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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
POGK_chr1_166834475_166861359	166856560	A A	ACAGATCC others(2): Show ACAGATCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(65): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01516.hp2 HG01928.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0023 a0001c0002t0024	a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0003g0020 others(9): Show a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0003g0020 a0001c0002t0003g0029 a0001c0002t0003g0034 a0001c0002t0003g0058 a0001c0002t0003g0061 a0001c0002t0005g0001 a0001c0002t0005g0060 a0001c0002t0010g0001 a0001c0002t0023g0034 a0001c0002t0024g0001	68	408	0.1667	9	c.39 others(20): Show c.3990_*3991insCAGATCCAG		POGK	ENSG00000143157.12	transcript	ENST00000367876.9	protein_coding					202		chr1	TogoVar
POGLUT1_chr3_119463963_119499708	119467607	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02572.hp1 others(3): Show HG01884.hp2 HG02258.hp1 HG02572.hp1 HG02895.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0034 a0001c0001t0050 a0001c0001t0016 a0001c0001t0034 a0001c0001t0050	a0001c0001t0016g0029 a0001c0001t0016g0089 a0001c0001t0034g0049 others(2): Show a0001c0001t0016g0029 a0001c0001t0016g0089 a0001c0001t0034g0049 a0001c0001t0034g0130 a0001c0001t0050g0049	6	422	0.0142	9	c.-14 others(20): Show c.-1415_-1414insAAAAAAAAA		POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding					1355		chr3	TogoVar
POGLUT2_chr13_102779281_102803976	102797565	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(37): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01243.hp2 HG01975.hp1 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02922.hp2 HG02970.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA20129.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0003 a0005c0008 a0006c0005 a0002c0003 a0005c0008 a0006c0005	a0002c0003t0002 a0002c0003t0004 a0005c0008t0002 others(1): Show a0002c0003t0002 a0002c0003t0004 a0005c0008t0002 a0006c0005t0002	a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 others(21): Show a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0004g0021 a0002c0003t0004g0022 a0002c0003t0004g0054 a0002c0003t0004g0055 a0002c0003t0004g0056 a0002c0003t0004g0057 a0002c0003t0004g0058 a0005c0008t0002g0067 a0006c0005t0002g0061	40	436	0.0917	9	c.183 others(24): Show c.183-565_183-557dupATTATTATT		POGLUT2	ENSG00000134901.14	transcript	ENST00000376004.5	protein_coding	1/9						chr13	TogoVar
POGLUT3_chr11_108467116_108503384	108498956	T T	TTTATTAT others(2): Show TTTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02165.hp1 others(4): Show HG02040.hp1 HG02040.hp2 HG02165.hp1 HG02523.hp2 HG03195.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0002g0020 a0001c0001t0003g0012	7	344	0.0204	9	c.-59 others(18): Show c.-591_-590insTAATAATAA		POGLUT3	ENSG00000178202.14	transcript	ENST00000323468.10	protein_coding					573		chr11	TogoVar
POGZ_chr1_151397724_151464494	151398423	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01346.hp1 others(11): Show HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01358.hp2 HG02622.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18970.hp1 NA19070.hp1 NA19085.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0001c0001t0013 a0007c0014t0001 a0001c0001t0001 a0001c0001t0013 a0007c0014t0001	a0001c0001t0001g0179 a0001c0001t0001g0232 a0001c0001t0001g0234 others(11): Show a0001c0001t0001g0179 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0308 a0001c0001t0013g0077 a0007c0014t0001g0220	14	320	0.0438	9	c.63 others(20): Show c.6378_*6379insAAAAAAAAA		POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding					4300		chr1	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	197	0.0051	9	c.296 others(28): Show c.2964+8457_2964+8465dupTTTTTTTTT		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801924	G G	GTGTGTGT others(2): Show GTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	197	0.0051	9	c.296 others(28): Show c.2965-7974_2965-7973insTGTGTGTGT		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36						chrX	TogoVar
