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
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	408	0.0025	25	c.-95 others(34): Show c.-956_-955insATATATATATATATATATATATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	406	0.0025	25	c.-11 others(44): Show c.-111-2749_-111-2725dupTTTTTTTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	G G	GAAAATAA others(18): Show GAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG01070.hp2 others(73): Show HG00609.hp2 HG00733.hp2 HG01070.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp2 HG01358.hp1 HG01928.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG03017.hp2 HG03139.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19059.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0005c0018	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0004c0005t0001 a0005c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0050 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0133 a0002c0003t0001g0166 a0004c0005t0001g0001 a0004c0005t0001g0012 a0004c0005t0001g0026 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0146 a0004c0005t0001g0148 a0005c0018t0001g0116	76	420	0.1810	25	c.815 others(40): Show c.815-771_815-747dupTAAAATAAAATAAAATAAAATAAAA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02080.hp2 HG02135.hp1 others(7): Show HG00673.hp1 HG02080.hp2 HG02135.hp1 HG02683.hp1 HG03831.hp2 HG04184.hp2 NA18973.hp1 NA18998.hp2 NA19058.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0002t0033 a0001c0007t0003 a0001c0002t0003 a0001c0002t0033 a0001c0007t0003	a0001c0002t0003g0002 a0001c0002t0033g0041 a0001c0007t0003g0023 a0001c0002t0003g0002 a0001c0002t0033g0041 a0001c0007t0003g0023	10	454	0.0220	25	c.-39 others(36): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330362	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02145.hp2 HG00733.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0001g0196 a0001c0001t0001g0222	2	424	0.0047	25	c.126 others(42): Show c.126+1093_126+1117dupATTTTATTTTATTTTATTTTATTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(18): Show ATTTTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	424	0.0024	25	c.126 others(42): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282081	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0361 a0003c0004t0001g0361	1	386	0.0026	25	c.206 others(42): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0242 a0004c0007t0004g0242	1	386	0.0026	25	c.206 others(42): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137478387	A A	AAGAGAGT others(18): Show AAGAGAGTGGGCCCGGGTGGGGGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02897.hp1 others(3): Show HG02630.hp2 HG02647.hp1 HG02897.hp1 HG03209.hp1 HG03540.hp1 HG03540.hp2	a0004 a0022 a0004 a0022	a0004c0007 a0004c0054 a0022c0053 a0004c0007 a0004c0054 a0022c0053	a0004c0007t0002 a0004c0054t0002 a0022c0053t0001 a0004c0007t0002 a0004c0054t0002 a0022c0053t0001	a0004c0007t0002g0018 a0004c0007t0002g0019 a0004c0007t0002g0181 others(3): Show a0004c0007t0002g0018 a0004c0007t0002g0019 a0004c0007t0002g0181 a0004c0007t0002g0182 a0004c0054t0002g0132 a0022c0053t0001g0154	6	188	0.0319	25	c.276 others(42): Show c.2764-260_2764-236dupGGCCCCCCACCCGGGCCCACTCTCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	24/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503789	A A	AAAAGAAG others(18): Show AAAAGAAGAGAGAAGAAGAAAGAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01243.hp2 others(6): Show HG00642.hp2 HG01071.hp2 HG01243.hp2 HG01496.hp1 HG02717.hp1 HG02723.hp1 HG03579.hp1 NA18943.hp2 NA18952.hp2	a0001 a0011 a0016 others(2): Show a0001 a0011 a0016 a0031 a0036	a0001c0001 a0001c0002 a0011c0011 others(3): Show a0001c0001 a0001c0002 a0011c0011 a0016c0017 a0031c0044 a0036c0060	a0001c0001t0001 a0001c0002t0001 a0011c0011t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0011c0011t0001 a0016c0017t0004 a0031c0044t0001 a0036c0060t0001	a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0002t0001g0043 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0111 a0011c0011t0001g0054 a0016c0017t0004g0053 a0031c0044t0001g0034 a0036c0060t0001g0092	9	188	0.0479	25	c.147 others(44): Show c.1473+1824_1473+1825insATTTCTTTCTTCTTCTCTCTTCTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503789	A A	AAAAGAAG others(18): Show AAAAGAAGAGAGAAGAAGAAAGAACT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0183 