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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLRG1_chr4_154530005_154555400	154530741	T T	TAAAAAAA others(2): Show TAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01167.hp1 others(18): Show HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01517.hp1 HG02083.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04204.hp2 NA18965.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18991.hp2 NA19003.hp2 NA19057.hp2 NA19074.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0002 a0001c0002t0003g0010 a0001c0002t0003g0044 others(1): Show a0001c0002t0003g0002 a0001c0002t0003g0010 a0001c0002t0003g0044 a0001c0002t0005g0007	21	430	0.0488	9	c.59 others(20): Show c.5943_*5944insTTTTTTTTT		PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding					4263		chr4	TogoVar
PLS1_chr3_142591393_142718664	142696720	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02055.hp1 HG02572.hp1 others(8): Show HG01123.hp1 HG02055.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02970.hp2 HG03688.hp2 HG03942.hp1 HG04199.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0002c0003t0001 a0002c0003t0008	a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0001g0220 others(8): Show a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0001g0220 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0003g0263 a0001c0001t0006g0265 a0001c0001t0008g0130 a0001c0002t0001g0035 a0002c0003t0001g0115 a0002c0003t0008g0097	11	276	0.0399	9	c.125 others(28): Show c.1257-1201_1257-1193dupATAATAATA		PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLS1_chr3_142591393_142718664	142704635	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01256.hp2 others(8): Show HG00423.hp1 HG01070.hp1 HG01256.hp2 HG02056.hp1 HG02109.hp2 HG02273.hp2 HG02717.hp2 HG02976.hp2 NA18950.hp2 NA19043.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0003 a0001c0002t0019	a0001c0001t0003g0018 a0001c0001t0003g0199 a0001c0001t0006g0264 others(8): Show a0001c0001t0003g0018 a0001c0001t0003g0199 a0001c0001t0006g0264 a0001c0001t0006g0266 a0001c0001t0006g0272 a0001c0001t0011g0011 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0019g0040	11	276	0.0399	9	c.162 others(24): Show c.1629+71_1629+79dupTTTTTTTTT		PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLS3_chrX_115556174_115655861	115588665	C C	CTGCTGAG others(2): Show CTGCTGAGTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp1 NA19030.hp2 HG02615.hp1 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0004g0087 a0001c0002t0001g0088 a0001c0001t0001g0044 a0001c0001t0004g0087 a0001c0002t0001g0088	3	254	0.0118	9	c.-8- others(26): Show c.-8-21577_-8-21569dupTGCTGAGTT		PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLSCR4_chr3_146187335_146256105	146191739	T T	TATATATA others(2): Show TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01261.hp1 NA19062.hp2 HG01168.hp2 HG01261.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0191 a0001c0001t0003g0092 a0001c0001t0003g0239 a0001c0001t0001g0191 a0001c0001t0003g0092 a0001c0001t0003g0239	3	380	0.0079	9	c.26 others(20): Show c.2671_*2672insTATATATAT		PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding					595		chr3	TogoVar
PLTP_chr20_45893622_45917155	45901947	G G	GCCTCAAG others(2): Show GCCTCAAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG03540.hp1 HG02109.hp2 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0159 a0001c0001t0001g0033 a0001c0001t0001g0159	3	432	0.0069	9	c.117 others(26): Show c.1175+311_1175+319dupACCTTGAGG		PLTP	ENSG00000100979.15	transcript	ENST00000372431.8	protein_coding	12/15						chr20	TogoVar
PLVAP_chr19_17346455_17382342	17355225	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02145.hp1 others(19): Show HG00639.hp1 HG00735.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02735.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG04115.hp2 NA18522.hp2 NA18940.hp1 NA18944.hp2 NA18948.hp1 NA19057.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0226 others(18): Show a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0302 a0001c0001t0001g0409 a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0004g0119 a0001c0001t0005g0384 a0001c0001t0006g0115 a0001c0001t0017g0257 a0001c0001t0019g0415	22	436	0.0505	9	c.132 others(28): Show c.1323-2866_1323-2858dupATTATTATT		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding	5/5						chr19	TogoVar
PLVAP_chr19_17346455_17382342	17359693	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01192.hp1 others(5): Show HG00438.hp1 HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01952.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0006c0007t0002	a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0001g0279 others(5): Show a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0013g0385 a0006c0007t0002g0117	8	436	0.0184	9	c.132 others(26): Show c.1322+826_1322+834dupAAAAAAAAA		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding	5/5						chr19	TogoVar
