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
APBB1IP_chr10_26433341_26572803	26561064	C C	CTTTCTT CTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01167.hp2 others(15): Show HG00280.hp2 HG00408.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG02015.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG03490.hp2 NA18939.hp2 NA18980.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0008 a0010c0010 a0001c0001 a0006c0008 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0010c0010t0002	a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0219 a0001c0001t0002g0250 a0001c0001t0002g0271 a0001c0001t0002g0323 a0006c0008t0001g0198 a0006c0008t0001g0248 a0010c0010t0002g0348	18	358	0.0503	6	c.136 others(23): Show c.1369+223_1369+224insCTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1_chr11_6390125_6424094	6390700	C C	CCTGGCG CCTGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01975.hp2 HG04115.hp1 others(2): Show HG01496.hp1 HG01975.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0285	5	416	0.0120	6	c.48 others(17): Show c.4833_*4834insCGCCAG	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		4424		chr11	TogoVar
APBB2_chr4_40805027_41219542	40829803	G G	GCAGGAC GCAGGAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18983.hp1 HG02622.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0049 a0001c0004t0051 a0001c0002t0049 a0001c0004t0051	a0001c0002t0049g0097 a0001c0004t0051g0141 a0001c0002t0049g0097 a0001c0004t0051g0141	2	192	0.0104	6	c.164 others(23): Show c.1644+659_1644+660insGTCCTG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	13/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40832008	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 NA19043.hp1 HG02109.hp1 HG02717.hp2 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0001t0014 a0002c0005t0001 a0002c0001t0001 a0002c0001t0014 a0002c0005t0001	a0002c0001t0001g0078 a0002c0001t0014g0063 a0002c0005t0001g0155 a0002c0001t0001g0078 a0002c0001t0014g0063 a0002c0005t0001g0155	3	192	0.0156	6	c.153 others(25): Show c.1530-1437_1530-1432dupTATATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40832013	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp2 NA18960.hp1 HG00597.hp2 NA18955.hp2 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0003t0012 a0001c0002t0002 a0001c0003t0002 a0001c0003t0012	a0001c0002t0002g0071 a0001c0003t0002g0096 a0001c0003t0012g0010 a0001c0002t0002g0071 a0001c0003t0002g0096 a0001c0003t0012g0010	3	192	0.0156	6	c.153 others(25): Show c.1530-1442_1530-1437dupGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40832013	T T	TATACAC TATACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01975.hp1 HG02015.hp2 others(12): Show HG01261.hp2 HG01975.hp1 HG02015.hp2 HG02165.hp1 HG02165.hp2 HG02698.hp1 HG02738.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18951.hp1 NA19009.hp2 NA19065.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0017 a0001c0002t0019 others(7): Show a0001c0002t0002 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0043 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0004t0012 a0001c0004t0021	a0001c0002t0002g0061 a0001c0002t0002g0084 a0001c0002t0002g0085 others(12): Show a0001c0002t0002g0061 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0098 a0001c0002t0017g0094 a0001c0002t0017g0095 a0001c0002t0019g0178 a0001c0002t0021g0083 a0001c0002t0043g0169 a0001c0003t0002g0072 a0001c0003t0003g0136 a0001c0003t0009g0162 a0001c0004t0012g0001 a0001c0004t0021g0092	15	192	0.0781	6	c.153 others(25): Show c.1530-1437_1530-1436insGTGTAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40832013	T T	TATATAC TATATAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02451.hp2 HG02630.hp2 others(5): Show HG01516.hp2 HG02451.hp2 HG02630.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0005 a0001c0003t0006 a0002c0001t0003 others(3): Show a0001c0003t0005 a0001c0003t0006 a0002c0001t0003 a0002c0001t0005 a0002c0001t0054 a0002c0005t0005	a0001c0003t0005g0130 a0001c0003t0006g0134 a0002c0001t0003g0048 others(5): Show a0001c0003t0005g0130 a0001c0003t0006g0134 a0002c0001t0003g0048 a0002c0001t0005g0153 a0002c0001t0005g0167 a0002c0001t0005g0189 a0002c0001t0054g0066 a0002c0005t0005g0076	8	192	0.0417	6	c.153 others(25): Show c.1530-1437_1530-1436insGTATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40854790	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG02976.hp2 others(4): Show HG01243.hp1 HG02630.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005	a0001c0002t0048 a0001c0003t0005 a0001c0003t0006 others(2): Show a0001c0002t0048 a0001c0003t0005 a0001c0003t0006 a0002c0001t0005 a0002c0005t0005	a0001c0002t0048g0067 a0001c0003t0005g0130 a0001c0003t0006g0134 others(4): Show a0001c0002t0048g0067 a0001c0003t0005g0130 a0001c0003t0006g0134 a0002c0001t0005g0153 a0002c0001t0005g0167 a0002c0001t0005g0189 a0002c0005t0005g0076	7	192	0.0365	6	c.153 others(27): Show c.1530-24219_1530-24214dupTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40881528	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG00733.hp2 others(23): Show HG00544.hp2 HG00733.hp1 HG00733.