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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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
ANTKMT_chr16_716146_727590	720215	ACGGGTGT others(32): Show ACGGGTGTTCAGCCCTACCCTGGGTGTGGAGGTCGTGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02723.hp1 others(8): Show HG01168.hp2 HG01169.hp1 HG02723.hp1 HG02738.hp2 HG02976.hp2 HG03688.hp2 HG04199.hp2 HG04228.hp2 NA18952.hp1 NA19083.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001	11	392	0.0281	-39	c.-10 others(50): Show c.-1059_-1021delCGGGTGTTCAGCCCTACCCTGGGTGTGGAGGTCG TGGCC	ANTKMT	ENSG00000103254.10	transcript	ENST00000569529.6	protein_coding		930		chr16	TogoVar
ANTXR1_chr2_69008179_69254327	69096280	GGAAGGAA others(32): Show GGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	206	0.0049	-39	c.703 others(56): Show c.703+5363_703+5401delAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3D1_chr19_2095988_2156566	2125057	CACATAAA others(32): Show CACATAAATCTCAGAAATCACCGCTAAAGAACTGATCCCT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0323 a0001c0002t0001g0323	1	406	0.0025	-39	c.857 others(56): Show c.857-1217_857-1179delAGGGATCAGTTCTTTAGCGGTGATTTCT GAGATTTATGT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	9/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128475	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01993.hp2 others(8): Show HG00642.hp2 HG00738.hp1 HG01993.hp2 HG02071.hp2 HG02895.hp2 NA18612.hp1 NA18747.hp1 NA18973.hp2 NA19002.hp2 NA19003.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0124 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0003g0367 a0001c0001t0003g0379 a0001c0001t0003g0385	11	406	0.0271	-39	c.806 others(54): Show c.806+576_806+614delTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128633	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	406	0.0025	-39	c.806 others(54): Show c.806+418_806+456delTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128712	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG03669.hp2 others(4): Show HG02615.hp2 HG03225.hp2 HG03669.hp2 HG04199.hp1 HG06807.hp2 NA18983.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0003t0002 a0001c0004t0002	a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0179 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0179 a0001c0001t0010g0397 a0001c0002t0001g0259 a0001c0003t0002g0053 a0001c0004t0002g0147	7	406	0.0172	-39	c.806 others(54): Show c.806+339_806+377delTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128784	CCCCCGCC others(32): Show CCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0327 a0001c0003t0002g0327	1	406	0.0025	-39	c.806 others(54): Show c.806+267_806+305delCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128791	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02040.hp2 HG01978.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0112 a0001c0003t0002g0037 a0001c0001t0001g0112 a0001c0003t0002g0037	2	406	0.0049	-39	c.806 others(54): Show c.806+260_806+298delTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APBB1IP_chr10_26433341_26572803	26449997	CCCTGTCT others(32): Show CCCTGTCTTAAAAAAAAAAGTGCTTGAGTATCAGCAACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp2 HG02132.hp1 others(1): Show HG00408.hp1 HG02080.hp2 HG02132.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 others(1): Show a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322	4	358	0.0112	-39	c.-1+ others(56): Show c.-1+11151_-1+11189delTTAAAAAAAAAAGTGCTTGAGTATCAGC AACATCCTGTC	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40982194	GGAAAGAA others(32): Show GGAAAGAAAGAAAAGAAAGAAAAGAAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0050 a0002c0001t0050	a0002c0001t0050g0188 a0002c0001t0050g0188	1	192	0.0052	-39	c.835 others(58): Show c.835+31350_835+31388delTTTCTTTCTTTCCTTTCTTTTCTTTC TTTTCTTTCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0150 a0002c0001t0016g0150	1	192	0.0052	-39	c.-41 others(60): Show c.-416-16858_-416-16820delTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