PLXDC2_chr10_19811432_20294856	19816383	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp1 others(47): Show HG00639.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18961.hp1 NA18965.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(41): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0031 a0001c0001t0033 a0001c0001t0046 a0001c0001t0074 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0001t0127 a0002c0002t0006 a0002c0002t0020 a0002c0002t0083 a0002c0002t0090 a0002c0002t0091 a0002c0002t0093 a0002c0002t0101 a0003c0003t0008 a0003c0003t0009 a0003c0003t0018 a0003c0003t0042 a0003c0003t0043 a0003c0003t0081 a0003c0003t0082 a0003c0003t0104 a0003c0003t0105 a0004c0004t0040 a0004c0004t0077 a0005c0006t0027 a0005c0006t0065 a0005c0006t0129	a0001c0001t0003g0027 a0001c0001t0004g0096 a0001c0001t0004g0107 others(47): Show a0001c0001t0003g0027 a0001c0001t0004g0096 a0001c0001t0004g0107 a0001c0001t0004g0142 a0001c0001t0011g0145 a0001c0001t0012g0028 a0001c0001t0014g0019 a0001c0001t0015g0015 a0001c0001t0017g0144 a0001c0001t0021g0120 a0001c0001t0031g0004 a0001c0001t0033g0127 a0001c0001t0046g0008 a0001c0001t0074g0110 a0001c0001t0085g0103 a0001c0001t0087g0095 a0001c0001t0088g0143 a0001c0001t0095g0100 a0001c0001t0096g0082 a0001c0001t0097g0104 a0001c0001t0099g0118 a0001c0001t0100g0117 a0001c0001t0102g0109 a0001c0001t0103g0130 a0001c0001t0127g0137 a0002c0002t0006g0012 a0002c0002t0006g0014 a0002c0002t0020g0080 a0002c0002t0020g0121 a0002c0002t0083g0077 a0002c0002t0090g0148 a0002c0002t0091g0149 a0002c0002t0093g0119 a0002c0002t0101g0177 a0003c0003t0008g0018 a0003c0003t0009g0020 a0003c0003t0009g0180 a0003c0003t0018g0091 a0003c0003t0018g0098 a0003c0003t0042g0022 a0003c0003t0043g0025 a0003c0003t0081g0092 a0003c0003t0082g0147 a0003c0003t0104g0081 a0003c0003t0105g0087 a0004c0004t0040g0007 a0004c0004t0077g0079 a0005c0006t0027g0160 a0005c0006t0065g0010 a0005c0006t0129g0138	50	180	0.2778	9	c.-69 others(18): Show c.-697_-696insTTTTTTTTT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding					48		chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20020178	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02965.hp2 others(3): Show HG02109.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0038 a0001c0001t0060 a0001c0001t0071 others(3): Show a0001c0001t0038 a0001c0001t0060 a0001c0001t0071 a0001c0001t0087 a0001c0001t0097 a0002c0002t0113	a0001c0001t0038g0153 a0001c0001t0060g0073 a0001c0001t0071g0074 others(3): Show a0001c0001t0038g0153 a0001c0001t0060g0073 a0001c0001t0071g0074 a0001c0001t0087g0095 a0001c0001t0097g0104 a0002c0002t0113g0045	6	180	0.0333	9	c.324 others(28): Show c.324+18206_324+18214dupTTTTTTTTT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20253370	G G	GATAATAA others(2): Show GATAATAATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02129.hp2 NA18954.hp2 others(1): Show HG02080.hp1 HG02129.hp2 NA18954.hp2 NA19091.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0114 a0003c0003t0009 a0003c0003t0023 a0002c0002t0114 a0003c0003t0009 a0003c0003t0023	a0002c0002t0114g0064 a0003c0003t0009g0020 a0003c0003t0009g0115 others(1): Show a0002c0002t0114g0064 a0003c0003t0009g0020 a0003c0003t0009g0115 a0003c0003t0023g0066	4	180	0.0222	9	c.147 others(28): Show c.1473+7889_1473+7897dupAATAATAAT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208168723	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp1 HG03490.hp1 others(2): Show HG00280.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG04204.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0009c0013	a0001c0001t0006 a0002c0002t0005 a0004c0006t0040 others(1): Show a0001c0001t0006 a0002c0002t0005 a0004c0006t0040 a0009c0013t0066	a0001c0001t0006g0122 a0002c0002t0005g0092 a0002c0002t0005g0156 others(2): Show a0001c0001t0006g0122 a0002c0002t0005g0092 a0002c0002t0005g0156 a0004c0006t0040g0163 a0009c0013t0066g0045	5	312	0.0160	9	c.137 others(30): Show c.1372-26261_1372-26260insAAAAAAAAA		PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31						chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(2): Show AATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03669.hp2 NA18959.hp1 HG02895.hp2 HG03669.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0024 a0001c0001 a0002c0024	a0001c0001t0027 a0001c0001t0067 a0002c0024t0061 a0001c0001t0027 a0001c0001t0067 a0002c0024t0061	a0001c0001t0027g0158 a0001c0001t0067g0196 a0002c0024t0061g0031 a0001c0001t0027g0158 a0001c0001t0067g0196 a0002c0024t0061g0031	3	312	0.0096	9	c.137 others(26): Show c.1371+296_1371+297insAAAAAAAAT		PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31						chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208223192	A A	AACTTTAG others(2): Show AACTTTAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(255): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0022 a0023 a0024 a0025 a0026	a0001c0001 a0001c0004 a0001c0009 others(53): Show a0001c0001 a0001c0004 a0001c0009 a0001c0015 a0001c0018 a0001c0019 a0001c0022 a0001c0034 a0001c0035 a0001c0040 a0002c0002 a0002c0003 a0002c0016 a0002c0024 a0002c0025 a0002c0029 a0002c0045 a0002c0046 a0002c0047 a0002c0048 a0002c0056 a0002c0057 a0002c0063 a0002c0064 a0003c0005 a0003c0010 a0003c0023 a0004c0006 a0004c0008 a0004c0058 a0005c0007 a0005c0030 a0005c0065 a0006c0012 a0006c0017 a0007c0014 a0007c0020 a0007c0021 a0007c0038 a0008c0011 a0009c0013 a0009c0061 a0010c0028 a0012c0032 a0013c0037 a0014c0041 a0015c0036 a0016c0039 a0017c0033 a0018c0042 a0020c0049 a0022c0059 a0023c0060 a0024c0043 a0025c0044 a0026c0066	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(194): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0047 a0001c0001t0058 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0075 a0001c0001t0077 a0001c0001t0083 a0001c0001t0084 a0001c0001t0089 a0001c0001t0100 a0001c0001t0103 a0001c0001t0109 a0001c0001t0110 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0010 a0001c0004t0011 a0001c0004t0012 a0001c0004t0013 a0001c0004t0016 a0001c0004t0026 a0001c0004t0031 a0001c0004t0033 a0001c0004t0038 a0001c0004t0045 a0001c0004t0054 a0001c0004t0056 a0001c0004t0097 a0001c0009t0006 a0001c0009t0009 a0001c0009t0018 a0001c0009t0032 a0001c0009t0041 a0001c0009t0042 a0001c0015t0004 a0001c0015t0013 a0001c0015t0046 a0001c0018t0003 a0001c0019t0001 a0001c0019t0009 a0001c0022t0021 a0001c0022t0025 a0001c0034t0001 a0001c0035t0014 a0001c0040t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0025 a0002c0002t0030 a0002c0002t0035 a0002c0002t0043 a0002c0003t0002 a0002c0003t0004 a0002c0003t0016 a0002c0003t0017 a0002c0003t0026 a0002c0003t0059 