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	25465783	C C	CTCTTTCT others(21): Show CTCTTTCTCTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0089 a0001c0004t0005g0089	1	122	0.0082	28	c.77- others(43): Show c.77-3187_77-3186insCTCTTTCTCTCTTTCTTTCTTTCTTTCT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25609531	T T	TATTTGGG others(21): Show TATTTGGGATTCAAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp2 HG02015.hp1 others(13): Show HG00738.hp1 HG01358.hp2 HG02015.hp1 HG02258.hp1 HG02273.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp2 HG03540.hp2 NA18952.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0016	a0001c0001t0002 a0001c0001t0008 a0001c0001t0050 others(13): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0050 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0014 a0001c0003t0060 a0001c0003t0065 a0001c0003t0069 a0001c0005t0012 a0001c0010t0012 a0001c0010t0056 a0001c0016t0045	a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0050g0025 others(13): Show a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0050g0025 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0008g0010 a0001c0003t0009g0107 a0001c0003t0014g0111 a0001c0003t0060g0115 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0005t0012g0020 a0001c0010t0012g0091 a0001c0010t0056g0006 a0001c0016t0045g0105	16	122	0.1312	28	c.221 others(49): Show c.2211+19832_2211+19833insATTTGGGATTCAAATATATATATA TATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36			chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0107 a0001c0003t0009g0107	1	122	0.0082	28	c.318 others(49): Show c.3183+26839_3183+26866dupTATATATATATATATATATATATA TATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20129.hp2 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0050 a0001c0009t0038 a0001c0001t0050 a0001c0009t0038	a0001c0001t0050g0025 a0001c0009t0038g0112 a0001c0001t0050g0025 a0001c0009t0038g0112	2	122	0.0164	28	c.318 others(49): Show c.3183+30096_3183+30097insTCTCTCTCTCTCTCTCTCTCTCTC TCTC	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(21): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02698.hp1 HG02698.hp2 others(3): Show HG02280.hp2 HG02698.hp1 HG02698.hp2 HG03139.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0048 a0001c0002t0001 others(3): Show a0001c0001t0005 a0001c0001t0048 a0001c0002t0001 a0001c0002t0006 a0001c0002t0071 a0001c0004t0022	a0001c0001t0005g0102 a0001c0001t0048g0122 a0001c0002t0001g0083 others(3): Show a0001c0001t0005g0102 a0001c0001t0048g0122 a0001c0002t0001g0083 a0001c0002t0006g0119 a0001c0002t0071g0096 a0001c0004t0022g0054	6	122	0.0492	28	c.318 others(49): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTTTTTTTTTT TTTT	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(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp2 HG06807.hp2 HG02647.hp2 HG03486.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0040 a0004c0004t0047 a0001c0001t0002 a0001c0001t0040 a0004c0004t0047	a0001c0001t0002g0279 a0001c0001t0040g0148 a0004c0004t0047g0204 a0001c0001t0002g0279 a0001c0001t0040g0148 a0004c0004t0047g0204	3	314	0.0096	28	c.353 others(45): Show c.3532-171_3532-170insTACACACACACACACACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57649190	A A	ATATCTAT others(21): Show ATATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01243.hp1 others(34): Show HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02895.hp1 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03704.hp2 HG04115.hp1 NA18612.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18964.hp1 NA18968.hp1 NA18982.hp1 NA18984.hp2 NA18991.hp1 NA19001.hp2 NA19065.