AQP2_chr12_49945737_49963878	49957097	ATTTCATT others(32): Show ATTTCATTATTTCTGCTTCCTGGGGGAAGGATGCAGAAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0001 a0001c0001t0040g0001	1	442	0.0023	-39	c.14 others(50): Show c.1490_*1528delTTTCATTATTTCTGCTTCCTGGGGGAAGGATGCA GAAGG	AQP2	ENSG00000167580.8	transcript	ENST00000199280.4	protein_coding	4/4	1490		chr12	TogoVar
AQP5_chr12_49956872_49970682	49957097	ATTTCATT others(32): Show ATTTCATTATTTCTGCTTCCTGGGGGAAGGATGCAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	466	0.0022	-39	c.-49 others(50): Show c.-4920_-4882delTTTCATTATTTCTGCTTCCTGGGGGAAGGATGCA GAAGG	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding		4774		chr12	TogoVar
ARFIP1_chr4_152774954_152917357	152867031	GGCTCCTC others(32): Show GGCTCCTCACATCCCAGACGATGGGCAGCCAGGCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG02976.hp2 others(3): Show HG01243.hp2 HG02886.hp1 HG02976.hp2 HG03130.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0322 a0001c0001t0004g0323 others(3): Show a0001c0001t0004g0096 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0326 a0001c0001t0004g0337	6	342	0.0175	-39	c.202 others(56): Show c.202+3327_202+3365delATCCCAGACGATGGGCAGCCAGGCAGAG ACGCTCCTCAC	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152867041	ATCCCAGA others(32): Show ATCCCAGACGATGGGCAGCCAGGCAGAGACGCTCCTCACT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG03098.hp1 HG02451.hp2 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032	3	342	0.0088	-39	c.202 others(56): Show c.202+3337_202+3375delATGGGCAGCCAGGCAGAGACGCTCCTCA CTTCCCAGACG	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP15_chr2_143124419_143773352	143153813	TTCTTCTT others(32): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	162	0.0062	-39	c.-14 others(56): Show c.-14-1661_-14-1623delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCCTCCTC	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143153840	TTCTTCCT others(32): Show TTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	162	0.0062	-39	c.-14 others(56): Show c.-14-1634_-14-1596delTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCCTCCTC	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP23_chr17_38423464_38517385	38453796	TCCGGGGG others(32): Show TCCGGGGGGCGGGCGGGGACCCCCGGGGCCCGCCGGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0065 a0001c0031t0003g0065	1	309	0.0032	-39	c.64- others(54): Show c.64-4297_64-4259delCGGGCGGGGACCCCCGGGGCCCGCCGGCCG CCCGGGGGG	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARHGAP42_chr11_100682288_100998941	100921213	ACATATAT others(32): Show ACATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	286	0.0035	-39	c.487 others(54): Show c.487-280_487-242delCATATATATATATATATATATATATATATA TATTTTTTT	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	5/23			chr11	TogoVar