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02015.hp2 HG02165.hp1 HG02486.hp2 HG02630.hp2 HG02698.hp1 HG03490.hp2 HG03710.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18983.hp1 NA18990.hp1 NA19065.hp2 NA19066.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0005 a0004c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0019 a0001c0002t0049 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0004t0009 a0001c0004t0013 a0001c0004t0020 a0001c0004t0021 a0001c0004t0039 a0002c0001t0001 a0002c0005t0005 a0004c0007t0007	a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0099 others(23): Show a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0099 a0001c0002t0002g0061 a0001c0002t0002g0071 a0001c0002t0002g0086 a0001c0002t0002g0118 a0001c0002t0003g0183 a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0002t0019g0178 a0001c0002t0049g0097 a0001c0003t0001g0038 a0001c0003t0002g0072 a0001c0004t0002g0112 a0001c0004t0009g0114 a0001c0004t0013g0022 a0001c0004t0020g0161 a0001c0004t0021g0092 a0001c0004t0039g0180 a0002c0001t0001g0107 a0002c0001t0001g0135 a0002c0001t0001g0166 a0002c0005t0005g0076 a0004c0007t0007g0056	26	192	0.1354	6	c.152 others(25): Show c.1529+8835_1529+8836insAAAAAA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40898880	C C	CACACAG CACACAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02897.hp1 NA19065.hp2 HG02723.hp2 HG02897.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0001 a0001c0003t0058 a0002c0005t0001 a0001c0002t0001 a0001c0003t0058 a0002c0005t0001	a0001c0002t0001g0099 a0001c0003t0058g0089 a0002c0005t0001g0149 a0001c0002t0001g0099 a0001c0003t0058g0089 a0002c0005t0001g0149	3	192	0.0156	6	c.125 others(25): Show c.1255-5470_1255-5469insCTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40930448	T T	TGTGTGC TGTGTGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18944.hp2 NA19056.hp1 HG02809.hp2 NA18944.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0010 a0001c0003t0032 a0002c0005t0001 a0001c0003t0010 a0001c0003t0032 a0002c0005t0001	a0001c0003t0010g0007 a0001c0003t0032g0008 a0002c0005t0001g0100 a0001c0003t0010g0007 a0001c0003t0032g0008 a0002c0005t0001g0100	3	192	0.0156	6	c.125 others(25): Show c.1254+4007_1254+4008insGCACAC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40975753	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02015.hp1 HG02015.hp2 others(10): Show HG01175.hp2 HG02015.hp1 HG02015.hp2 HG02258.hp1 HG02647.hp2 HG02897.hp2 HG02965.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 a0001c0003 a0001c0004 a0002c0001	a0001c0003t0009 a0001c0004t0004 a0001c0004t0019 others(8): Show a0001c0003t0009 a0001c0004t0004 a0001c0004t0019 a0001c0004t0021 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0016 a0002c0001t0025 a0002c0001t0050 a0002c0001t0060	a0001c0003t0009g0162 a0001c0004t0004g0140 a0001c0004t0019g0073 others(10): Show a0001c0003t0009g0162 a0001c0004t0004g0140 a0001c0004t0019g0073 a0001c0004t0021g0092 a0002c0001t0001g0062 a0002c0001t0001g0078 a0002c0001t0001g0125 a0002c0001t0003g0123 a0002c0001t0005g0152 a0002c0001t0016g0088 a0002c0001t0025g0020 a0002c0001t0050g0188 a0002c0001t0060g0158	13	192	0.0677	6	c.836 others(25): Show c.836-30686_836-30681dupGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41000069	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(18): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp1 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG03098.hp1 HG03704.hp1 NA18993.hp1 NA19065.hp1 NA19087.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0001 a0004c0007 a0001c0004 a0002c0001 a0004c0007	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(13): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0012 a0001c0004t0013 a0001c0004t0019 a0001c0004t0020 a0001c0004t0021 a0001c0004t0052 a0002c0001t0004 a0002c0001t0007 a0002c0001t0010 a0002c0001t0013 a0004c0007t0007	a0001c0004t0001g0121 a0001c0004t0001g0181 a0001c0004t0002g0112 others(18): Show a0001c0004t0001g0121 a0001c0004t0001g0181 a0001c0004t0002g0112 a0001c0004t0002g0192 a0001c0004t0003g0043 a0001c0004t0003g0103 a0001c0004t0003g0111 a0001c0004t0004g0129 a0001c0004t0004g0140 a0001c0004t0005g0163 a0001c0004t0012g0001 a0001c0004t0013g0022 a0001c0004t0019g0073 a0001c0004t0020g0036 a0001c0004t0021g0092 a0001c0004t0052g0093 a0002c0001t0004g0132 a0002c0001t0007g0087 a0002c0001t0010g0025 a0002c0001t0013g0023 a0004c0007t0007g0056	21	192	0.1094	6	c.835 others(25): Show c.835+13508_835+13513dupCACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41000105	G G	GTGTGTA GTGTGTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG02723.hp1 others(5): Show HG01358.hp1 HG01361.hp1 HG02723.