POLA1_chrX_24688918_25001986	24803930	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG03540.hp1 HG02257.hp2 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015	3	197	0.0152	9	c.296 others(28): Show c.2965-5945_2965-5937dupAAAAAAAAA		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24947246	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	197	0.0051	9	c.426 others(30): Show c.4261+16728_4261+16736dupTTTTTTTTT		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	36/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAAAAAAT others(2): Show AAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp2 HG01934.hp1 others(11): Show HG01071.hp1 HG01109.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02148.hp1 HG02273.hp1 HG02572.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG03516.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(11): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0268 a0001c0001t0001g0273	14	314	0.0446	9	c.120 others(26): Show c.120-1607_120-1606insAAAAATATA		POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAAAATAT others(2): Show AAAAATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(30): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG01081.hp2 HG01169.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02486.hp2 HG02723.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18973.hp1 NA18992.hp2 NA19006.hp1 NA19067.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0003t0001g0175 a0002c0002t0001g0014	33	314	0.1051	9	c.120 others(26): Show c.120-1607_120-1606insAAATATATA		POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAATATAT others(2): Show AAATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG04228.hp2 others(5): Show HG00323.hp1 HG00621.hp2 HG04228.hp2 NA18965.hp1 NA18981.hp2 NA19004.hp2 NA19011.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0212 a0001c0001t0001g0213 others(5): Show a0001c0001t0001g0139 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218	8	314	0.0255	9	c.120 others(26): Show c.120-1607_120-1606insATATATATA		POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42373512	T T	TTTGTTGT others(2): Show TTTGTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG03098.hp2 others(8): Show HG02280.hp2 HG02559.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0095 a0001c0001t0001g0096 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0135	11	314	0.0350	9	c.18 others(20): Show c.1855_*1856insTTGTTGTTG		POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding					1705		chr8	TogoVar
POLD1_chr19_50379347_50423014	50390572	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02280.hp1 others(9): Show HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0007 a0001c0013 a0002c0002 others(1): Show a0001c0007 a0001c0013 a0002c0002 a0011c0030	a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 others(1): Show a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 a0011c0030t0001	a0001c0007t0001g0001 a0001c0007t0001g0046 a0001c0007t0001g0047 others(7): Show a0001c0007t0001g0001 a0001c0007t0001g0046 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0013t0001g0050 a0001c0013t0001g0099 a0002c0002t0001g0024 a0002c0002t0001g0055 a0011c0030t0001g0101	12	336	0.0357	9	c.-2+ others(24): Show c.-2+6190_-2+6198dupTTTTTTTTT		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50400133	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02976.hp1 HG04228.hp1 others(3): Show HG02698.hp2 HG02976.hp1 HG04228.hp1 NA18960.hp2 NA18969.hp2 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0090 a0002c0002t0001g0093 others(3): Show a0002c0002t0001g0070 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0107 a0002c0002t0001g0322 a0002c0002t0001g0324	6	336	0.0179	9	c.316 others(24): Show c.316+669_316+677dupTTTTTTTTT		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG02109.hp1 others(4): Show HG00544.hp2 HG01070.hp1 HG02109.hp1 HG02818.hp1 HG03942.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005	a0001c0002t0002g0030 a0001c0002t0002g0247 a0001c0002t0002g0248 others(4): Show a0001c0002t0002g0030 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0264 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0005g0034	7	400	0.0175	9	c.220 others(26): Show c.220-2126_220-2125insATATATATA		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11						chr11	TogoVar
POLE_chr12_132618762_132692342	132658881	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp2 NA18942.hp2 others(4): Show HG03139.hp1 HG03471.hp2 NA18942.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0002c0021 a0001c0005 a0002c0004 a0002c0021	a0001c0005t0004 a0002c0004t0001 a0002c0021t0001 a0001c0005t0004 a0002c0004t0001 a0002c0021t0001	a0001c0005t0004g0175 a0001c0005t0004g0191 a0002c0004t0001g0011 others(3): Show a0001c0005t0004g0175 a0001c0005t0004g0191 a0002c0004t0001g0011 a0002c0004t0001g0254 a0002c0004t0001g0258 a0002c0021t0001g0256	7	292	0.0240	9	c.327 others(26): Show c.3275+405_3275+413dupTTTTTTTTT		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	26/48						chr12	TogoVar
