Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLPP4_chr10_120452227_120597065	120574162	ACACACAC others(15): Show ACACACACTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0296 a0001c0001t0005g0296	1	328	0.0031	-22	c.446 others(37): Show c.446-967_446-946delACACACTCTCTCTCTCTCTCTC	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPP4_chr10_120452227_120597065	120574164	ACACACTC others(15): Show ACACACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02895.hp1 others(3): Show HG02145.hp2 HG02451.hp1 HG02895.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0016	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0248 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0248 a0001c0001t0004g0006 a0001c0001t0006g0074 a0001c0002t0016g0061	6	328	0.0183	-22	c.446 others(37): Show c.446-965_446-944delACACTCTCTCTCTCTCTCTCTC	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101078168	AAGAAGAA others(15): Show AAGAAGAAGAAGAAGAAGAGGAG	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0192	1	203	0.0049	-22	c.-46 others(41): Show c.-46+49067_-46+49088delAGAAGAAGAAGAAGAAGAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7			chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101180094	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01256.hp1 others(26): Show HG00438.hp1 HG00741.hp2 HG01256.hp1 HG01346.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp1 HG02135.hp1 HG02135.hp2 HG02723.hp1 HG02735.hp2 HG02965.hp1 HG02976.hp2 HG03209.hp2 HG03579.hp1 HG03710.hp1 HG04204.hp2 NA18942.hp1 NA18946.hp2 NA18955.hp2 NA18966.hp1 NA18974.hp1 NA18982.hp1 NA19009.hp2 NA19081.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0114 others(26): Show a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0005g0071 a0001c0001t0005g0190 a0001c0001t0005g0196 a0001c0001t0011g0176 a0001c0001t0016g0023 a0001c0001t0019g0098 a0001c0002t0003g0024 a0001c0002t0003g0136 a0001c0003t0001g0039	29	203	0.1429	-22	c.-45 others(39): Show c.-45-5327_-45-5306delTATATATATATATATATATATA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101180123	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02145.hp1 others(7): Show HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0002t0003 a0001c0002t0013	a0001c0001t0001g0143 a0001c0001t0002g0033 a0001c0001t0002g0150 others(7): Show a0001c0001t0001g0143 a0001c0001t0002g0033 a0001c0001t0002g0150 a0001c0001t0004g0090 a0001c0001t0007g0088 a0001c0001t0014g0073 a0001c0002t0003g0133 a0001c0002t0003g0149 a0001c0002t0013g0089 a0001c0002t0013g0091	10	203	0.0493	-22	c.-45 others(39): Show c.-45-5325_-45-5304delTATATATATATATATATATACA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101180185	CATATATA others(15): Show CATATATACACATACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02129.hp2 HG02165.hp1 others(2): Show HG00408.hp1 HG02129.hp2 HG02165.hp1 NA19009.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0081 a0001c0001t0001g0124 a0001c0001t0002g0031 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0124 a0001c0001t0002g0031 a0001c0001t0002g0102 a0001c0001t0004g0194	5	203	0.0246	-22	c.-45 others(39): Show c.-45-5243_-45-5222delTATATATACACATACACACACA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101246055	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA21309.hp1 HG01934.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0152 a0001c0001t0001g0103 a0001c0001t0002g0152	2	203	0.0099	-22	c.64- others(39): Show c.64-23791_64-23770delTATATATATATATATATATATA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	99003056	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	280	0.0036	-22	c.237 others(39): Show c.237+1357_237+1378delATATATATATATATATATATAT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5			chr1	TogoVar
PLSCR4_chr3_146187335_146256105	146191726	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG06807.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0091 a0001c0001t0007g0063 a0001c0001t0007g0091	2	380	0.0053	-22	c.26 others(33): Show c.2663_*2684delAAAAAAAAAATATATATATATA	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		608		chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191730	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0279 a0002c0002t0029g0279	1	380	0.0026	-22	c.26 others(33): Show c.2659_*2680delAAAAAAAAAAAAAATATATATA	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		604		chr3	TogoVar
