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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Select column to sort.

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Results per page.

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
ATP6V1H_chr8_53710543_53848245	53755727	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18999.hp1 HG01358.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0059 a0001c0001t0001g0072	2	286	0.0070	-17	c.127 others(34): Show c.1277+811_1277+827delTATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755728	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03834.hp2 NA18978.hp2 others(3): Show HG02129.hp1 HG03834.hp2 NA18978.hp2 NA18983.hp2 NA19006.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0084	6	286	0.0210	-17	c.127 others(34): Show c.1277+810_1277+826delATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755730	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	286	0.0035	-17	c.127 others(34): Show c.1277+808_1277+824delAAATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77985168	GTCACCAT others(10): Show GTCACCATGCCTGGGTAA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19001.hp2 NA19074.hp2 NA18965.hp1 NA19001.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0228 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0005g0228 a0001c0001t0011g0225 a0001c0001t0011g0226	3	233	0.0129	-17	c.121 others(34): Show c.121-3072_121-3056delCACCATGCCTGGGTAAT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78027152	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATCT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0007 a0013c0011t0007	a0013c0011t0007g0175 a0013c0011t0007g0175	1	233	0.0043	-17	c.291 others(36): Show c.2917-2097_2917-2081delAAAAAAAAAAAAAATCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22			chrX	TogoVar
ATP8A2_chr13_25366974_26030851	25813485	ATATGATA others(10): Show ATATGATATATGATATGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03540.hp2 others(1): Show HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0016	a0001c0001t0030 a0001c0005t0044 a0001c0006t0043 others(1): Show a0001c0001t0030 a0001c0005t0044 a0001c0006t0043 a0001c0016t0045	a0001c0001t0030g0087 a0001c0005t0044g0018 a0001c0006t0043g0095 others(1): Show a0001c0001t0030g0087 a0001c0005t0044g0018 a0001c0006t0043g0095 a0001c0016t0045g0105	4	122	0.0328	-17	c.268 others(38): Show c.2680-14602_2680-14586delATGGTATGATATATGAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25885257	TGCCCACC others(10): Show TGCCCACCAGCATGCCTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(17): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02615.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18977.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018	a0001c0001t0010 a0001c0001t0046 a0001c0001t0053 others(17): Show a0001c0001t0010 a0001c0001t0046 a0001c0001t0053 a0001c0001t0066 a0001c0001t0072 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0029 a0001c0003t0010 a0001c0004t0002 a0001c0004t0004 a0001c0007t0001 a0001c0008t0033 a0001c0008t0057 a0001c0009t0037 a0001c0009t0038 a0001c0010t0012 a0001c0010t0056 a0001c0018t0024	a0001c0001t0010g0100 a0001c0001t0046g0045 a0001c0001t0053g0114 others(17): Show a0001c0001t0010g0100 a0001c0001t0046g0045 a0001c0001t0053g0114 a0001c0001t0066g0092 a0001c0001t0072g0027 a0001c0002t0001g0069 a0001c0002t0003g0088 a0001c0002t0021g0017 a0001c0002t0029g0052 a0001c0003t0010g0026 a0001c0004t0002g0049 a0001c0004t0004g0048 a0001c0007t0001g0081 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0009t0037g0008 a0001c0009t0038g0112 a0001c0010t0012g0091 a0001c0010t0056g0006 a0001c0018t0024g0066	20	122	0.1639	-17	c.318 others(38): Show c.3183+22852_3183+22868delCCACCAGCATGCCTGGC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57672882	AAAAGTAT others(10): Show AAAAGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	314	0.0032	-17	c.182 others(36): Show c.1820-1319_1820-1303delATATATATATATACTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57717547	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02809.hp2 others(3): Show HG02572.hp1 HG02647.hp1 HG02809.hp2 HG06807.