ARHGAP45_chr19_1062167_1091628	1062875	ACCCCATA others(32): Show ACCCCATACTCATGCTGGCTCCACCCACACCATGGCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp2 others(11): Show HG00280.hp1 HG00639.hp1 HG00738.hp2 HG01074.hp1 HG01258.hp1 HG02074.hp1 HG02698.hp1 HG02735.hp2 HG03239.hp1 HG04199.hp1 NA18960.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0013	a0001c0002 a0001c0004 a0005c0016 others(2): Show a0001c0002 a0001c0004 a0005c0016 a0007c0014 a0013c0033	a0001c0002t0001 a0001c0004t0005 a0001c0004t0016 others(3): Show a0001c0002t0001 a0001c0004t0005 a0001c0004t0016 a0005c0016t0001 a0007c0014t0001 a0013c0033t0005	a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0198 others(10): Show a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0198 a0001c0002t0001g0241 a0001c0002t0001g0256 a0001c0002t0001g0270 a0001c0004t0005g0209 a0001c0004t0005g0274 a0001c0004t0005g0275 a0001c0004t0016g0273 a0005c0016t0001g0222 a0007c0014t0001g0055 a0013c0033t0005g0233	14	418	0.0335	-39	c.-45 others(50): Show c.-4530_-4492delCCCCATACTCATGCTGGCTCCACCCACACCATGG CCCCG	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4291		chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1063297	TGCCCCAC others(32): Show TGCCCCACACCCATCCCAGCTCCACCCACACCATGGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0210 a0005c0006t0001g0210	1	418	0.0024	-39	c.-41 others(50): Show c.-4108_-4070delGCCCCACACCCATCCCAGCTCCACCCACACCATG GCCCC	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		3869		chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1825072	CGCACTCC others(32): Show CGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00673.hp1 others(23): Show HG00140.hp1 HG00423.hp2 HG00673.hp1 HG02040.hp1 HG02132.hp2 HG03017.hp1 HG03486.hp2 HG03669.hp1 HG03834.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18980.hp2 NA18990.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0003 a0001c0004 a0001c0009 others(19): Show a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0015 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0037 a0001c0115 a0001c0117 a0001c0118 a0001c0131 a0001c0140 a0002c0027 a0002c0032 a0002c0061 a0002c0075 a0003c0051 a0004c0040 a0006c0113	a0001c0003t0068 a0001c0004t0005 a0001c0009t0069 others(21): Show a0001c0003t0068 a0001c0004t0005 a0001c0009t0069 a0001c0010t0008 a0001c0015t0008 a0001c0018t0008 a0001c0018t0025 a0001c0020t0008 a0001c0021t0005 a0001c0026t0008 a0001c0037t0005 a0001c0037t0008 a0001c0115t0005 a0001c0117t0005 a0001c0118t0008 a0001c0131t0005 a0001c0140t0005 a0002c0027t0005 a0002c0032t0005 a0002c0061t0025 a0002c0075t0005 a0003c0051t0005 a0004c0040t0065 a0006c0113t0070	a0001c0003t0068g0338 a0001c0004t0005g0299 a0001c0009t0069g0302 others(23): Show a0001c0003t0068g0338 a0001c0004t0005g0299 a0001c0009t0069g0302 a0001c0010t0008g0307 a0001c0015t0008g0314 a0001c0018t0008g0290 a0001c0018t0008g0295 a0001c0018t0025g0296 a0001c0020t0008g0291 a0001c0020t0008g0315 a0001c0021t0005g0312 a0001c0026t0008g0293 a0001c0037t0005g0308 a0001c0037t0008g0309 a0001c0115t0005g0286 a0001c0117t0005g0305 a0001c0118t0008g0294 a0001c0131t0005g0301 a0001c0140t0005g0297 a0002c0027t0005g0298 a0002c0032t0005g0313 a0002c0061t0025g0292 a0002c0075t0005g0303 a0003c0051t0005g0289 a0004c0040t0065g0181 a0006c0113t0070g0304	26	363	0.0716	-39	c.-48 others(55): Show c.-48+964_-48+1002delTCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCTGCAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF12_chr11_120331413_120494937	120351423	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 NA20129.hp1 others(1): Show HG00735.hp1 HG01358.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0035 others(1): Show a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0035 a0001c0002t0003g0037	4	308	0.0130	-39	c.32+ others(56): Show c.32+14150_32+14188delATATATATATATATATATATATATATAT ATATTTTTTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF18_chr19_7343937_7477478	7362014	AAGGAGAA others(32): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0004 a0007c0014t0004	a0007c0014t0004g0092 a0007c0014t0004g0092	1	298	0.0034	-39	c.-11 others(56): Show c.