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 NA18970.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0003t0055 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0055 a0002c0001t0001 a0002c0001t0008 a0002c0001t0027 a0002c0001t0040	a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0119 others(5): Show a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0119 a0001c0003t0055g0080 a0002c0001t0001g0117 a0002c0001t0008g0156 a0002c0001t0027g0018 a0002c0001t0040g0145	8	192	0.0417	6	c.835 others(25): Show c.835+13477_835+13478insTACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41027364	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01175.hp1 HG02630.hp2 others(1): Show HG01071.hp2 HG01175.hp1 HG02630.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0001 a0002c0001t0004 a0002c0005t0005 others(1): Show a0001c0003t0001 a0002c0001t0004 a0002c0005t0005 a0002c0005t0008	a0001c0003t0001g0029 a0002c0001t0004g0132 a0002c0005t0005g0076 others(1): Show a0001c0003t0001g0029 a0002c0001t0004g0132 a0002c0005t0005g0076 a0002c0005t0008g0127	4	192	0.0208	6	c.19+ others(21): Show c.19+5866_19+5871dupATATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41033584	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG00558.hp2 HG00642.hp1 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02965.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 NA19043.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0001 others(1): Show a0001c0003 a0001c0004 a0002c0001 a0003c0006	a0001c0003t0001 a0001c0003t0013 a0001c0003t0026 others(11): Show a0001c0003t0001 a0001c0003t0013 a0001c0003t0026 a0001c0004t0003 a0001c0004t0004 a0001c0004t0051 a0001c0004t0052 a0002c0001t0001 a0002c0001t0008 a0002c0001t0009 a0002c0001t0014 a0002c0001t0027 a0002c0001t0033 a0003c0006t0015	a0001c0003t0001g0038 a0001c0003t0001g0185 a0001c0003t0013g0024 others(19): Show a0001c0003t0001g0038 a0001c0003t0001g0185 a0001c0003t0013g0024 a0001c0003t0026g0019 a0001c0004t0003g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0051g0141 a0001c0004t0052g0093 a0002c0001t0001g0117 a0002c0001t0001g0148 a0002c0001t0008g0079 a0002c0001t0008g0156 a0002c0001t0009g0064 a0002c0001t0014g0128 a0002c0001t0027g0018 a0002c0001t0033g0014 a0003c0006t0015g0081 a0003c0006t0015g0082 a0003c0006t0015g0131	22	192	0.1146	6	c.-50 others(21): Show c.-50-286_-50-281dupTGTGTG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	4/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41033621	C C	CACACAA CACACAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG02897.hp1 HG02451.hp1 HG02818.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0035 a0001c0003t0058 a0001c0003t0001 a0001c0003t0035 a0001c0003t0058	a0001c0003t0001g0106 a0001c0003t0035g0026 a0001c0003t0058g0089 a0001c0003t0001g0106 a0001c0003t0035g0026 a0001c0003t0058g0089	3	192	0.0156	6	c.-50 others(21): Show c.-50-318_-50-317insTTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	4/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41141334	G G	GTGTGTC GTGTGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02818.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG02818.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0048 a0001c0003t0001 a0001c0003t0035 others(1): Show a0001c0002t0048 a0001c0003t0001 a0001c0003t0035 a0001c0003t0058	a0001c0002t0048g0067 a0001c0003t0001g0106 a0001c0003t0035g0026 others(1): Show a0001c0002t0048g0067 a0001c0003t0001g0106 a0001c0003t0035g0026 a0001c0003t0058g0089	4	192	0.0208	6	c.-26 others(25): Show c.-261+1652_-261+1653insGACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	2/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGG AAGGAGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 homoSapiens_chm13v2.hp1 NA18999.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0045 a0001c0003t0001 a0002c0001t0045	a0001c0003t0001g0050 a0002c0001t0045g0040 a0001c0003t0001g0050 a0002c0001t0045g0040	2	192	0.0104	6	c.-41 others(27): Show c.-416-16771_-416-16766dupCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159955	G G	GAGAAGA GAGAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01109.hp2 others(3): Show HG00558.hp1 HG00642.hp1 HG01109.hp2 HG01258.hp1 HG02897.hp1 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0005 others(1): Show a0001c0002 a0001c0003 a0002c0005 a0003c0006	a0001c0002t0002 a0001c0002t0038 a0001c0003t0058 others(2): Show a0001c0002t0002 a0001c0002t0038 a0001c0003t0058 a0002c0005t0006 a0003c0006t0015	a0001c0002t0002g0175 a0001c0002t0038g0051 a0001c0003t0058g0089 others(3): Show a0001c0002t0002g0175 a0001c0002t0038g0051 a0001c0003t0058g0089 a0002c0005t0006g0187 a0003c0006t0015g0081 a0003c0006t0015g0082	6	192	0.0313	6	c.-41 others(27): Show c.