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0001t0050	a0001c0001t0001g0006 a0001c0001t0001g0100 a0001c0001t0002g0203 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0100 a0001c0001t0002g0203 a0001c0001t0004g0019 a0001c0001t0021g0001 a0001c0001t0050g0305	6	314	0.0191	-17	c.182 others(36): Show c.182-10977_182-10961delTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57717576	AAAAAAAA others(10): Show AAAAAAAAAAAAAGAACT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02922.hp2 others(1): Show HG02055.hp1 HG02622.hp2 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0283 a0001c0001t0008g0020 a0001c0001t0008g0099 others(1): Show a0001c0001t0007g0283 a0001c0001t0008g0020 a0001c0001t0008g0099 a0001c0001t0008g0101	4	314	0.0127	-17	c.182 others(36): Show c.182-11006_182-10990delAGTTCTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57720221	CAGCAACA others(10): Show CAGCAACAGAACAAAGCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	314	0.0032	-17	c.181 others(36): Show c.181+11389_181+11405delAGCTTTGTTCTGTTGCT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154354267	AACCTCTG others(10): Show AACCTCTGCTCTGGGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00544.hp2 others(82): Show HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG01071.hp2 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18994.hp2 NA18999.hp2 NA19012.hp2 NA19030.hp1 NA19060.hp2 NA19064.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0011	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0014 a0002c0022 a0004c0012 a0005c0016 a0007c0021 a0011c0020	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(15): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0020 a0001c0002t0030 a0001c0003t0002 a0001c0004t0005 a0001c0004t0018 a0001c0004t0021 a0001c0004t0029 a0001c0007t0004 a0001c0009t0004 a0001c0014t0003 a0002c0022t0003 a0004c0012t0003 a0005c0016t0004 a0007c0021t0003 a0011c0020t0003	a0001c0001t0001g0045 a0001c0002t0003g0002 a0001c0002t0003g0009 others(38): Show a0001c0001t0001g0045 a0001c0002t0003g0002 a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0044 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0160 a0001c0002t0004g0155 a0001c0002t0020g0125 a0001c0002t0030g0002 a0001c0003t0002g0004 a0001c0004t0005g0003 a0001c0004t0005g0140 a0001c0004t0005g0145 a0001c0004t0005g0151 a0001c0004t0018g0003 a0001c0004t0021g0144 a0001c0004t0029g0046 a0001c0007t0004g0133 a0001c0007t0004g0134 a0001c0009t0004g0154 a0001c0014t0003g0030 a0001c0014t0003g0120 a0002c0022t0003g0002 a0004c0012t0003g0009 a0005c0016t0004g0159 a0007c0021t0003g0002 a0011c0020t0003g0009	85	382	0.2225	-17	c.51 others(28): Show c.5150_*5166delACCTCTGCTCTGGGGCC	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		2964		chr1	TogoVar
ATP8B3_chr19_1777075_1817276	1787728	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(54): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01978.hp1 HG02027.hp1 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18955.hp1 NA18967.hp2 NA18970.hp1 NA18995.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19070.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0005 a0009 a0010	a0000c0020 a0000c0032 a0000c0035 others(18): Show a0000c0020 a0000c0032 a0000c0035 a0000c0054 a0000c0059 a0001c0001 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0001c0024 a0002c0009 a0002c0026 a0003c0002 a0003c0010 a0004c0012 a0004c0016 a0004c0034 a0005c0033 a0009c0025 a0010c0057	a0000c0020t0007 a0000c0032t0007 a0000c0035t0007 others(19): Show a0000c0020t0007 a0000c0032t0007 a0000c0035t0007 a0000c0054t0007 a0000c0059t0017 a0001c0001t0001 a0001c0001t0006 a0001c0006t0002 a0001c0008t0002 a0001c0011t0001 a0001c0013t0002 a0001c0024t0002 a0002c0009t0006 a0002c0026t0012 a0003c0002t0004 a0003c0010t0006 a0004c0012t0001 a0004c0016t0002 a0004c0034t0001 a0005c0033t0001 a0009c0025t0006 a0010c0057t0001	a0000c0020t0007g0050 a0000c0020t0007g0075 a0000c0032t0007g0129 others(54): Show a0000c0020t0007g0050 a0000c0020t0007g0075 a0000c0032t0007g0129 a0000c0035t0007g0165 a0000c0054t0007g0022 a0000c0059t0017g0091 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0006g0375 a0001c0006t0002g0146 a0001c0008t0002g0162 a0001c0011t0001g0196 a0001c0011t0001g0198 a0001c0011t0001g0199 a0001c0011t0001g0213 a0001c0011t0001g0227 a0001c0013t0002g0229 a0001c0024t0002g0131 a0001c0024t0002g0138 a0002c0009t0006g0240 a0002c0009t0006g0244 a0002c0009t0006g0269 