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
ATXN2_chr12_111447214_111604315	111553604	A A	AAATTTTT others(4): Show AAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03492.hp1 others(5): Show HG02965.hp1 HG03098.hp1 HG03492.hp1 HG04204.hp1 NA18992.hp2 NA19004.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0223 a0001c0001t0002g0236 a0001c0001t0004g0227 others(5): Show a0001c0001t0002g0223 a0001c0001t0002g0236 a0001c0001t0004g0227 a0001c0001t0004g0295 a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 a0001c0001t0006g0279	8	298	0.0269	11	c.348 others(26): Show c.348+553_348+554insAAAAAAAAATT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AATTTTTT others(4): Show AATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03654.hp1 HG03041.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0282 a0001c0001t0006g0257 a0001c0001t0002g0282 a0001c0001t0006g0257	2	298	0.0067	11	c.348 others(26): Show c.348+553_348+554insAAAAAAAAAAT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111584377	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19080.hp1 HG02965.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0287 a0001c0001t0006g0265 a0001c0001t0002g0287 a0001c0001t0006g0265	2	298	0.0067	11	c.251 others(30): Show c.251+14396_251+14406dupTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	298	0.0034	11	c.251 others(28): Show c.251+9782_251+9792dupTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01943.hp2 HG02109.hp2 others(10): Show HG01258.hp2 HG01943.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA20300.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0019	a0003c0004 a0003c0005 a0003c0007 others(4): Show a0003c0004 a0003c0005 a0003c0007 a0003c0014 a0006c0010 a0007c0015 a0019c0027	a0003c0004t0003 a0003c0005t0003 a0003c0007t0003 others(4): Show a0003c0004t0003 a0003c0005t0003 a0003c0007t0003 a0003c0014t0003 a0006c0010t0003 a0007c0015t0005 a0019c0027t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(10): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0108 a0003c0005t0003g0202 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0014t0003g0003 a0006c0010t0003g0112 a0007c0015t0005g0004 a0019c0027t0003g0207	13	298	0.0436	11	c.251 others(28): Show c.251+5991_251+6001dupTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92086253	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02145.hp1 others(5): Show HG01243.hp2 HG01884.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02698.hp2 HG03831.hp2 HG03927.hp2	a0007 a0010 a0012 others(2): Show a0007 a0010 a0012 a0023 a0025	a0007c0010 a0010c0011 a0012c0016 others(2): Show a0007c0010 a0010c0011 a0012c0016 a0023c0041 a0025c0027	a0007c0010t0019 a0007c0010t0051 a0010c0011t0006 others(5): Show a0007c0010t0019 a0007c0010t0051 a0010c0011t0006 a0010c0011t0019 a0012c0016t0045 a0023c0041t0006 a0025c0027t0023 a0025c0027t0050	a0007c0010t0019g0151 a0007c0010t0051g0125 a0010c0011t0006g0275 others(5): Show a0007c0010t0019g0151 a0007c0010t0051g0125 a0010c0011t0006g0275 a0010c0011t0019g0141 a0012c0016t0045g0015 a0023c0041t0006g0383 a0025c0027t0023g0384 a0025c0027t0050g0385	8	402	0.0199	11	c.475 others(28): Show c.475+2466_475+2476dupTTTTTTTTTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	6/10			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01243.hp1 others(7): Show HG00735.hp1 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG02135.hp1 HG02165.hp1 HG06807.hp1 NA19079.hp2 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023	a0001c0001t0001g0214 a0001c0001t0002g0016 a0001c0001t0002g0049 others(7): Show a0001c0001t0001g0214 a0001c0001t0002g0016 a0001c0001t0002g0049 a0001c0001t0002g0239 a0001c0001t0004g0198 a0001c0001t0009g0055 a0001c0001t0013g0251 a0001c0001t0015g0060 a0001c0001t0015g0193 a0001c0001t0023g0247	10	252	0.0397	11	c.151 others(30): Show c.1517+1049_1517+1059dupAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619531	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	252	0.0040	11	c.151 others(28): Show c.1517+668_1517+669insTATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641212	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	252	0.0040	11	c.862 others(28): Show c.862+1625_862+1626insAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641214	C C	CTCTCTCT others(4): Show CTCTCTCTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0051 a0001c0001t0010g0051	1	252	0.0040	11	c.862 others(28): Show c.862+1623_862+1624insAAAAAGAGAGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641214	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01255.hp1 HG00741.hp2 HG01192.