-416-16814_-416-16813insTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41194149	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02015.hp1 HG02257.hp1 others(11): Show HG00733.hp2 HG02015.hp1 HG02257.hp1 HG02897.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 NA18951.hp2 NA18955.hp1 NA18983.hp2 NA18999.hp1 NA19043.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0003t0001 a0002c0001t0001 others(4): Show a0001c0002t0003 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0025 a0002c0001t0045 a0002c0001t0050	a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0003t0001g0038 others(11): Show a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0003t0001g0038 a0001c0003t0001g0164 a0002c0001t0001g0032 a0002c0001t0001g0037 a0002c0001t0001g0062 a0002c0001t0001g0117 a0002c0001t0001g0148 a0002c0001t0001g0166 a0002c0001t0002g0035 a0002c0001t0025g0020 a0002c0001t0045g0040 a0002c0001t0050g0188	14	192	0.0729	6	c.-41 others(27): Show c.-417+20250_-417+20255dupTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APC2_chr19_1445121_1478244	1462655	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG01978.hp2 others(5): Show HG01192.hp1 HG01891.hp1 HG01978.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0032 a0002c0002 a0001c0001 a0001c0032 a0002c0002	a0001c0001t0007 a0001c0001t0026 a0001c0032t0001 others(2): Show a0001c0001t0007 a0001c0001t0026 a0001c0032t0001 a0002c0002t0002 a0002c0002t0049	a0001c0001t0007g0010 a0001c0001t0007g0029 a0001c0001t0007g0030 others(4): Show a0001c0001t0007g0010 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0026g0254 a0001c0032t0001g0158 a0002c0002t0002g0273 a0002c0002t0049g0182	8	350	0.0229	6	c.185 others(23): Show c.1853+499_1853+504dupAAAAAA	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
APCDD1L_chr20_58454101_58520399	58485143	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp2 HG02132.hp2 others(23): Show HG00738.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp2 NA18949.hp1 NA19004.hp2 NA19006.hp1 NA19043.hp2 NA19058.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0007 a0011c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0032 a0001c0001t0036 a0001c0001t0041 a0001c0001t0045 a0002c0002t0003 a0002c0002t0005 a0002c0002t0020 a0003c0003t0003 a0004c0004t0001 a0004c0004t0003 a0004c0004t0049 a0006c0007t0001 a0006c0007t0003 a0011c0015t0003	a0001c0001t0001g0141 a0001c0001t0001g0254 a0001c0001t0001g0257 others(23): Show a0001c0001t0001g0141 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0003g0120 a0001c0001t0004g0224 a0001c0001t0004g0350 a0001c0001t0007g0122 a0001c0001t0008g0155 a0001c0001t0012g0051 a0001c0001t0032g0033 a0001c0001t0036g0118 a0001c0001t0041g0251 a0001c0001t0045g0172 a0002c0002t0003g0126 a0002c0002t0005g0250 a0002c0002t0020g0014 a0003c0003t0003g0074 a0004c0004t0001g0252 a0004c0004t0003g0076 a0004c0004t0049g0160 a0006c0007t0001g0152 a0006c0007t0001g0162 a0006c0007t0003g0041 a0006c0007t0003g0103 a0006c0007t0003g0113 a0011c0015t0003g0067	26	376	0.0692	6	c.50- others(23): Show c.50-14402_50-14397dupGTGTGT	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	1/3			chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58486854	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(69): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01168.hp1 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA19002.hp1 NA19004.hp2 NA19058.hp1 NA19060.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012	a0001c0001 a0001c0009 a0001c0011 others(9): Show a0001c0001 a0001c0009 a0001c0011 a0001c0019 a0002c0002 a0002c0012 a0003c0003 a0003c0005 a0004c0004 a0005c0006 a0006c0007 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0044 a0001c0001t0047 a0001c0001t0052 a0001c0009t0004 a0001c0009t0007 a0001c0011t0015 a0001c0019t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0035 a0002c0002t0039 a0002c0012t0048 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0010 a0003c0003t0013 a0003c0005t0001 a0003c0005t0010 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0004c0004t0049 a0005c0006t0001 a0005c0006t0003 a0006c0007t0003 a0012c0018t0006	a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0204 others(66): Show a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0348 a0001c0001t0003g0048 a0001c0001t0003g0058 a0001c0001t0003g0069 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0004g0175 a0001c0001t0004g0200 a0001c0001t0004g0337 a0001c0001t0005g0154 a0001c0001t0006g0112 a0001c0001t0008g0143 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0009g0110 a0001c0001t0010g0022 a0001c0001t0011g0090 a0001c0001t0011g0129 a0001c0001t0020g0015 a0001c0001t0044g0153 a0001c0001t0047g0140 a0001c0001t0052g0364 a0001c0009t0004g0225 a0001c0009t0007g0065 a0001c0009t0007g0066 a0001c0011t0015g0034 a0001c0019t0005g0216 a0002c0002t0001g0255 a0002c0002t0002g0135 