a0002c0009t0006g0272 a0002c0009t0006g0285 a0002c0009t0006g0288 a0002c0009t0006g0323 a0002c0009t0006g0324 a0002c0009t0006g0359 a0002c0026t0012g0237 a0002c0026t0012g0282 a0003c0002t0004g0290 a0003c0002t0004g0350 a0003c0010t0006g0257 a0003c0010t0006g0297 a0003c0010t0006g0301 a0003c0010t0006g0306 a0003c0010t0006g0325 a0003c0010t0006g0333 a0003c0010t0006g0347 a0004c0012t0001g0109 a0004c0012t0001g0149 a0004c0016t0002g0112 a0004c0034t0001g0224 a0005c0033t0001g0234 a0009c0025t0006g0299 a0010c0057t0001g0051	57	390	0.1462	-17	c.307 others(34): Show c.3070-559_3070-543delTTTTTTTTTTTTTTTTT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50098266	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	254	0.0039	-17	c.28+ others(32): Show c.28+8656_28+8672delAAAAAAAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51690109	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 NA18522.hp2 HG02258.hp1 HG02630.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0031 a0001c0003t0015 a0001c0003t0031	a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0031g0120 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0031g0120	3	312	0.0096	-17	c.723 others(32): Show c.723+613_723+629delTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	8/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79161185	ATAATCTA others(10): Show ATAATCTATTGTGTTAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01106.hp1 others(48): Show HG00280.hp1 HG00673.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02559.hp2 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp1 HG03927.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2	a0001 a0012 a0015 others(1): Show a0001 a0012 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0012c0018 a0015c0027 a0016c0028	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(14): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0011t0006 a0001c0013t0004 a0001c0015t0001 a0001c0017t0004 a0012c0018t0002 a0015c0027t0003 a0016c0028t0012	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 others(48): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0154 a0001c0004t0002g0109 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0017t0004g0099 a0012c0018t0002g0114 a0015c0027t0003g0139 a0016c0028t0012g0144	51	298	0.1711	-17	c.778 others(34): Show c.778+6631_778+6647delTAATCTATTGTGTTAAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29			chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18017171	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	328	0.0031	-17	c.13 others(28): Show c.1361_*1377delTTTTTTTTTTTTTTTTT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding		849		chr17	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249897	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0203 a0001c0002t0003g0203	1	358	0.0028	-17	c.-41 others(24): Show c.-41_-25delTTTTTTTTTTTTTTTTT	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding		10		chr5	TogoVar
ATRNL1_chr10_115088365_115953999	115389591	TTTCATCC others(10): Show TTTCATCCAATGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0027	1	128	0.0078	-17	c.317 others(36): Show c.3176-5067_3176-5051delTTCATCCAATGATGGAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115743780	TTTTATTA others(10): Show TTTTATTAAAATTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	128	0.0078	-17	c.390 others(38): Show c.3903+16427_3903+16443delTTATTAAAATTGTATGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115743782	TTATTAAA others(10): Show TTATTAAAATTGTATGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(115): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0002c0008 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0015 a0001c0003t0031 a0001c0003t0037 a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 a0001c0003t0045 a0001c0003t0047 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0006t0009 a0001c0006t0013 a0001c0006t0033 a0001c0007t0027 a0001c0007t0030 a0001c0009t0005 a0001c0010t0006 a0001c0011t0002 a0001c0012t0001 a0001c0013t0009 a0001c0015t0034 a0001c0016t0003 a0002c0008t0011 a0002c0014t0009	a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 others(115): Show a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0006g0100 a0001c0001t0006g0109 a0001c0001t0007g0027 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0010g0018 