Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(97): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATATATATATACAGTAACTTTTAAA AAGTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG02280.hp1 others(2): Show HG01433.hp1 HG01433.hp2 HG02280.hp1 HG03688.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0096 others(2): Show a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0096 a0001c0001t0002g0172 a0001c0001t0009g0171	5	408	0.0123	104	c.181 others(121): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(97): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATACAGTAACTTTTAAA AAGTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	408	0.0025	104	c.181 others(121): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(97): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATACAGTAACTTTTAAA AGGTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	408	0.0025	104	c.181 others(121): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATACAGTAACTTTTAAAAGGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARP10_chr8_143972158_143991460	143981861	A A	AGGTGATG others(97): Show AGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGAT GGTGATGATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGTGATGGTG ATGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00673.hp2 others(81): Show HG00438.hp2 HG00621.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp2 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0012	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0008c0010 a0012c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0002c0002t0003 a0004c0004t0001 a0005c0005t0003 a0006c0006t0001 a0006c0006t0003 a0008c0010t0001 a0012c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0005g0036 a0001c0001t0006g0117 a0002c0002t0003g0009 a0004c0004t0001g0028 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0190 a0005c0005t0003g0008 a0005c0005t0003g0199 a0005c0005t0003g0200 a0006c0006t0001g0299 a0006c0006t0003g0298 a0006c0006t0003g0302 a0008c0010t0001g0043 a0008c0010t0001g0044 a0012c0016t0001g0042	84	380	0.2211	104	c.255 others(123): Show c.2556+1070_2556+1071insACCATCACCATCACAACAGTCACCAT CACCACCATCCCCACTCATCATCATCACCATCACCATGACCCTCACCACT CACTGTCATCACCACCATCACCATCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP9_chr3_122522924_122569300	122539507	A A	ATTTCTTT others(97): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0265 a0002c0001t0001g0265	1	436	0.0023	104	c.176 others(121): Show c.1765+964_1765+965insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PARVG_chr22_44175925_44213469	44198936	A A	ATCCATCC others(97): Show ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCAC CCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCC GTCCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	422	0.0024	104	c.813 others(119): Show c.813+218_813+219insTCCATCCATCCATCCATCCATCCATCCACC CACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCACCCACCCA CCCACCCGTCCGTCCGTCCGTCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198944	A A	ATCCATCC others(97): Show ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCAC CCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCC GTCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01169.hp1 others(2): Show HG00099.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0007 a0001c0001t0008g0118 a0001c0001t0008g0119	5	422	0.0119	104	c.813 others(119): Show c.813+222_813+223insTCCATCCATCCATCCATCCACCCACCCACC CACCCACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCACCCA CCCACCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PARVG_chr22_44175925_44213469	44198944	A A	ATCCATCC others(97): Show ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCAC CCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCC GTCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG03453.hp1 HG01496.hp1 HG02257.