	c.-21 others(34): Show c.-212-11837_-212-11825delAGAAGAAGAAGAA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRB1_chr11_75255122_75356661	75291952	AGAGAAGG others(6): Show AGAGAAGGCGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0108 a0001c0002t0015g0108	1	320	0.0031	-13	c.21- others(28): Show c.21-1926_21-1914delCACTCGCCTTCTC	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	1/15			chr11	TogoVar
ARRB1_chr11_75255122_75356661	75300210	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03130.hp2 HG03471.hp1 others(1): Show HG01891.hp1 HG03130.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0004g0198 a0001c0001t0004g0199 others(1): Show a0001c0001t0001g0086 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200	4	320	0.0125	-13	c.21- others(30): Show c.21-10184_21-10172delCTTTTTTTTTTTT	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	1/15			chr11	TogoVar
ARRDC1_chr9_137600686_137620360	137601240	TATATATA others(6): Show TATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-13	c.-44 others(24): Show c.-4477_-4465delATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4445		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601242	TATATATA others(6): Show TATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02615.hp2 HG01361.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	338	0.0059	-13	c.-44 others(24): Show c.-4475_-4463delATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4443		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601244	TATATATA others(6): Show TATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	338	0.0030	-13	c.-44 others(24): Show c.-4473_-4461delATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4441		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601246	TATATATA others(6): Show TATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-13	c.-44 others(24): Show c.-4471_-4459delATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4439		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601251	ATATATAT others(6): Show ATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	-13	c.-44 others(24): Show c.-4466_-4454delTATATATATTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4434		chr9	TogoVar
ARRDC2_chr19_18003170_18019102	18005518	ACGGGGTG others(6): Show ACGGGGTGGTGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(27): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG01167.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02293.hp1 HG03942.hp2 NA18747.hp1 NA18941.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp1 NA18970.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA19007.hp2 NA19055.hp2 NA19080.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0001 a0002c0002t0002g0004 a0002c0002t0003g0003 others(4): Show a0001c0001t0001g0001 a0002c0002t0002g0004 a0002c0002t0003g0003 a0002c0002t0003g0019 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053	30	414	0.0725	-13	c.-27 others(24): Show c.-2792_-2780delCGGGGTGGTGGCC	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		2651		chr19	TogoVar
ARSA_chr22_50617754_50633152	50628181	CGGGGCGG others(6): Show CGGGGCGGGGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0095 a0003c0003t0005g0095	1	460	0.0022	-13	c.-41 others(22): Show c.-415_-403delCCGGCCCCGCCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		30		chr22	TogoVar
ARSA_chr22_50617754_50633152	50628192	CGGGGGCG others(6): Show CGGGGGCGGGGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp1 others(138): Show HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18990.hp1 NA18992.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19059.