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0011g0112 a0001c0001t0011g0119 a0001c0001t0013g0019 a0001c0001t0014g0001 a0001c0001t0015g0064 a0001c0001t0016g0031 a0001c0001t0017g0028 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0022g0032 a0001c0001t0023g0022 a0001c0001t0024g0024 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0001t0029g0075 a0001c0001t0035g0118 a0001c0001t0036g0117 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0001t0046g0099 a0001c0001t0048g0107 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0103 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0006g0062 a0001c0002t0006g0086 a0001c0002t0028g0076 a0001c0003t0001g0083 a0001c0003t0002g0081 a0001c0003t0003g0049 a0001c0003t0003g0060 a0001c0003t0004g0042 a0001c0003t0014g0089 a0001c0003t0015g0108 a0001c0003t0031g0016 a0001c0003t0037g0121 a0001c0003t0038g0106 a0001c0003t0039g0126 a0001c0003t0041g0047 a0001c0003t0045g0090 a0001c0003t0047g0128 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0009g0038 a0001c0006t0013g0029 a0001c0006t0033g0035 a0001c0007t0027g0006 a0001c0007t0030g0008 a0001c0009t0005g0059 a0001c0010t0006g0087 a0001c0011t0002g0116 a0001c0012t0001g0071 a0001c0013t0009g0078 a0001c0015t0034g0110 a0001c0016t0003g0097 a0002c0008t0011g0073 a0002c0014t0009g0072	118	128	0.9219	-17	c.390 others(38): Show c.3903+16437_3903+16453delTGTATGTGTATTAAAAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(5): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01358.hp2 NA18952.hp2 NA18985.hp1 NA19075.hp1 NA19081.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0007 a0003c0008 a0003c0017 others(1): Show a0001c0007 a0003c0008 a0003c0017 a0017c0032	a0001c0007t0006 a0003c0008t0005 a0003c0008t0029 others(2): Show a0001c0007t0006 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0017c0032t0001	a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 others(5): Show a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0008t0029g0196 a0003c0017t0021g0199 a0017c0032t0001g0195	8	220	0.0364	-17	c.410 others(36): Show c.410+14106_410+14122delTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG02698.hp2 others(1): Show HG00438.hp2 HG00735.hp2 HG02698.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0111 a0001c0001t0001g0141	4	220	0.0182	-17	c.386 others(36): Show c.3864-3363_3864-3347delTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77716110	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	218	0.0046	-17	c.133 others(34): Show c.133+1004_133+1020delAAAAAAAAAAAAAAAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(10): Show CTATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	322	0.0031	-17	c.589 others(32): Show c.5898+66_5898+82delATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45736492	TAACACCT others(10): Show TAACACCTTACAGATAAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	316	0.0032	-17	c.895 others(34): Show c.895-2238_895-2222delAACACCTTACAGATAAG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11			chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01071.hp1 others(17): Show HG00408.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01433.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02809.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp1 NA18954.hp2 NA19057.hp1 NA19074.hp1 NA19081.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0067 others(17): Show a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0115 a0001c0001t0002g0153 a0001c0001t0002g0248 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0006g0086 a0001c0001t0006g0119 a0001c0001t0010g0103	20	316	0.0633	-17	c.117 others(38): Show c.1173+12871_1173+12887delTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45810040	CTTTATAG others(10): Show CTTTATAGTTTTACCTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	316	0.0032	-17	c.123 others(36): Show c.1237+3020_1237+3036delTTATAGTTTTACCTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02698.hp2 HG02004.hp1 HG02698.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0001 a0012c0011t0004 a0001c0001t0001 a0012c0011t0004	a0001c0001t0001g0045 a0012c0011t0004g0086 a0001c0001t0001g0045 a0012c0011t0004g0086	2	182	0.0110	-17	c.-16 others(38): Show c.-160-73789_-160-73773delAAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	382	0.0026	-17	c.