POLM_chr7_44067062_44087530	44085359	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG02145.hp2 others(8): Show HG00621.hp1 HG00735.hp2 HG02145.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG03139.hp1 HG03471.hp2 HG03704.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0018 a0001c0001t0003g0007 a0001c0001t0003g0017 others(7): Show a0001c0001t0002g0018 a0001c0001t0003g0007 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0005g0012 a0001c0001t0005g0042 a0001c0002t0001g0090 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0026	11	394	0.0279	9	c.-29 others(20): Show c.-2922_-2921insTTTTTTTTT		POLM	ENSG00000122678.17	transcript	ENST00000242248.10	protein_coding					2830		chr7	TogoVar
POLN_chr4_2066918_2247121	2201277	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG02559.hp1 others(3): Show HG00735.hp1 HG02486.hp1 HG02559.hp1 HG02896.hp1 NA18522.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0067 others(3): Show a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007	6	194	0.0309	9	c.715 others(26): Show c.715-2569_715-2561dupTTTTTTTTT		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	5/25						chr4	TogoVar
POLQ_chr3_121426431_121550988	121548720	T T	TTTAAAAA others(2): Show TTTAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02273.hp1 HG02602.hp2 others(9): Show HG01169.hp2 HG02273.hp1 HG02602.hp2 HG02735.hp1 HG02895.hp2 HG02965.hp2 NA18970.hp2 NA18980.hp1 NA18983.hp1 NA19030.hp2 NA19090.hp2 NA20752.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0014 a0016	a0001c0001 a0003c0002 a0006c0007 others(2): Show a0001c0001 a0003c0002 a0006c0007 a0014c0014 a0016c0017	a0001c0001t0001 a0003c0002t0001 a0006c0007t0001 others(2): Show a0001c0001t0001 a0003c0002t0001 a0006c0007t0001 a0014c0014t0005 a0016c0017t0001	a0001c0001t0001g0136 a0001c0001t0001g0181 a0001c0001t0001g0191 others(9): Show a0001c0001t0001g0136 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0254 a0001c0001t0001g0262 a0003c0002t0001g0123 a0003c0002t0001g0269 a0006c0007t0001g0279 a0006c0007t0001g0281 a0014c0014t0005g0019 a0014c0014t0005g0020 a0016c0017t0001g0259	12	318	0.0377	9	c.-28 others(20): Show c.-2844_-2843insTTTTTTTAA		POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding					2733		chr3	TogoVar
POLR1A_chr2_86015216_86110886	86068386	C C	CGGGGGGG others(2): Show CGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01070.hp1 others(23): Show HG00423.hp1 HG00438.hp2 HG01070.hp1 HG01175.hp2 HG01257.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02572.hp2 HG03139.hp2 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA19001.hp2 NA19056.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0001c0012 a0001c0016 others(3): Show a0001c0001 a0001c0012 a0001c0016 a0001c0024 a0005c0006 a0015c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0023 a0001c0001t0036 a0001c0001t0038 a0001c0012t0002 a0001c0016t0012 a0001c0024t0001 a0005c0006t0011 a0005c0006t0048 a0015c0025t0001	a0001c0001t0001g0009 a0001c0001t0001g0195 a0001c0001t0001g0199 others(22): Show a0001c0001t0001g0009 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0004g0234 a0001c0001t0012g0196 a0001c0001t0020g0183 a0001c0001t0023g0185 a0001c0001t0036g0243 a0001c0001t0038g0265 a0001c0012t0002g0150 a0001c0012t0002g0156 a0001c0016t0012g0194 a0001c0024t0001g0330 a0005c0006t0011g0113 a0005c0006t0048g0083 a0015c0025t0001g0267	26	340	0.0765	9	c.186 others(28): Show c.1866+1623_1866+1631dupCCCCCCCCC		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	13/33						chr2	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00733.hp1 others(12): Show HG00423.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG02083.hp2 HG02293.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03669.hp1 HG03831.hp2 NA18971.hp2 NA18977.hp1 NA19001.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0022 a0001c0024t0001	a0001c0001t0001g0009 a0001c0001t0001g0230 a0001c0001t0001g0231 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0254 a0001c0001t0004g0234 a0001c0001t0012g0178 a0001c0001t0022g0325 a0001c0024t0001g0330	15	340	0.0441	9	c.432 others(26): Show c.432+1388_432+1396dupTTTTTTTTT		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33						chr2	TogoVar