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0016 a0003c0021 a0007c0015 a0011c0014	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0002c0002t0001 a0002c0002t0024 a0002c0002t0026 a0002c0002t0042 a0003c0003t0002 a0003c0003t0005 a0003c0003t0025 a0003c0003t0035 a0003c0003t0036 a0003c0003t0038 a0003c0003t0046 a0003c0003t0047 a0003c0003t0048 a0003c0016t0002 a0003c0021t0002 a0007c0015t0002 a0011c0014t0001	a0001c0001t0003g0003 a0001c0001t0004g0049 a0001c0001t0006g0005 others(35): Show a0001c0001t0003g0003 a0001c0001t0004g0049 a0001c0001t0006g0005 a0001c0001t0007g0011 a0001c0001t0007g0020 a0001c0001t0013g0014 a0001c0001t0015g0022 a0001c0001t0021g0028 a0001c0001t0030g0044 a0001c0001t0032g0048 a0001c0001t0040g0065 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0040 a0002c0002t0001g0069 a0002c0002t0024g0032 a0002c0002t0026g0039 a0002c0002t0042g0066 a0003c0003t0002g0002 a0003c0003t0002g0013 a0003c0003t0002g0016 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0094 a0003c0003t0005g0006 a0003c0003t0005g0068 a0003c0003t0005g0087 a0003c0003t0025g0037 a0003c0003t0035g0050 a0003c0003t0036g0051 a0003c0003t0038g0089 a0003c0003t0046g0086 a0003c0003t0047g0093 a0003c0003t0048g0090 a0003c0016t0002g0092 a0003c0021t0002g0100 a0007c0015t0002g0091 a0011c0014t0001g0075	141	460	0.3065	-13	c.-42 others(22): Show c.-426_-414delCGGCCCCGCCCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		41		chr22	TogoVar
ARSB_chr5_78772209_78990310	78818598	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG02055.hp2 others(3): Show HG00733.hp1 HG01168.hp2 HG02055.hp2 HG02572.hp2 HG02717.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0002 a0001c0003t0002 a0001c0003t0027 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0027 a0001c0015t0027	a0001c0001t0002g0261 a0001c0003t0002g0013 a0001c0003t0002g0349 others(3): Show a0001c0001t0002g0261 a0001c0003t0002g0013 a0001c0003t0002g0349 a0001c0003t0002g0351 a0001c0003t0027g0114 a0001c0015t0027g0102	6	360	0.0167	-13	c.121 others(34): Show c.1213+20745_1213+20757delAAAAAAAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78843585	TTTAAACT others(6): Show TTTAAACTGCACAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	360	0.0028	-13	c.114 others(32): Show c.1143-4172_1143-4160delCTGTGCAGTTTAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78892248	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0025	1	360	0.0028	-13	c.899 others(30): Show c.899-6434_899-6422delAAAAAAAAAAAAA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78911572	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02809.hp1 others(2): Show HG00741.hp1 HG01243.hp1 HG02809.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0031 a0001c0001t0043 others(1): Show a0001c0001t0007 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044	a0001c0001t0007g0115 a0001c0001t0007g0250 a0001c0001t0031g0324 others(2): Show a0001c0001t0007g0115 a0001c0001t0007g0250 a0001c0001t0031g0324 a0001c0001t0043g0090 a0001c0001t0044g0091	5	360	0.0139	-13	c.899 others(32): Show c.899-25758_899-25746delTTTTTTTTTTTTT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ARSG_chr17_68286495_68425814	68331249	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0161 a0001c0005t0001g0161	1	304	0.0033	-13	c.219 others(32): Show c.219-12351_219-12339delCTTTCTTTCTTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68372877	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02145.hp1 HG02071.hp2 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0133 a0004c0006t0001g0260 a0004c0006t0001g0133 a0004c0006t0001g0260	2	304	0.0066	-13	c.982 others(30): Show c.982+2373_982+2385delTTTTTTTTTTTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68412576	GGTGAATC others(6): Show GGTGAATCTGACAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	304	0.0033	-13	c.130 others(32): Show c.1304-7612_1304-7600delGTGAATCTGACAA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	11/11			chr17	TogoVar
ARSH_chrX_3001546_3039111	3008448	ATTTTCTT others(6): Show ATTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	248	0.0040	-13	c.93- others(28): Show c.93-1578_93-1566delTCTTTCTTTCTTT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3008503	TTCTTTCT others(6): Show TTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	248	0.0040	-13	c.93- others(28): Show c.93-1526_93-1514delTCTTTCTTTCTTC	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	1/8			chrX	TogoVar