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0099 a0001c0001t0003g0200 a0001c0001t0012g0105 a0001c0001t0003g0099 a0001c0001t0003g0200 a0001c0001t0012g0105	3	422	0.0071	104	c.813 others(119): Show c.813+222_813+223insTCCATCCATCCATCCATCCATCCACCCACC CACCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCA CCCACCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PARVG_chr22_44175925_44213469	44198944	A A	ATCCATCC others(97): Show ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCAC CCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCC GTCCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	422	0.0024	104	c.813 others(119): Show c.813+222_813+223insTCCATCCATCCATCCATCCATCCATCCATC CACCCACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCACCCA CCCACCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PASK_chr2_241101099_241154472	241115957	C C	CAGGGCCA others(97): Show CAGGGCCACCCGGTCCCCAAGCATCCCGTTACACCAGGGGCCACCCAGTC CTCAAGCATCCCATTACGCCGGGGCCACCCGGTCCCCAAGCATCCCGTTA CGCCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01081.hp1 others(37): Show HG00558.hp2 HG00673.hp2 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp1 HG02738.hp1 HG04204.hp2 NA18944.hp1 NA18951.hp1 NA18960.hp1 NA18964.hp2 NA18970.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19087.hp2 NA19089.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0004c0018 a0004c0058 others(2): Show a0004c0004 a0004c0018 a0004c0058 a0005c0013 a0005c0021	a0004c0004t0001 a0004c0018t0002 a0004c0058t0002 others(3): Show a0004c0004t0001 a0004c0018t0002 a0004c0058t0002 a0005c0013t0001 a0005c0013t0002 a0005c0021t0002	a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0088 others(34): Show a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0088 a0004c0004t0001g0180 a0004c0004t0001g0187 a0004c0004t0001g0201 a0004c0004t0001g0203 a0004c0004t0001g0205 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0214 a0004c0004t0001g0215 a0004c0004t0001g0217 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0221 a0004c0018t0002g0047 a0004c0018t0002g0050 a0004c0018t0002g0058 a0004c0018t0002g0072 a0004c0018t0002g0074 a0004c0058t0002g0305 a0005c0013t0001g0131 a0005c0013t0001g0232 a0005c0013t0002g0089 a0005c0013t0002g0252 a0005c0013t0002g0253 a0005c0013t0002g0280 a0005c0013t0002g0285 a0005c0013t0002g0290 a0005c0013t0002g0317 a0005c0021t0002g0254 a0005c0021t0002g0282 a0005c0021t0002g0284	40	376	0.1064	104	c.307 others(121): Show c.3073-545_3073-544insTGGCGTAACGGGATGCTTGGGGACCGGG TGGCCCCGGCGTAATGGGATGCTTGAGGACTGGGTGGCCCCTGGTGTAAC GGGATGCTTGGGGACCGGGTGGCCCT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61871412	T T	TACATATA others(97): Show TACATATATATGTACATATATATGTGTATATATATATACATATATATGTA CATATATATGTGTATATATATATACATATATATGTACATATATATGTGTA TATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	158	0.0063	104	c.283 others(123): Show c.2836-3800_2836-3799insTATATACATATATATGTACATATATA TGTGTATATATATATACATATATATGTACATATATATGTGTATATACACA TATATATGTACATATATATGTGTATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(97): Show TATTCCTATTCCTATTCCTATTCCTATTCCTATTCCTATTCCTATTCCTA TTCCTATTCCTATTCCTATTCCTATTCCTATTCCTATTCCATTCCATTCC ATTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	256	0.0039	104	c.517 others(123): Show c.517-18675_517-18674insGGAATGGAATGGAATGGAATAGGAAT AGGAATAGGAATAGGAATAGGAATAGGAATAGGAATAGGAATAGGAATAG GAATAGGAATAGGAATAGGAATAGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21721514	T T	TATAGTGT others(97): Show TATAGTGTTACATATGTAACACATATATGTAATACATATATGTTATATAT GTAATACATATATGTAATACATATATGTTATATATGTAATACATATATGT AATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	104	c.69 others(115): Show c.6952_*6953insATAGTGTTACATATGTAACACATATATGTAATAC ATATATGTTATATATGTAATACATATATGTAATACATATATGTTATATAT GTAATACATATATGTAATAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3034		chr20	TogoVar
PAX8_chr2_113210997_113283921	113255305	G G	GGAGGGAG others(97): Show GGAGGGAGGGGAGGAGGGAGGGAGGAGGGAGGGGAGGAGGGAGGGGAGGA GGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGGACGAGGGAG GGGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	300	0.0033	104	c.26- others(119): Show c.26-8387_26-8386insGTCCCCTCCCTCGTCCCCTCCCTCCTCCCT CCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCT CCTCCCTCCCTCCTCCCCTCCCTC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45898286	C C	CCCCTCTG others(97): Show CCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCACGG CCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCAC AGCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0003g0263 a0001c0001t0004g0002	2	292	0.0069	104	c.166 others(121): Show c.166-1290_166-1289insCCTCCCTCTGCACACCGTCCTCACGGCC TCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCACAG CCTCCCTCTGCACACCGTCCTCACAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(97): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG01496.hp2 others(3): Show HG00099.hp2 HG01261.hp2 HG01496.hp2 HG01517.hp2 HG01981.