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
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18957.hp1 HG03942.hp2 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0225 a0001c0002t0002g0123 a0001c0002t0002g0225	2	292	0.0069	40	c.696 others(59): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATATTTTTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73158152	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG03486.hp1 others(4): Show HG02257.hp2 HG02622.hp1 HG03486.hp1 NA18955.hp1 NA18963.hp1 NA18998.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0019	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0019t0002	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0002t0002g0096 a0001c0002t0002g0109 a0001c0005t0002g0126 a0001c0019t0002g0141	7	292	0.0240	40	c.705 others(57): Show c.705-1987_705-1986insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD18B_chr9_33519251_33578013	33571836	A A	AGGCGAGA others(33): Show AGGCGAGAGGCAAAGATCCTGAGGTAACAAAGAGCCCTGCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0102 a0003c0015t0002g0102	1	374	0.0027	40	c.322 others(57): Show c.3224-480_3224-479insGGCGAGAGGCAAAGATCCTGAGGTAACA AAGAGCCCTGCT	ANKRD18B	ENSG00000230453.11	transcript	ENST00000684830.1	protein_coding	18/18			chr9	TogoVar
ANKRD1_chr10_90907096_90926087	90918983	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	468	0.0021	40	c.346 others(53): Show c.346-12_346-11insATATATATATATATATATATATATATATATAT ATATATAT	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37167287	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03098.hp1 HG03579.hp2 others(4): Show HG00140.hp2 HG03098.hp1 HG03579.hp2 NA18971.hp1 NA19004.hp2 NA19081.hp1 NA19083.hp2	a0004 a0005 a0007 others(2): Show a0004 a0005 a0007 a0009 a0044	a0004c0004 a0005c0022 a0007c0010 others(2): Show a0004c0004 a0005c0022 a0007c0010 a0009c0011 a0044c0024	a0004c0004t0002 a0005c0022t0001 a0007c0010t0001 others(2): Show a0004c0004t0002 a0005c0022t0001 a0007c0010t0001 a0009c0011t0001 a0044c0024t0001	a0004c0004t0002g0272 a0004c0004t0002g0279 a0004c0004t0002g0285 others(4): Show a0004c0004t0002g0272 a0004c0004t0002g0279 a0004c0004t0002g0285 a0005c0022t0001g0225 a0007c0010t0001g0127 a0009c0011t0001g0256 a0044c0024t0001g0006	7	286	0.0245	40	c.215 others(57): Show c.2155+607_2155+608insTATATATATATATATATATATATATATA TATATATATATA	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD30B_chr18_14743172_14859667	14812188	C C	CAGTCTTT others(33): Show CAGTCTTTTAGGCTTTAGTCGTGCATGTTTGCTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	316	0.0032	40	c.248 others(57): Show c.2489-915_2489-876dupAGTCTTTTAGGCTTTAGTCGTGCATGTT TGCTTTTTTCTT	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD60_chr20_58211126_58233653	58225514	G G	GGTATTTT others(33): Show GGTATTTTGGCCTTCACTGTGCATTTTGAGTTTCCTGCGTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0123 a0001c0008t0001g0123	1	458	0.0022	40	c.431 others(57): Show c.431-2372_431-2333dupGACGCAGGAAACTCAAAATGCACAGTGA AGGCCAAAATAC	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	1/3			chr20	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(33): Show CACACACACACACACACACACACACTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0027 a0005c0004t0004g0027	1	270	0.0037	40	c.417 others(57): Show c.417+2263_417+2264insACACACACACACACACACACACACTATA TATATATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(33): Show CACACACACACACACACACACTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp2 HG00738.hp2 HG01258.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0256 a0005c0004t0004g0257 a0005c0004t0004g0256 a0005c0004t0004g0257	2	270	0.0074	40	c.417 others(57): Show c.417+2263_417+2264insACACACACACACACACACACTATATATA TATATATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(33): Show CACACACACACACACACACTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0006 a0007c0012t0006	a0007c0012t0006g0105 a0007c0012t0006g0105	1	270	0.0037	40	c.417 others(57): Show c.417+2263_417+2264insACACACACACACACACACTATATATATA TATATATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKS1B_chr12_98738974_99989936	98800675	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0012 a0001c0001t0003g0011 a0001c0001t0002g0012 a0001c0001t0003g0011	2	48	0.0417	40	c.327 others(57): Show c.3270+321_3270+322insATATATATATATATATATATATATATAT ATATATATATAT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	21/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99667353	A A	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0021 a0002c0005t0021	a0002c0005t0021g0043 a0002c0005t0021g0043	1	48	0.0208	40	c.112 others(61): Show c.1129-12144_1129-12143insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	8/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99874022	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	48	0.0208	40	c.135 others(59): Show c.135-48634_135-48633insATATATATATATATATATATATATAT ATATATATATATAT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	