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0193 a0002c0002t0004g0005 a0002c0002t0004g0176 a0002c0002t0009g0037 a0002c0002t0009g0104 a0002c0002t0035g0040 a0002c0002t0039g0133 a0002c0012t0048g0157 a0003c0003t0001g0181 a0003c0003t0001g0206 a0003c0003t0001g0234 a0003c0003t0001g0326 a0003c0003t0001g0334 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0072 a0003c0003t0003g0117 a0003c0003t0004g0357 a0003c0003t0010g0023 a0003c0003t0013g0368 a0003c0005t0001g0235 a0003c0005t0010g0025 a0004c0004t0001g0252 a0004c0004t0002g0178 a0004c0004t0006g0060 a0004c0004t0049g0160 a0005c0006t0001g0263 a0005c0006t0001g0276 a0005c0006t0001g0358 a0005c0006t0003g0080 a0006c0007t0003g0103 a0012c0018t0006g0043	72	376	0.1915	6	c.50- others(23): Show c.50-16113_50-16108dupAAAAAA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	1/3			chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58508993	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02647.hp1 HG02809.hp2 HG02027.hp1 HG02647.hp1 HG02809.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0007 a0002c0002 a0004c0004 a0006c0007	a0002c0002t0002 a0004c0004t0001 a0006c0007t0003 a0002c0002t0002 a0004c0004t0001 a0006c0007t0003	a0002c0002t0002g0135 a0004c0004t0001g0139 a0006c0007t0003g0041 a0002c0002t0002g0135 a0004c0004t0001g0139 a0006c0007t0003g0041	3	376	0.0080	6	c.49+ others(21): Show c.49+5660_49+5665dupACACAC	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	1/3			chr20	TogoVar
APCDD1_chr18_10449635_10494949	10459316	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01099.hp1 others(8): Show HG00741.hp1 HG01069.hp2 HG01099.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA19043.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0005 a0003c0006	a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 others(5): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0004t0017 a0001c0015t0001 a0002c0005t0002 a0003c0006t0012	a0001c0001t0004g0360 a0001c0001t0012g0223 a0001c0001t0021g0222 others(7): Show a0001c0001t0004g0360 a0001c0001t0012g0223 a0001c0001t0021g0222 a0001c0002t0001g0025 a0001c0002t0001g0298 a0001c0004t0017g0224 a0001c0015t0001g0300 a0002c0005t0002g0299 a0003c0006t0012g0264 a0003c0006t0012g0286	11	422	0.0261	6	c.58+ others(21): Show c.58+4296_58+4301dupCACACA	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10464311	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00673.hp2 others(12): Show HG00140.hp2 HG00544.hp2 HG00673.hp2 HG01099.hp1 HG01993.hp2 HG02027.hp2 HG03195.hp1 HG03516.hp2 HG03710.hp1 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18956.hp1 NA18970.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 others(8): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0034 a0001c0004t0017 a0001c0004t0031 a0002c0003t0003	a0001c0001t0002g0153 a0001c0001t0002g0171 a0001c0001t0002g0284 others(12): Show a0001c0001t0002g0153 a0001c0001t0002g0171 a0001c0001t0002g0284 a0001c0001t0012g0223 a0001c0001t0021g0222 a0001c0001t0025g0136 a0001c0002t0001g0258 a0001c0002t0001g0350 a0001c0002t0003g0113 a0001c0002t0005g0318 a0001c0002t0034g0257 a0001c0004t0017g0224 a0001c0004t0031g0220 a0002c0003t0003g0307 a0002c0003t0003g0308	15	422	0.0356	6	c.59- others(21): Show c.59-4130_59-4125dupCACACA	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APC_chr5_112732885_112851239	112735500	C C	CATATAT CATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00642.hp1 others(30): Show HG00408.hp1 HG00609.hp1 HG00642.hp1 HG02129.hp1 HG02155.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp1 HG02965.hp1 HG03471.hp2 HG03486.hp1 HG03704.hp2 HG04115.hp1 HG06807.hp1 NA18747.hp2 NA18950.hp2 NA18957.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19089.hp2 NA20129.hp2 NA21309.hp2	a0001 a0008 a0013 others(1): Show a0001 a0008 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0029 a0008c0022 a0013c0024 a0014c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0029t0002 a0008c0022t0003 a0013c0024t0003 a0014c0021t0003	a0001c0001t0001g0211 a0001c0001t0001g0286 a0001c0002t0001g0288 others(29): Show a0001c0001t0001g0211 a0001c0001t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0003g0001 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0162 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0170 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0003t0002g0151 a0001c0029t0002g0033 a0008c0022t0003g0175 a0013c0024t0003g0183 a0014c0021t0003g0166	33	294	0.1122	6	c.-24 others(17): Show c.-2444_-2443insATATAT	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding		2384		chr5	TogoVar