PLXDC2_chr10_19811432_20294856	20044205	CTCTCTGT others(15): Show CTCTCTGTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp1 HG03492.hp2 others(2): Show HG01261.hp1 HG02886.hp1 HG03492.hp2 NA18961.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0116 a0002c0002t0005 others(2): Show a0001c0001t0001 a0001c0001t0116 a0002c0002t0005 a0002c0002t0024 a0002c0002t0090	a0001c0001t0001g0152 a0001c0001t0116g0052 a0002c0002t0005g0040 others(2): Show a0001c0001t0001g0152 a0001c0001t0116g0052 a0002c0002t0005g0040 a0002c0002t0024g0043 a0002c0002t0090g0148	5	180	0.0278	-22	c.325 others(39): Show c.325-2660_325-2639delCTGTCTTTCTTTCTTTCTTTCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20051395	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00673.hp2 others(69): Show HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01261.hp1 HG01884.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18978.hp1 NA19043.hp1 NA19043.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(55): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0097 a0001c0001t0100 a0001c0001t0111 a0001c0001t0115 a0001c0001t0116 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0128 a0001c0005t0118 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0022 a0002c0002t0032 a0002c0002t0034 a0002c0002t0048 a0002c0002t0049 a0002c0002t0052 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0002t0090 a0002c0002t0093 a0002c0002t0101 a0002c0002t0113 a0002c0002t0114 a0002c0002t0120 a0003c0003t0008 a0003c0003t0009 a0003c0003t0023 a0003c0003t0042 a0003c0003t0105	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0132 others(69): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0010g0013 a0001c0001t0010g0063 a0001c0001t0010g0131 a0001c0001t0012g0028 a0001c0001t0012g0176 a0001c0001t0025g0026 a0001c0001t0025g0067 a0001c0001t0029g0003 a0001c0001t0030g0001 a0001c0001t0031g0004 a0001c0001t0037g0011 a0001c0001t0041g0057 a0001c0001t0046g0008 a0001c0001t0047g0124 a0001c0001t0050g0125 a0001c0001t0051g0179 a0001c0001t0054g0135 a0001c0001t0055g0024 a0001c0001t0059g0150 a0001c0001t0067g0032 a0001c0001t0068g0173 a0001c0001t0070g0005 a0001c0001t0084g0141 a0001c0001t0085g0103 a0001c0001t0087g0095 a0001c0001t0097g0104 a0001c0001t0100g0117 a0001c0001t0111g0049 a0001c0001t0115g0072 a0001c0001t0116g0052 a0001c0001t0121g0068 a0001c0001t0123g0046 a0001c0001t0125g0055 a0001c0001t0128g0154 a0001c0005t0118g0048 a0002c0002t0001g0076 a0002c0002t0002g0017 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0005g0040 a0002c0002t0006g0075 a0002c0002t0006g0151 a0002c0002t0007g0037 a0002c0002t0007g0038 a0002c0002t0007g0050 a0002c0002t0019g0108 a0002c0002t0022g0056 a0002c0002t0032g0002 a0002c0002t0034g0094 a0002c0002t0048g0084 a0002c0002t0049g0069 a0002c0002t0052g0174 a0002c0002t0053g0139 a0002c0002t0063g0165 a0002c0002t0064g0021 a0002c0002t0090g0148 a0002c0002t0093g0119 a0002c0002t0101g0177 a0002c0002t0113g0045 a0002c0002t0114g0064 a0002c0002t0120g0044 a0003c0003t0008g0114 a0003c0003t0009g0115 a0003c0003t0009g0180 a0003c0003t0023g0066 a0003c0003t0042g0022 a0003c0003t0105g0087	72	180	0.4000	-22	c.471 others(39): Show c.471+4407_471+4428delATATATATATATATATATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126667	CACACGTT others(15): Show CACACGTTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0080 a0002c0002t0020g0080	1	180	0.0056	-22	c.542 others(41): Show c.542-16623_542-16602delGTTATATATGTATATATAACAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20162061	AGAGAGAG others(15): Show AGAGAGAGAGAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp1 others(2): Show HG00733.hp1 HG01168.hp1 HG01169.hp1 HG02970.hp2 NA18982.