a0002c0003t0078 a0002c0003t0098 a0002c0016t0024 a0002c0016t0048 a0002c0024t0060 a0002c0024t0061 a0002c0025t0001 a0002c0029t0015 a0002c0029t0063 a0002c0045t0052 a0002c0046t0038 a0002c0047t0001 a0002c0048t0062 a0002c0056t0002 a0002c0057t0002 a0002c0063t0007 a0002c0064t0002 a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 a0003c0005t0007 a0003c0005t0009 a0003c0005t0015 a0003c0005t0018 a0003c0005t0020 a0003c0005t0027 a0003c0005t0032 a0003c0005t0037 a0003c0005t0044 a0003c0005t0079 a0003c0005t0085 a0003c0005t0093 a0003c0005t0099 a0003c0005t0102 a0003c0005t0107 a0003c0010t0002 a0003c0010t0003 a0003c0010t0004 a0003c0010t0010 a0003c0010t0028 a0003c0010t0070 a0003c0023t0003 a0003c0023t0094 a0004c0006t0002 a0004c0006t0004 a0004c0006t0012 a0004c0006t0013 a0004c0006t0028 a0004c0006t0040 a0004c0006t0072 a0004c0006t0087 a0004c0008t0001 a0004c0008t0005 a0004c0008t0006 a0004c0008t0015 a0004c0008t0029 a0004c0008t0030 a0004c0008t0088 a0004c0058t0041 a0005c0007t0004 a0005c0007t0005 a0005c0007t0006 a0005c0007t0009 a0005c0007t0015 a0005c0007t0022 a0005c0007t0037 a0005c0007t0039 a0005c0007t0047 a0005c0007t0050 a0005c0007t0081 a0005c0007t0090 a0005c0030t0033 a0005c0030t0096 a0005c0065t0044 a0006c0012t0011 a0006c0012t0023 a0006c0012t0053 a0006c0012t0057 a0006c0017t0007 a0006c0017t0035 a0006c0017t0045 a0007c0014t0010 a0007c0014t0019 a0007c0014t0106 a0007c0020t0001 a0007c0020t0015 a0007c0021t0010 a0007c0021t0108 a0007c0038t0022 a0008c0011t0010 a0008c0011t0017 a0008c0011t0019 a0008c0011t0049 a0008c0011t0082 a0008c0011t0091 a0009c0013t0010 a0009c0013t0017 a0009c0013t0019 a0009c0013t0066 a0009c0061t0020 a0010c0028t0007 a0010c0028t0011 a0012c0032t0055 a0013c0037t0007 a0014c0041t0006 a0015c0036t0014 a0016c0039t0002 a0017c0033t0011 a0018c0042t0001 a0020c0049t0051 a0022c0059t0002 a0023c0060t0001 a0024c0043t0009 a0025c0044t0021 a0026c0066t0033	a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0178 others(254): Show a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0003g0173 a0001c0001t0004g0123 a0001c0001t0005g0102 a0001c0001t0005g0120 a0001c0001t0005g0159 a0001c0001t0005g0166 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0006g0119 a0001c0001t0006g0122 a0001c0001t0006g0127 a0001c0001t0007g0088 a0001c0001t0007g0167 a0001c0001t0008g0171 a0001c0001t0009g0295 a0001c0001t0014g0004 a0001c0001t0014g0024 a0001c0001t0014g0027 a0001c0001t0020g0223 a0001c0001t0021g0260 a0001c0001t0021g0264 a0001c0001t0022g0262 a0001c0001t0022g0270 a0001c0001t0027g0103 a0001c0001t0027g0158 a0001c0001t0030g0222 a0001c0001t0032g0236 a0001c0001t0034g0309 a0001c0001t0039g0128 a0001c0001t0047g0253 a0001c0001t0058g0028 a0001c0001t0064g0085 a0001c0001t0065g0098 a0001c0001t0067g0196 a0001c0001t0068g0044 a0001c0001t0069g0169 a0001c0001t0073g0149 a0001c0001t0075g0177 a0001c0001t0077g0050 a0001c0001t0083g0230 a0001c0001t0084g0251 a0001c0001t0089g0219 a0001c0001t0100g0271 a0001c0001t0103g0274 a0001c0001t0109g0310 a0001c0001t0110g0311 a0001c0004t0002g0055 a0001c0004t0002g0082 a0001c0004t0003g0101 a0001c0004t0004g0124 a0001c0004t0010g0294 a0001c0004t0011g0007 a0001c0004t0011g0012 a0001c0004t0012g0100 a0001c0004t0012g0125 a0001c0004t0012g0143 a0001c0004t0013g0245 a0001c0004t0013g0247 a0001c0004t0016g0005 a0001c0004t0016g0006 a0001c0004t0026g0079 a0001c0004t0031g0241 a0001c0004t0031g0242 a0001c0004t0031g0249 a0001c0004t0033g0258 a0001c0004t0038g0059 a0001c0004t0045g0235 a0001c0004t0054g0008 a0001c0004t0056g0003 a0001c0004t0097g0276 a0001c0009t0006g0189 a0001c0009t0006g0197 a0001c0009t0006g0198 a0001c0009t0009g0275 a0001c0009t0018g0194 a0001c0009t0032g0206 a0001c0009t0041g0086 a0001c0009t0042g0191 a0001c0009t0042g0193 a0001c0015t0004g0041 a0001c0015t0013g0248 a0001c0015t0046g0207 a0001c0015t0046g0208 a0001c0018t0003g0087 a0001c0018t0003g0121 a0001c0019t0001g0106 a0001c0019t0009g0268 a0001c0022t0021g0293 a0001c0022t0025g0104 a0001c0034t0001g0201 a0001c0035t0014g0025 a0001c0040t0001g0105 a0002c0002t0001g0168 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0164 a0002c0002t0007g0060 a0002c0002t0008g0118 a0002c0002t0009g0286 a0002c0002t0025g0202 a0002c0002t0025g0203 a0002c0002t0030g0209 a0002c0002t0035g0016 a0002c0002t0043g0210 a0002c0002t0043g0238 a0002c0003t0002g0053 a0002c0003t0002g0061 a0002c0003t0004g0141 a0002c0003t0004g0142 a0002c0003t0016g0017 a0002c0003t0016g0018 a0002c0003t0017g0200 a0002c0003t0026g0054 a0002c0003t0026g0077 a0002c0003t0059g0029 a0002c0003t0078g0205 a0002c0003t0098g0272 a0002c0016t0024g0056 a0002c0016t0024g0057 a0002c0016t0024g0058 a0002c0016t0048g0299 a0002c0024t0060g0030 a0002c0024t0061g0031 a0002c0025t0001g0095 a0002c0029t0015g0252 a0002c0029t0063g0067 a0002c0045t0052g0026 a0002c0046t0038g0093 a0002c0047t0001g0078 a0002c0048t0062g0032 a0002c0056t0002g0049 a0002c0057t0002g0157 a0002c0063t0007g0065 a0002c0064t0002g0066 a0003c0005t0001g0068 a0003c0005t0001g0136 a0003c0005t0002g0063 a0003c0005t0002g0064 a0003c0005t0005g0130 a0003c0005t0005g0148 a0003c0005t0007g0074 a0003c0005t0009g0259 a0003c0005t0009g0288 a0003c0005t0015g0217 a0003c0005t0018g0138 a0003c0005t0020g0212 a0003c0005t0020g0228 a0003c0005t0027g0151 a0003c0005t0032g0218 a0003c0005t0037g0107 a0003c0005t0044g0227 a0003c0005t0079g0220 a0003c0005t0085g0229 a0003c0005t0093g0266 a0003c0005t0099g0289 a0003c0005t0102g0254 a0003c0005t0107g0302 a0003c0010t0002g0047 a0003c0010t0003g0150 a0003c0010t0004g0040 a0003c0010t0004g0090 a0003c0010t0004g0091 a0003c0010t0004g0152 a0003c0010t0010g0287 a0003c0010t0028g0131 a0003c0010t0070g0035 a0003c0023t0003g0139 a0003c0023t0094g0284 a0004c0006t0002g0036 a0004c0006t0002g0037 a0004c0006t0002g0038 a0004c0006t0004g0046 a0004c0006t0004g0132 a0004c0006t0012g0134 a0004c0006t0013g0225 a0004c0006t0013g0243 a0004c0006t0028g0111 a0004c0006t0040g0094 a0004c0006t0040g0163 a0004c0006t0072g0204 a0004c0006t0087g0215 