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0011	a0001c0001 a0001c0016 a0003c0003 others(2): Show a0001c0001 a0001c0016 a0003c0003 a0010c0010 a0011c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023 a0001c0001t0027 a0001c0001t0043 a0001c0016t0045 a0003c0003t0022 a0010c0010t0006 a0011c0015t0010	a0001c0001t0002g0201 a0001c0001t0002g0218 a0001c0001t0002g0220 others(34): Show a0001c0001t0002g0201 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0004g0044 a0001c0001t0004g0126 a0001c0001t0005g0029 a0001c0001t0005g0036 a0001c0001t0005g0042 a0001c0001t0005g0065 a0001c0001t0005g0136 a0001c0001t0005g0140 a0001c0001t0006g0074 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0007g0226 a0001c0001t0007g0247 a0001c0001t0009g0225 a0001c0001t0009g0253 a0001c0001t0010g0169 a0001c0001t0010g0170 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0012g0150 a0001c0001t0013g0271 a0001c0001t0015g0177 a0001c0001t0023g0168 a0001c0001t0027g0307 a0001c0001t0043g0299 a0001c0016t0045g0278 a0003c0003t0022g0135 a0010c0010t0006g0028 a0011c0015t0010g0155	37	314	0.1178	28	c.353 others(45): Show c.3532-506_3532-479dupGATAGATAGATAGATAGATAGATAGATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02300.hp2 HG04115.hp2 HG02083.hp1 HG02300.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0264 a0001c0001t0005g0042 a0001c0001t0009g0235 a0001c0001t0003g0264 a0001c0001t0005g0042 a0001c0001t0009g0235	3	314	0.0096	28	c.163 others(47): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713157	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	314	0.0032	28	c.182 others(45): Show c.182-6598_182-6571dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18991.hp2 HG06807.hp1 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0037 a0001c0001t0004 a0002c0002t0037	a0001c0001t0004g0019 a0002c0002t0037g0175 a0001c0001t0004g0019 a0002c0002t0037g0175	2	314	0.0064	28	c.182 others(45): Show c.182-6610_182-6609insGGAAGGAAAGAAAGAAAGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	314	0.0032	28	c.182 others(45): Show c.182-6654_182-6653insAGAAAGAAGGAAGGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp2 HG02080.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0251 a0001c0001t0001g0125 a0001c0001t0002g0251	2	314	0.0064	28	c.182 others(45): Show c.182-6654_182-6653insAGAAAGAAAGAAGGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756192	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG02809.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0151 a0001c0001t0020g0193 a0001c0001t0010g0151 a0001c0001t0020g0193	2	314	0.0064	28	c.-25 others(47): Show c.-25-24361_-25-24360insATATATATATATATATATATATATAT AT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0159 a0001c0001t0011g0159	1	314	0.0032	28	c.-25 others(47): Show c.-25-24474_-25-24473insCATATATATATATATATATATATATA TA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57794792	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0005 a0001c0001t0032g0005	1	314	0.0032	28	c.-26 others(45): Show c.-26+8178_-26+8205dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1787659	A A	ACGGAGGT others(21): Show ACGGAGGTTGCAGTGAGCCGAGATCACAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0340 a0003c0005t0005g0340	1	390	0.0026	28	c.307 others(45): Show c.3070-501_3070-474dupGTGTGATCTCGGCTCACTGCAACCTCCG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50027379	G G	GTGGATGG others(21): Show GTGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	254	0.0079	28	c.362 others(47): Show c.362+11361_362+11388dupTCCATCCATCCATCCATCCATCCATC CA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01175.hp1 others(9): Show HG00735.hp2 HG01099.hp1 HG01175.hp1 HG01243.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp2 HG02451.hp1 HG02486.hp1 HG03490.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 others(6): Show a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0021 a0001c0003t0018 a0001c0003t0079	a0001c0002t0005g0065 a0001c0002t0005g0189 a0001c0002t0007g0006 others(9): Show a0001c0002t0005g0065 a0001c0002t0005g0189 a0001c0002t0007g0006 a0001c0002t0011g0052 a0001c0002t0013g0055 a0001c0002t0016g0053 a0001c0002t0016g0056 a0001c0002t0020g0102 a0001c0002t0021g0226 a0001c0002t0021g0300 a0001c0003t0018g0188 a0001c0003t0079g0312	12	312	0.0385	28	c.166 others(47): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(21): Show GAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG01255.hp1 others(3): Show HG00544.hp1 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG02258.