1/26			chr12	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0001c0004 a0003c0007	a0001c0004t0007 a0003c0007t0001 a0001c0004t0007 a0003c0007t0001	a0001c0004t0007g0302 a0003c0007t0001g0299 a0001c0004t0007g0302 a0003c0007t0001g0299	2	302	0.0066	40	c.441 others(57): Show c.441+7198_441+7199insAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01169.hp2 others(1): Show HG00639.hp1 HG01168.hp1 HG01169.hp2 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0003c0007t0001 a0001c0001t0001 a0001c0001t0004 a0003c0007t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0004g0083 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0004g0083 a0003c0007t0001g0182	4	302	0.0133	40	c.441 others(57): Show c.441+7198_441+7199insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02083.hp1 HG03688.hp1 others(1): Show HG00544.hp1 HG02083.hp1 HG03688.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0002t0001g0045 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0002t0001g0045 a0001c0002t0001g0092	4	302	0.0133	40	c.441 others(57): Show c.441+7202_441+7203insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095251	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02895.hp1 HG01071.hp1 HG02895.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0169 a0003c0010t0001g0181 a0003c0010t0001g0169 a0003c0010t0001g0181	2	302	0.0066	40	c.441 others(57): Show c.441+7202_441+7203insAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095299	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0002 a0001c0001t0016 a0001c0002t0002	a0001c0001t0016g0241 a0001c0002t0002g0237 a0001c0001t0016g0241 a0001c0002t0002g0237	2	302	0.0066	40	c.441 others(57): Show c.441+7218_441+7219insGGAAGGAAAGAAAGAAGGAAGGAAGGAA GGAAGGAAAGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5562500	A A	AAGGAGAG others(33): Show AAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(9): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG01074.hp1 HG01074.hp2 HG01258.hp2 HG01978.hp2 HG02559.hp1 HG02602.hp2 HG04204.hp1 NA20129.hp2 NA20805.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0003c0007 others(4): Show a0001c0001 a0001c0002 a0003c0007 a0003c0011 a0004c0008 a0005c0015 a0007c0013	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0003c0011t0001 a0004c0008t0001 a0005c0015t0001 a0007c0013t0001	a0001c0001t0001g0017 a0001c0002t0001g0012 a0001c0002t0001g0043 others(9): Show a0001c0001t0001g0017 a0001c0002t0001g0012 a0001c0002t0001g0043 a0001c0002t0001g0119 a0001c0002t0001g0121 a0003c0007t0001g0037 a0003c0007t0001g0039 a0003c0011t0001g0072 a0004c0008t0001g0061 a0004c0008t0001g0064 a0005c0015t0001g0077 a0007c0013t0001g0123	12	162	0.0741	40	c.79 others(49): Show c.798_*799insCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding		154		chr12	TogoVar
ANO2_chr12_5557655_5950259	5562562	C C	CGAGAGGA others(33): Show CGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	162	0.0062	40	c.73 others(49): Show c.736_*737insCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding		92		chr12	TogoVar
ANO5_chr11_22188085_22288357	22267508	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	364	0.0028	40	c.189 others(59): Show c.1899-2788_1899-2787insTATATATATATATATATATATATATA TATATATATATATA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22284807	A A	AGAAGAGG others(33): Show AGAAGAGGAGCCAAGATGGCCGAAGAGGAGCCAAGATGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02056.hp2 HG02258.hp1 others(11): Show HG01433.hp1 HG02056.hp2 HG02258.hp1 HG02602.hp1 HG03704.hp2 NA18939.hp1 NA18946.hp1 NA18971.hp2 NA18973.hp1 NA18984.hp1 NA18993.hp2 NA19002.hp1 NA19067.hp1 NA19072.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0023 a0002c0003t0033 others(1): Show a0002c0003t0001 a0002c0003t0023 a0002c0003t0033 a0002c0003t0037	a0002c0003t0001g0177 a0002c0003t0001g0208 a0002c0003t0001g0230 others(11): Show a0002c0003t0001g0177 a0002c0003t0001g0208 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0267 a0002c0003t0001g0288 a0002c0003t0023g0213 a0002c0003t0023g0263 a0002c0003t0033g0265 a0002c0003t0037g0257	14	364	0.0385	40	c.50 others(51): Show c.5042_*5043insGAAGAGGAGCCAAGATGGCCGAAGAGGAGCCAAG ATGGCC	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding		1451		chr11	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	234	0.0043	40	c.151 others(59): Show c.151-14181_151-14180insGTGTGTATATATATATATATATATAT ATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO9_chr11_412938_447011	431600	C C	CGCGGGGG others(33): Show CGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02055.hp1 others(8): Show HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02895.hp2 HG03486.hp1 HG03942.