a0001c0037t0001g0183	1	188	0.0053	25	c.147 others(44): Show c.1473+1824_1473+1825insAGTTCTTTCTTCTTCTCTCTTCTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518500	G G	GTCCACTC others(18): Show GTCCACTCCATCCCCCACTCACTGAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0030 a0030	a0030c0059 a0030c0059	a0030c0059t0001 a0030c0059t0001	a0030c0059t0001g0075 a0030c0059t0001g0075	1	188	0.0053	25	c.108 others(44): Show c.1084+1416_1084+1417insGTCAGTGAGTGGGGGATGGAGTGGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518535	T T	TCACTCCA others(18): Show TCACTCCATCCCCCACTCACTGACTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02683.hp1 HG03017.hp2 others(2): Show HG01261.hp1 HG02683.hp1 HG03017.hp2 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0039 a0001c0002 a0001c0012 a0001c0039	a0001c0002t0001 a0001c0012t0001 a0001c0039t0001 a0001c0002t0001 a0001c0012t0001 a0001c0039t0001	a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0012t0001g0008 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0012t0001g0008 a0001c0012t0001g0037 a0001c0039t0001g0007	5	188	0.0266	25	c.108 others(44): Show c.1084+1381_1084+1382insGAGTCAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG03209.hp2 HG01891.hp1 HG02258.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0016 a0001c0001t0008 a0003c0003t0016	a0001c0001t0008g0194 a0003c0003t0016g0070 a0003c0003t0016g0071 a0001c0001t0008g0194 a0003c0003t0016g0070 a0003c0003t0016g0071	3	390	0.0077	25	c.-14 others(36): Show c.-1456_-1455insTTTTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
POC1B_chr12_89414718_89531047	89506622	G G	GCCCCCCC others(18): Show GCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	370	0.0027	25	c.101 others(42): Show c.101-9281_101-9280insGGGGGGGGGGGGGGGGGGGGGGGGG	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	2/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0002 a0020c0052t0002	a0020c0052t0002g0200 a0020c0052t0002g0200	1	440	0.0023	25	c.101 others(44): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131534047	G G	GGCACTCC others(18): Show GGCACTCCACTCTCCCGCCCTGCACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01074.hp2 others(47): Show HG00408.hp1 HG00423.hp1 HG01074.hp2 HG01934.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02155.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18522.hp2 NA18747.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19084.hp2 NA20905.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0007 a0008 a0010 a0016 a0023 a0024	a0001c0001 a0003c0002 a0004c0004 others(10): Show a0001c0001 a0003c0002 a0004c0004 a0007c0008 a0007c0016 a0008c0009 a0008c0017 a0010c0013 a0010c0044 a0010c0057 a0016c0035 a0023c0046 a0024c0045	a0001c0001t0001 a0001c0001t0003 a0003c0002t0003 others(14): Show a0001c0001t0001 a0001c0001t0003 a0003c0002t0003 a0004c0004t0003 a0007c0008t0004 a0007c0008t0036 a0007c0016t0001 a0008c0009t0002 a0008c0009t0004 a0008c0009t0018 a0008c0017t0001 a0010c0013t0004 a0010c0044t0004 a0010c0057t0001 a0016c0035t0009 a0023c0046t0002 a0024c0045t0001	a0001c0001t0001g0067 a0001c0001t0003g0163 a0003c0002t0003g0236 others(47): Show a0001c0001t0001g0067 a0001c0001t0003g0163 a0003c0002t0003g0236 a0003c0002t0003g0253 a0004c0004t0003g0358 a0007c0008t0004g0197 a0007c0008t0004g0219 a0007c0008t0004g0220 a0007c0008t0004g0262 a0007c0008t0004g0263 a0007c0008t0004g0266 a0007c0008t0004g0268 a0007c0008t0004g0272 a0007c0008t0004g0275 a0007c0008t0004g0276 a0007c0008t0004g0285 a0007c0008t0004g0317 a0007c0008t0004g0318 a0007c0008t0036g0240 a0007c0016t0001g0252 a0007c0016t0001g0267 a0007c0016t0001g0278 a0007c0016t0001g0300 a0007c0016t0001g0301 a0007c0016t0001g0302 a0008c0009t0002g0148 a0008c0009t0004g0056 a0008c0009t0004g0057 a0008c0009t0004g0091 a0008c0009t0004g0108 a0008c0009t0004g0168 a0008c0009t0004g0180 a0008c0009t0018g0115 a0008c0017t0001g0066 a0008c0017t0001g0068 a0008c0017t0001g0069 a0008c0017t0001g0070 a0008c0017t0001g0071 a0010c0013t0004g0331 a0010c0013t0004g0337 a0010c0013t0004g0349 a0010c0013t0004g0360 a0010c0013t0004g0376 a0010c0013t0004g0377 a0010c0013t0004g0379 a0010c0044t0004g0041 a0010c0057t0001g0359 a0016c0035t0009g0325 a0023c0046t0002g0314 a0024c0045t0001g0169	50	440	0.1136	25	c.100 others(44): Show c.100+22212_100+22213insGGTGCAGGGCGGGAGAGTGGAGTGC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA20129.hp2 NA20300.hp1 HG03516.hp2 NA20129.hp2 NA20300.hp1	a0005 a0005	a0005c0019 a0005c0029 a0005c0019 a0005c0029	a0005c0019t0001 a0005c0019t0003 a0005c0029t0001 a0005c0019t0001 a0005c0019t0003 a0005c0029t0001	a0005c0019t0001g0054 a0005c0019t0003g0049 a0005c0029t0001g0046 a0005c0019t0001g0054 a0005c0019t0003g0049 a0005c0029t0001g0046	3	440	0.0068	25	c.