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
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(15): Show GTCTCTCTGTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA18977.hp2 HG01069.hp1 HG01071.hp1 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0029 a0001c0004t0002 a0001c0004t0004 a0001c0002t0029 a0001c0004t0002 a0001c0004t0004	a0001c0002t0029g0052 a0001c0004t0002g0049 a0001c0004t0004g0048 a0001c0002t0029g0052 a0001c0004t0002g0049 a0001c0004t0004g0048	3	122	0.0246	22	c.318 others(43): Show c.3183+30077_3183+30078insGTCTCTCTCTCTCTCTCTCTCT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0098 a0001c0006t0006g0098	1	122	0.0082	22	c.318 others(43): Show c.3184-24210_3184-24209insCTTTCTTTCTTTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18612.hp2 NA18955.hp2 others(1): Show NA18522.hp2 NA18612.hp2 NA18955.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018	a0001c0001t0007g0196 a0001c0001t0007g0255 a0001c0001t0008g0037 others(1): Show a0001c0001t0007g0196 a0001c0001t0007g0255 a0001c0001t0008g0037 a0001c0001t0018g0296	4	314	0.0127	22	c.353 others(39): Show c.3532-171_3532-170insTACACACACACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02129.hp1 NA19240.hp1 HG01516.hp2 HG02129.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0003g0285 a0001c0001t0006g0069 a0001c0001t0009g0232 a0001c0001t0003g0285 a0001c0001t0006g0069 a0001c0001t0009g0232	3	314	0.0096	22	c.163 others(41): Show c.1630+3737_1630+3758dupTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG03239.hp1 others(1): Show HG02922.hp2 HG02976.hp2 HG03239.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0003c0003t0042	a0001c0001t0001g0098 a0001c0001t0007g0283 a0001c0001t0008g0020 others(1): Show a0001c0001t0001g0098 a0001c0001t0007g0283 a0001c0001t0008g0020 a0003c0003t0042g0182	4	314	0.0127	22	c.-25 others(41): Show c.-25-24361_-25-24360insATATATATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756210	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0099 a0001c0001t0008g0099	1	314	0.0032	22	c.-25 others(41): Show c.-25-24379_-25-24378insGTATATATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATACATAT others(15): Show ATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02451.hp2 others(6): Show HG02055.hp2 HG02451.hp1 HG02451.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0026 a0001c0001t0028 a0001c0001t0049	a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 others(6): Show a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0002g0276 a0001c0001t0003g0195 a0001c0001t0010g0151 a0001c0001t0026g0311 a0001c0001t0028g0304 a0001c0001t0049g0309	9	314	0.0287	22	c.-25 others(41): Show c.-25-24474_-25-24473insCATATATATATATATATATGTA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02132.hp1 HG01255.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0131 a0001c0001t0006g0054 a0001c0001t0001g0131 a0001c0001t0006g0054	2	314	0.0064	22	c.-25 others(41): Show c.-25-24474_-25-24473insCATATATATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57759155	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp2 HG00741.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0096 a0001c0001t0006g0045 a0001c0001t0001g0096 a0001c0001t0006g0045	2	314	0.0064	22	c.-25 others(41): Show c.-25-27345_-25-27324dupTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1778891	C C	CACACACA others(15): Show CACACACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0008 a0001 a0008	a0001c0008 a0008c0067 a0001c0008 a0008c0067	a0001c0008t0002 a0008c0067t0009 a0001c0008t0002 a0008c0067t0009	a0001c0008t0002g0232 a0008c0067t0009g0037 a0001c0008t0002g0232 a0008c0067t0009g0037	2	390	0.0051	22	c.41 others(33): Show c.4136_*4137insATGTGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		3183		chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50029255	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01071.hp1 others(3): Show HG00323.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0003c0003t0001g0001 a0003c0003t0001g0125 a0003c0003t0001g0126 others(2): Show a0003c0003t0001g0001 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0002g0004 a0003c0003t0003g0246	6	254	0.0236	22	c.362 others(39): Show c.362+9512_362+9513insGTTTTTTTTTTTTTTTTTTTTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104866	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01978.hp1 NA18951.hp2 others(1): Show HG00099.hp1 HG01978.hp1 NA18951.