ARSH_chrX_3001546_3039111	3032393	GAGGAAGG others(6): Show GAGGAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01167.hp1 others(19): Show HG00099.hp2 HG00741.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02683.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp1 HG03491.hp1 HG03492.hp1 HG06807.hp1 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0005c0008 a0007c0010	a0001c0001t0002 a0001c0002t0002 a0002c0004t0002 others(3): Show a0001c0001t0002 a0001c0002t0002 a0002c0004t0002 a0002c0006t0002 a0005c0008t0004 a0007c0010t0002	a0001c0001t0002g0123 a0001c0002t0002g0221 a0001c0002t0002g0222 others(18): Show a0001c0001t0002g0123 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0002c0004t0002g0013 a0002c0004t0002g0215 a0002c0004t0002g0217 a0002c0006t0002g0156 a0002c0006t0002g0159 a0002c0006t0002g0207 a0005c0008t0004g0212 a0005c0008t0004g0213 a0007c0010t0002g0182	22	248	0.0887	-13	c.132 others(30): Show c.1322-602_1322-590delAGGAAGGAAGGAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3035149	GGGATTAT others(6): Show GGGATTATAGGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	248	0.0040	-13	c.17 others(24): Show c.1765_*1777delGGATTATAGGCGT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1039		chrX	TogoVar
ARSI_chr5_150291343_150307905	150307339	GGGTCCAC others(6): Show GGGTCCACGCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG03453.hp1 HG02451.hp1 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	3	456	0.0066	-13	c.-49 others(24): Show c.-4979_-4967delTCCTGCGTGGACC	ARSI	ENSG00000183876.9	transcript	ENST00000328668.8	protein_coding		4435		chr5	TogoVar
ARSI_chr5_150291343_150307905	150307353	GGTCCACG others(6): Show GGTCCACGCAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02486.hp1 others(10): Show HG02109.hp1 HG02145.hp2 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0011 a0001c0001t0001 a0001c0001t0009 a0001c0002t0011	a0001c0001t0001g0001 a0001c0001t0009g0017 a0001c0002t0011g0020 a0001c0001t0001g0001 a0001c0001t0009g0017 a0001c0002t0011g0020	13	456	0.0285	-13	c.-49 others(24): Show c.-4993_-4981delTTCCTGCGTGGAC	ARSI	ENSG00000183876.9	transcript	ENST00000328668.8	protein_coding		4449		chr5	TogoVar
ARSJ_chr4_113895284_113984647	113984139	GAGATATA others(6): Show GAGATATAATATGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01346.hp1 others(28): Show HG00544.hp2 HG00558.hp2 HG01346.hp1 HG01433.hp2 HG01943.hp1 HG02148.hp1 HG02273.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2 NA18612.hp2 NA18945.hp1 NA18954.hp1 NA18971.hp2 NA18975.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0084 others(28): Show a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0005g0116 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0010g0028 a0001c0001t0010g0031 a0001c0001t0010g0039 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0028g0045 a0001c0001t0029g0047	31	350	0.0886	-13	c.-53 others(24): Show c.-5318_-5306delTCATATTATATCT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding		4493		chr4	TogoVar
ARSL_chrX_2929521_2969341	2950832	GACACAGA others(6): Show GACACAGACACACA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	328	0.0031	-13	c.431 others(30): Show c.431-1118_431-1106delTGTGTGTCTGTGT	ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	5/10			chrX	TogoVar
ART1_chr11_3640128_3669416	3663020	CTCATCTC others(6): Show CTCATCTCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0321 a0003c0003t0001g0321	1	394	0.0025	-13	c.887 others(30): Show c.887-1056_887-1044delATCTCATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARV1_chr1_230974094_231005733	230986666	CTATTTTT others(6): Show CTATTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02698.hp2 others(2): Show HG02257.hp1 HG02451.hp2 HG02698.hp2 NA18948.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0004g0250	5	402	0.0124	-13	c.175 others(30): Show c.175-1652_175-1640delATTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00735.hp1 others(40): Show HG00099.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG06807.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA19002.hp1 NA19010.hp2 NA19060.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151	43	402	0.1070	-13	c.175 others(30): Show c.175-1626_175-1614delTTTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARVCF_chr22_19964896_20021823	20006115	AGTTTTCT others(6): Show AGTTTTCTAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0134 a0005c0005t0004g0134	1	374	0.0027	-13	c.-19 others(30): Show c.-19+4327_-19+4339delCCCATTAGAAAAC	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	2/19			chr22	TogoVar