-32 others(26): Show c.-324_-308delCCCCCCCCCCCCCCCCC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111584377	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG03098.hp2 others(3): Show HG01884.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp1 NA19043.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0007c0015 a0003c0004 a0007c0015	a0003c0004t0003 a0003c0004t0005 a0007c0015t0005 a0003c0004t0003 a0003c0004t0005 a0007c0015t0005	a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 others(3): Show a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0005g0086 a0003c0004t0005g0109 a0007c0015t0005g0004	6	298	0.0201	-17	c.251 others(36): Show c.251+14390_251+14406delTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	252	0.0040	-17	c.151 others(34): Show c.1517+659_1517+675delAAAAAAAAAAATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619526	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18522.hp2 NA18948.hp1 others(1): Show HG02083.hp2 NA18522.hp2 NA18948.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0043	a0001c0001t0001g0225 a0001c0001t0002g0177 a0001c0001t0009g0141 others(1): Show a0001c0001t0001g0225 a0001c0001t0002g0177 a0001c0001t0009g0141 a0001c0001t0043g0105	4	252	0.0159	-17	c.151 others(34): Show c.1517+657_1517+673delAAAAAAAAAAAAATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619528	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02630.hp2 NA18945.hp1 others(2): Show HG02129.hp1 HG02630.hp2 NA18945.hp1 NA19054.hp1 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0002 a0007c0009t0007 a0001c0001t0002 a0007c0009t0007	a0001c0001t0002g0002 a0001c0001t0002g0162 a0001c0001t0002g0186 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0002g0188 a0007c0009t0007g0096	5	252	0.0198	-17	c.151 others(34): Show c.1517+655_1517+671delAAAAAAAAAAAAAAATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG01516.hp1 others(6): Show HG00642.hp2 HG01255.hp1 HG01516.hp1 HG01943.hp1 HG02602.hp1 HG02818.hp1 HG03490.hp1 HG06807.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 a0003c0003t0005	a0001c0001t0001g0059 a0001c0001t0001g0181 a0001c0001t0003g0050 others(6): Show a0001c0001t0001g0059 a0001c0001t0001g0181 a0001c0001t0003g0050 a0001c0001t0004g0128 a0001c0001t0012g0064 a0001c0001t0012g0115 a0001c0001t0025g0104 a0001c0001t0025g0240 a0003c0003t0005g0079	9	252	0.0357	-17	c.151 others(34): Show c.1517+653_1517+669delAAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662070	CCTTCCTT others(10): Show CCTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	252	0.0040	-17	c.578 others(34): Show c.578+2979_578+2995delAGAAAGAAGGAAGGAAG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02630.hp2 HG02723.hp1 others(5): Show HG02155.hp1 HG02630.hp2 HG02723.hp1 HG03130.hp1 HG03471.hp2 HG03491.hp1 NA19043.hp1 NA19091.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0028 a0002c0002t0030 a0007c0009t0007	a0001c0001t0003g0238 a0001c0001t0004g0219 a0001c0001t0005g0014 others(5): Show a0001c0001t0003g0238 a0001c0001t0004g0219 a0001c0001t0005g0014 a0001c0001t0011g0143 a0001c0001t0016g0069 a0001c0001t0028g0114 a0002c0002t0030g0212 a0007c0009t0007g0096	8	252	0.0318	-17	c.356 others(36): Show c.356-57289_356-57273delTTTTTTTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105757213	TCAGGTTT others(10): Show TCAGGTTTGTGAGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp2 others(69): Show HG00558.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02735.hp2 HG02738.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03579.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0010 a0001c0001 a0001c0007 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0040 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0001t0062 a0001c0007t0038 a0006c0010t0031	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0033 others(69): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0002g0021 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0050 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0147 a0001c0001t0003g0171 a0001c0001t0004g0023 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0126 a0001c0001t0005g0248 a0001c0001t0006g0034 a0001c0001t0006g0067 a0001c0001t0006g0197 a0001c0001t0008g0015 a0001c0001t0008g0045 