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0003c0003t0001	a0001c0001t0001g0217 a0001c0001t0003g0216 a0001c0001t0007g0070 others(1): Show a0001c0001t0001g0217 a0001c0001t0003g0216 a0001c0001t0007g0070 a0003c0003t0001g0222	4	254	0.0158	22	c.28+ others(37): Show c.28+2051_28+2072dupGTGTGTGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	312	0.0032	22	c.166 others(41): Show c.1668+1273_1668+1274insTATATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651156	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	312	0.0032	22	c.150 others(41): Show c.1506+5781_1506+5782insCATATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651309	A A	ATTATATA others(15): Show ATTATATAATATATATTTACATT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0099 a0001c0001t0011g0099	1	312	0.0032	22	c.150 others(41): Show c.1506+5628_1506+5629insAATGTAAATATATATTATATAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01884.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0014 a0001c0003t0012 a0001c0003t0014	a0001c0003t0012g0087 a0001c0003t0014g0152 a0001c0003t0012g0087 a0001c0003t0014g0152	2	312	0.0064	22	c.129 others(41): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658890	G G	GTGGGGTG others(15): Show GTGGGGTGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0122 a0001c0001t0039g0122	1	312	0.0032	22	c.129 others(41): Show c.1294-1741_1294-1740insACCCCCCCCCCCCCCCACCCCA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02698.hp2 HG02818.hp2 others(4): Show HG01891.hp2 HG02698.hp2 HG02818.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp2 NA18979.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0005c0009 a0005c0016 a0013c0023	a0001c0001t0001 a0001c0004t0003 a0002c0002t0004 others(3): Show a0001c0001t0001 a0001c0004t0003 a0002c0002t0004 a0005c0009t0005 a0005c0016t0001 a0013c0023t0001	a0001c0001t0001g0040 a0001c0004t0003g0041 a0001c0004t0003g0101 others(4): Show a0001c0001t0001g0040 a0001c0004t0003g0041 a0001c0004t0003g0101 a0002c0002t0004g0258 a0005c0009t0005g0170 a0005c0016t0001g0171 a0013c0023t0001g0042	7	298	0.0235	22	c.119 others(39): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(15): Show CCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02015.hp2 others(2): Show HG01243.hp1 HG01934.hp1 HG02015.hp2 HG02922.hp1 NA19030.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0003 a0001c0004 a0003c0007 others(1): Show a0001c0003 a0001c0004 a0003c0007 a0010c0029	a0001c0003t0003 a0001c0004t0003 a0003c0007t0004 others(1): Show a0001c0003t0003 a0001c0004t0003 a0003c0007t0004 a0010c0029t0004	a0001c0003t0003g0115 a0001c0004t0003g0061 a0003c0007t0004g0287 others(2): Show a0001c0003t0003g0115 a0001c0004t0003g0061 a0003c0007t0004g0287 a0003c0007t0004g0288 a0010c0029t0004g0220	5	298	0.0168	22	c.126 others(41): Show c.1268+2716_1268+2717insCATATATATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02074.hp1 others(9): Show HG01261.hp1 HG01891.hp1 HG02074.hp1 HG02129.hp1 HG02451.hp2 HG03225.hp2 HG03579.hp1 NA18940.hp1 NA18971.hp1 NA19002.hp2 NA19054.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0006 others(2): Show a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0002c0002	a0001c0003t0003 a0001c0004t0003 a0001c0006t0004 others(2): Show a0001c0003t0003 a0001c0004t0003 a0001c0006t0004 a0001c0010t0004 a0002c0002t0009	a0001c0003t0003g0112 a0001c0003t0003g0125 a0001c0003t0003g0142 others(9): Show a0001c0003t0003g0112 a0001c0003t0003g0125 a0001c0003t0003g0142 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0004t0003g0034 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0010t0004g0295 a0002c0002t0009g0177	12	298	0.0403	22	c.126 others(41): Show c.1268+2725_1268+2746dupTATATATATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0004 a0003c0020t0004	a0003c0020t0004g0289 a0003c0020t0004g0289	1	298	0.0034	22	c.126 others(41): Show c.1268+2746_1268+2747insTATATATATATATATATACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79297477	G G	GTAAATAT others(15): Show GTAAATATTAAATACACATTTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0193 a0002c0005t0001g0193	1	298	0.0034	22	c.141 others(41): Show c.1412-6124_1412-6103dupAATATTAAATACACATTTTATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79372175	C C	CTCCCCTG others(15): Show CTCCCCTGCCTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0014t0006g0017 a0001c0014t0006g0093	2	298	0.0067	22	c.301 others(39): Show c.3013-581_3013-560dupCCCTGCCTCCTGCCCCCTCGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79372241	G G	GTCCCCTG others(15): Show GTCCCCTGCCTCCTGCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG02922.hp1 others(5): Show HG01243.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1	a0003 a0010 a0003 a0010	a0003c0007 a0003c0021 a0010c0029 a0003c0007 a0003c0021 a0010c0029	a0003c0007t0004 a0003c0021t0004 a0010c0029t0004 a0003c0007t0004 a0003c0021t0004 a0010c0029t0004	a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 others(5): Show a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0021t0004g0284 a0010c0029t0004g0220	8	298	0.0269	22	c.301 others(39): Show c.3013-563_3013-562insATCCCCTGCCTCCTGCCCCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	298	0.0034	22	c.330 others(39): Show c.3307+789_3307+790insCACACACACACACACACACAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG03492.hp2 others(1): Show HG00544.hp2 HG00609.hp2 HG03492.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0149 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0246	4	328	0.0122	22	c.733 others(37): Show c.733-483_733-462dupTGTGTGTGTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRAID_chr2_27207041_27222157	27211966	C C	CCCCGCCC others(15): Show CCCCGCCCCCTGCCCGCCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG04228.hp1 HG03491.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	302	0.0066	22	c.-40 others(31): Show c.-403_-402insCCCGCCCCCTGCCCGCCCCCTG	ATRAID	ENSG00000138085.18	transcript	ENST00000380171.9	protein_coding		74		chr2	TogoVar