-110-764_-110-726delGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362131	GAGAAGGA others(32): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0019 a0016c0026t0019	a0016c0026t0019g0046 a0016c0026t0019g0046	1	298	0.0034	-39	c.-11 others(56): Show c.-110-638_-110-600delGAGAAGGAGAAGGAGGAGAAGAAGGAGA AGAAGGAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7385868	TCTCCCCC others(32): Show TCTCCCCCCTCCCTCTCTCCCTCCCTCCCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0024 a0002c0007t0001g0024	1	298	0.0034	-39	c.967 others(56): Show c.967+2669_967+2707delCCCCCTCCCTCTCTCCCTCCCTCCCTCT CTCTCTCCCTC	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF4_chr2_130831914_131052253	130833397	AAAAGAAA others(32): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03209.hp2 NA19030.hp2 others(1): Show HG02486.hp2 HG03209.hp2 NA19030.hp2 NA20129.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0034 a0001c0045 a0006c0005 others(1): Show a0001c0034 a0001c0045 a0006c0005 a0009c0047	a0001c0034t0001 a0001c0045t0001 a0006c0005t0001 others(1): Show a0001c0034t0001 a0001c0045t0001 a0006c0005t0001 a0009c0047t0001	a0001c0034t0001g0111 a0001c0045t0001g0085 a0006c0005t0001g0094 others(1): Show a0001c0034t0001g0111 a0001c0045t0001g0085 a0006c0005t0001g0094 a0009c0047t0001g0110	4	144	0.0278	-39	c.-35 others(50): Show c.-3556_-3518delAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAG	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding		3516		chr2	TogoVar
ARHGEF7_chr13_111110310_111310732	111222238	GAAAATTT others(32): Show GAAAATTTCCCTTTTTTTCCTGTTTATTTTTTAAAATTCA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	274	0.0037	-39	c.670 others(56): Show c.670+4360_670+4398delAAATTTCCCTTTTTTTCCTGTTTATTTT TTAAAATTCAA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL15_chr5_53878942_54315573	54029306	TACCACCA others(32): Show TACCACCACCACCACCACCACCACCACTACCACCACCACC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	206	0.0049	-39	c.462 others(58): Show c.462+83857_462+83895delGGTGGTGGTGGTAGTGGTGGTGGTGG TGGTGGTGGTGGT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARMT1_chr6_151447466_151475101	151450052	GCCTCTGC others(32): Show GCCTCTGCCTGGCCCCCCATCGTCTGGGACGTGAGGAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-39	c.-24 others(50): Show c.-2493_-2455delCCTCTGCCTGGCCCCCCATCGTCTGGGACGTGAG GAGCC	ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding		2413		chr6	TogoVar
ARRDC1_chr9_137600686_137620360	137601229	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	338	0.0030	-39	c.-44 others(50): Show c.-4488_-4450delTATATATATATATATATATATATATATATATTTT TTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4456		chr9	TogoVar
ARSB_chr5_78772209_78990310	78937427	CATATATA others(32): Show CATATATATGATATATATATCTTATATATATAATGAATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0089 a0001c0003t0012g0089	1	360	0.0028	-39	c.898 others(58): Show c.898+17829_898+17867delATATTCATTATATATATAAGATATAT ATATCATATATAT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ASAP1_chr8_130047104_130448674	130072550	TCAGGTAT others(32): Show TCAGGTATGTCTTTATCAGCAGCGTGAAAACGGACTAATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp2 others(100): Show HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19063.hp1 NA19070.