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0103 a0001c0001t0009g0146 a0001c0001t0010g0091 a0001c0001t0010g0111 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0157 a0001c0001t0013g0243 a0001c0001t0013g0251 a0001c0001t0014g0233 a0001c0001t0015g0193 a0001c0001t0016g0061 a0001c0001t0016g0136 a0001c0001t0017g0113 a0001c0001t0018g0046 a0001c0001t0018g0131 a0001c0001t0019g0178 a0001c0001t0019g0230 a0001c0001t0023g0183 a0001c0001t0024g0250 a0001c0001t0029g0072 a0001c0001t0040g0207 a0001c0001t0047g0121 a0001c0001t0051g0035 a0001c0001t0054g0087 a0001c0001t0062g0007 a0001c0007t0038g0158 a0006c0010t0031g0204	72	252	0.2857	-17	c.355 others(36): Show c.355+31374_355+31390delGAGGCCTCACAAACCTG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7_chr3_63858867_64008462	63863946	GCGCCGCG others(10): Show GCGCCGCGCCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(83): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG01168.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0015 a0018 a0020	a0001c0001 a0002c0002 a0002c0003 others(7): Show a0001c0001 a0002c0002 a0002c0003 a0004c0029 a0006c0012 a0007c0008 a0015c0037 a0015c0038 a0018c0025 a0020c0036	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(21): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0002t0002 a0002c0002t0008 a0002c0002t0017 a0002c0002t0038 a0002c0002t0039 a0002c0003t0002 a0002c0003t0008 a0002c0003t0015 a0002c0003t0016 a0002c0003t0040 a0004c0029t0002 a0006c0012t0005 a0007c0008t0002 a0015c0037t0030 a0015c0038t0016 a0018c0025t0002 a0020c0036t0002	a0001c0001t0002g0225 a0001c0001t0005g0213 a0001c0001t0005g0215 others(83): Show a0001c0001t0002g0225 a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0250 a0001c0001t0005g0252 a0001c0001t0005g0267 a0001c0001t0011g0209 a0001c0001t0011g0244 a0001c0001t0011g0246 a0001c0001t0011g0247 a0001c0001t0016g0233 a0001c0001t0035g0243 a0001c0001t0036g0245 a0001c0001t0037g0248 a0002c0002t0002g0068 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0212 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0242 a0002c0002t0002g0266 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0008g0208 a0002c0002t0008g0220 a0002c0002t0008g0239 a0002c0002t0008g0260 a0002c0002t0017g0240 a0002c0002t0017g0251 a0002c0002t0017g0268 a0002c0002t0038g0223 a0002c0002t0039g0269 a0002c0003t0002g0214 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0232 a0002c0003t0002g0237 a0002c0003t0002g0241 a0002c0003t0002g0253 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0258 a0002c0003t0002g0259 a0002c0003t0002g0263 a0002c0003t0002g0264 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0285 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0296 a0002c0003t0008g0262 a0002c0003t0008g0280 a0002c0003t0015g0261 a0002c0003t0015g0283 a0002c0003t0015g0284 a0002c0003t0016g0238 a0002c0003t0040g0236 a0004c0029t0002g0277 a0006c0012t0005g0249 a0007c0008t0002g0211 a0007c0008t0002g0229 a0007c0008t0002g0289 a0007c0008t0002g0290 a0015c0037t0030g0231 a0015c0038t0016g0230 a0018c0025t0002g0257 a0020c0036t0002g0228	86	300	0.2867	-17	c.-31 others(26): Show c.-316_-300delGCCGCCGCCGCCGCCGC	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/13	48630	INFO_REALIGN_3_PRIME	chr3	TogoVar
AUNIP_chr1_25829006_25864457	25843607	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	352	0.0028	-17	c.79- others(32): Show c.79-6070_79-6054delCTTTTTTTTTTTTTTTT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AURKA_chr20_56364390_56397215	56371624	ATCCAACC others(10): Show ATCCAACCACAGAGACAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02486.hp1 others(4): Show HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02723.hp1 HG02896.hp2 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0043 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show a0001c0001t0002g0043 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0226 a0001c0001t0002g0247 a0001c0001t0003g0201	7	384	0.0182	-17	c.855 others(32): Show c.855-982_855-966delCTGTCTCTGTGGTTGGA	AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding	7/8			chr20	TogoVar