APC_chr5_112732885_112851239	112745548	T T	TTTATTA TTTATTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01258.hp2 others(7): Show HG01175.hp2 HG01257.hp1 HG01258.hp2 HG02622.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03225.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0001c0014 a0002c0004 a0005c0013	a0001c0001t0001 a0001c0003t0002 a0001c0010t0007 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0010t0007 a0001c0014t0007 a0002c0004t0002 a0005c0013t0002	a0001c0001t0001g0198 a0001c0003t0002g0150 a0001c0010t0007g0027 others(7): Show a0001c0001t0001g0198 a0001c0003t0002g0150 a0001c0010t0007g0027 a0001c0010t0007g0132 a0001c0014t0007g0133 a0002c0004t0002g0037 a0002c0004t0002g0038 a0002c0004t0002g0039 a0005c0013t0002g0148 a0005c0013t0002g0149	10	294	0.0340	6	c.-19 others(23): Show c.-19+7647_-19+7652dupATTATT	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
APC_chr5_112732885_112851239	112786873	C C	CCTTTTT CCTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG02155.hp2 others(11): Show HG02056.hp1 HG02132.hp1 HG02155.hp2 NA18747.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18968.hp2 NA18980.hp1 NA19009.hp2 NA19066.hp1 NA19074.hp1 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0002 a0001c0003t0014 a0001c0019t0002 a0001c0003t0002 a0001c0003t0014 a0001c0019t0002	a0001c0003t0002g0004 a0001c0003t0002g0046 a0001c0003t0002g0047 others(11): Show a0001c0003t0002g0004 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0066 a0001c0003t0002g0079 a0001c0003t0002g0192 a0001c0003t0014g0052 a0001c0019t0002g0078	14	294	0.0476	6	c.646 others(23): Show c.646-5560_646-5555dupCTTTTT	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TTCCCCC TTCCCCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01981.hp1 HG01993.hp2 others(8): Show HG01346.hp2 HG01981.hp1 HG01993.hp2 HG02109.hp2 NA18974.hp1 NA18983.hp2 NA18994.hp2 NA19085.hp2 NA19087.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0233 others(8): Show a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0003c0006t0001g0261	11	294	0.0374	6	c.195 others(25): Show c.1958+1000_1958+1001insTCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15			chr5	TogoVar
APEH_chr3_49669351_49688971	49673039	A A	AAAGTGC AAAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18984.hp2 NA18999.hp1 others(4): Show HG02027.hp2 NA18984.hp2 NA18999.hp1 NA19005.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	318	0.0220	6	c.-13 others(17): Show c.-1363_-1362insAAGTGC	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1311		chr3	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTT CTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG02896.hp1 others(3): Show HG01243.hp2 HG02717.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0045 a0003c0005t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0045 a0003c0005t0001g0020	6	318	0.0189	6	c.-13 others(17): Show c.-1315_-1314insTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APEH_chr3_49669351_49688971	49673801	C C	CCTCACG CCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(66): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18963.hp2 NA18973.hp2 NA18991.hp1 NA19012.hp2 NA19065.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0003c0005t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0002g0001 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0004t0001g0001 a0001c0004t0001g0015 a0003c0005t0001g0020 a0006c0007t0001g0002	69	318	0.2170	6	c.-60 others(15): Show c.-601_-600insCTCACG	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		549		chr3	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAAAGAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(27): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00741.hp1 HG01081.hp2 HG01516.hp2 HG01993.hp2 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02615.hp1 HG02809.hp2 HG02976.hp1 HG03239.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 NA18940.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA19011.hp1 NA19012.hp1 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0045 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0002g0082 a0001c0001t0002g0297	30	434	0.0691	6	c.1+ others(21): Show c.1+5113_*1+5114insAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164899631	G G	GGAGAGA GGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18979.hp1 NA19082.hp1 others(2): Show NA18975.hp2 NA18979.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0002t0001g0018 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0002t0001g0018 a0001c0002t0001g0134 a0001c0002t0001g0171	5	434	0.0115	6	c.42 others(17): Show c.4217_*4218insGAGAGA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		2105		chr4	TogoVar
APH1A_chr1_150260404_150274016	150260751	G G	GATTTTT GATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG01069.hp1 others(9): Show HG00621.hp1 HG00642.hp2 HG01069.hp1 HG01256.hp2 HG01516.hp2 HG02071.hp1 HG02080.hp2 HG02602.hp1 HG03831.hp1 NA18968.hp2 NA19059.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0001 a0001c0001t0001g0021	12	440	0.0273	6	c.53 others(17): Show c.5378_*5379insAAAAAT	APH1A	ENSG00000117362.13	transcript	ENST00000369109.8	protein_coding		4652		chr1	TogoVar