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0012c0017	a0001c0001t0001 a0001c0013t0005 a0001c0013t0008 others(2): Show a0001c0001t0001 a0001c0013t0005 a0001c0013t0008 a0002c0002t0001 a0012c0017t0003	a0001c0001t0001g0116 a0001c0001t0001g0193 a0001c0001t0001g0219 others(7): Show a0001c0001t0001g0116 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0013t0005g0003 a0001c0013t0008g0275 a0002c0002t0001g0016 a0012c0017t0003g0010	11	286	0.0385	40	c.539 others(53): Show c.539+93_539+94insAGACGCCCCCAGATACCCGCGGGTGCCCCCAC ACCCCCGC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANP32E_chr1_150213417_150241112	150221600	G G	GGGAAGGA others(33): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18989.hp1 NA18984.hp1 NA18989.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0068 a0002c0001t0001g0118 a0002c0001t0001g0068 a0002c0001t0001g0118	2	370	0.0054	40	c.737 others(55): Show c.737-840_737-839insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAAGGA others(33): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01070.hp2 HG01167.hp1 others(22): Show HG00597.hp1 HG01070.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02293.hp2 HG02615.hp1 HG02976.hp1 HG03195.hp1 HG03453.hp2 NA18941.hp1 NA18941.hp2 NA18953.hp2 NA18969.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19063.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0008	a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0002c0001t0001 a0002c0001t0011 a0002c0001t0017 a0002c0001t0018 a0002c0008t0001	a0001c0002t0001g0072 a0001c0002t0001g0213 a0001c0003t0001g0300 others(21): Show a0001c0002t0001g0072 a0001c0002t0001g0213 a0001c0003t0001g0300 a0001c0003t0001g0314 a0001c0003t0007g0299 a0002c0001t0001g0020 a0002c0001t0001g0057 a0002c0001t0001g0060 a0002c0001t0001g0069 a0002c0001t0001g0079 a0002c0001t0001g0092 a0002c0001t0001g0095 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0127 a0002c0001t0001g0178 a0002c0001t0001g0191 a0002c0001t0011g0083 a0002c0001t0011g0094 a0002c0001t0017g0064 a0002c0001t0018g0075 a0002c0008t0001g0317	25	370	0.0676	40	c.737 others(55): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAGGGA others(33): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0137 a0002c0001t0001g0137	1	370	0.0027	40	c.737 others(55): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221612	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0209 a0001c0003t0001g0209	1	370	0.0027	40	c.737 others(55): Show c.737-852_737-851insCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATGTATGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	284	0.0035	40	c.18+ others(55): Show c.18+4211_18+4212insATATATATATATATATGTATGTATATATAT ATATATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0329 a0001c0003t0002g0329	1	334	0.0030	40	c.-10 others(51): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA8L1_chr10_46370776_46396778	46370983	C C	ACTGAGCC others(33): Show ACTGAGCCCTCACCCTGGACTGGGAGGGCAGTGGGCCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0137 a0003c0012t0005g0137	1	390	0.0026	40	c.-48 others(50): Show c.-4869delCinsACTGAGCCCTCACCCTGGACTGGGAGGGCAGTGGGC CTGCT	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding		4793		chr10	TogoVar
AOAH_chr7_36507941_36729494	36517262	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 NA19030.hp2 HG03471.hp1 HG03471.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0118 a0002c0002t0001g0172 a0001c0001t0001g0073 a0001c0001t0001g0118 a0002c0002t0001g0172	3	306	0.0098	40	c.160 others(59): Show c.1600-3883_1600-3882insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AP2S1_chr19_46833167_46855846	46833424	G G	GGAGAAGA others(33): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG02735.hp2 others(2): Show HG00741.hp1 HG01175.hp2 HG02735.hp2 HG04228.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0225 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0279	5	424	0.0118	40	c.50 others(51): Show c.5022_*5023insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTC	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4742		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(33): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03098.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG03098.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0001t0001 a0001c0002t0001 a0001c0006t0002	a0001c0001t0001g0328 a0001c0002t0001g0339 a0001c0002t0001g0340 others(1): Show a0001c0001t0001g0328 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0006t0002g0314	4	406	0.0099	40	c.806 others(55): Show c.806+608_806+647dupTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128501	C C	CGGCCCGC others(33): Show CGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18985.hp2 NA19005.hp2 others(1): Show HG02083.hp2 NA18985.hp2 NA19005.hp2 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0003t0009 a0001c0005t0002 a0001c0003t0002 a0001c0003t0009 a0001c0005t0002	a0001c0003t0002g0034 a0001c0003t0009g0348 a0001c0003t0009g0349 others(1): Show a0001c0003t0002g0034 a0001c0003t0009g0348 a0001c0003t0009g0349 a0001c0005t0002g0022	4	406	0.0099	40	c.806 others(55): Show c.806+588_806+589insAGCTCCACGGGGTGCAGTGTCGGAGCGGCG GGGGCGGGCC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128514	A A	AGCTCCGA others(33): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG02135.hp2 others(1): Show HG00423.hp2 HG00621.hp2 HG02135.