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0004t0002 a0001c0007t0001 a0001c0007t0007 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(100): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0277 a0001c0001t0008g0040 a0001c0001t0010g0043 a0001c0001t0011g0045 a0001c0001t0013g0302 a0001c0001t0014g0049 a0001c0001t0014g0153 a0001c0001t0017g0198 a0001c0001t0017g0199 a0001c0001t0024g0209 a0001c0001t0025g0279 a0001c0001t0030g0046 a0001c0001t0031g0289 a0001c0001t0032g0297 a0001c0004t0002g0151 a0001c0004t0002g0157 a0001c0004t0002g0182 a0001c0004t0002g0185 a0001c0004t0002g0189 a0001c0007t0001g0037 a0001c0007t0007g0001 a0001c0008t0001g0244 a0001c0009t0001g0232 a0001c0013t0001g0156	103	308	0.3344	-39	c.270 others(58): Show c.2701+3759_2701+3797delTATTAGTCCGTTTTCACGCTGCTGAT AAAGACATACCTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASB15_chr7_123596821_123644481	123620522	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0325 a0001c0001t0008g0325	1	380	0.0026	-39	c.451 others(56): Show c.451+2787_451+2825delATATATATATATATATATATATATATAT ATATTTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASZ1_chr7_117358222_117432493	117427222	AAACTCCC others(32): Show AAACTCCCGTATTTCCACTGGGTAAAAGGGAAATACACGT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	306	0.0033	-39	c.105 others(53): Show c.105+95_105+133delACGTGTATTTCCCTTTTACCCAGTGGAAATA CGGGAGTT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	1/12			chr7	TogoVar
ATAD2_chr8_123314850_123401447	123314895	GGGTCAGC others(32): Show GGGTCAGCCCCCATAAGCGCTAACTTAAGTTAGCGCTTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02056.hp1 HG03209.hp1 others(1): Show HG00408.hp2 HG02056.hp1 HG03209.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0188 a0001c0001t0001g0240 a0001c0001t0002g0090 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0240 a0001c0001t0002g0090 a0001c0005t0001g0252	4	278	0.0144	-39	c.62 others(50): Show c.6200_*6238delATAAGCGCTAACTTAAGTTAGCGCTTATGGGGGC TGACC	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		4954		chr8	TogoVar
ATAD3A_chr1_1507162_1539685	1516294	TGGTGTTG others(32): Show TGGTGTTGGTGAGGGCGTCTGGTCGTCCGGAGGGAGGGCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0300 a0002c0002t0001g0300	1	420	0.0024	-39	c.282 others(54): Show c.282+237_282+275delGGGAGGGCCGGTGTTGGTGAGGGCGTCTGG TCGTCCGGA	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3A_chr1_1507162_1539685	1528364	CTGAGACC others(32): Show CTGAGACCCCCGTGTCGGGATTCGAAGGAGTCTCTCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02809.hp1 others(8): Show HG02451.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 NA18522.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0003 a0008c0010 a0009c0013 a0001c0003 a0008c0010 a0009c0013	a0001c0003t0001 a0008c0010t0001 a0009c0013t0001 a0001c0003t0001 a0008c0010t0001 a0009c0013t0001	a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0325 others(8): Show a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0329 a0008c0010t0001g0334 a0008c0010t0001g0335 a0009c0013t0001g0321 a0009c0013t0001g0323	11	420	0.0262	-39	c.150 others(56): Show c.1505+522_1505+560delTTCGAAGGAGTCTCTCCTCATGAGACCC CCGTGTCGGGA	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461614	AGGAGAGT others(32): Show AGGAGAGTCTCCTCATGAGACCCCCATGTAGGGACTGGAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0312 a0001c0042t0017g0312	1	410	0.0024	-39	c.980 others(54): Show c.980+704_980+742delTCTCCTCATGAGACCCCCATGTAGGGACTG GAGGGAGAG	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461621	TCTCCTCA others(32): Show TCTCCTCATGAGACCCCCATGTAGGGACTGGAGGGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02132.hp2 HG02602.hp2 others(1): Show HG00099.hp1 HG02132.hp2 HG02602.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0001c0003t0011 a0002c0002t0010 others(1): Show a0001c0003t0005 a0001c0003t0011 a0002c0002t0010 a0002c0002t0084	a0001c0003t0005g0026 a0001c0003t0011g0026 a0002c0002t0010g0117 others(1): Show a0001c0003t0005g0026 a0001c0003t0011g0026 a0002c0002t0010g0117 a0002c0002t0084g0098	4	410	0.0098	-39	c.980 others(54): Show c.980+770_980+808delCTGGAGGGAGAGGCTCCTCATGAGACCCCC ATGTAGGGA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461687	CTGGAGGG others(32): Show CTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG02258.hp2 others(1): Show HG00140.hp2 HG01515.hp1 HG02258.hp2 NA18940.