APH1B_chr15_63272605_63314126	63303874	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp2 others(41): Show HG00099.hp1 HG00140.hp1 HG00438.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp1 NA18955.hp2 NA19005.hp1 NA19009.hp1 NA19077.hp2 NA20129.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0034 a0003c0003t0003 a0004c0004t0001 a0007c0009t0003	a0001c0001t0001g0025 a0001c0001t0001g0087 a0001c0001t0001g0225 others(22): Show a0001c0001t0001g0025 a0001c0001t0001g0087 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0002g0036 a0001c0001t0003g0008 a0001c0001t0003g0045 a0001c0001t0003g0052 a0001c0001t0003g0162 a0001c0001t0003g0173 a0001c0001t0003g0185 a0001c0001t0005g0012 a0001c0001t0005g0026 a0001c0001t0005g0055 a0001c0001t0005g0234 a0001c0001t0005g0238 a0001c0001t0005g0240 a0001c0001t0006g0035 a0001c0001t0006g0117 a0001c0001t0018g0042 a0001c0001t0034g0008 a0003c0003t0003g0213 a0004c0004t0001g0197 a0007c0009t0003g0177	44	422	0.1043	6	c.606 others(23): Show c.606+1431_606+1436dupACACAC	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
APLF_chr2_68462585_68585162	68468989	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02109.hp1 HG02293.hp2 others(4): Show HG01943.hp2 HG02109.hp1 HG02293.hp2 HG03098.hp1 HG03486.hp2 NA18962.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0001 a0002c0002t0006 a0006c0007t0006 a0001c0001t0001 a0002c0002t0006 a0006c0007t0006	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0002c0002t0006g0163 a0002c0002t0006g0164 a0006c0007t0006g0002	7	176	0.0398	6	c.96+ others(21): Show c.96+1189_96+1194dupGTGTGT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68475881	T T	TTATATA TTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(16): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp2 HG02630.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0002t0009 a0002c0011t0002 a0002c0002t0002 a0002c0002t0009 a0002c0011t0002	a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 others(15): Show a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0009g0003 a0002c0011t0002g0040	19	176	0.1080	6	c.96+ others(21): Show c.96+8066_96+8071dupATATAT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLN_chrX_129640259_129659956	129651142	G G	GCTCTGA GCTCTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(182): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0002c0003t0025	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0022 others(41): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0004g0032 a0001c0001t0005g0006 a0001c0001t0005g0010 a0001c0001t0005g0049 a0001c0001t0005g0054 a0001c0001t0007g0011 a0001c0001t0007g0013 a0001c0001t0007g0029 a0001c0001t0008g0021 a0001c0001t0008g0035 a0001c0001t0008g0059 a0001c0001t0008g0065 a0001c0001t0010g0017 a0001c0001t0012g0031 a0001c0001t0013g0033 a0001c0001t0014g0034 a0001c0001t0019g0052 a0001c0001t0020g0060 a0001c0001t0021g0063 a0001c0001t0022g0061 a0001c0001t0023g0047 a0001c0001t0024g0064 a0001c0001t0026g0067 a0001c0001t0027g0055 a0001c0001t0028g0069 a0002c0003t0025g0057	185	317	0.5836	6	c.68- others(21): Show c.68-2351_68-2350insTCAGAG	APLN	ENSG00000171388.12	transcript	ENST00000429967.3	protein_coding	1/2			chrX	TogoVar
APLN_chrX_129640259_129659956	129655388	T T	TCTGACC TCTGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02723.hp2 others(4): Show HG01243.hp1 HG02486.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0002g0058 a0001c0001t0003g0005 a0001c0001t0010g0017 a0001c0001t0002g0058 a0001c0001t0003g0005 a0001c0001t0010g0017	7	317	0.0221	6	c.-75 others(15): Show c.-759_-758insGGTCAG	APLN	ENSG00000171388.12	transcript	ENST00000429967.3	protein_coding		433		chrX	TogoVar
APLN_chrX_129640259_129659956	129656660	C C	CTTTTTT CTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03453.hp2 NA19043.hp1 HG03195.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	3	317	0.0095	6	c.-20 others(17): Show c.-2031_-2030insAAAAAA	APLN	ENSG00000171388.12	transcript	ENST00000429967.3	protein_coding		1705		chrX	TogoVar
APLP1_chr19_35863574_35884792	35864176	T T	TTTGTTG TTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp1 others(85): Show HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20300.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0003t0002 a0007c0009t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0005g0032 a0001c0001t0006g0001 a0001c0002t0002g0011 a0001c0002t0002g0048 a0001c0003t0002g0031 a0001c0003t0002g0039 a0001c0003t0002g0040 a0007c0009t0001g0021 a0008c0008t0001g0024	88	256	0.3438	6	c.-44 others(17): Show c.-4461_-4460insTTGTTG	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding		4397		chr19	TogoVar