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 a0001c0001t0004 a0001c0001t0019 a0001c0001t0020	a0001c0001t0004g0128 a0001c0001t0019g0062 a0001c0001t0020g0120 a0001c0001t0004g0128 a0001c0001t0019g0062 a0001c0001t0020g0120	3	252	0.0119	11	c.862 others(28): Show c.862+1623_862+1624insAAAAAAAAAGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00735.hp2 others(31): Show HG00558.hp2 HG00673.hp1 HG00735.hp2 HG01109.hp2 HG01433.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp2 HG02738.hp1 HG03098.hp2 HG03239.hp1 HG03516.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18971.hp1 NA18971.hp2 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0001c0012 others(1): Show a0001c0001 a0001c0008 a0001c0012 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0040 a0001c0001t0050 a0001c0001t0063 a0001c0008t0014 a0001c0012t0003 a0005c0011t0008	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0085 others(31): Show a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0085 a0001c0001t0001g0163 a0001c0001t0002g0002 a0001c0001t0002g0162 a0001c0001t0002g0231 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0004g0124 a0001c0001t0006g0022 a0001c0001t0006g0034 a0001c0001t0006g0117 a0001c0001t0007g0223 a0001c0001t0008g0175 a0001c0001t0009g0020 a0001c0001t0010g0032 a0001c0001t0010g0093 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0152 a0001c0001t0012g0052 a0001c0001t0013g0251 a0001c0001t0014g0233 a0001c0001t0016g0136 a0001c0001t0019g0230 a0001c0001t0024g0077 a0001c0001t0040g0207 a0001c0001t0050g0155 a0001c0001t0063g0041 a0001c0008t0014g0165 a0001c0012t0003g0047 a0005c0011t0008g0092	34	252	0.1349	11	c.356 others(28): Show c.356-5827_356-5817dupTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0031 a0006c0010t0031	a0006c0010t0031g0204 a0006c0010t0031g0204	1	252	0.0040	11	c.356 others(30): Show c.356-57283_356-57273dupTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01099.hp1 others(30): Show HG00558.hp1 HG00558.hp2 HG01099.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02165.hp2 HG02630.hp1 HG02647.hp1 HG02735.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18962.hp1 NA18989.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19068.hp1 NA19088.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0049 a0001c0001t0063	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0102 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0102 a0001c0001t0001g0185 a0001c0001t0002g0010 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0003g0050 a0001c0001t0003g0090 a0001c0001t0004g0211 a0001c0001t0005g0159 a0001c0001t0005g0248 a0001c0001t0006g0001 a0001c0001t0007g0223 a0001c0001t0008g0216 a0001c0001t0009g0013 a0001c0001t0009g0103 a0001c0001t0010g0093 a0001c0001t0011g0152 a0001c0001t0012g0115 a0001c0001t0016g0139 a0001c0001t0017g0113 a0001c0001t0017g0213 a0001c0001t0029g0215 a0001c0001t0035g0151 a0001c0001t0041g0196 a0001c0001t0042g0161 a0001c0001t0043g0105 a0001c0001t0049g0148 a0001c0001t0063g0041	33	252	0.1310	11	c.355 others(30): Show c.355+60826_355+60836dupTATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727769	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0063 a0001c0001t0019g0063	1	252	0.0040	11	c.355 others(30): Show c.355+60834_355+60835insTATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860128	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	252	0.0040	11	c.250 others(30): Show c.250+15683_250+15684insATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L2_chr1_109478905_109497734	109482858	C C	CGGCGGGG others(4): Show CGGCGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01891.hp1 NA19030.hp2 HG01099.hp1 HG01891.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	3	332	0.0090	11	c.-10 others(22): Show c.-1096_-1095insGGCGGGGGGGG	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1046		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(4): Show CGGGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG01952.hp1 others(15): Show HG01081.hp1 HG01433.hp1 HG01952.hp1 HG02523.hp2 HG02602.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 NA19011.hp2 NA19066.hp1 NA19080.hp1 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0007c0012t0002 a0001c0001t0001 a0001c0001t0002 a0007c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0002g0003 a0007c0012t0002g0019	18	332	0.0542	11	c.-10 others(22): Show c.-1093_-1092insGGGGGGGGCGG	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(4): Show CGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00735.hp2 others(10): Show HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01258.hp2 HG01884.