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0006 a0002c0002 a0003c0003 a0005c0006	a0002c0002t0035 a0003c0003t0008 a0003c0003t0018 others(2): Show a0002c0002t0035 a0003c0003t0008 a0003c0003t0018 a0003c0003t0079 a0005c0006t0065	a0002c0002t0035g0116 a0003c0003t0008g0018 a0003c0003t0018g0091 others(2): Show a0002c0002t0035g0116 a0003c0003t0008g0018 a0003c0003t0018g0091 a0003c0003t0079g0090 a0005c0006t0065g0010	5	180	0.0278	-22	c.784 others(39): Show c.784-2404_784-2383delGAGAGAGAGAAGGAAGGAAGGA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208022027	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG02886.hp1 others(5): Show HG02015.hp1 HG02083.hp2 HG02886.hp1 HG03130.hp2 HG03669.hp2 NA18965.hp2 NA18983.hp2 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0047 a0001c0001t0067 a0001c0001t0069 others(5): Show a0001c0001t0047 a0001c0001t0067 a0001c0001t0069 a0001c0015t0013 a0002c0002t0008 a0002c0002t0104 a0002c0003t0002 a0003c0005t0020	a0001c0001t0047g0253 a0001c0001t0067g0196 a0001c0001t0069g0169 others(5): Show a0001c0001t0047g0253 a0001c0001t0067g0196 a0001c0001t0069g0169 a0001c0015t0013g0248 a0002c0002t0008g0187 a0002c0002t0104g0297 a0002c0003t0002g0053 a0003c0005t0020g0212	8	312	0.0256	-22	c.51 others(33): Show c.5194_*5215delACACACACACACACACACACAC	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding		214		chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151390	AAGGAGGA others(15): Show AAGGAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0077 a0001c0010t0011g0077	1	88	0.0114	-22	c.466 others(41): Show c.4661-2766_4661-2745delCCTTCCTCCTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0083 a0001c0031t0002g0083	1	88	0.0114	-22	c.150 others(43): Show c.1503+15459_1503+15480delTTTTTTTTTTTTTTTTTTTTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94264501	GCCCGGGC others(15): Show GCCCGGGCCGGGCCTGGCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00639.hp1 others(18): Show HG00140.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01192.hp1 HG01358.hp1 HG01981.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02970.hp2 HG03225.hp2 HG03654.hp1 NA18954.hp2 NA18961.hp1 NA18977.hp2 NA18992.hp2 NA19007.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0011 a0001c0012 a0002c0016 a0002c0020 a0005c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0004t0003 a0001c0008t0001 a0001c0011t0002 a0001c0012t0002 a0002c0016t0001 a0002c0020t0003 a0005c0045t0001	a0001c0001t0001g0153 a0001c0001t0001g0289 a0001c0001t0001g0293 others(18): Show a0001c0001t0001g0153 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0002g0029 a0001c0001t0002g0131 a0001c0001t0003g0160 a0001c0001t0004g0019 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0016g0196 a0001c0002t0001g0193 a0001c0002t0001g0215 a0001c0002t0003g0052 a0001c0002t0004g0204 a0001c0004t0003g0226 a0001c0008t0001g0287 a0001c0011t0002g0027 a0001c0012t0002g0250 a0002c0016t0001g0257 a0002c0020t0003g0054 a0005c0045t0001g0175	21	298	0.0705	-22	c.345 others(39): Show c.3451-575_3451-554delCGGGCCGGGCCTGGCCTGGCCC	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	20/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94297929	CTTTATCT others(15): Show CTTTATCTGGCTTTTAGTGGAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0001 a0004c0042t0001	a0004c0042t0001g0049 a0004c0042t0001g0049	1	298	0.0034	-22	c.407 others(39): Show c.4074+508_4074+529delTTATCTGGCTTTTAGTGGAATT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94302371	CATTTTAT others(15): Show CATTTTATTCATTCGACAAATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp2 HG02965.hp2 others(2): Show HG02280.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0190 a0001c0003t0001g0144 a0001c0003t0001g0145 others(2): Show a0001c0002t0001g0190 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0170 a0001c0004t0001g0198	5	298	0.0168	-22	c.438 others(41): Show c.4386+1315_4386+1336delATTTTATTCATTCGACAAATAT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	28/30			chr12	TogoVar
PMM1_chr22_41571900_41594840	41572366	ACCCACCC others(15): Show ACCCACCCACCCACCCACCCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	330	0.0030	-22	c.49 others(33): Show c.4930_*4951delGGTGGGTGGGTGGGTGGGTGGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4533		chr22	TogoVar