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012	6	436	0.0138	104	c.-26 others(115): Show c.-2641_-2640insCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTAT CTATCGATAGATACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCLO_chr7_82749012_83167884	82806880	T T	TGGGCTTT others(97): Show TGGGCTTTACTGTCAACAGCTGTTTCTTACTGTCTTTGAGCTTAAATAGT CTTTGACAATGAATTTAACTCTATTCTCTTCTCAAGGTATCCCCACTCTT CTCAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	188	0.0053	104	c.147 others(125): Show c.14792-1155_14792-1052dupTTGAGAAGAGTGGGGATACCTTGA GAAGAGAATAGAGTTAAATTCATTGTCAAAGACTATTTAAGCTCAAAGAC AGTAAGAAACAGCTGTTGACAGTAAAGCCC	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82806959	T T	TCTCAAGG others(97): Show TCTCAAGGTATCCCCACTCTTCTCAAGGGCTTTACTGTCAACAGCTGTTT CTTACTGTCTTTGAGCTTAAATAGTCTTTGACAATGAATTTAACTCTATT CTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00597.hp2 others(82): Show HG00099.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0013 a0015 a0017 a0022 a0024 a0025 a0027 a0028 a0029 a0033 a0035 a0038 a0041 a0046 a0049 a0050 a0051 a0052 a0055 a0057 a0059 a0060 a0062 a0064 a0068 a0069 a0070 a0071	a0001c0003 a0001c0010 a0001c0016 others(49): Show a0001c0003 a0001c0010 a0001c0016 a0001c0018 a0001c0019 a0001c0053 a0001c0060 a0002c0004 a0002c0007 a0002c0062 a0002c0063 a0002c0064 a0003c0022 a0003c0090 a0003c0091 a0004c0002 a0005c0005 a0008c0024 a0009c0006 a0010c0011 a0010c0093 a0011c0027 a0011c0040 a0013c0082 a0015c0094 a0015c0095 a0017c0041 a0022c0069 a0024c0025 a0025c0012 a0027c0088 a0028c0089 a0029c0086 a0033c0048 a0035c0043 a0038c0046 a0041c0036 a0046c0077 a0049c0058 a0050c0054 a0051c0057 a0052c0056 a0055c0080 a0057c0055 a0059c0051 a0060c0074 a0062c0106 a0064c0108 a0068c0101 a0069c0104 a0070c0103 a0071c0100	a0001c0003t0019 a0001c0010t0003 a0001c0010t0004 others(57): Show a0001c0003t0019 a0001c0010t0003 a0001c0010t0004 a0001c0010t0007 a0001c0016t0010 a0001c0018t0003 a0001c0019t0003 a0001c0019t0034 a0001c0053t0003 a0001c0060t0033 a0002c0004t0004 a0002c0004t0007 a0002c0007t0001 a0002c0062t0001 a0002c0063t0001 a0002c0064t0009 a0003c0022t0003 a0003c0090t0036 a0003c0091t0001 a0004c0002t0001 a0004c0002t0027 a0004c0002t0031 a0005c0005t0001 a0005c0005t0028 a0008c0024t0003 a0009c0006t0010 a0009c0006t0023 a0010c0011t0001 a0010c0093t0007 a0011c0027t0001 a0011c0040t0001 a0013c0082t0022 a0015c0094t0009 a0015c0095t0001 a0017c0041t0024 a0022c0069t0005 a0024c0025t0009 a0025c0012t0001 a0027c0088t0001 a0028c0089t0001 a0029c0086t0001 a0033c0048t0005 a0035c0043t0004 a0038c0046t0010 a0041c0036t0001 a0046c0077t0003 a0049c0058t0001 a0050c0054t0001 a0051c0057t0001 a0052c0056t0003 a0055c0080t0001 a0057c0055t0001 a0059c0051t0003 a0060c0074t0003 a0062c0106t0001 a0064c0108t0001 a0068c0101t0001 a0069c0104t0009 a0070c0103t0009 a0071c0100t0001	a0001c0003t0019g0021 a0001c0010t0003g0139 a0001c0010t0004g0017 others(82): Show a0001c0003t0019g0021 a0001c0010t0003g0139 a0001c0010t0004g0017 a0001c0010t0007g0088 a0001c0016t0010g0143 a0001c0018t0003g0018 a0001c0019t0003g0132 a0001c0019t0034g0027 a0001c0053t0003g0131 a0001c0060t0033g0025 a0002c0004t0004g0145 a0002c0004t0007g0085 a0002c0004t0007g0097 a0002c0004t0007g0099 a0002c0004t0007g0108 a0002c0004t0007g0141 a0002c0007t0001g0020 a0002c0007t0001g0100 a0002c0007t0001g0135 a0002c0007t0001g0142 a0002c0062t0001g0090 a0002c0063t0001g0128 a0002c0064t0009g0031 a0003c0022t0003g0166 a0003c0090t0036g0173 a0003c0091t0001g0162 a0004c0002t0001g0016 a0004c0002t0001g0019 a0004c0002t0001g0083 a0004c0002t0001g0095 a0004c0002t0001g0096 a0004c0002t0001g0105 a0004c0002t0001g0106 a0004c0002t0027g0149 a0004c0002t0031g0014 a0005c0005t0001g0159 a0005c0005t0001g0168 a0005c0005t0001g0170 a0005c0005t0001g0172 a0005c0005t0001g0174 a0005c0005t0028g0153 a0008c0024t0003g0052 a0008c0024t0003g0053 a0009c0006t0010g0006 a0009c0006t0010g0007 a0009c0006t0010g0008 