-21 others(36): Show c.-2120_-2119insAAAAAAATATATATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(18): Show ATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0184 a0003c0005t0001g0184	1	227	0.0044	25	c.358 others(40): Show c.358-938_358-937insGTGTGTGTGTATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(18): Show ATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	227	0.0044	25	c.358 others(40): Show c.358-938_358-937insGTGTGTATATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POLA1_chrX_24688918_25001986	24971931	G G	GATTTTAT others(18): Show GATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03041.hp1 HG03195.hp1 others(6): Show HG02083.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0059 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0101	9	197	0.0457	25	c.426 others(46): Show c.4262-23842_4262-23818dupTTTTATTTTATTTTATTTTATTTT A	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	36/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD1_chr19_50379347_50423014	50419171	C C	CCAGTTCC others(18): Show CCAGTTCCTATCTTTCCTGGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	336	0.0030	25	c.12 others(36): Show c.1224_*1225insCAGTTCCTATCTTTCCTGGTCCCCA	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding		1158		chr19	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0057 a0001c0002t0004g0057	1	400	0.0025	25	c.220 others(42): Show c.220-2126_220-2125insATATATATATATATATATATATATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp1 others(37): Show HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00639.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01516.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02486.hp2 HG02683.hp2 HG02723.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03195.hp2 HG03490.hp2 HG03491.hp2 HG04204.hp1 NA18747.hp2 NA18948.hp1 NA18951.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18992.hp2 NA19070.hp1 NA19086.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0016 a0002c0004t0001	a0001c0001t0002g0040 a0001c0002t0001g0003 a0001c0002t0001g0010 others(13): Show a0001c0001t0002g0040 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0050 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0133 a0001c0002t0003g0082 a0001c0002t0010g0132 a0001c0002t0016g0079 a0002c0004t0001g0185	40	340	0.1177	25	c.438 others(40): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLE_chr12_132618762_132692342	132658881	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0255 a0002c0004t0001g0255	1	292	0.0034	25	c.327 others(42): Show c.3275+389_3275+413dupTTTTTTTTTTTTTTTTTTTTTTTTT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	26/48			chr12	TogoVar
POLN_chr4_2066918_2247121	2185528	T T	TTGAGGTC others(18): Show TTGAGGTCAGGAGTTCGAGACCAGCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	194	0.0052	25	c.102 others(44): Show c.1022-6088_1022-6064dupGGCTGGTCTCGAACTCCTGACCTCA	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	7/25			chr4	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03453.hp1 HG00733.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0131 a0003c0002t0001g0298 a0001c0001t0001g0131 a0003c0002t0001g0298	2	318	0.0063	25	c.110 others(42): Show c.1109-160_1109-136dupAAAAAAAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	358	0.0028	25	c.73+ others(40): Show c.73+1737_73+1738insTTTTTTTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR2E_chr19_1081574_1100375	1096831	A A	AGGAGAAT others(18): Show AGGAGAATCACGGAGGCTGGAGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0087 a0002c0006t0003g0087	1	442	0.0023	25	c.-15 others(36): Show c.-1517_-1516insCTGCCTCCAGCCTCCGTGATTCTCC	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		1457		chr19	TogoVar