ATRNL1_chr10_115088365_115953999	115270359	A A	AAATATAT others(15): Show AAATATATAAATCTTTTATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00735.hp2 others(91): Show HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18959.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0015 a0002c0004 a0002c0008 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0015 a0001c0003t0031 a0001c0003t0037 a0001c0003t0038 a0001c0003t0041 a0001c0003t0047 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0006t0009 a0001c0006t0013 a0001c0006t0033 a0001c0007t0027 a0001c0009t0005 a0001c0011t0002 a0001c0013t0009 a0001c0015t0034 a0002c0004t0002 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012 a0002c0008t0011 a0002c0008t0044 a0002c0014t0009	a0001c0001t0001g0120 a0001c0001t0002g0015 a0001c0001t0002g0077 others(91): Show a0001c0001t0001g0120 a0001c0001t0002g0015 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0003g0061 a0001c0001t0003g0093 a0001c0001t0007g0027 a0001c0001t0008g0014 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 a0001c0001t0048g0107 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0006g0062 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0003t0003g0049 a0001c0003t0003g0060 a0001c0003t0004g0042 a0001c0003t0015g0108 a0001c0003t0031g0016 a0001c0003t0037g0121 a0001c0003t0038g0106 a0001c0003t0041g0047 a0001c0003t0047g0128 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0009g0038 a0001c0006t0013g0029 a0001c0006t0033g0035 a0001c0007t0027g0006 a0001c0009t0005g0059 a0001c0011t0002g0116 a0001c0013t0009g0078 a0001c0015t0034g0110 a0002c0004t0002g0012 a0002c0004t0002g0013 a0002c0004t0006g0084 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0008t0011g0073 a0002c0008t0044g0063 a0002c0014t0009g0072	94	128	0.7344	22	c.210 others(41): Show c.2100+1928_2100+1929insTTTATATATAATATATAAATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115270363	A A	ATATAAAT others(15): Show ATATAAATCTTTTATATATAATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0008 a0001c0007t0030g0008	1	128	0.0078	22	c.210 others(41): Show c.2100+1928_2100+1929insTTTATATATAATGTATAAATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp2 NA19240.hp1 HG02809.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0001t0043 a0001c0003t0038 a0001c0001t0015 a0001c0001t0043 a0001c0003t0038	a0001c0001t0015g0064 a0001c0001t0043g0094 a0001c0003t0038g0106 a0001c0001t0015g0064 a0001c0001t0043g0094 a0001c0003t0038g0106	3	128	0.0234	22	c.317 others(43): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG03453.hp2 HG02615.hp2 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017	a0001c0001t0007g0027 a0001c0001t0016g0031 a0001c0001t0017g0028 a0001c0001t0007g0027 a0001c0001t0016g0031 a0001c0001t0017g0028	3	128	0.0234	22	c.326 others(41): Show c.3269+8524_3269+8525insTTTTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG03486.hp1 HG02055.hp1 HG02559.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0010 a0002c0004t0002 a0001c0001t0010 a0002c0004t0002	a0001c0001t0010g0018 a0001c0001t0010g0034 a0002c0004t0002g0013 a0001c0001t0010g0018 a0001c0001t0010g0034 a0002c0004t0002g0013	3	128	0.0234	22	c.332 others(43): Show c.3322+15981_3322+16002dupCTCTCTCTCTCTCTCTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0037 a0001c0002t0005g0037	1	128	0.0078	22	c.332 others(43): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02015.hp2 HG02615.hp1 others(4): Show HG00735.hp1 HG02015.hp2 HG02615.hp1 HG02895.hp2 NA18957.hp1 NA18994.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0003	a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0051 others(4): Show a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0003t0003g0049	7	128	0.0547	22	c.332 others(43): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115559443	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0071 a0001c0012t0001g0071	1	128	0.0078	22	c.379 others(41): Show c.3795+9908_3795+9909insTGTGTGTGTGTGTGTGTGCGCG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115646036	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0079	1	128	0.0078	22	c.379 others(43): Show c.3796-81200_3796-81179dupCACACACACACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713449	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02572.hp1 others(6): Show HG00735.hp2 HG01891.