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0002 a0005c0010 a0001c0003 a0002c0002 a0005c0010	a0001c0003t0002 a0002c0002t0038 a0005c0010t0076 a0001c0003t0002 a0002c0002t0038 a0005c0010t0076	a0001c0003t0002g0178 a0001c0003t0002g0196 a0002c0002t0038g0081 others(1): Show a0001c0003t0002g0178 a0001c0003t0002g0196 a0002c0002t0038g0081 a0005c0010t0076g0053	4	410	0.0098	-39	c.980 others(54): Show c.980+804_981-841delAGGGATTGGAGGGAGAGGCTCCTCATGAGA CCCCCATGT	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1461728	GGAGGGAG others(32): Show GGAGGGAGAGGCTCCTCATGAGACCCCCATGTCGGGACTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18964.hp2 NA18967.hp2 others(2): Show HG02735.hp2 NA18964.hp2 NA18967.hp2 NA18998.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0010 a0002c0002t0038 others(2): Show a0001c0001t0001 a0002c0002t0010 a0002c0002t0038 a0002c0002t0083 a0002c0002t0117	a0001c0001t0001g0273 a0002c0002t0010g0024 a0002c0002t0038g0097 others(2): Show a0001c0001t0001g0273 a0002c0002t0010g0024 a0002c0002t0038g0097 a0002c0002t0083g0119 a0002c0002t0117g0024	5	410	0.0122	-39	c.980 others(54): Show c.980+831_981-814delAGACCCCCATGTCGGGACTAGAGGGAGAGG CTCCTCATG	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG14_chr14_55361391_55416830	55402917	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19064.hp1 NA18975.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	2	366	0.0055	-39	c.222 others(56): Show c.222-5522_222-5484delATATATATATATATATATATATATATAT ATTTTTTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308241	TATATATA others(32): Show TATATATATATACACACATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp2 HG01192.hp1 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0200 a0001c0003t0003g0229 a0001c0003t0003g0200 a0001c0003t0003g0229	2	356	0.0056	-39	c.430 others(58): Show c.4303+1173_4303+1211delTATATATATATATATATATATATGTG TGTATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308243	TATATATA others(32): Show TATATATATACACACATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01168.hp1 others(27): Show HG01074.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG02027.hp2 HG02074.hp2 HG02148.hp2 HG02293.hp2 HG02615.hp1 HG02683.hp2 HG04184.hp2 NA18940.hp2 NA18945.hp1 NA18965.hp1 NA18974.hp2 NA18979.hp1 NA18982.hp2 NA18985.hp2 NA18987.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19066.hp2 NA19074.hp2 NA20805.hp2	a0001 a0016 a0001 a0016	a0001c0003 a0001c0011 a0016c0033 a0001c0003 a0001c0011 a0016c0033	a0001c0003t0002 a0001c0003t0003 a0001c0003t0027 others(4): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0027 a0001c0003t0031 a0001c0003t0032 a0001c0011t0003 a0016c0033t0003	a0001c0003t0002g0214 a0001c0003t0003g0008 a0001c0003t0003g0108 others(26): Show a0001c0003t0002g0214 a0001c0003t0003g0008 a0001c0003t0003g0108 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0215 a0001c0003t0003g0216 a0001c0003t0003g0218 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0003t0003g0224 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0230 a0001c0003t0003g0233 a0001c0003t0003g0239 a0001c0003t0027g0017 a0001c0003t0031g0240 a0001c0003t0032g0195 a0001c0011t0003g0019 a0001c0011t0003g0020 a0016c0033t0003g0211	30	356	0.0843	-39	c.430 others(58): Show c.4303+1171_4303+1209delTATATATATATATATATATATATATG TGTGTATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308244	ATATATAT others(32): Show ATATATATACACACATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp1 NA18955.hp2 others(2): Show HG00408.hp2 NA18612.hp1 NA18955.hp2 NA18983.