POLR3B_chr12_106352748_106515198	106479796	C C	CTTCTTTT others(18): Show CTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(29): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01943.hp2 HG01952.hp1 HG02273.hp2 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 NA18944.hp1 NA19056.hp2 NA19057.hp2 NA19081.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0007 a0005c0016 a0001c0001 a0004c0007 a0005c0016	a0001c0001t0001 a0001c0001t0003 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0004c0007t0001 a0005c0016t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0169 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0003g0005 a0001c0001t0003g0006 a0004c0007t0001g0076 a0005c0016t0001g0027	32	304	0.1053	25	c.271 others(46): Show c.2713+16185_2713+16209dupTTTTCTTTTCTTTTCTTTTCTTTT C	POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
POMZP3_chr7_76604986_76632279	76615973	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0003 a0000c0004t0003	a0000c0004t0003g0186 a0000c0004t0003g0186	1	423	0.0024	25	c.345 others(42): Show c.345+2209_345+2210insTTTTTTTTTTTTTTTTTTTTTTTTT	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6			chr7	TogoVar
POMZP3_chr7_76604986_76632279	76620861	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18972.hp1 HG02083.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0066 a0001c0001t0005g0060 a0001c0001t0005g0066	2	423	0.0047	25	c.228 others(42): Show c.228-2586_228-2562dupAAAAAAAAAAAAAAAAAAAAAAAAA	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6			chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19009.hp2 NA18943.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0221 a0001c0001t0002g0183 a0001c0001t0002g0221	2	434	0.0046	25	c.909 others(39): Show c.909+84_909+108dupTTTTTTTTTTTTTTTTTTTTTTTTT	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8			chr7	TogoVar
POP1_chr8_98112293_98164835	98161209	C C	CTAAGTGT others(18): Show CTAAGTGTAGCATTGCCGTCTTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0251 a0001c0004t0006g0251	1	422	0.0024	25	c.29 others(36): Show c.2938_*2939insTAAGTGTAGCATTGCCGTCTTGGTG	POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding		1375		chr8	TogoVar
POR_chr7_75910155_75991855	75988764	A A	AAGAAGGC others(18): Show AAGAAGGCCGGGTAGGGGGGTGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0258 a0002c0001t0002g0258	1	278	0.0036	25	c.22 others(36): Show c.2283_*2284insAGAAGGCCGGGTAGGGGGGTGGAGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1910		chr7	TogoVar
POR_chr7_75910155_75991855	75988764	A A	AAGAAGGC others(18): Show AAGAAGGCCGGGTGGGGGGGTGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0012 a0002c0001 a0004c0012	a0002c0001t0002 a0004c0012t0001 a0002c0001t0002 a0004c0012t0001	a0002c0001t0002g0021 a0004c0012t0001g0211 a0002c0001t0002g0021 a0004c0012t0001g0211	2	278	0.0072	25	c.22 others(36): Show c.2283_*2284insAGAAGGCCGGGTGGGGGGGTGGAGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1910		chr7	TogoVar
POR_chr7_75910155_75991855	75988783	C C	CTGGAGGA others(18): Show CTGGAGGAGAAGGCCGGGTGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02559.hp1 HG03195.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0048 a0001c0003t0001g0049 others(1): Show a0001c0003t0001g0022 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0275	4	278	0.0144	25	c.23 others(36): Show c.2302_*2303insTGGAGGAGAAGGCCGGGTGGGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1929		chr7	TogoVar
POR_chr7_75910155_75991855	75988872	C C	CGGGAGGG others(18): Show CGGGAGGGGGTGTGGAGGGGAAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0012 a0001c0013t0001g0013 a0001c0013t0001g0012 a0001c0013t0001g0013	2	278	0.0072	25	c.23 others(36): Show c.2391_*2392insGGGAGGGGGTGTGGAGGGGAAGGCG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2018		chr7	TogoVar
POR_chr7_75910155_75991855	75988901	T T	TGGGGGGG others(18): Show TGGGGGGGTGGAGGGGAAGGCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0189 a0001c0005t0001g0197 a0001c0005t0001g0189 a0001c0005t0001g0197	2	278	0.0072	25	c.24 others(36): Show c.2420_*2421insGGGGGGGTGGAGGGGAAGGCGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2047		chr7	TogoVar
POR_chr7_75910155_75991855	75988986	G G	GGTGGAGG others(18): Show GGTGGAGGGGAAGGCCGGGTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03017.hp1 HG03834.hp1 HG02257.hp1 HG03017.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0212 a0002c0001t0002g0226 a0002c0001t0002g0277 a0002c0001t0002g0212 a0002c0001t0002g0226 a0002c0001t0002g0277	3	278	0.0108	25	c.25 others(36): Show c.2505_*2506insGTGGAGGGGAAGGCCGGGTGGGTGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2132		chr7	TogoVar