PMM2_chr16_8792839_8854325	8827719	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp2 others(96): Show HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18951.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0022 a0001c0001t0031 a0001c0001t0040 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0040 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0385 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0259 a0001c0001t0002g0273 a0001c0001t0002g0381 a0001c0001t0003g0090 a0001c0001t0003g0370 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0038 a0001c0001t0022g0330 a0001c0001t0031g0045 a0001c0001t0040g0068 a0001c0005t0001g0065 a0001c0005t0001g0066	99	408	0.2427	-22	c.639 others(41): Show c.639+14634_639+14655delATATATATATATATATATATAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8827745	TATATATA others(15): Show TATATATATATATATATGCACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG01891.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0010g0027 a0001c0001t0010g0028	2	408	0.0049	-22	c.639 others(41): Show c.639+14642_639+14663delATATATATATATATGCACACAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMS1_chr2_189779450_189882629	189860800	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	234	0.0043	-22	c.185 others(41): Show c.1857-2925_1857-2904delTTTTTTTTTTTTTTTTTTTTTT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864683	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	234	0.0043	-22	c.234 others(39): Show c.2342+457_2342+478delAAAATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864685	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	234	0.0043	-22	c.234 others(39): Show c.2342+459_2342+480delAATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864687	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0033 a0001c0001t0004g0133 a0001c0001t0002g0033 a0001c0001t0004g0133	2	234	0.0086	-22	c.234 others(39): Show c.2342+486_2342+507delATATATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNISR_chr6_99393050_99430308	99419169	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19063.hp1 NA19078.hp1 NA19002.hp1 NA19063.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101	3	406	0.0074	-22	c.-11 others(41): Show c.-111-2763_-111-2742delCTTTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNLIPRP1_chr10_116585959_116614175	116612160	TTGGGCTG others(15): Show TTGGGCTGCATTCAAAGCCAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 NA20905.hp1 HG04115.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	-22	c.30 others(33): Show c.3045_*3066delTGGGCTGCATTCAAAGCCAATA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding		2986		chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116443797	GTGTGCAT others(15): Show GTGTGCATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18945.hp2 HG01496.hp1 NA18945.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0133 a0003c0003t0004g0197 a0001c0001t0001g0133 a0003c0003t0004g0197	2	288	0.0069	-22	c.325 others(37): Show c.325-583_325-562delGTGCATATATATATATATATAT	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNPLA7_chr9_137454952_137555402	137495291	CGGGCGAC others(15): Show CGGGCGACGCTGTCAGAACCACT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	188	0.0053	-22	c.201 others(39): Show c.2014-167_2014-146delAGTGGTTCTGACAGCGTCGCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	18/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505300	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG02647.hp2 others(1): Show HG00323.hp1 HG01192.hp1 HG02647.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0279 a0001c0001t0001g0281 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0340	4	390	0.0103	-22	c.120 others(41): Show c.1207-2680_1207-2659delTATATATATATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505332	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	390	0.0026	-22	c.120 others(41): Show c.1207-2712_1207-2691delAATATATATATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505340	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	390	0.0026	-22	c.120 others(41): Show c.1207-2720_1207-2699delAAAAAAAAAATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01243.hp1 others(46): Show HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01891.