a0004c0008t0001g0089 a0004c0008t0001g0113 a0004c0008t0001g0135 a0004c0008t0005g0112 a0004c0008t0006g0195 a0004c0008t0015g0214 a0004c0008t0029g0160 a0004c0008t0029g0161 a0004c0008t0029g0162 a0004c0008t0030g0250 a0004c0008t0088g0216 a0004c0058t0041g0133 a0005c0007t0004g0140 a0005c0007t0005g0116 a0005c0007t0006g0145 a0005c0007t0009g0282 a0005c0007t0015g0221 a0005c0007t0022g0278 a0005c0007t0037g0144 a0005c0007t0039g0190 a0005c0007t0047g0273 a0005c0007t0050g0002 a0005c0007t0081g0239 a0005c0007t0090g0255 a0005c0030t0033g0277 a0005c0030t0096g0291 a0005c0065t0044g0231 a0006c0012t0011g0020 a0006c0012t0023g0001 a0006c0012t0023g0014 a0006c0012t0053g0011 a0006c0012t0057g0010 a0006c0017t0007g0075 a0006c0017t0035g0009 a0006c0017t0045g0240 a0007c0014t0010g0269 a0007c0014t0019g0224 a0007c0014t0019g0226 a0007c0014t0106g0301 a0007c0020t0001g0126 a0007c0020t0015g0237 a0007c0021t0010g0263 a0007c0021t0108g0305 a0007c0038t0022g0292 a0008c0011t0010g0280 a0008c0011t0010g0281 a0008c0011t0017g0188 a0008c0011t0019g0244 a0008c0011t0049g0304 a0008c0011t0082g0232 a0008c0011t0091g0279 a0009c0013t0010g0265 a0009c0013t0017g0108 a0009c0013t0017g0109 a0009c0013t0019g0213 a0009c0013t0066g0045 a0009c0061t0020g0246 a0010c0028t0007g0062 a0010c0028t0011g0019 a0012c0032t0055g0013 a0013c0037t0007g0170 a0014c0041t0006g0039 a0015c0036t0014g0023 a0016c0039t0002g0172 a0017c0033t0011g0022 a0018c0042t0001g0081 a0020c0049t0051g0015 a0022c0059t0002g0147 a0023c0060t0001g0110 a0024c0043t0009g0261 a0025c0044t0021g0290 a0026c0066t0033g0296	258	312	0.8269	9	c.-80 others(26): Show c.-80-5191_-80-5190insATCTAAAGT		PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	1/31						chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132132497	T T	TTCTATTC others(2): Show TTCTATTCTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02080.hp1 HG01255.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0003 a0001c0001t0010 a0001c0002t0003	a0001c0001t0010g0053 a0001c0002t0003g0004 a0001c0001t0010g0053 a0001c0002t0003g0004	2	88	0.0227	9	c.558 others(26): Show c.5589+551_5589+552insTAGAATAGA		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31						chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151529	A A	AAGAAGAA others(2): Show AAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG02809.hp2 others(1): Show HG01496.hp1 HG02647.hp1 HG02809.hp2 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0019 a0002c0036 others(1): Show a0001c0001 a0001c0019 a0002c0036 a0003c0016	a0001c0001t0014 a0001c0019t0006 a0002c0036t0006 others(1): Show a0001c0001t0014 a0001c0019t0006 a0002c0036t0006 a0003c0016t0006	a0001c0001t0014g0044 a0001c0019t0006g0075 a0002c0036t0006g0031 others(1): Show a0001c0001t0014g0044 a0001c0019t0006g0075 a0002c0036t0006g0031 a0003c0016t0006g0074	4	88	0.0455	9	c.466 others(28): Show c.4661-2884_4661-2883insCCTTCTTCT		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31						chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(2): Show GGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01123.hp2 others(5): Show HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02273.hp1 NA20300.hp1	a0003 a0011 a0003 a0011	a0003c0001 a0003c0015 a0011c0024 a0003c0001 a0003c0015 a0011c0024	a0003c0001t0001 a0003c0015t0001 a0011c0024t0001 a0003c0001t0001 a0003c0015t0001 a0011c0024t0001	a0003c0001t0001g0049 a0003c0001t0001g0050 a0003c0001t0001g0051 others(4): Show a0003c0001t0001g0049 a0003c0001t0001g0050 a0003c0001t0001g0051 a0003c0001t0001g0052 a0003c0001t0001g0053 a0003c0015t0001g0048 a0011c0024t0001g0002	8	302	0.0265	9	c.-29 others(18): Show c.-295_-294insTTCCCCCTC		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding					128		chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94268588	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01358.hp1 HG01496.hp1 others(6): Show HG00423.hp2 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02622.hp2 HG03654.hp1 NA18612.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0289 a0001c0001t0002g0029 a0001c0001t0002g0037 others(6): Show a0001c0001t0001g0289 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0131 a0001c0002t0001g0296 a0001c0002t0002g0295 a0001c0002t0003g0052 a0001c0002t0004g0204	9	298	0.0302	9	c.359 others(28): Show c.3597+3379_3597+3387dupTTTTTTTTT		PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30					INFO_REALIGN_3_PRIME	chr12	TogoVar
PMEL_chr12_55949105_55971042	55960210	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02145.hp2 others(5): Show HG01167.hp2 HG01169.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG03041.hp2 HG03225.hp1 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0010 a0001c0003 a0008c0010	a0001c0003t0001 a0008c0010t0001 a0001c0003t0001 a0008c0010t0001	a0001c0003t0001g0029 a0001c0003t0001g0045 a0001c0003t0001g0214 others(2): Show a0001c0003t0001g0029 a0001c0003t0001g0045 a0001c0003t0001g0214 a0008c0010t0001g0205 a0008c0010t0001g0210	8	396	0.0202	9	c.334 others(26): Show c.334+1098_334+1106dupTTTTTTTTT		PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding	3/10						chr12	TogoVar
PMEL_chr12_55949105_55971042	55960247	A A	AAAAGAAA others(2): Show AAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02647.hp2 others(5): Show HG01891.hp2 HG02630.hp2 HG02647.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0209 a0001c0003t0001g0211 others(4): Show a0001c0003t0001g0044 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217	8	396	0.0202	9	c.334 others(26): Show c.334+1069_334+1070insCTTTTCTTT		PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding	3/10						chr12	TogoVar