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02630.hp2 HG04199.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0024	13	332	0.0392	11	c.-10 others(22): Show c.-1093_-1092insGGGGGGGGGCG	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482862	G G	GGGGGGGG others(4): Show GGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02922.hp2 others(3): Show HG02258.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	6	332	0.0181	11	c.-10 others(22): Show c.-1092_-1091insGGGGGGGGGGC	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1042		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482863	G G	GGGGGGGG others(4): Show GGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	332	0.0030	11	c.-10 others(22): Show c.-1091_-1090insGGGGGGGGGGC	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1041		chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02273.hp2 HG02698.hp2 others(1): Show HG01256.hp1 HG02273.hp2 HG02698.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0000 a0001c0001t0024g0000 a0001c0001t0001g0000 a0001c0001t0024g0000	4	408	0.0098	11	c.-14 others(22): Show c.-1443_-1442insTTTTTTTTTTT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0291	1	300	0.0033	11	c.499 others(26): Show c.499+373_499+383dupTTTTTTTTTTT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91212662	T T	TATCAGTA others(4): Show TATCAGTAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00673.hp1 others(33): Show HG00408.hp2 HG00609.hp2 HG00673.hp1 HG01255.hp1 HG01256.hp1 HG01361.hp1 HG02155.hp1 HG02280.hp1 HG02717.hp2 HG03195.hp1 HG03209.hp1 HG06807.hp1 NA18946.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18968.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0066 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0003g0075	36	358	0.1006	11	c.16 others(22): Show c.1685_*1686insTGTTTACTGAT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding		1160		chr9	TogoVar
AUNIP_chr1_25829006_25864457	25848085	C C	CTCAAATA others(4): Show CTCAAATACATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp1 HG02886.hp2 others(3): Show HG01099.hp1 HG02622.hp1 HG02886.hp2 HG02896.hp2 HG03209.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0011 a0002c0002t0004g0071 a0002c0002t0004g0072 others(1): Show a0002c0002t0004g0011 a0002c0002t0004g0071 a0002c0002t0004g0072 a0002c0002t0004g0073	6	352	0.0171	11	c.79- others(28): Show c.79-10532_79-10531insAATGTATTTGA	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AUTS2_chr7_69593475_70798506	69614365	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0072 a0001c0001t0023g0072	1	76	0.0132	11	c.309 others(30): Show c.309+14405_309+14406insCTTTCTTTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69729994	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	76	0.0132	11	c.309 others(32): Show c.309+130047_309+130057dupTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69730019	T T	TTTTTTTT others(4): Show TTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02886.hp2 others(2): Show HG02055.hp2 HG02622.hp1 HG02886.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010	a0001c0001t0009 a0001c0003t0027 a0002c0002t0031 others(1): Show a0001c0001t0009 a0001c0003t0027 a0002c0002t0031 a0002c0010t0033	a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 others(2): Show a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 a0002c0002t0031g0007 a0002c0010t0033g0014	5	76	0.0658	11	c.309 others(32): Show c.309+130057_309+130058insTTTTTTTTTTA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69930519	C C	CATTAGTT others(4): Show CATTAGTTACTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG03041.hp2 HG00280.hp1 HG00597.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068	3	76	0.0395	11	c.522 others(30): Show c.522+31022_522+31032dupATTAGTTACTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69996946	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG01433.hp1 others(13): Show HG00099.hp2 HG01175.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp2 HG03579.hp2 HG03704.