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 NA18906.hp2 NA18943.hp1 NA18972.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0003 a0005c0006 others(1): Show a0001c0001 a0003c0003 a0005c0006 a0008c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0003c0003t0004 a0003c0003t0016 a0003c0003t0018 a0003c0003t0020 a0003c0003t0034 a0003c0003t0035 a0005c0006t0004 a0008c0013t0004	a0001c0001t0002g0346 a0001c0001t0003g0292 a0001c0001t0003g0294 others(46): Show a0001c0001t0002g0346 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0003g0323 a0001c0001t0003g0332 a0001c0001t0003g0342 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0009g0308 a0001c0001t0017g0329 a0003c0003t0004g0066 a0003c0003t0004g0069 a0003c0003t0004g0072 a0003c0003t0004g0074 a0003c0003t0004g0075 a0003c0003t0004g0076 a0003c0003t0004g0079 a0003c0003t0004g0080 a0003c0003t0004g0081 a0003c0003t0004g0083 a0003c0003t0004g0084 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0088 a0003c0003t0004g0089 a0003c0003t0004g0091 a0003c0003t0004g0092 a0003c0003t0004g0093 a0003c0003t0004g0094 a0003c0003t0004g0095 a0003c0003t0004g0096 a0003c0003t0004g0097 a0003c0003t0004g0098 a0003c0003t0004g0102 a0003c0003t0004g0107 a0003c0003t0004g0110 a0003c0003t0016g0070 a0003c0003t0016g0071 a0003c0003t0018g0100 a0003c0003t0020g0067 a0003c0003t0020g0101 a0003c0003t0034g0078 a0003c0003t0035g0077 a0005c0006t0004g0106 a0008c0013t0004g0013	49	390	0.1256	-22	c.128 others(41): Show c.1285-1507_1285-1486delTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691866	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	390	0.0026	-22	c.161 others(39): Show c.161+1775_161+1796delAAAAAAAAAATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
POC1B_chr12_89414718_89531047	89449782	TGATAATG others(15): Show TGATAATGGATCAAGAACAAACA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	370	0.0027	-22	c.111 others(41): Show c.1113+9834_1113+9855delTGTTTGTTCTTGATCCATTATC	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	10/11			chr12	TogoVar
POC1B_chr12_89414718_89531047	89490910	ATCCAAGC others(15): Show ATCCAAGCCAGGACCTGGACTGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(205): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(202): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0288 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0002g0285 a0001c0001t0003g0039 a0001c0001t0003g0206 a0001c0001t0004g0037 a0001c0001t0004g0287 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0012g0107 a0001c0001t0014g0147 a0001c0001t0015g0361 a0001c0005t0002g0140	208	370	0.5622	-22	c.452 others(39): Show c.452+1004_452+1025delGCAGTCCAGGTCCTGGCTTGGA	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131499777	TTACATAT others(15): Show TTACATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0427 a0004c0004t0003g0427	1	440	0.0023	-22	c.45 others(33): Show c.4512_*4533delTATATATATATATATATATGTA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		493		chr7	TogoVar
PODXL_chr7_131495271_131561628	131556731	CGGGCGGG others(15): Show CGGGCGGGGCCGGGGCCGGGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0306 a0002c0003t0002g0306	1	440	0.0023	-22	c.-39 others(31): Show c.-394_-373delAGCCCCGGCCCCGGCCCCGCCC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		104		chr7	TogoVar