PMEL_chr12_55949105_55971042	55960537	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02818.hp2 others(3): Show HG02559.hp1 HG02630.hp1 HG02818.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0010 a0001c0003 a0008c0010	a0001c0003t0001 a0008c0010t0001 a0001c0003t0001 a0008c0010t0001	a0001c0003t0001g0029 a0001c0003t0001g0208 a0001c0003t0001g0209 others(1): Show a0001c0003t0001g0029 a0001c0003t0001g0208 a0001c0003t0001g0209 a0008c0010t0001g0210	6	396	0.0152	9	c.334 others(24): Show c.334+771_334+779dupAAAAAAAAA		PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding	3/10						chr12	TogoVar
PMF1_chr1_156208007_156245042	156240585	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00558.hp1 others(94): Show HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp2 HG02273.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp2 NA19054.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19082.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0001 a0002c0002t0001 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0008c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(90): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0003g0158 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0005t0001g0261 a0001c0005t0001g0267 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0058 a0002c0002t0001g0067 a0002c0002t0001g0072 a0002c0002t0001g0078 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0119 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0325 a0002c0002t0001g0329 a0002c0002t0001g0337 a0002c0002t0007g0094 a0003c0003t0001g0041 a0003c0003t0001g0046 a0003c0003t0001g0105 a0003c0003t0002g0006 a0003c0003t0002g0028 a0003c0003t0002g0039 a0003c0003t0002g0040 a0004c0004t0001g0034 a0004c0004t0002g0006 a0008c0007t0001g0170	97	364	0.2665	9	c.98 others(18): Show c.984_*985insAAAAAAAAA		PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding					544		chr1	TogoVar
PML_chr15_73989716_74052827	74010185	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00609.hp2 others(32): Show HG00280.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02559.hp2 HG02818.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp2 NA18960.hp2 NA18966.hp1 NA18979.hp1 NA18986.hp2 NA18990.hp1 NA19010.hp2 NA19056.hp2 NA19084.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0003c0006 a0003c0008 a0003c0010 a0003c0012 a0006c0017 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0002c0002t0001 a0003c0006t0001 a0003c0008t0001 a0003c0010t0001 a0003c0012t0001 a0006c0017t0001 a0011c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0150 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0150 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0001t0002g0027 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0246 a0001c0005t0002g0242 a0002c0002t0001g0026 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0233 a0002c0002t0001g0241 a0003c0006t0001g0267 a0003c0008t0001g0026 a0003c0010t0001g0232 a0003c0012t0001g0240 a0006c0017t0001g0223 a0011c0007t0002g0247	35	342	0.1023	9	c.602 others(28): Show c.602+11729_602+11737dupTTTTTTTTT		PML	ENSG00000140464.20	transcript	ENST00000268058.8	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PML_chr15_73989716_74052827	74016792	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(115): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0010 a0003c0012 a0006c0017 a0007c0016 a0008c0015 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0004t0003 a0002c0002t0001 a0003c0003t0002 a0003c0010t0001 a0003c0012t0001 a0006c0017t0001 a0007c0016t0001 a0008c0015t0002 a0010c0013t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(90): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0246 a0001c0001t0002g0255 a0001c0001t0002g0264 a0001c0001t0003g0029 a0001c0001t0003g0263 a0001c0001t0006g0010 a0001c0001t0006g0177 a0001c0001t0006g0196 a0001c0001t0006g0262 a0001c0001t0009g0010 a0001c0001t0010g0123 a0001c0001t0012g0205 a0001c0001t0019g0163 a0001c0004t0003g0182 a0002c0002t0001g0241 a0002c0002t0001g0245 a0003c0003t0002g0004 a0003c0003t0002g0155 a0003c0010t0001g0232 a0003c0012t0001g0240 a0006c0017t0001g0223 a0007c0016t0001g0261 a0008c0015t0002g0203 a0010c0013t0002g0152	118	342	0.3450	9	c.603 others(26): Show c.603-6022_603-6014dupTTTTTTTTT		PML	ENSG00000140464.20	transcript	ENST00000268058.8	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01109.hp2 HG01123.hp2 others(5): Show HG00597.hp1 HG01109.hp2 HG01123.hp2 HG01361.hp1 HG02040.hp1 HG02559.hp2 HG02572.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0029 a0001c0001t0001 a0001c0001t0019 a0001c0001t0029	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0115 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0019g0033 a0001c0001t0029g0321	8	408	0.0196	9	c.41 others(20): Show c.4152_*4153insTTTTTTTTT		PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding					2653		chr16	TogoVar
PMPCA_chr9_136405658_136428761	136421404	G G	GTTTTTTT others(2): Show GTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(42): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01070.hp1 HG01099.hp1 HG01168.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02135.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG04184.hp1 HG04199.hp2 NA18941.hp1 NA18943.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18970.hp2 NA18973.hp2 NA18990.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0015 a0001c0003t0002g0025 others(9): Show a0001c0003t0002g0002 a0001c0003t0002g0015 a0001c0003t0002g0025 a0001c0003t0002g0039 a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0144	45	390	0.1154	9	c.126 others(26): Show c.1264-421_1264-420insGTTTTTTTT		PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr9	TogoVar