POR_chr7_75910155_75991855	75989102	A A	AGGGGTGG others(18): Show AGGGGTGGAGGTTGAGGGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0268 a0002c0001t0002g0268	1	278	0.0036	25	c.26 others(36): Show c.2621_*2622insGGGGTGGAGGTTGAGGGGGGGGAGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2248		chr7	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02135.hp2 HG02976.hp1 others(2): Show HG01993.hp2 HG02135.hp2 HG02976.hp1 NA18978.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0298 a0001c0001t0001g0306 others(2): Show a0001c0001t0001g0266 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0001g0325 a0001c0001t0001g0328	5	346	0.0145	25	c.62 others(36): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAAAAAA	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding		4696		chr7	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 homoSapiens_chm13v2.hp1 HG04199.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0002 a0002c0002t0002 a0004c0005t0002	a0002c0002t0002g0069 a0004c0005t0002g0108 a0002c0002t0002g0069 a0004c0005t0002g0108	2	416	0.0048	25	c.141 others(44): Show c.1410-2510_1410-2509insATATATATATATATATATATATATT	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13637005	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG00735.hp2 HG02486.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0002 a0002c0002t0002 a0004c0005t0002	a0002c0002t0002g0101 a0004c0005t0002g0105 a0002c0002t0002g0101 a0004c0005t0002g0105	2	416	0.0048	25	c.141 others(44): Show c.1410-2510_1410-2509insATATATATATATATATATATATATA	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10			chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp2 NA18975.hp1 others(6): Show HG00408.hp1 HG00597.hp2 NA18975.hp1 NA19001.hp1 NA19060.hp2 NA19067.hp2 NA19074.hp2 NA19082.hp1 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0033 a0001c0003t0003 a0001c0003t0033	a0001c0003t0003g0001 a0001c0003t0003g0032 a0001c0003t0003g0033 others(4): Show a0001c0003t0003g0001 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0044 a0001c0003t0003g0207 a0001c0003t0003g0208 a0001c0003t0033g0001	9	416	0.0216	25	c.47 others(36): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTEF_chr2_130068535_130134222	130113226	A A	ATAAAAAA others(18): Show ATAAAAAAAAATAAAAAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp1 HG02015.hp2 HG02056.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0027c0022 a0002c0002 a0027c0022	a0002c0002t0001 a0027c0022t0001 a0002c0002t0001 a0027c0022t0001	a0002c0002t0001g0108 a0027c0022t0001g0136 a0002c0002t0001g0108 a0027c0022t0001g0136	2	165	0.0121	25	c.811 others(42): Show c.811-1126_811-1125insATTTTATTTTTTTTATTTTTTTTTA	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding	5/16			chr2	TogoVar
POTEM_chr14_18962434_19008752	18966743	C C	CGCACGCC others(18): Show CGCACGCCGCACGCGCACGCCGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03834.hp1 NA19007.hp2 HG01346.hp1 HG03834.hp1 NA19007.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0028 a0005c0005t0005 a0001c0001t0001 a0001c0001t0028 a0005c0005t0005	a0001c0001t0001g0044 a0001c0001t0028g0027 a0005c0005t0005g0054 a0001c0001t0001g0044 a0001c0001t0028g0027 a0005c0005t0005g0054	3	67	0.0448	25	c.-74 others(34): Show c.-743_-742insGCACGCCGCACGCGCACGCCGCACG	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		690		chr14	TogoVar
POU6F2_chr7_38972909_39473601	39005515	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0036 a0001c0002t0014g0036	1	170	0.0059	25	c.105 others(44): Show c.105+27457_105+27458insGTGTGTGTGTGTGTGTGTGTGTGTG	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9			chr7	TogoVar
POU6F2_chr7_38972909_39473601	39191465	T T	TTACTGAA others(18): Show TTACTGAAAACCTGTAAATTTAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	170	0.0059	25	c.278 others(44): Show c.278-12769_278-12768insACTGAAAACCTGTAAATTTAAGAAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA1_chr10_70197835_70238429	70206865	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG02257.hp2 others(6): Show HG01070.hp1 HG01081.hp1 HG02257.hp2 HG02622.hp2 HG03098.hp1 HG03516.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0002c0004t0001 a0001c0001t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0007g0345 a0002c0004t0001g0231	9	408	0.0221	25	c.726 others(40): Show c.726-557_726-533dupCCTCCCCTCCCCTCCCCTCCCCTCC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar

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