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0001c0001t0029 a0001c0003t0027 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0005c0011t0007	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 others(13): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0006g0038 a0001c0001t0009g0023 a0001c0001t0019g0075 a0001c0001t0023g0072 a0001c0001t0029g0022 a0001c0003t0027g0009 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0005c0011t0007g0004	16	76	0.2105	11	c.522 others(30): Show c.522+97456_522+97466dupAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70108783	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0017 a0002c0002t0036g0017	1	76	0.0132	11	c.523 others(28): Show c.523-9328_523-9318dupAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	76	0.0132	11	c.660 others(30): Show c.660+22346_660+22356dupAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245131	A A	AAGTATAT others(4): Show AAGTATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	76	0.0132	11	c.660 others(32): Show c.660+110561_660+110562insGTATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG02717.hp1 others(1): Show HG00597.hp1 HG01243.hp2 HG02717.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 a0001c0007t0006	a0001c0001t0001g0071 a0001c0001t0004g0054 a0001c0001t0025g0050 others(1): Show a0001c0001t0001g0071 a0001c0001t0004g0054 a0001c0001t0025g0050 a0001c0007t0006g0027	4	76	0.0526	11	c.691 others(32): Show c.691-119317_691-119307dupAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70724443	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04199.hp1 NA18952.hp2 HG01243.hp1 HG04199.hp1 NA18952.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0008 a0003c0006t0003 a0001c0001t0003 a0001c0001t0008 a0003c0006t0003	a0001c0001t0003g0031 a0001c0001t0008g0063 a0003c0006t0003g0034 a0001c0001t0003g0031 a0001c0001t0008g0063 a0003c0006t0003g0034	3	76	0.0395	11	c.742 others(30): Show c.742+25833_742+25843dupTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0151 a0001c0001t0005g0146 a0001c0001t0001g0151 a0001c0001t0005g0146	2	266	0.0075	11	c.517 others(26): Show c.517-755_517-745dupTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG02602.hp2 HG00738.hp1 HG01106.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060	3	266	0.0113	11	c.446 others(30): Show c.446-23476_446-23466dupAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33918458	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	266	0.0038	11	c.446 others(30): Show c.446-42474_446-42464dupAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33968099	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02083.hp2 NA18968.hp2 others(2): Show HG00609.hp1 HG02083.hp2 NA18968.hp2 NA19030.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0085 a0001c0001t0001g0189 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0189 a0001c0001t0001g0238 a0001c0001t0001g0240 a0003c0003t0003g0002	5	266	0.0188	11	c.445 others(30): Show c.445+34922_445+34932dupTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01934.hp2 HG02004.hp2 others(8): Show HG01517.hp2 HG01934.hp2 HG02004.hp2 HG02071.hp2 HG02135.hp2 HG02148.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp2 NA18987.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080	11	372	0.0296	11	c.-20 others(26): Show c.-20+436_-20+446dupAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32495343	C C	CCCCCCGC others(4): Show CCCCCCGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0042 a0001c0004t0042	a0001c0004t0042g0154 a0001c0004t0042g0154	1	330	0.0030	11	c.-36 others(20): Show c.-367_-366insCCCCCGCTCCT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding		145		chr7	TogoVar
AVL9_chr7_32490489_32593726	32502392	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02723.hp1 others(4): Show HG02055.hp2 HG02451.hp2 HG02723.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0058 a0001c0001t0135 a0001c0001t0136 others(3): Show a0001c0001t0058 a0001c0001t0135 a0001c0001t0136 a0001c0001t0138 a0001c0001t0141 a0001c0009t0037	a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0135g0297 others(4): Show a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0135g0297 a0001c0001t0136g0299 a0001c0001t0138g0296 a0001c0001t0141g0302 a0001c0009t0037g0313	7	330	0.0212	11	c.93+ others(26): Show c.93+6597_93+6607dupAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32540871	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	330	0.0030	11	c.94- others(26): Show c.94-2235_94-2225dupTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32546069	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01258.hp2 others(12): Show HG01106.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG02055.hp2 HG02145.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG03195.hp2 HG03225.hp1 HG03831.hp1 NA18945.