POGZ_chr1_151397724_151464494	151458880	GCCGCCGG others(15): Show GCCGCCGGCCCTTCGCGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03098.hp2 HG03139.hp1 HG01433.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0005g0172 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0005g0172	3	320	0.0094	-22	c.-2+ others(35): Show c.-2+250_-2+271delGAGCCGCGCGAAGGGCCGGCGG	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	1/18			chr1	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG02015.hp1 others(16): Show HG00738.hp1 HG01106.hp1 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02559.hp1 HG02630.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03688.hp1 HG04184.hp2 NA18522.hp1 NA18960.hp1 NA18988.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 others(16): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0159 a0001c0001t0001g0177 a0004c0004t0001g0068	19	197	0.0965	-22	c.296 others(41): Show c.2965-3810_2965-3789delTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24947246	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	197	0.0051	-22	c.426 others(43): Show c.4261+16715_4261+16736delTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	36/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLDIP3_chr22_42578721_42619883	42608755	TATTTGAA others(15): Show TATTTGAACAGCCTAAAAGGCAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0219 a0002c0002t0004g0219	1	360	0.0028	-22	c.60- others(37): Show c.60-5617_60-5596delGTGCCTTTTAGGCTGTTCAAAT	POLDIP3	ENSG00000100227.19	transcript	ENST00000252115.10	protein_coding	1/8			chr22	TogoVar
POLE4_chr2_74953643_74975128	74956934	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	476	0.0021	-22	c.-17 others(33): Show c.-1745_-1724delTGTGTGTGTGTGTGTGTGTGTG	POLE4	ENSG00000115350.12	transcript	ENST00000483063.2	protein_coding		1708		chr2	TogoVar
POLR1A_chr2_86015216_86110886	86077809	GCGCACAC others(15): Show GCGCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp2 others(14): Show HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG02970.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18979.hp2 NA19043.hp2 NA19084.hp1	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0001 a0006c0007 a0017c0022 a0001c0001 a0006c0007 a0017c0022	a0001c0001t0023 a0001c0001t0034 a0006c0007t0005 others(2): Show a0001c0001t0023 a0001c0001t0034 a0006c0007t0005 a0006c0007t0051 a0017c0022t0005	a0001c0001t0023g0320 a0001c0001t0034g0321 a0006c0007t0005g0058 others(14): Show a0001c0001t0023g0320 a0001c0001t0034g0321 a0006c0007t0005g0058 a0006c0007t0005g0059 a0006c0007t0005g0062 a0006c0007t0005g0063 a0006c0007t0005g0065 a0006c0007t0005g0066 a0006c0007t0005g0067 a0006c0007t0005g0068 a0006c0007t0005g0069 a0006c0007t0005g0070 a0006c0007t0005g0071 a0006c0007t0005g0072 a0006c0007t0005g0073 a0006c0007t0051g0061 a0017c0022t0005g0064	17	340	0.0500	-22	c.138 others(37): Show c.1380+28_1380+49delTGTGTGTGTGTGTGTGTGTGCG	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	11/33			chr2	TogoVar
POLR1A_chr2_86015216_86110886	86077811	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0060 a0006c0007t0005g0060	1	340	0.0029	-22	c.138 others(37): Show c.1380+26_1380+47delTGTGTGTGTGTGTGTGTGTGTG	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	11/33			chr2	TogoVar
POLR2E_chr19_1081574_1100375	1095926	ACCAGCCT others(15): Show ACCAGCCTAGCCTGGGTATCTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA21309.hp2 HG02976.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0076 a0001c0001t0041 a0001c0001t0076	a0001c0001t0041g0221 a0001c0001t0076g0142 a0001c0001t0041g0221 a0001c0001t0076g0142	2	442	0.0045	-22	c.-63 others(31): Show c.-633_-612delGGAGATACCCAGGCTAGGCTGG	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		552		chr19	TogoVar
POLR2F_chr22_37948699_37974312	37951797	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	404	0.0025	-22	c.-19 others(33): Show c.-1990_-1969delTTTTTTTTTTTTTTTTTTTTTT	POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding		1901		chr22	TogoVar
POLR2G_chr11_62756580_62771710	62757073	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG01884.hp2 others(8): Show HG01106.hp2 HG01496.hp1 HG01884.hp2 HG02602.hp1 HG02717.hp2 HG02922.hp1 HG02970.hp1 HG03471.hp1 HG03704.hp1 NA19030.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0059 a0001c0001t0001g0060	11	368	0.0299	-22	c.-45 others(33): Show c.-4575_-4554delATATATATATATATATATATAT	POLR2G	ENSG00000168002.12	transcript	ENST00000301788.12	protein_coding		4506		chr11	TogoVar

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