ARX_chrX_24998694_25020965	25000060	CTTCTTTT others(6): Show CTTCTTTTGAGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0038 a0004c0005t0015g0038	1	300	0.0033	-13	c.45 others(24): Show c.4597_*4609delCCTCTCAAAAGAA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		3633		chrX	TogoVar
AR_chrX_67539021_67735619	67732295	GAACTTCA others(6): Show GAACTTCAACCTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(54): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0024 a0026 a0027 a0028 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0039 a0046 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0061 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072	a0001c0001 a0002c0002 a0003c0004 others(63): Show a0001c0001 a0002c0002 a0003c0004 a0003c0077 a0004c0003 a0005c0007 a0005c0067 a0006c0016 a0007c0006 a0008c0005 a0009c0013 a0009c0025 a0010c0014 a0010c0078 a0010c0079 a0011c0008 a0012c0011 a0012c0052 a0013c0012 a0013c0064 a0014c0009 a0015c0010 a0016c0024 a0016c0058 a0017c0017 a0018c0029 a0018c0066 a0019c0018 a0020c0019 a0022c0021 a0024c0023 a0026c0051 a0027c0027 a0028c0028 a0030c0030 a0031c0082 a0032c0031 a0033c0032 a0034c0034 a0035c0035 a0036c0036 a0037c0037 a0039c0040 a0046c0050 a0049c0055 a0050c0056 a0051c0057 a0052c0059 a0053c0060 a0054c0063 a0055c0065 a0056c0061 a0057c0062 a0058c0069 a0059c0070 a0061c0071 a0062c0072 a0064c0074 a0065c0075 a0066c0076 a0067c0081 a0068c0083 a0069c0084 a0070c0085 a0071c0054 a0072c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(117): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0001t0064 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0016 a0002c0002t0063 a0003c0004t0001 a0003c0004t0003 a0003c0004t0008 a0003c0004t0012 a0003c0004t0017 a0003c0004t0022 a0003c0004t0036 a0003c0077t0060 a0004c0003t0001 a0004c0003t0002 a0004c0003t0008 a0004c0003t0009 a0004c0003t0016 a0004c0003t0030 a0005c0007t0001 a0005c0007t0002 a0005c0007t0015 a0005c0067t0015 a0006c0016t0002 a0006c0016t0003 a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0007c0006t0026 a0007c0006t0059 a0008c0005t0003 a0008c0005t0006 a0008c0005t0010 a0008c0005t0033 a0009c0013t0004 a0009c0013t0018 a0009c0013t0020 a0009c0025t0004 a0010c0014t0001 a0010c0014t0003 a0010c0014t0013 a0010c0014t0016 a0010c0078t0006 a0010c0079t0006 a0011c0008t0010 a0012c0011t0019 a0012c0011t0066 a0012c0052t0003 a0013c0012t0006 a0013c0064t0057 a0014c0009t0001 a0014c0009t0009 a0014c0009t0061 a0015c0010t0001 a0015c0010t0004 a0015c0010t0014 a0016c0024t0010 a0016c0058t0012 a0017c0017t0006 a0017c0017t0019 a0017c0017t0035 a0018c0029t0004 a0018c0029t0065 a0018c0066t0004 a0019c0018t0001 a0019c0018t0062 a0020c0019t0001 a0020c0019t0003 a0020c0019t0017 a0022c0021t0015 a0022c0021t0034 a0024c0023t0001 a0026c0051t0001 a0027c0027t0014 a0027c0027t0051 a0028c0028t0008 a0030c0030t0001 a0030c0030t0058 a0031c0082t0012 a0032c0031t0009 a0032c0031t0013 a0033c0032t0013 a0034c0034t0001 a0035c0035t0003 a0036c0036t0004 a0037c0037t0006 a0039c0040t0001 a0046c0050t0023 a0049c0055t0001 a0050c0056t0021 a0051c0057t0038 a0052c0059t0029 a0053c0060t0039 a0054c0063t0004 a0055c0065t0002 a0056c0061t0010 a0057c0062t0010 a0058c0069t0002 a0059c0070t0002 a0061c0071t0055 a0062c0072t0054 a0064c0074t0032 a0065c0075t0053 a0066c0076t0003 a0067c0081t0001 a0068c0083t0037 a0069c0084t0022 a0070c0085t0056 a0071c0054t0018 a0072c0033t0021	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 