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG02976.hp1 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0005t0018	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 others(6): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0008g0030 a0001c0001t0019g0020 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0001t0048g0107 a0001c0005t0018g0003	9	128	0.0703	22	c.379 others(43): Show c.3796-13782_3796-13781insGTGTTTGTGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	128	0.0078	22	c.390 others(43): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTTTTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02135.hp1 HG02615.hp1 others(3): Show HG00738.hp1 HG02135.hp1 HG02615.hp1 HG02895.hp2 NA18906.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0031 a0001c0001t0001 a0001c0002t0001 a0001c0003t0031	a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0002t0001g0041 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0003t0031g0016	6	128	0.0469	22	c.401 others(41): Show c.4018+8438_4018+8459dupAAAAAAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871473	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	128	0.0078	22	c.401 others(43): Show c.4018+23483_4018+23484insATATATATATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01169.hp2 others(19): Show HG00099.hp1 HG00621.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02165.hp1 HG02293.hp1 HG03195.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA19075.hp1 NA20805.hp1	a0001 a0013 a0017 a0001 a0013 a0017	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0013c0024 a0017c0032	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0007t0003 a0013c0024t0003 a0017c0032t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0043 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0002t0003g0063 a0001c0002t0003g0083 a0001c0002t0003g0147 a0001c0002t0003g0220 a0001c0002t0006g0018 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0073 a0001c0007t0003g0193 a0013c0024t0003g0054 a0017c0032t0001g0195	22	220	0.1000	22	c.346 others(39): Show c.3469+645_3469+646insTATATATATATATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77556295	A A	AAGAGGGA others(15): Show AAGAGGGAGAGAGGGGAAGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0005 a0001c0001t0008g0006	2	218	0.0092	22	c.669 others(41): Show c.6699+1134_6699+1155dupCCCTCTTCCCCTCTCTCCCTCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03831.hp2 HG02809.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0005 a0002c0002t0001 a0001c0005t0005 a0002c0002t0001	a0001c0005t0005g0082 a0002c0002t0001g0028 a0001c0005t0005g0082 a0002c0002t0001g0028	2	218	0.0092	22	c.621 others(41): Show c.6217+4229_6217+4250dupTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	218	0.0046	22	c.455 others(39): Show c.4557+875_4557+896dupTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77673941	G G	GCTTGAAC others(15): Show GCTTGAACAAGAAAAAAGGTTTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	218	0.0046	22	c.380 others(41): Show c.3809+2263_3809+2284dupTAAACCTTTTTTCTTGTTCAAG	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(15): Show CTATAAATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02965.hp1 HG03209.hp1 others(1): Show HG01099.hp1 HG02965.hp1 HG03209.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0003g0085 a0001c0001t0007g0070 a0002c0002t0001g0022 others(1): Show a0001c0001t0003g0085 a0001c0001t0007g0070 a0002c0002t0001g0022 a0002c0002t0001g0204	4	218	0.0184	22	c.-49 others(33): Show c.-4990_-4989insTATATATATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(15): Show AAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	316	0.0032	22	c.117 others(43): Show c.1173+11227_1173+11228insAAAAAAATAATAATAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45780482	G G	GCAGACCT others(15): Show GCAGACCTAGGTTCAACCCTGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG01109.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0032 a0001c0001t0001g0033	2	316	0.0063	22	c.117 others(43): Show c.1174-26456_1174-26455insTCAGACCTAGGTTCAACCCTGG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG03130.hp1 HG02257.hp2 HG02615.hp1 HG03130.hp1	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0006 a0007c0009 a0003c0003 a0005c0006 a0007c0009	a0003c0003t0001 a0005c0006t0003 a0007c0009t0049 a0003c0003t0001 a0005c0006t0003 a0007c0009t0049	a0003c0003t0001g0039 a0005c0006t0003g0006 a0007c0009t0049g0005 a0003c0003t0001g0039 a0005c0006t0003g0006 a0007c0009t0049g0005	3	182	0.0165	22	c.-16 others(43): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0018 a0032c0045t0018	a0032c0045t0018g0059 a0032c0045t0018g0059	1	182	0.0055	22	c.-36 others(41): Show c.-360-3377_-360-3376insGTGTATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar

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