PMS1_chr2_189779450_189882629	189809447	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02486.hp2 others(3): Show HG01261.hp1 HG02109.hp1 HG02486.hp2 HG02630.hp1 NA19030.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0005g0119	6	234	0.0256	9	c.418 others(26): Show c.418+3712_418+3720dupTTTTTTTTT		PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNLIPRP1_chr10_116585959_116614175	116607020	T T	TTAATAAT others(2): Show TTAATAATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00738.hp1 others(3): Show HG00621.hp1 HG00735.hp1 HG00738.hp1 HG02647.hp1 HG02896.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0006t0001g0064 others(3): Show a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0006t0001g0064 a0001c0006t0001g0224 a0001c0006t0001g0233 a0001c0006t0001g0235	6	420	0.0143	9	c.134 others(28): Show c.1340+1487_1340+1495dupAATAATAAT		PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA6A_chrX_153067454_153080019	153073380	T T	TCGCGTGT others(2): Show TCGCGTGTTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	9	c.320 others(16): Show c.320_328dupGCGTGTTCC	p.Arg others(13): Show p.Arg107_Phe109dup	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	610/2238	329/1200	110/399		INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153390831	A A	ACACACCA others(2): Show ACACACCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03486.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0023c0016 a0001c0001 a0023c0016	a0001c0001t0001 a0023c0016t0001 a0001c0001t0001 a0023c0016t0001	a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0085 a0023c0016t0001g0075	4	346	0.0116	9	c.60 others(20): Show c.6074_*6075insCGTGGTGTG		PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding					4807		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153390971	A A	ACACACCA others(2): Show ACACACCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(106): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0010 a0016 a0017 a0019 a0021 a0022 a0024 a0025	a0001c0001 a0001c0011 a0002c0002 others(12): Show a0001c0001 a0001c0011 a0002c0002 a0002c0022 a0003c0003 a0004c0004 a0005c0005 a0010c0013 a0016c0020 a0017c0021 a0019c0031 a0021c0018 a0022c0017 a0024c0015 a0025c0032	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0033 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0032 a0002c0002t0037 a0002c0002t0038 a0002c0022t0002 a0003c0003t0003 a0004c0004t0006 a0004c0004t0034 a0005c0005t0001 a0010c0013t0014 a0016c0020t0021 a0017c0021t0002 a0019c0031t0001 a0021c0018t0001 a0022c0017t0002 a0024c0015t0043 a0025c0032t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0055 a0001c0001t0003g0110 a0001c0001t0007g0068 a0001c0001t0010g0020 a0001c0001t0016g0126 a0001c0001t0018g0054 a0001c0001t0026g0098 a0001c0001t0033g0069 a0001c0011t0001g0087 a0002c0002t0001g0043 a0002c0002t0001g0060 a0002c0002t0001g0138 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0047 a0002c0002t0002g0078 a0002c0002t0002g0108 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0003g0109 a0002c0002t0003g0137 a0002c0002t0004g0025 a0002c0002t0005g0011 a0002c0002t0005g0111 a0002c0002t0008g0017 a0002c0002t0009g0016 a0002c0002t0012g0135 a0002c0002t0032g0119 a0002c0002t0037g0121 a0002c0002t0038g0122 a0002c0022t0002g0124 a0003c0003t0003g0006 a0004c0004t0006g0021 a0004c0004t0034g0096 a0005c0005t0001g0070 a0010c0013t0014g0028 a0016c0020t0021g0139 a0017c0021t0002g0134 a0019c0031t0001g0074 a0021c0018t0001g0064 a0022c0017t0002g0136 a0024c0015t0043g0115 a0025c0032t0002g0114	109	346	0.3150	9	c.59 others(20): Show c.5934_*5935insCATGGTGTG		PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding					4667		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153391467	T T	TCACACAC others(2): Show TCACACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	346	0.0029	9	c.54 others(20): Show c.5438_*5439insTGGTGTGTG		PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding					4171		chrX	TogoVar
PNMA6F_chrX_153312680_153326767	153326012	T T	TAGGGGGA others(2): Show TAGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	331	0.0030	9	c.-45 others(20): Show c.-4545_-4544insCTTCCCCCT		PNMA6F	ENSG00000225110.3	transcript	ENST00000436629.3	protein_coding					4246		chrX	TogoVar
PNMA8C_chr19_46419697_46433936	46423751	A A	ATTTTTTT others(2): Show ATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00735.hp2 others(20): Show HG00438.hp2 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02896.hp1 HG02922.hp1 HG03486.hp1 HG03579.hp2 HG04199.hp2 NA18961.hp2 NA18974.hp2 NA18985.hp1 NA18998.hp2 NA19001.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0027 a0001c0001t0037 a0001c0001t0042 a0001c0001t0050 a0003c0005t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0018g0000 a0001c0001t0027g0000 a0001c0001t0037g0000 a0001c0001t0042g0000 a0001c0001t0050g0000 a0003c0005t0001g0000	23	442	0.0520	9	c.39 others(20): Show c.3993_*3994insAAAAAAAAA		PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding					945		chr19	TogoVar
PNMA8C_chr19_46419697_46433936	46433223	T T	TAAAAAAA others(2): Show TAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02572.hp2 others(4): Show HG01884.hp1 HG02486.hp1 HG02572.hp2 HG02886.hp2 HG03195.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0008 a0001c0001t0022	a0001c0001t0008g0000 a0001c0001t0022g0000 a0001c0001t0008g0000 a0001c0001t0022g0000	7	442	0.0158	9	c.-48 others(20): Show c.-4865_-4864insTTTTTTTTT		PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding					4288		chr19	TogoVar
PNN_chr14_39170254_39188220	39184265	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00673.hp1 others(30): Show HG00408.hp2 HG00558.hp1 HG00673.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02300.hp1 HG03942.hp2 NA18941.hp2 NA18943.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18999.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0018 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0018 a0002c0003t0001g0033 a0002c0003t0001g0083 a0002c0003t0001g0087 a0002c0006t0001g0003	33	444	0.0743	9	c.24 others(20): Show c.2402_*2403insTTTTTTTTT		PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding					1046		chr14	TogoVar