others(152): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0008g0001 a0001c0001t0008g0035 a0001c0001t0024g0030 a0001c0001t0025g0166 a0001c0001t0064g0013 a0002c0002t0001g0028 a0002c0002t0001g0057 a0002c0002t0001g0092 a0002c0002t0002g0043 a0002c0002t0003g0032 a0002c0002t0003g0061 a0002c0002t0009g0029 a0002c0002t0012g0189 a0002c0002t0012g0190 a0002c0002t0014g0027 a0002c0002t0016g0005 a0002c0002t0063g0058 a0003c0004t0001g0054 a0003c0004t0001g0056 a0003c0004t0001g0076 a0003c0004t0001g0090 a0003c0004t0003g0081 a0003c0004t0008g0041 a0003c0004t0012g0103 a0003c0004t0017g0101 a0003c0004t0022g0022 a0003c0004t0036g0170 a0003c0077t0060g0100 a0004c0003t0001g0036 a0004c0003t0001g0097 a0004c0003t0001g0109 a0004c0003t0002g0010 a0004c0003t0002g0088 a0004c0003t0002g0096 a0004c0003t0008g0059 a0004c0003t0009g0080 a0004c0003t0016g0037 a0004c0003t0030g0063 a0005c0007t0001g0048 a0005c0007t0001g0051 a0005c0007t0001g0108 a0005c0007t0002g0095 a0005c0007t0015g0110 a0005c0067t0015g0014 a0006c0016t0002g0023 a0006c0016t0003g0050 a0007c0006t0001g0102 a0007c0006t0003g0068 a0007c0006t0009g0074 a0007c0006t0009g0093 a0007c0006t0026g0094 a0007c0006t0059g0069 a0008c0005t0003g0003 a0008c0005t0006g0118 a0008c0005t0010g0003 a0008c0005t0033g0148 a0009c0013t0004g0184 a0009c0013t0018g0177 a0009c0013t0020g0173 a0009c0013t0020g0174 a0009c0025t0004g0150 a0009c0025t0004g0164 a0010c0014t0001g0070 a0010c0014t0003g0019 a0010c0014t0013g0085 a0010c0014t0016g0016 a0010c0078t0006g0183 a0010c0079t0006g0119 a0011c0008t0010g0120 a0012c0011t0019g0126 a0012c0011t0066g0117 a0012c0052t0003g0071 a0013c0012t0006g0124 a0013c0012t0006g0128 a0013c0064t0057g0053 a0014c0009t0001g0020 a0014c0009t0001g0046 a0014c0009t0009g0025 a0014c0009t0009g0038 a0014c0009t0061g0047 a0015c0010t0001g0002 a0015c0010t0001g0104 a0015c0010t0004g0175 a0015c0010t0004g0176 a0015c0010t0014g0006 a0016c0024t0010g0115 a0016c0058t0012g0107 a0017c0017t0006g0151 a0017c0017t0019g0160 a0017c0017t0035g0159 a0018c0029t0004g0182 a0018c0029t0065g0186 a0018c0066t0004g0149 a0019c0018t0001g0017 a0019c0018t0001g0031 a0019c0018t0062g0106 a0020c0019t0001g0098 a0020c0019t0003g0066 a0020c0019t0017g0077 a0022c0021t0015g0116 a0022c0021t0034g0147 a0024c0023t0001g0072 a0024c0023t0001g0187 a0026c0051t0001g0034 a0027c0027t0014g0087 a0027c0027t0051g0179 a0028c0028t0008g0011 a0028c0028t0008g0012 a0030c0030t0001g0044 a0030c0030t0058g0084 a0031c0082t0012g0021 a0032c0031t0009g0049 a0032c0031t0013g0105 a0033c0032t0013g0062 a0033c0032t0013g0089 a0034c0034t0001g0002 a0035c0035t0003g0073 a0036c0036t0004g0112 a0037c0037t0006g0178 a0039c0040t0001g0060 a0046c0050t0023g0045 a0049c0055t0001g0125 a0050c0056t0021g0162 a0051c0057t0038g0165 a0052c0059t0029g0134 a0053c0060t0039g0133 a0054c0063t0004g0181 a0055c0065t0002g0099 a0056c0061t0010g0161 a0057c0062t0010g0185 a0058c0069t0002g0033 a0059c0070t0002g0039 a0061c0071t0055g0086 a0062c0072t0054g0055 a0064c0074t0032g0180 a0065c0075t0053g0018 a0066c0076t0003g0040 a0067c0081t0001g0024 a0068c0083t0037g0152 a0069c0084t0022g0065 a0070c0085t0056g0082 a0071c0054t0018g0153 a0072c0033t0021g0163	156	193	0.8083	-13	c.84 others(24): Show c.8455_*8467delAACTTCAACCTAT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding		1677		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp1 HG02602.hp1 others(8): Show HG01099.hp1 HG01358.hp1 HG02602.hp1 NA18950.hp1 NA18953.hp2 NA18978.hp2 NA18995.hp2 NA18997.hp1 NA19060.hp1 NA19076.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0246 others(8): Show a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0340 a0001c0001t0011g0204 a0001c0001t0011g0247	11	362	0.0304	-13	c.886 others(30): Show c.886-5009_886-4997delTTTTTTTTTTTTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906265	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	362	0.0028	-13	c.55 others(24): Show c.5566_*5578delAAAAAAAAAAAAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4367		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906271	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0181 a0001c0001t0013g0181	1	362	0.0028	-13	c.55 others(24): Show c.5572_*5584delAAAAAATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4373		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50244348	TCATAAAA others(6): Show TCATAAAATTTACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02055.hp2 others(7): Show HG01109.hp1 HG01884.hp2 HG02055.hp2 HG02451.hp2 HG02559.