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0010 a0001c0001t0024 a0001c0001t0028 others(6): Show a0001c0001t0010 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0044 a0001c0008t0118 a0001c0008t0119 a0001c0009t0037 a0001c0009t0068	a0001c0001t0010g0250 a0001c0001t0024g0284 a0001c0001t0024g0287 others(12): Show a0001c0001t0010g0250 a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0044g0240 a0001c0008t0118g0053 a0001c0008t0119g0311 a0001c0009t0037g0312 a0001c0009t0037g0313 a0001c0009t0068g0314	15	330	0.0455	11	c.300 others(28): Show c.300+1294_300+1304dupTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32551605	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(64): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02630.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp2 NA18948.hp1 NA18965.hp1 NA18966.hp1 NA18984.hp2 NA19005.hp2 NA19030.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0002c0003	a0001c0001t0003 a0001c0001t0035 a0001c0001t0135 others(34): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141 a0001c0004t0021 a0001c0004t0031 a0001c0004t0040 a0001c0004t0042 a0001c0004t0085 a0001c0004t0087 a0001c0004t0088 a0001c0004t0091 a0001c0004t0092 a0001c0004t0109 a0001c0009t0037 a0001c0009t0068 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0020 a0002c0003t0030 a0002c0003t0032 a0002c0003t0041 a0002c0003t0081 a0002c0003t0082 a0002c0003t0083 a0002c0003t0084 a0002c0003t0086 a0002c0003t0089 a0002c0003t0090 a0002c0003t0115 a0002c0003t0116 a0002c0003t0123 a0002c0003t0124	a0001c0001t0003g0201 a0001c0001t0035g0005 a0001c0001t0135g0297 others(64): Show a0001c0001t0003g0201 a0001c0001t0035g0005 a0001c0001t0135g0297 a0001c0001t0136g0299 a0001c0001t0137g0301 a0001c0001t0138g0296 a0001c0001t0141g0302 a0001c0004t0021g0157 a0001c0004t0021g0160 a0001c0004t0021g0162 a0001c0004t0021g0325 a0001c0004t0031g0153 a0001c0004t0031g0168 a0001c0004t0040g0159 a0001c0004t0042g0154 a0001c0004t0042g0155 a0001c0004t0085g0158 a0001c0004t0087g0324 a0001c0004t0088g0156 a0001c0004t0091g0114 a0001c0004t0092g0119 a0001c0004t0109g0161 a0001c0009t0037g0312 a0001c0009t0068g0314 a0002c0003t0002g0117 a0002c0003t0002g0121 a0002c0003t0002g0129 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0144 a0002c0003t0002g0152 a0002c0003t0002g0171 a0002c0003t0008g0002 a0002c0003t0008g0115 a0002c0003t0008g0123 a0002c0003t0008g0125 a0002c0003t0008g0128 a0002c0003t0008g0170 a0002c0003t0008g0328 a0002c0003t0012g0116 a0002c0003t0012g0120 a0002c0003t0012g0146 a0002c0003t0012g0148 a0002c0003t0012g0149 a0002c0003t0012g0150 a0002c0003t0020g0113 a0002c0003t0020g0130 a0002c0003t0020g0134 a0002c0003t0020g0169 a0002c0003t0030g0138 a0002c0003t0030g0151 a0002c0003t0030g0165 a0002c0003t0032g0118 a0002c0003t0032g0135 a0002c0003t0032g0136 a0002c0003t0041g0139 a0002c0003t0081g0164 a0002c0003t0082g0002 a0002c0003t0083g0137 a0002c0003t0084g0127 a0002c0003t0086g0174 a0002c0003t0089g0124 a0002c0003t0090g0122 a0002c0003t0115g0140 a0002c0003t0116g0166 a0002c0003t0123g0191 a0002c0003t0124g0037	67	330	0.2030	11	c.462 others(26): Show c.462+191_462+201dupTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02486.hp1 HG02622.hp1 others(3): Show HG00733.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0143 a0001c0007t0016 a0001c0008t0117 others(1): Show a0001c0002t0143 a0001c0007t0016 a0001c0008t0117 a0001c0008t0118	a0001c0002t0143g0195 a0001c0007t0016g0306 a0001c0007t0016g0307 others(3): Show a0001c0002t0143g0195 a0001c0007t0016g0306 a0001c0007t0016g0307 a0001c0007t0016g0308 a0001c0008t0117g0052 a0001c0008t0118g0053	6	330	0.0182	11	c.135 others(28): Show c.1351-392_1351-382dupAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97672678	C C	CTTCTATG others(4): Show CTTCTATGCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	446	0.0022	11	c.51 others(22): Show c.5190_*5191insATAGCATAGAA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding		4745		chr10	TogoVar
AVP_chr20_3077556_3089724	3088828	G G	GTTTTTGT others(4): Show GTTTTTGTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	468	0.0043	11	c.-41 others(22): Show c.-4155_-4154insAAAAACAAAAA	AVP	ENSG00000101200.5	transcript	ENST00000380293.3	protein_coding		4105		chr20	TogoVar
AWAT2_chrX_70035542_70054938	70043058	G G	GCTGTCCT others(4): Show GCTGTCCTTACC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0036 a0002c0005t0008g0036	1	338	0.0030	11	c.647 others(21): Show c.647_647+10dupGGTAAGGACAG	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding	5/7			chrX	TogoVar
AXDND1_chr1_179360971_179559735	179364532	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0296 a0010c0017t0001g0296	1	356	0.0028	11	c.-15 others(22): Show c.-1575_-1574insTTTTTTTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding		1438		chr1	TogoVar

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