a0009c0006t0023g0005 a0010c0011t0001g0160 a0010c0011t0001g0163 a0010c0011t0001g0164 a0010c0093t0007g0171 a0011c0027t0001g0046 a0011c0027t0001g0048 a0011c0040t0001g0043 a0013c0082t0022g0002 a0015c0094t0009g0188 a0015c0095t0001g0187 a0017c0041t0024g0076 a0022c0069t0005g0022 a0024c0025t0009g0063 a0024c0025t0009g0064 a0025c0012t0001g0154 a0025c0012t0001g0155 a0027c0088t0001g0156 a0028c0089t0001g0169 a0029c0086t0001g0157 a0033c0048t0005g0074 a0035c0043t0004g0044 a0038c0046t0010g0039 a0041c0036t0001g0041 a0046c0077t0003g0012 a0049c0058t0001g0086 a0050c0054t0001g0129 a0051c0057t0001g0103 a0052c0056t0003g0101 a0055c0080t0001g0084 a0057c0055t0001g0151 a0059c0051t0003g0123 a0060c0074t0003g0121 a0062c0106t0001g0069 a0064c0108t0001g0070 a0068c0101t0001g0054 a0069c0104t0009g0071 a0070c0103t0009g0065 a0071c0100t0001g0062	85	188	0.4521	104	c.147 others(125): Show c.14792-1131_14792-1130insGAGAGAATAGAGTTAAATTCATTG TCAAAGACTATTTAAGCTCAAAGACAGTAAGAAACAGCTGTTGACAGTAA AGCCCTTGAGAAGAGTGGGGATACCTTGAG	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82806970	C C	CCCCACTC others(97): Show CCCCACTCTTCTCAAGGGCTTTACTGTCAACAGCTGTTTCTTACTGTCTT TGAGCTTAAATAGTCTTTGACAATGAATTTAACTCTATTCTCTCCTCAAG GTATT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0003 a0003c0022t0003	a0003c0022t0003g0167 a0003c0022t0003g0167	1	188	0.0053	104	c.147 others(125): Show c.14792-1142_14792-1141insAATACCTTGAGGAGAGAATAGAGT TAAATTCATTGTCAAAGACTATTTAAGCTCAAAGACAGTAAGAAACAGCT GTTGACAGTAAAGCCCTTGAGAAGAGTGGG	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82807203	G G	GTCAACAG others(97): Show GTCAACAGCTGTTTCTTACTGTCTTTGAGCTTAAATAGTCTTTGACAATG AATTTAACTCTATTCTCTTCTCAAGGTATCCCCACTCTTCTCAAGGGCTT TACTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02257.hp2 others(5): Show HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02809.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1	a0001 a0006 a0020 others(4): Show a0001 a0006 a0020 a0036 a0037 a0039 a0074	a0001c0016 a0001c0018 a0006c0044 others(5): Show a0001c0016 a0001c0018 a0006c0044 a0020c0111 a0036c0039 a0037c0038 a0039c0047 a0074c0030	a0001c0016t0011 a0001c0018t0011 a0006c0044t0016 others(5): Show a0001c0016t0011 a0001c0018t0011 a0006c0044t0016 a0020c0111t0030 a0036c0039t0008 a0037c0038t0016 a0039c0047t0011 a0074c0030t0011	a0001c0016t0011g0057 a0001c0018t0011g0183 a0006c0044t0016g0038 others(5): Show a0001c0016t0011g0057 a0001c0018t0011g0183 a0006c0044t0016g0038 a0020c0111t0030g0152 a0036c0039t0008g0079 a0037c0038t0016g0051 a0039c0047t0011g0036 a0074c0030t0011g0010	8	188	0.0426	104	c.147 others(125): Show c.14792-1375_14792-1374insGAGTAAAGCCCTTGAGAAGAGTGG GGATACCTTGAGAAGAGAATAGAGTTAAATTCATTGTCAAAGACTATTTA AGCTCAAAGACAGTAAGAAACAGCTGTTGA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149786272	C C	CCCCCCCA others(97): Show CCCCCCCACCTCCCTCCCGGACGGGACGGGGCGGCTGGCCGGGCGGGGGT GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA21309.hp1 HG01109.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	334	0.0060	104	c.193 others(121): Show c.193-3676_193-3675insACCTCCCTCCCGGACGGGACGGGGCGGC TGGCCGGGCGGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135928489	A A	ATATATAT others(97): Show ATATATATTTATATATATATATTTATATATATATATTTATATATATATAT TTATATATATATATTTATATATATATATTTATATATATATTTATATATAT ATATT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	142	0.0070	104	c.22- others(121): Show c.22-18968_22-18967insTTATATATATATATTTATATATATATAT TTATATATATATATTTATATATATATATTTATATATATATATTTATATAT ATATTTATATATATATATTTATATAT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE9A_chr21_42648621_42780509	42769691	C C	CACATGCA others(97): Show CACATGCACACCGGTACACACAGGCACACGTGCACACGTACACAGGCATA CAAATGCACACGCAGGCACACACAGGTACGTAGGCACACACAAGCACATA CACAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02735.hp1 HG01516.