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0018 a0001c0002 a0001c0004 a0001c0018	a0001c0002t0009 a0001c0002t0019 a0001c0002t0025 others(4): Show a0001c0002t0009 a0001c0002t0019 a0001c0002t0025 a0001c0002t0052 a0001c0002t0084 a0001c0004t0090 a0001c0018t0009	a0001c0002t0009g0272 a0001c0002t0009g0347 a0001c0002t0009g0351 others(7): Show a0001c0002t0009g0272 a0001c0002t0009g0347 a0001c0002t0009g0351 a0001c0002t0009g0352 a0001c0002t0019g0349 a0001c0002t0025g0346 a0001c0002t0052g0350 a0001c0002t0084g0354 a0001c0004t0090g0348 a0001c0018t0009g0353	10	408	0.0245	-13	c.360 others(28): Show c.360+861_360+873delGGTAAATTTTATG	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	3/20			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130060075	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01167.hp2 others(18): Show HG00673.hp1 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp1 HG03471.hp2 HG03540.hp1 HG03831.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0028 a0001c0004t0002 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005 a0002c0002t0003	a0001c0001t0001g0016 a0001c0001t0001g0221 a0001c0001t0001g0245 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0221 a0001c0001t0001g0245 a0001c0001t0002g0054 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0011g0015 a0001c0001t0028g0088 a0001c0004t0002g0151 a0001c0004t0002g0157 a0001c0004t0002g0182 a0001c0004t0002g0185 a0001c0004t0002g0189 a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293 a0002c0002t0003g0059	21	308	0.0682	-13	c.319 others(30): Show c.3192+491_3192+503delTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	28/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070998	AGAGGGGA others(6): Show AGAGGGGAGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01496.hp2 HG02145.hp1 others(1): Show HG01168.hp1 HG01496.hp2 HG02145.hp1 HG03831.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0012 a0001c0001 a0001c0004 a0004c0012	a0001c0001t0008 a0001c0004t0002 a0004c0012t0027 a0001c0001t0008 a0001c0004t0002 a0004c0012t0027	a0001c0001t0008g0017 a0001c0004t0002g0151 a0001c0004t0002g0182 others(1): Show a0001c0001t0008g0017 a0001c0004t0002g0151 a0001c0004t0002g0182 a0004c0012t0027g0233	4	308	0.0130	-13	c.270 others(32): Show c.2701+5337_2701+5349delCCCCCCTCCCCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130097126	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	308	0.0033	-13	c.240 others(32): Show c.2402-4996_2402-4984delTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130107514	AAATGTAT others(6): Show AAATGTATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0018 a0002c0003t0010g0018	1	308	0.0033	-13	c.240 others(32): Show c.2401+4567_2401+4579delACATACATACATT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130108757	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show HG01891.hp2 HG02145.hp1 HG02615.hp1 HG02698.hp1 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019	a0001c0001t0008g0011 a0001c0001t0008g0017 a0001c0001t0008g0021 others(3): Show a0001c0001t0008g0011 a0001c0001t0008g0017 a0001c0001t0008g0021 a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286	6	308	0.0195	-13	c.240 others(32): Show c.2401+3324_2401+3336delAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130151370	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03704.hp2 HG04184.hp1 others(5): Show HG02300.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA19009.