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 a0001c0002t0002 a0001c0003t0008	a0001c0001t0002g0246 a0001c0001t0002g0296 a0001c0001t0006g0104 others(3): Show a0001c0001t0002g0246 a0001c0001t0002g0296 a0001c0001t0006g0104 a0001c0001t0024g0045 a0001c0002t0002g0161 a0001c0003t0008g0236	6	312	0.0192	28	c.166 others(47): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTCC CT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(21): Show GAGGGAGGAAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 NA18986.hp1 HG00609.hp1 HG00609.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0081 a0001c0001t0003 a0001c0001t0004 a0001c0001t0081	a0001c0001t0003g0263 a0001c0001t0004g0106 a0001c0001t0081g0058 a0001c0001t0003g0263 a0001c0001t0004g0106 a0001c0001t0081g0058	3	312	0.0096	28	c.166 others(47): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTCCCTTCCTCC CT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635822	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp2 HG02258.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0138 a0001c0003t0015g0151 a0001c0003t0015g0138 a0001c0003t0015g0151	2	312	0.0064	28	c.166 others(47): Show c.1668+3520_1668+3521insCCCTTCCTTCCTTCCTTCCTTCCTTC CT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0295 a0001c0007t0001g0295	1	312	0.0032	28	c.69- others(45): Show c.69-18971_69-18970insGTCTGTCTGTCTATCTATCTATCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0106 a0001c0011t0006g0106	1	298	0.0034	28	c.110 others(49): Show c.1107+17766_1107+17767insTATATATATATATATATACACACA CACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CCATATAT others(21): Show CCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp1 HG02027.hp2 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0007 a0001c0006t0003 a0001c0006t0007	a0001c0006t0003g0267 a0001c0006t0007g0285 a0001c0006t0003g0267 a0001c0006t0007g0285	2	298	0.0067	28	c.126 others(47): Show c.1268+2716_1268+2717insCATATATATATATATATATATATATA TA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0103 a0001c0004t0003g0103	1	298	0.0034	28	c.126 others(47): Show c.1268+2719_1268+2746dupTATATATATATATATATATATATATA TA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256284	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0128 a0001c0003t0003g0128	1	298	0.0034	28	c.126 others(47): Show c.1268+2746_1268+2747insTATATATATATATATATATATATACA TA	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(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0272 a0004c0008t0001g0272	1	298	0.0034	28	c.126 others(47): Show c.1268+2746_1268+2747insTATATATATATATATATACACACACA CA	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(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	298	0.0034	28	c.126 others(47): Show c.1268+2746_1268+2747insTATATATATATATATATATACACACA CA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79363374	C C	CCGGATTG others(21): Show CCGGATTGAGAGACGTAAACAGATGTTCA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	28	c.301 others(47): Show c.3012+3912_3012+3913insCGGATTGAGAGACGTAAACAGATGTT CA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79363385	G G	GACGTAAA others(21): Show GACGTAAACAGATGTTCATGGATTGAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(284): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0003 a0001c0004 others(33): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0024 a0001c0025 a0001c0026 a0001c0037 a0001c0038 a0002c0002 a0002c0005 a0002c0032 a0002c0033 a0003c0007 a0003c0020 a0003c0021 a0005c0009 a0005c0016 a0006c0012 a0007c0031 a0008c0030 a0009c0034 a0010c0029 a0011c0035 a0012c0018 a0013c0023 a0014c0022 a0015c0027 a0016c0028 a0017c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0001 a0001c0010t0004 a0001c0011t0006 a0001c0013t0004 