APLP1_chr19_35863574_35884792	35867620	T T	TCACACA TCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02083.hp2 others(12): Show HG00408.hp1 HG00438.hp2 HG02083.hp2 HG02165.hp1 NA18747.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18967.hp1 NA18979.hp1 NA18995.hp1 NA19075.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0012 a0001c0004 a0004c0012	a0001c0004t0002 a0004c0012t0002 a0001c0004t0002 a0004c0012t0002	a0001c0004t0002g0005 a0001c0004t0002g0018 a0001c0004t0002g0033 others(4): Show a0001c0004t0002g0005 a0001c0004t0002g0018 a0001c0004t0002g0033 a0001c0004t0002g0034 a0001c0004t0002g0041 a0001c0004t0002g0042 a0004c0012t0002g0005	15	256	0.0586	6	c.-10 others(17): Show c.-1017_-1016insCACACA	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding		953		chr19	TogoVar
APLP1_chr19_35863574_35884792	35884027	G G	GTTTTTT GTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02897.hp2 others(3): Show HG02145.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp2 NA19030.hp2 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0002 a0001c0004t0002 a0001c0005t0004 a0001c0003t0002 a0001c0004t0002 a0001c0005t0004	a0001c0003t0002g0035 a0001c0004t0002g0041 a0001c0005t0004g0016 others(1): Show a0001c0003t0002g0035 a0001c0004t0002g0041 a0001c0005t0004g0016 a0001c0005t0004g0072	6	256	0.0234	6	c.45 others(17): Show c.4586_*4587insTTTTTT	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding		4236		chr19	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp1 HG02040.hp2 others(11): Show HG00621.hp1 HG01243.hp1 HG02040.hp2 HG02280.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18973.hp1 NA19009.hp1 NA19084.hp1 NA19091.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0009 a0010	a0001c0001 a0001c0005 a0003c0003 others(4): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004 a0005c0008 a0009c0011 a0010c0010	a0001c0001t0002 a0001c0005t0016 a0003c0003t0002 others(5): Show a0001c0001t0002 a0001c0005t0016 a0003c0003t0002 a0003c0003t0004 a0004c0004t0014 a0005c0008t0002 a0009c0011t0002 a0010c0010t0002	a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0208 others(11): Show a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0228 a0001c0001t0002g0246 a0001c0005t0016g0212 a0003c0003t0002g0132 a0003c0003t0004g0185 a0004c0004t0014g0229 a0005c0008t0002g0243 a0009c0011t0002g0247 a0010c0010t0002g0210	14	274	0.0511	6	c.105 others(25): Show c.105+12966_105+12971dupTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130092706	A A	AGGGAGG AGGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01891.hp1 others(13): Show HG01243.hp1 HG01257.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0004 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0004 a0003c0003t0011	a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0137 others(13): Show a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0248 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0252 a0002c0002t0001g0253 a0003c0003t0004g0185 a0003c0003t0011g0249	16	274	0.0584	6	c.106 others(25): Show c.106-16709_106-16704dupGGAGGG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130092723	G G	GGGGGAA GGGGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(61): 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 NA19068.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(59): 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 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0005g0235 a0001c0001t0015g0193 a0001c0005t0016g0212 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0227 a0003c0003t0002g0132 a0003c0003t0005g0222 a0003c0003t0005g0224 a0003c0003t0005g0237 a0003c0003t0005g0238 a0004c0004t0002g0194 a0004c0004t0003g0006 a0004c0004t0014g0229 a0005c0008t0002g0243 a0005c0008t0002g0244 a0007c0007t0002g0236 a0009c0011t0002g0247 a0010c0010t0002g0210	64	274	0.2336	6	c.106 others(25): Show c.106-16704_106-16703insGGAAGG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APMAP_chr20_24957925_24997751	24968616	C C	CCAGAAA CCAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0007 a0008 a0012 a0013	a0001c0001 a0002c0004 a0005c0007 others(5): Show a0001c0001 a0002c0004 a0005c0007 a0006c0011 a0007c0010 a0008c0012 a0012c0015 a0013c0014	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0002c0004t0001 a0005c0007t0001 a0006c0011t0001 a0007c0010t0001 a0008c0012t0001 a0012c0015t0001 a0013c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0008g0137 a0001c0001t0009g0142 a0001c0001t0011g0084 a0001c0001t0012g0143 a0002c0004t0001g0040 a0002c0004t0001g0128 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0150 a0005c0007t0001g0033 a0005c0007t0001g0090 a0006c0011t0001g0144 a0006c0011t0001g0145 a0007c0010t0001g0045 a0008c0012t0001g0032 a0012c0015t0001g0098 a0013c0014t0001g0136	141	290	0.4862	6	c.104 others(23): Show c.1041+270_1041+275dupTTTCTG	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	8/8			chr20	TogoVar

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