AURKB_chr17_8199734_8215575	8214543	TGGCCAGC others(10): Show TGGCCAGCTTCAGGACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	428	0.0023	-17	c.-40 others(28): Show c.-4056_-4040delCTGTCCTGAAGCTGGCC	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		3969		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69891774	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	76	0.0132	-17	c.310 others(34): Show c.310-7491_310-7475delTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70108783	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02258.hp2 others(4): Show HG00741.hp1 HG01433.hp1 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0003t0008	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0007g0040 a0001c0001t0019g0075 a0001c0001t0023g0072 a0001c0003t0008g0069	7	76	0.0921	-17	c.523 others(34): Show c.523-9334_523-9318delAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03209.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0005c0007t0003 a0006c0006t0002 a0008c0009t0002	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(154): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0006g0030 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0219 a0002c0002t0001g0233 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0002c0002t0001g0262 a0003c0003t0001g0263 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0234 a0008c0009t0002g0021	157	266	0.5902	-17	c.445 others(36): Show c.445+40096_445+40112delTTTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0344 a0002c0001t0001g0344	1	356	0.0028	-17	c.123 others(36): Show c.1231-8138_1231-8122delTTTTTTTTTTTTTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488632	CTCCTTTC others(10): Show CTCCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02809.hp1 HG02886.hp1 others(4): Show HG01261.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0001 a0001c0002 a0001c0007 a0002c0001	a0001c0002t0001 a0001c0007t0001 a0002c0001t0001 a0001c0002t0001 a0001c0007t0001 a0002c0001t0001	a0001c0002t0001g0206 a0001c0007t0001g0183 a0001c0007t0001g0200 others(4): Show a0001c0002t0001g0206 a0001c0007t0001g0183 a0001c0007t0001g0200 a0001c0007t0001g0201 a0002c0001t0001g0224 a0002c0001t0001g0230 a0002c0001t0001g0328	7	356	0.0197	-17	c.209 others(36): Show c.2092-2903_2092-2887delCTTTCTTTCTTTCTTTC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285908	CCCCAACC others(10): Show CCCCAACCCCGCGGTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA18944.hp2 NA18964.hp2 others(1): Show HG03041.hp2 NA18944.hp2 NA18964.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0087 a0001c0002t0001g0144 a0001c0002t0001g0237 others(1): Show a0001c0001t0001g0087 a0001c0002t0001g0144 a0001c0002t0001g0237 a0001c0002t0001g0242	4	378	0.0106	-17	c.21 others(28): Show c.2197_*2213delAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1531		chr16	TogoVar
AXIN1_chr16_282440_357723	285949	CCCCAACC others(10): Show CCCCAACCCCGCGGTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01256.hp1 others(25): Show HG00558.hp2 HG00621.hp1 HG01256.hp1 HG01346.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02273.hp1 HG02293.hp1 HG02622.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp1 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18964.hp2 NA18979.hp2 NA18986.hp1 NA18988.hp2 NA19009.hp2 NA19011.hp2 NA19068.hp1 NA19074.hp1 NA19088.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0028 a0001c0001 a0001c0002 a0008c0028	a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 a0008c0028t0001	a0001c0001t0001g0072 a0001c0001t0001g0284 a0001c0001t0001g0329 others(25): Show a0001c0001t0001g0072 a0001c0001t0001g0284 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0002t0001g0073 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0233 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0260 a0001c0002t0015g0078 a0008c0028t0001g0257	28	378	0.0741	-17	c.21 others(28): Show c.2156_*2172delAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1490		chr16	TogoVar
AXIN1_chr16_282440_357723	287738	GCCTGGGC others(10): Show GCCTGGGCCCCACCCAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG03834.hp2 HG03942.hp2 HG02735.hp2 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0078 a0001c0002t0015g0104 a0001c0002t0015g0125 a0001c0002t0015g0078 a0001c0002t0015g0104 a0001c0002t0015g0125	3	378	0.0079	-17	c.36 others(26): Show c.367_*383delTCTGGGTGGGGCCCAGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	11/11	367		chr16	TogoVar

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