PNN_chr14_39170254_39188220	39187618	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02071.hp2 others(13): Show HG00423.hp1 HG00673.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02300.hp1 HG02818.hp2 NA18963.hp2 NA18966.hp2 NA18989.hp2 NA18990.hp1 NA19010.hp2 NA19011.hp2 NA19078.hp1 NA19080.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0001 a0002c0003t0001 a0002c0006t0001	a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0033 others(2): Show a0002c0003t0001g0003 a0002c0003t0001g0013 a0002c0003t0001g0033 a0002c0003t0001g0083 a0002c0006t0001g0023	16	444	0.0360	9	c.57 others(20): Show c.5755_*5756insAAAAAAAAA		PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding					4399		chr14	TogoVar
PNPLA1_chr6_36265060_36318955	36273728	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00735.hp1 others(32): Show HG00558.hp1 HG00639.hp1 HG00735.hp1 HG01255.hp1 HG01952.hp1 HG01981.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03492.hp2 HG03516.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18944.hp2 NA18959.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18992.hp2 NA19005.hp1 NA19005.hp2 NA19065.hp1 NA19068.hp2 NA19081.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0028	a0001c0001 a0001c0003 a0002c0002 others(9): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0006 a0004c0007 a0004c0008 a0006c0009 a0006c0016 a0007c0010 a0011c0021 a0028c0034	a0001c0001t0001 a0001c0001t0002 a0001c0003t0014 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0014 a0002c0002t0001 a0003c0004t0001 a0003c0006t0001 a0004c0007t0004 a0004c0008t0019 a0006c0009t0004 a0006c0016t0004 a0007c0010t0001 a0011c0021t0001 a0028c0034t0003	a0001c0001t0001g0102 a0001c0001t0002g0087 a0001c0001t0002g0091 others(32): Show a0001c0001t0001g0102 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0003t0014g0097 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0144 a0002c0002t0001g0146 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0085 a0003c0004t0001g0142 a0003c0006t0001g0055 a0003c0006t0001g0101 a0003c0006t0001g0104 a0004c0007t0004g0056 a0004c0007t0004g0057 a0004c0007t0004g0086 a0004c0008t0019g0140 a0006c0009t0004g0071 a0006c0009t0004g0359 a0006c0016t0004g0103 a0007c0010t0001g0089 a0007c0010t0001g0092 a0007c0010t0001g0094 a0007c0010t0001g0143 a0011c0021t0001g0088 a0028c0034t0003g0145	35	386	0.0907	9	c.205 others(26): Show c.205+3080_205+3088dupAAAAAAAAA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36288443	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18954.hp1 NA18969.hp1 others(6): Show NA18950.hp2 NA18954.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA19003.hp2 NA19004.hp2 NA19057.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0217 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0333	9	386	0.0233	9	c.206 others(26): Show c.206-2865_206-2857dupTTTTTTTTT		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA4_chrX_7893247_7932413	7899624	G G	GGGCCAGA others(2): Show GGGCCAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0221 a0001c0001t0078g0221	1	338	0.0030	9	c.10 others(20): Show c.1061_*1062insTCTCTGGCC		PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding	7/7				1061		chrX	TogoVar
PNPLA6_chr19_7530717_7566764	7545980	A A	ATTCTGAG others(2): Show ATTCTGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18959.hp1 NA19002.hp1 others(3): Show HG00558.hp2 NA18959.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0201 a0001c0001t0001g0221 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0299	6	416	0.0144	9	c.160 others(28): Show c.1608+2897_1608+2905dupTTCTGAGAG		PNPLA6	ENSG00000032444.17	transcript	ENST00000600737.6	protein_coding	13/31					INFO_REALIGN_3_PRIME	chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137473798	T T	TACCGACC others(2): Show TACCGACCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02155.hp1 HG03017.hp1 others(5): Show HG01891.hp1 HG02155.hp1 HG03017.hp1 HG03139.hp1 HG03942.hp1 HG04115.hp2 NA18940.hp2 NA18944.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0025 a0002c0016 a0003c0008 others(3): Show a0001c0025 a0002c0016 a0003c0008 a0003c0022 a0003c0026 a0003c0058	a0001c0025t0001 a0002c0016t0001 a0003c0008t0001 others(3): Show a0001c0025t0001 a0002c0016t0001 a0003c0008t0001 a0003c0022t0001 a0003c0026t0001 a0003c0058t0001	a0001c0025t0001g0011 a0002c0016t0001g0173 a0003c0008t0001g0087 others(5): Show a0001c0025t0001g0011 a0002c0016t0001g0173 a0003c0008t0001g0087 a0003c0008t0001g0091 a0003c0022t0001g0088 a0003c0022t0001g0185 a0003c0026t0001g0012 a0003c0058t0001g0176	8	188	0.0426	9	c.288 others(28): Show c.2882+4235_2882+4236insGGGGTCGGT		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	25/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CCCGGGGG others(2): Show CCCGGGGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02273.hp1 HG02273.hp2 others(3): Show HG00099.hp1 HG02273.hp1 HG02273.hp2 HG02970.hp2 HG03540.hp1 NA18952.hp1	a0001 a0018 a0022 others(1): Show a0001 a0018 a0022 a0032	a0001c0001 a0001c0002 a0018c0030 others(2): Show a0001c0001 a0001c0002 a0018c0030 a0022c0053 a0032c0036	a0001c0001t0001 a0001c0002t0001 a0018c0030t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0018c0030t0001 a0022c0053t0001 a0032c0036t0001	a0001c0001t0001g0079 a0001c0002t0001g0110 a0001c0002t0001g0144 others(3): Show a0001c0001t0001g0079 a0001c0002t0001g0110 a0001c0002t0001g0144 a0018c0030t0001g0156 a0022c0053t0001g0154 a0032c0036t0001g0059	6	188	0.0319	9	c.147 others(28): Show c.1474-1011_1474-1010insATCCCCCGG		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGAGGGGG others(2): Show CGAGGGGGAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0002 