a0001c0014t0006 a0001c0015t0001 a0001c0017t0004 a0001c0024t0004 a0001c0025t0001 a0001c0026t0001 a0001c0037t0003 a0001c0038t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0032t0005 a0002c0033t0002 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0005c0009t0005 a0005c0016t0001 a0006c0012t0003 a0007c0031t0002 a0008c0030t0001 a0009c0034t0002 a0010c0029t0004 a0011c0035t0002 a0012c0018t0002 a0013c0023t0001 a0014c0022t0004 a0015c0027t0003 a0016c0028t0012 a0017c0019t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(284): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0079 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 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 a0001c0004t0001g0016 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0002g0109 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0024t0004g0058 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0037t0003g0104 a0001c0038t0001g0265 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0002c0032t0005g0195 a0002c0033t0002g0214 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170 a0005c0016t0001g0169 a0005c0016t0001g0171 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0007c0031t0002g0251 a0008c0030t0001g0254 a0009c0034t0002g0186 a0010c0029t0004g0220 a0011c0035t0002g0201 a0012c0018t0002g0114 a0013c0023t0001g0042 a0014c0022t0004g0276 a0015c0027t0003g0139 a0016c0028t0012g0144 a0017c0019t0002g0076	287	298	0.9631	28	c.301 others(47): Show c.3012+3939_3012+3940insATGGATTGAGACACGTAAACAGATGT TC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79363538	G G	GTTCCTGG others(21): Show GTTCCTGGATTGAGAGGCGTAAACCCATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02976.hp2 others(1): Show HG02257.hp2 HG02965.hp1 HG02976.hp2 HG03486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 others(1): Show a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282	4	298	0.0134	28	c.301 others(47): Show c.3012+4098_3012+4125dupACCCATATTCCTGGATTGAGAGGCGT AA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	328	0.0031	28	c.733 others(43): Show c.733-489_733-462dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0117 a0001c0001t0036g0117	1	128	0.0078	28	c.153 others(49): Show c.1533-10676_1533-10649dupGAGAGAGAGAGAGAGAGAGAGAGA GAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0117 a0001c0001t0036g0117	1	128	0.0078	28	c.317 others(49): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(21): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0020 a0001c0001t0019g0020	1	128	0.0078	28	c.332 others(49): Show c.3322+15975_3322+16002dupCTCTCTCTCTCTCTCTCTCTCTCT CTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0119 a0001c0001t0011g0119	1	128	0.0078	28	c.401 others(47): Show c.4018+8459_4018+8460insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18985.hp1 HG01884.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0001c0007 a0002c0004	a0001c0007t0006 a0002c0004t0004 a0001c0007t0006 a0002c0004t0004	a0001c0007t0006g0201 a0002c0004t0004g0153 a0001c0007t0006g0201 a0002c0004t0004g0153	2	220	0.0091	28	c.411 others(47): Show c.411-23145_411-23144insATATATATATATATATATATATTTTT TT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19240.hp2 NA19075.hp1 NA19240.hp2	a0001 a0017 a0001 a0017	a0001c0002 a0017c0032 a0001c0002 a0017c0032	a0001c0002t0003 a0017c0032t0001 a0001c0002t0003 a0017c0032t0001	a0001c0002t0003g0146 a0017c0032t0001g0195 a0001c0002t0003g0146 a0017c0032t0001g0195	2	220	0.0091	28	c.221 others(45): Show c.2215-161_2215-160insGTCTGTCTATCTATCTATCTATCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	220	0.0046	28	c.221 others(45): Show c.2215-161_2215-160insGTCTGTCTGTCTATCTATCTATCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0133 a0001c0001t0012g0133	1	220	0.0046	28	c.346 others(45): Show c.3469+645_3469+646insTATATATATATATATATATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	218	0.0046	28	c.455 others(45): Show c.4557+869_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(21): Show CTATAAATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03471.hp1 NA21309.hp1 HG02970.hp2 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0007 a0001c0005t0005 a0001c0001t0003 a0001c0001t0007 a0001c0005t0005	a0001c0001t0003g0162 a0001c0001t0007g0067 a0001c0005t0005g0076 a0001c0001t0003g0162 a0001c0001t0007g0067 a0001c0005t0005g0076	3	218	0.0138	28	c.