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0320 a0001c0002t0001g0042 a0001c0002t0001g0320	2	324	0.0062	104	c.159 others(121): Show c.1590+537_1590+538insCATGCACACCGGTACACACAGGCACACG TGCACACGTACACAGGCATACAAATGCACACGCAGGCACACACAGGTACG TAGGCACACACAAGCACATACACATA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDIA5_chr3_123062025_123167104	123152003	T T	TCCTGCCT others(97): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCT GCCTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	332	0.0030	104	c.127 others(123): Show c.1273+1642_1273+1643insGCCTGCCTTCCTTCCTGCCTGCCTTC CTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCT TCCTGCCTGCCTTTCTTCCTGCCTGCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123152080	C C	CCTGCCTT others(97): Show CCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCC TGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTG CCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0046 a0002c0008t0001g0046	1	332	0.0030	104	c.127 others(123): Show c.1273+1718_1273+1719insGCCTTCCTTCCTGCCTGCCTTTCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTTCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDXK_chr21_43714129_43767299	43741314	C C	CGGGGGGC others(97): Show CGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGC TCGCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0243 a0001c0001t0009g0243	1	358	0.0028	104	c.143 others(119): Show c.143-347_143-346insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCCCTCCCTCTCTCCCTCTCTCTCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02165.hp2 NA18943.hp1 others(3): Show HG02015.hp2 HG02165.hp2 NA18943.hp1 NA18945.hp2 NA18964.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0066	6	426	0.0141	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGAGAGGGAGAGAGGGA GGGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	426	0.0024	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCC CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	426	0.0024	104	c.48 others(115): Show c.4863_*4864insGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG03942.hp2 HG02293.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0002t0001g0007 a0001c0001t0001g0006 a0001c0002t0001g0007	2	426	0.0047	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCTCTCTCTCTCTCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGACAGAGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGGA GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 NA21309.hp2 HG01168.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0050 a0001c0001t0001g0001 a0001c0002t0001g0050	2	426	0.0047	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGACAGAGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGA GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGA GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PEBP1_chr12_118131124_118150584	118133224	T T	TTCATTTC others(97): Show TTCATTTCATTTCATTTCATTTCATTTCATTTCATTATTTCATTTCATTT CATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT ATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	426	0.0024	104	c.-29 others(115): Show c.-2986_-2985insTCATTTCATTTCATTTCATTTCATTTCATTTCAT TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTATTTC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2899		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22728555	T T	TCTTCCTT others(97): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0141 a0004c0004t0003g0141	1	278	0.0036	104	c.358 others(121): Show c.358-1336_358-1335insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEX5_chr12_7184686_7216459	7197440	T T	TAATTATA others(97): Show TAATTATATATATGTCATATACAATGTAATTATATATGTCATATACAATG TAATTATGTTATATATAATGTAATAATTATATATGTTATATATAATGTAA TTATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02735.hp1 NA20752.hp2 HG00735.hp2 HG02735.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0020 a0002c0002t0005g0020	3	428	0.0070	104	c.449 others(121): Show c.449-1571_449-1570insAATTATATATATGTCATATACAATGTAA TTATATATGTCATATACAATGTAATTATGTTATATATAATGTAATAATTA TATATGTTATATATAATGTAATTATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PFKP_chr10_3062548_3141802	3106698	C C	CTCACCCC others(97): Show CTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTG CCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTG CCGCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0041 a0001c0012t0002g0041	1	402	0.0025	104	c.775 others(119): Show c.775-502_775-501insGCCCCTTCACCCCTGCCCCTGCCCCTTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGC CCCTGCCGCTTCACCCCTGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106734	C C	CCTTCACC others(97): Show CCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCC TGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCC TGCCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0304 a0001c0029t0001g0304	1	402	0.0025	104	c.775 others(119): Show c.775-464_775-463insGCCCCTTCACCCCTGCCCCTGCCCCTTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGC CCCTGCCGCTTCACCCCTGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGS1_chr17_78373649_78429659	78397289	A A	ACAGACGG others(97): Show ACAGACGGGCCCATTGCCCAGAGTTAGTGCCGTTTCTTGGTCTGTCCTTG TTCAGAGTTACTGGTGGGAGCTATAGGGATTGGAGTGTGGAGAGGGAGGT GCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(77): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG02027.hp2 HG02040.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03490.hp1 HG03579.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0012 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0007t0006 a0001c0008t0001 a0001c0012t0008 a0003c0005t0001 a0004c0009t0014	a0001c0001t0001g0152 a0001c0002t0001g0001 a0001c0002t0001g0007 others(73): Show a0001c0001t0001g0152 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0232 a0001c0002t0001g0291 a0001c0002t0002g0073 a0001c0002t0002g0112 a0001c0002t0004g0124 a0001c0002t0004g0138 a0001c0002t0005g0075 a0001c0002t0005g0082 a0001c0002t0013g0001 a0001c0007t0006g0170 a0001c0008t0001g0008 a0001c0012t0008g0188 a0003c0005t0001g0129 a0003c0005t0001g0135 a0003c0005t0001g0137 a0004c0009t0014g0145	80	398	0.2010	104	c.411 others(119): Show c.411+905_412-859dupCAGACGGGCCCATTGCCCAGAGTTAGTGCC GTTTCTTGGTCTGTCCTTGTTCAGAGTTACTGGTGGGAGCTATAGGGATT GGAGTGTGGAGAGGGAGGTGCAGT	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
PGS1_chr17_78373649_78429659	78397291	A A	GGACGGGC others(97): Show GGACGGGCCCATTGCCCAGAGTTAGTGCCGTTTCTTGGTCTGTCCTTGTT CAGAGTTACTGGTGGGAGCTATAGGGATTGGAGTGTGGAGAGGGAGGTGC AGTCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0173 a0001c0002t0004g0173	1	398	0.0025	104	c.411 others(119): Show c.411+905_411+906insGGACGGGCCCATTGCCCAGAGTTAGTGCCG TTTCTTGGTCTGTCCTTGTTCAGAGTTACTGGTGGGAGCTATAGGGATTG GAGTGTGGAGAGGGAGGTGCAGTC	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	3/9			chr17	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(97): Show CATATATATATACATATATATACATATATATACATATATATATATATATA TACATATATATATACATATATATACATATATATACATATATATATATATA TACAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01981.hp2 HG01099.hp2 HG01256.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101	3	346	0.0087	104	c.173 others(123): Show c.1731-3160_1731-3159insTACATATATATACATATATATACATA TATATATATATATATACATATATATATACATATATATACATATATATACA TATATATATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10716651	C C	CCGCCCCT others(97): Show CCGCCCCTCCTCACATCCTTTATAAAATCTCAAGCAAGGTATGTATTTCT CACAATCATTCAGATAGAGCCTCTAGCTGCTCTGTGTAGACATAAAGGGG AAGCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0003 a0006c0004t0003	a0006c0004t0003g0149 a0006c0004t0003g0149	1	158	0.0063	104	c.509 others(121): Show c.5090-939_5090-836dupAGCTTCCCCTTTATGTCTACACAGAGCA GCTAGAGGCTCTATCTGAATGATTGTGAGAAATACATACCTTGCTTGAGA TTTTATAAAGGATGTGAGGAGGGGCG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	37/55			chr18	TogoVar
PIGQ_chr16_564968_589109	565736	A A	AGGAGAGC others(97): Show AGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGG GGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCG GGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0322 a0001c0002t0006g0322	1	408	0.0025	104	c.-43 others(115): Show c.-4370_-4369insGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTG TCTTGGTGTGTCGGGGGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTG TGTCTTGGTGTGTCGGGGGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		4231		chr16	TogoVar