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0011 a0002c0002t0003 a0002c0002t0011	a0002c0002t0003g0065 a0002c0002t0003g0113 a0002c0002t0003g0114 others(5): Show a0002c0002t0003g0065 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0122 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0257 a0002c0002t0011g0235	8	308	0.0260	-13	c.108 others(32): Show c.1080+1353_1080+1365delTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	13/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262415	AAAGAGAG others(6): Show AAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG06807.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0243 a0001c0001t0001g0016 a0001c0001t0001g0243	2	308	0.0065	-13	c.187 others(32): Show c.187-25434_187-25422delCTCTCTCTCTCTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130283583	GAAAGAAA others(6): Show GAAAGAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	308	0.0033	-13	c.187 others(32): Show c.187-46602_187-46590delTTTTTTTTTCTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130445972	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0001 a0001c0007t0007g0001	1	308	0.0033	-13	c.-25 others(24): Show c.-2553_-2541delTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2299		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9246422	AGCTACAG others(6): Show AGCTACAGGTGTGC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0185 a0001c0004t0005g0185	1	210	0.0048	-13	c.127 others(32): Show c.127-32890_127-32878delCAGGTGTGCGCTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9259553	CAGCCCAA others(6): Show CAGCCCAAAACCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(68): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18953.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19070.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0012 a0002c0001 a0002c0005 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0011 a0001c0003t0021 a0001c0004t0005 a0001c0007t0001 a0001c0007t0004 a0001c0009t0004 a0001c0012t0003 a0002c0001t0001 a0002c0001t0003 a0002c0005t0001 a0002c0008t0001 a0002c0008t0006	a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 others(68): Show a0001c0002t0001g0097 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0027 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0002t0002g0096 a0001c0002t0002g0107 a0001c0002t0002g0129 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0177 a0001c0002t0002g0187 a0001c0002t0002g0202 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0166 a0001c0002t0003g0188 a0001c0002t0008g0048 a0001c0002t0009g0031 a0001c0002t0012g0143 a0001c0002t0022g0120 a0001c0002t0023g0008 a0001c0003t0001g0029 a0001c0003t0001g0046 a0001c0003t0001g0153 a0001c0003t0001g0210 a0001c0003t0004g0011 a0001c0003t0004g0038 a0001c0003t0006g0006 a0001c0003t0006g0064 a0001c0003t0006g0065 a0001c0003t0006g0102 a0001c0003t0006g0104 a0001c0003t0006g0105 a0001c0003t0006g0135 a0001c0003t0006g0158 a0001c0003t0011g0068 a0001c0003t0021g0040 a0001c0004t0005g0010 a0001c0004t0005g0021 a0001c0004t0005g0034 a0001c0004t0005g0035 a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0144 a0001c0004t0005g0176 a0001c0007t0001g0030 a0001c0007t0004g0015 a0001c0007t0004g0154 a0001c0007t0004g0203 a0001c0009t0004g0047 a0001c0012t0003g0033 a0002c0001t0001g0012 a0002c0001t0001g0022 a0002c0001t0001g0067 a0002c0001t0001g0081 a0002c0001t0001g0106 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0140 a0002c0001t0003g0136 a0002c0005t0001g0003 a0002c0005t0001g0054 a0002c0005t0001g0098 a0002c0008t0001g0108 a0002c0008t0006g0103	71	210	0.3381	-13	c.127 others(32): Show c.127-19762_127-19750delGCCCAAAACCTTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9267897	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0113 a0002c0001t0001g0113	1	210	0.0048	-13	c.127 others(32): Show c.127-11407_127-11395delAAAAAAAAAAAAA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23464659	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01515.hp1 NA18962.hp1 HG00438.hp2 HG01515.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0101	3	346	0.0087	-13	c.130 others(30): Show c.130-8478_130-8466delTTTTTTTTTTTTT	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar

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