-49 others(39): Show c.-4990_-4989insTATATATATATATATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0029 a0002c0005t0001g0029	1	322	0.0031	28	c.589 others(43): Show c.5898+55_5898+82dupTATATATATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142516983	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	322	0.0031	28	c.438 others(47): Show c.4383-1469_4383-1468insTATATATATATATATATATATATATA TA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	322	0.0031	28	c.335 others(47): Show c.3358-1723_3358-1696dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45753377	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	316	0.0032	28	c.117 others(49): Show c.1173+12860_1173+12887dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45773445	A A	ATTATTTA others(21): Show ATTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0301 a0001c0001t0016g0301	1	316	0.0032	28	c.117 others(49): Show c.1173+32910_1173+32937dupATTTATTTATTTATTTATTTATTT ATTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02055.hp1 HG02622.hp2	a0001 a0024 a0001 a0024	a0001c0029 a0024c0018 a0001c0029 a0024c0018	a0001c0029t0048 a0024c0018t0001 a0001c0029t0048 a0024c0018t0001	a0001c0029t0048g0031 a0024c0018t0001g0009 a0001c0029t0048g0031 a0024c0018t0001g0009	2	182	0.0110	28	c.-16 others(49): Show c.-161+45323_-161+45324insCTTTCTTTTTTTTTTTTTTTTTTT TTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01257.hp1 HG01258.hp1 others(22): Show HG00408.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG02055.hp2 HG02056.hp1 HG02135.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02896.hp1 HG03492.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18972.hp1 NA18973.hp1 NA18993.hp1 NA19007.hp2 NA20300.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0013 a0017 a0023 a0025 a0027 a0038	a0002c0002 a0002c0004 a0003c0003 others(15): Show a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0031 a0006c0008 a0006c0046 a0008c0012 a0009c0042 a0011c0007 a0013c0013 a0017c0022 a0023c0034 a0023c0035 a0025c0062 a0027c0049 a0038c0033	a0002c0002t0002 a0002c0002t0041 a0002c0004t0017 others(16): Show a0002c0002t0002 a0002c0002t0041 a0002c0004t0017 a0003c0003t0037 a0004c0005t0002 a0004c0015t0001 a0004c0031t0002 a0006c0008t0040 a0006c0046t0001 a0008c0012t0005 a0009c0042t0011 a0011c0007t0002 a0013c0013t0005 a0017c0022t0001 a0023c0034t0002 a0023c0035t0001 a0025c0062t0038 a0027c0049t0003 a0038c0033t0002	a0002c0002t0002g0089 a0002c0002t0041g0079 a0002c0004t0017g0121 others(22): Show a0002c0002t0002g0089 a0002c0002t0041g0079 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0037g0150 a0004c0005t0002g0096 a0004c0005t0002g0177 a0004c0015t0001g0152 a0004c0015t0001g0176 a0004c0031t0002g0101 a0006c0008t0040g0154 a0006c0046t0001g0012 a0008c0012t0005g0078 a0008c0012t0005g0092 a0008c0012t0005g0168 a0009c0042t0011g0047 a0011c0007t0002g0169 a0013c0013t0005g0100 a0017c0022t0001g0104 a0017c0022t0001g0146 a0023c0034t0002g0124 a0023c0035t0001g0064 a0025c0062t0038g0087 a0027c0049t0003g0149 a0038c0033t0002g0004	25	182	0.1374	28	c.-16 others(49): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18946.hp2 HG01168.hp2 NA18946.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0030 a0001c0001 a0015c0030	a0001c0001t0029 a0015c0030t0014 a0001c0001t0029 a0015c0030t0014	a0001c0001t0029g0145 a0015c0030t0014g0102 a0001c0001t0029g0145 a0015c0030t0014g0102	2	182	0.0110	28	c.-36 others(47): Show c.-361+1556_-361+1557insATATATATATATATATATATATATAT AT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar

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