PIGQ_chr16_564968_589109	584944	A A	ACCTCCCG others(97): Show ACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCT GTACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAAC CTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(143): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0013 others(2): Show a0002 a0006 a0013 a0015 a0016	a0002c0001 a0002c0006 a0002c0007 others(6): Show a0002c0001 a0002c0006 a0002c0007 a0002c0010 a0002c0016 a0006c0009 a0013c0012 a0015c0015 a0016c0014	a0002c0001t0001 a0002c0001t0005 a0002c0001t0011 others(14): Show a0002c0001t0001 a0002c0001t0005 a0002c0001t0011 a0002c0001t0018 a0002c0001t0019 a0002c0001t0020 a0002c0001t0021 a0002c0001t0022 a0002c0001t0023 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0016t0001 a0006c0009t0010 a0013c0012t0001 a0015c0015t0001 a0016c0014t0001	a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0019 others(135): Show a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0022 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0109 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0115 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0121 a0002c0001t0001g0123 a0002c0001t0001g0125 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0132 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0149 a0002c0001t0001g0155 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0173 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0185 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0196 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0205 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0216 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0243 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0319 a0002c0001t0005g0018 a0002c0001t0005g0021 a0002c0001t0005g0102 a0002c0001t0005g0116 a0002c0001t0005g0120 a0002c0001t0005g0131 a0002c0001t0005g0134 a0002c0001t0005g0148 a0002c0001t0005g0150 a0002c0001t0005g0151 a0002c0001t0005g0160 a0002c0001t0005g0161 a0002c0001t0005g0178 a0002c0001t0005g0197 a0002c0001t0005g0201 a0002c0001t0005g0226 a0002c0001t0011g0144 a0002c0001t0011g0207 a0002c0001t0018g0174 a0002c0001t0019g0245 a0002c0001t0020g0227 a0002c0001t0021g0089 a0002c0001t0022g0142 a0002c0001t0023g0093 a0002c0006t0001g0206 a0002c0007t0001g0101 a0002c0007t0001g0177 a0002c0007t0001g0186 a0002c0010t0001g0108 a0002c0010t0001g0170 a0002c0016t0001g0153 a0006c0009t0010g0133 a0006c0009t0010g0221 a0013c0012t0001g0039 a0015c0015t0001g0159 a0016c0014t0001g0172	146	408	0.3578	104	c.19 others(115): Show c.1909_*1910insCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACACCCCCAACCTGTACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCC ACCAACACCCCCAACCTGTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		836		chr16	TogoVar
PIGQ_chr16_564968_589109	584944	A A	ACCTCCCG others(97): Show ACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCT GTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAAC CTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0146 a0002c0001t0001g0146	1	408	0.0025	104	c.19 others(115): Show c.1909_*1910insCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCC ACCAACACCCCCAACCTGTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		836		chr16	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(97): Show AGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAA AGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	340	0.0029	104	c.-32 others(115): Show c.-3277_-3276insGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAAGGAGGGAAAGGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(97): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0110 a0003c0003t0002g0110	1	346	0.0029	104	c.200 others(123): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(97): Show CTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCT TTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	330	0.0030	104	c.-33 others(115): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(97): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCT TTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 NA19000.hp1 HG01346.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0069 a0001c0002t0008g0105 a0001c0001t0001g0069 a0001c0002t0008g0105	2	330	0.0061	104	c.-33 others(115): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(97): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTT TTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0016 a0001c0039t0016	a0001c0039t0016g0007 a0001c0039t0016g0007	1	330	0.0030	104	c.-33 others(115): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTTCTTTTTTTCTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar

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