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0368 a0001c0001t0003g0375 others(1): Show a0001c0001t0003g0351 a0001c0001t0003g0368 a0001c0001t0003g0375 a0001c0001t0003g0377	4	406	0.0099	40	c.806 others(55): Show c.806+575_806+576insGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128514	A A	AGCTCCGA others(33): Show AGCTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0378 a0001c0001t0003g0378	1	406	0.0025	40	c.806 others(55): Show c.806+575_806+576insGGCGGGGGCGGGCCAGCTCCACGGGGTGCA GTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128672	A A	AGCTCCGA others(33): Show AGCTCCGACACTGCACCCCGTGGAGCCAGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	406	0.0025	40	c.806 others(55): Show c.806+417_806+418insGGCGGGGGCGGGCTGGCTCCACGGGGTGCA GTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128672	A A	AGCTCCGA others(33): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	406	0.0025	40	c.806 others(55): Show c.806+378_806+417dupGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128751	A A	AGCTCCGA others(33): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0359 a0001c0001t0003g0359	1	406	0.0025	40	c.806 others(55): Show c.806+299_806+338dupGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0087 a0001c0001t0046g0087	1	346	0.0029	40	c.36 others(51): Show c.3641_*3642insATATATATATATATATATATATATATATATATAT ATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
APBA1_chr9_69422532_69677371	69658282	T T	TTCTTTTT others(33): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0182 a0001c0001t0022g0182	1	210	0.0048	40	c.-70 others(59): Show c.-70+13870_-70+13871insGAGAAAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAAAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBB1_chr11_6390125_6424094	6402846	A A	AGGATGTG others(33): Show AGGATGTGGTTAGGGAGAGGGGGATGTGGTTAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	416	0.0024	40	c.110 others(57): Show c.1105-122_1105-121insCCCTCTCCCTAACCACATCCCCCTCTCC CTAACCACATCC	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	6/14			chr11	TogoVar
APBB2_chr4_40805027_41219542	40830211	C C	CACACACA others(33): Show CACACACACACACACACATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0051 a0001c0004t0051	a0001c0004t0051g0141 a0001c0004t0051g0141	1	192	0.0052	40	c.164 others(57): Show c.1644+251_1644+252insATATATATATATATATATATGTATGTGT GTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	13/17			chr4	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	434	0.0023	40	c.77- others(53): Show c.77-697_77-696insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APLP2_chr11_130064894_130149805	130092139	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGTGATGGCAGCTGGGAAGAGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	274	0.0037	40	c.106 others(59): Show c.106-17263_106-17262insAGCTGGGAAGAGGCGCTCCTCACTTC CTAGATGTGATGGC	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130092174	A A	AAGAGGCG others(33): Show AAGAGGCGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(60): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18973.hp1 NA18978.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp2 NA19084.hp1 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0007c0007 a0009c0011 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0005t0016 a0002c0002t0002 a0003c0003t0002 a0003c0003t0005 a0004c0004t0002 a0004c0004t0003 a0004c0004t0014 a0005c0008t0002 a0007c0007t0002 a0009c0011t0002 a0010c0010t0002	a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0003 others(58): Show a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0005g0235 a0001c0001t0015g0193 a0001c0005t0016g0212 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0227 a0003c0003t0002g0132 a0003c0003t0005g0222 a0003c0003t0005g0224 a0003c0003t0005g0237 a0003c0003t0005g0238 a0004c0004t0002g0194 a0004c0004t0003g0006 a0004c0004t0014g0229 a0005c0008t0002g0243 a0005c0008t0002g0244 a0007c0007t0002g0236 a0009c0011t0002g0247 a0010c0010t0002g0210	63	274	0.2299	40	c.106 others(59): Show c.106-17230_106-17229insTGATGGCGGCTGGGCAGAGGCGCTCC TCACTTCCTAGATG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	40	c.-50 others(51): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp1 NA19240.hp1 HG03041.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0068 a0002c0001t0001g0366 a0002c0001t0001g0367 a0001c0002t0001g0068 a0002c0001t0001g0366 a0002c0001t0001g0367	3	432	0.0069	40	c.16+ others(55): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGACAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0383 a0001c0002t0001g0383	1	432	0.0023	40	c.16+ others(55): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTGTCCTTCCTTCCT TCCTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar

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