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0016 a0001c0003t0003 a0001c0003t0016	a0001c0003t0003g0232 a0001c0003t0003g0234 a0001c0003t0016g0002 a0001c0003t0003g0232 a0001c0003t0003g0234 a0001c0003t0016g0002	5	356	0.0140	-39	c.430 others(58): Show c.4303+1170_4303+1208delATATATATATATATATATATATATAT GTGTGTATATATA	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATP11A_chr13_112685038_112892168	112766867	GGGTGTGG others(32): Show GGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02738.hp2 HG03540.hp1 others(3): Show HG00099.hp2 HG02738.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0020 others(1): Show a0001c0001 a0001c0004 a0001c0020 a0002c0003	a0001c0001t0055 a0001c0004t0006 a0001c0020t0068 others(2): Show a0001c0001t0055 a0001c0004t0006 a0001c0020t0068 a0002c0003t0002 a0002c0003t0033	a0001c0001t0055g0161 a0001c0004t0006g0109 a0001c0020t0068g0055 others(3): Show a0001c0001t0055g0161 a0001c0004t0006g0109 a0001c0020t0068g0055 a0002c0003t0002g0089 a0002c0003t0002g0119 a0002c0003t0033g0031	6	254	0.0236	-39	c.40- others(56): Show c.40-18266_40-18228delGTGTGGGAGTGCTGGGAGCCCCTGTGGA AAGGTGGGGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767383	GGATGTGG others(32): Show GGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG03098.hp2 others(1): Show HG02572.hp1 HG02572.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0019 others(1): Show a0001c0002 a0001c0004 a0001c0019 a0001c0042	a0001c0002t0013 a0001c0004t0003 a0001c0019t0015 others(1): Show a0001c0002t0013 a0001c0004t0003 a0001c0019t0015 a0001c0042t0044	a0001c0002t0013g0117 a0001c0004t0003g0149 a0001c0019t0015g0147 others(1): Show a0001c0002t0013g0117 a0001c0004t0003g0149 a0001c0019t0015g0147 a0001c0042t0044g0148	4	254	0.0158	-39	c.40- others(56): Show c.40-17741_40-17703delCGTTGGGGGCCCCTGTGGGAAGGTGGGG AGATGTGGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112803952	TCCTCCTT others(32): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02622.hp2 NA18950.hp2 others(5): Show HG00621.hp1 HG02622.hp2 NA18950.hp2 NA18974.hp2 NA19063.hp2 NA19064.hp2 NA19084.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0006t0001 a0001c0006t0056 a0001c0006t0077 a0001c0011t0046 a0003c0007t0011	a0001c0001t0001g0029 a0001c0002t0001g0102 a0001c0002t0013g0211 others(5): Show a0001c0001t0001g0029 a0001c0002t0001g0102 a0001c0002t0013g0211 a0001c0006t0001g0182 a0001c0006t0056g0162 a0001c0006t0077g0159 a0001c0011t0046g0011 a0003c0007t0011g0025	8	254	0.0315	-39	c.163 others(54): Show c.163-997_163-959delTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP4B_chr13_113643804_113663198	113647669	CCTCGAGG others(32): Show CCTCGAGGACTCCGGGCTCACAGCCAACCTGCTGGCACGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02027.hp2 HG02145.hp1 others(10): Show HG01106.hp2 HG02027.hp2 HG02145.hp1 HG02615.hp1 HG03041.hp1 HG03471.hp1 HG04184.hp1 NA18747.hp1 NA18957.hp2 NA18979.hp1 NA18995.hp1 NA19076.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0006c0013	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0005t0002 a0006c0013t0003	a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0005g0117 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0005g0117 a0001c0002t0001g0050 a0001c0002t0001g0065 a0001c0002t0001g0094 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0002t0001g0198 a0001c0002t0001g0204 a0002c0005t0002g0108 a0006c0013t0003g0109	13	456	0.0285	-39	c.16 others(50): Show c.1666_*1704delCCGTGCCAGCAGGTTGGCTGTGAGCCCGGAGTCC TCGAG	ATP4B	ENSG00000186009.5	transcript	ENST00000335288.5	protein_coding		1134		chr13	TogoVar

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