a0027 a0002 a0027	a0002c0004 a0027c0046 a0002c0004 a0027c0046	a0002c0004t0001 a0027c0046t0001 a0002c0004t0001 a0027c0046t0001	a0002c0004t0001g0180 a0027c0046t0001g0102 a0002c0004t0001g0180 a0027c0046t0001g0102	2	188	0.0106	9	c.147 others(28): Show c.1474-1011_1474-1010insATCCCCCTC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518436	C C	CTCCACTC others(2): Show CTCCACTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp1 HG02273.hp2 others(4): Show HG00544.hp1 HG01261.hp1 HG02273.hp2 HG02683.hp1 HG03017.hp2 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0001c0039	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0039t0001	a0001c0001t0001g0074 a0001c0002t0001g0003 a0001c0002t0001g0009 others(4): Show a0001c0001t0001g0074 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0144 a0001c0012t0001g0008 a0001c0012t0001g0037 a0001c0039t0001g0007	7	188	0.0372	9	c.108 others(28): Show c.1084+1480_1084+1481insCAGAGTGGA		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34						chr9	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(2): Show TAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01175.hp1 others(24): Show HG00140.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01516.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG03239.hp2 HG03688.hp1 NA18943.hp2 NA18969.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18994.hp1 NA19006.hp2 NA19080.hp1 NA19084.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0037 a0001c0004t0007 a0002c0005t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(24): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0365 a0001c0001t0011g0158 a0001c0001t0012g0143 a0001c0001t0012g0146 a0001c0001t0012g0153 a0001c0001t0037g0178 a0001c0004t0007g0005 a0001c0004t0007g0060 a0002c0005t0001g0175	27	390	0.0692	9	c.-14 others(20): Show c.-1456_-1455insTTTTTTTTT		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding					1435		chr2	TogoVar
PODNL1_chr19_13926187_13943417	13939868	C C	CAATAATA others(2): Show CAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG02055.hp1 others(4): Show HG00639.hp1 HG01256.hp2 HG02055.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0002g0055 a0002c0002t0001g0119 others(1): Show a0001c0001t0001g0023 a0001c0001t0002g0055 a0002c0002t0001g0119 a0002c0002t0001g0120	7	432	0.0162	9	c.-16 others(20): Show c.-1696_-1688dupATTATTATT		PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding					1452		chr19	TogoVar
PODXL_chr7_131495271_131561628	131526739	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG01891.hp1 others(24): Show HG00639.hp2 HG01884.hp2 HG01891.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0009 a0011 a0012 a0023	a0002c0003 a0002c0012 a0005c0005 others(9): Show a0002c0003 a0002c0012 a0005c0005 a0005c0006 a0005c0029 a0006c0007 a0006c0011 a0009c0014 a0009c0018 a0011c0027 a0012c0032 a0023c0046	a0002c0003t0001 a0002c0003t0011 a0002c0003t0023 others(17): Show a0002c0003t0001 a0002c0003t0011 a0002c0003t0023 a0002c0012t0042 a0002c0012t0044 a0005c0005t0003 a0005c0005t0013 a0005c0005t0041 a0005c0006t0001 a0005c0029t0001 a0006c0007t0001 a0006c0011t0003 a0006c0011t0013 a0009c0014t0001 a0009c0014t0006 a0009c0018t0001 a0009c0018t0019 a0011c0027t0007 a0012c0032t0038 a0023c0046t0002	a0002c0003t0001g0186 a0002c0003t0001g0286 a0002c0003t0001g0287 others(24): Show a0002c0003t0001g0186 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0289 a0002c0003t0011g0305 a0002c0003t0023g0022 a0002c0012t0042g0288 a0002c0012t0044g0431 a0005c0005t0003g0346 a0005c0005t0013g0334 a0005c0005t0041g0367 a0005c0006t0001g0384 a0005c0029t0001g0046 a0005c0029t0001g0051 a0006c0007t0001g0079 a0006c0007t0001g0170 a0006c0011t0003g0171 a0006c0011t0013g0177 a0009c0014t0001g0036 a0009c0014t0006g0034 a0009c0014t0006g0035 a0009c0018t0001g0030 a0009c0018t0019g0024 a0009c0018t0019g0031 a0011c0027t0007g0053 a0012c0032t0038g0320 a0023c0046t0002g0314	27	440	0.0614	9	c.101 others(28): Show c.101-15315_101-15307dupAAAAAAAAA		PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8						chr7	TogoVar
POF1B_chrX_85272396_85384665	85360568	C C	CACACACA others(2): Show CACACACACT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp2 others(15): Show HG00738.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG02055.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03225.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0004c0007	a0001c0001t0003 a0001c0001t0013 a0001c0004t0003 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0004t0003 a0003c0005t0001 a0004c0007t0003	a0001c0001t0003g0187 a0001c0001t0013g0170 a0001c0004t0003g0010 others(14): Show a0001c0001t0003g0187 a0001c0001t0013g0170 a0001c0004t0003g0010 a0001c0004t0003g0030 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0203 a0001c0004t0003g0204 a0001c0004t0003g0205 a0001c0004t0003g0206 a0003c0005t0001g0167 a0003c0005t0001g0168 a0003c0005t0001g0171 a0003c0005t0001g0181 a0003c0005t0001g0182 a0003c0005t0001g0183 a0004c0007t0003g0033	18	227	0.0793	9	c.358 others(24): Show c.358-939_358-938insAGTGTGTGT		POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16						chrX	TogoVar
POFUT1_chr20_32202880_32243658	32242834	A A	ATATATAT others(2): Show ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02895.hp2 others(1): Show HG02818.hp1 HG02895.hp1 HG02895.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0008 a0001c0003t0006 a0001c0009t0006 a0001c0001t0008 a0001c0003t0006 a0001c0009t0006	a0001c0001t0008g0011 a0001c0003t0006g0026 a0001c0009t0006g0046 a0001c0001t0008g0011 a0001c0003t0006g0026 a0001c0009t0006g0046	4	322	0.0124	9	c.81 others(20): Show c.8173_*8174insTATATATAT		POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding					4177		chr20	TogoVar

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