POLR1G_chr19_45401644_45415737	45409892	A A	ATTTTTTT others(2): Show ATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG02258.hp1 others(8): Show HG00423.hp1 HG01175.hp1 HG02258.hp1 HG02280.hp2 HG02735.hp1 HG02976.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03942.hp2 HG04184.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0029 a0004c0004t0050 a0004c0004t0051 others(4): Show a0004c0004t0029 a0004c0004t0050 a0004c0004t0051 a0004c0004t0107 a0004c0004t0108 a0004c0004t0111 a0004c0004t0112	a0004c0004t0029g0001 a0004c0004t0029g0021 a0004c0004t0050g0001 others(5): Show a0004c0004t0029g0001 a0004c0004t0029g0021 a0004c0004t0050g0001 a0004c0004t0051g0001 a0004c0004t0107g0001 a0004c0004t0108g0001 a0004c0004t0111g0001 a0004c0004t0112g0001	11	406	0.0271	9	c.39 others(18): Show c.393_*394insTTTTTTTTT		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				394	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR2C_chr16_57457679_57477009	57475696	C C	CTCTCTCT others(2): Show CTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03669.hp1 HG04184.hp2 others(1): Show HG02015.hp2 HG03669.hp1 HG04184.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0002t0001g0002	4	390	0.0103	9	c.45 others(20): Show c.4577_*4578insTCTCTCTCT		POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding					3688		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(2): Show CAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00735.hp1 others(18): Show HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG02109.hp1 HG02135.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18956.hp2 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0015 a0001c0003t0023 others(7): Show a0001c0003t0011 a0001c0003t0015 a0001c0003t0023 a0001c0003t0024 a0001c0003t0031 a0001c0003t0036 a0001c0003t0080 a0001c0003t0082 a0001c0003t0091 a0001c0003t0103	a0001c0003t0011g0038 a0001c0003t0011g0256 a0001c0003t0011g0260 others(15): Show a0001c0003t0011g0038 a0001c0003t0011g0256 a0001c0003t0011g0260 a0001c0003t0015g0029 a0001c0003t0015g0136 a0001c0003t0015g0138 a0001c0003t0023g0028 a0001c0003t0023g0153 a0001c0003t0024g0128 a0001c0003t0024g0135 a0001c0003t0024g0141 a0001c0003t0031g0150 a0001c0003t0031g0151 a0001c0003t0036g0257 a0001c0003t0080g0134 a0001c0003t0082g0139 a0001c0003t0091g0149 a0001c0003t0103g0142	21	358	0.0587	9	c.39 others(20): Show c.3991_*3999dupTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4				3999		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02135.hp1 HG02622.hp2 others(12): Show HG01069.hp2 HG02135.hp1 HG02622.hp2 HG03239.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 NA18964.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18989.hp2 NA18997.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0022 a0001c0001t0067 others(6): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0002t0003 a0001c0002t0016 a0001c0002t0096	a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0022g0066 others(10): Show a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0022g0066 a0001c0001t0022g0067 a0001c0001t0022g0070 a0001c0001t0067g0065 a0001c0001t0068g0068 a0001c0001t0069g0071 a0001c0001t0070g0069 a0001c0002t0003g0008 a0001c0002t0003g0064 a0001c0002t0016g0062 a0001c0002t0096g0063	15	358	0.0419	9	c.73+ others(24): Show c.73+1729_73+1737dupTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3						chr2	TogoVar
POLR2J2_chr7_102661046_102676663	102664310	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG01099.hp1 others(14): Show HG00558.hp1 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03486.hp1 HG03579.hp2 NA18943.hp1 NA18969.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0003c0003t0001g0016 a0003c0003t0001g0022 a0003c0003t0001g0025	17	52	0.3269	9	c.18 others(20): Show c.1820_*1821insAAAAAAAAA		POLR2J2	ENSG00000228049.8	transcript	ENST00000333432.9	protein_coding					1735		chr7	TogoVar
POLR2J3_chr7_102561966_102577583	102565227	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA18981.hp2 NA19003.hp1 others(1): Show HG04115.hp2 NA18981.hp2 NA19003.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0001 a0001c0002 a0003c0001	a0001c0002t0001 a0003c0001t0002 a0001c0002t0001 a0003c0001t0002	a0001c0002t0001g0007 a0003c0001t0002g0001 a0001c0002t0001g0007 a0003c0001t0002g0001	4	68	0.0588	9	c.18 others(20): Show c.1815_*1823dupAAAAAAAAA		POLR2J3	ENSG00000285437.2	transcript	ENST00000621093.5	protein_coding					1738		chr7	TogoVar
POLR3B_chr12_106352748_106515198	106514045	A A	AAAAAAAA others(2): Show AAAAAAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02630.hp2 others(1): Show HG01891.hp1 HG02109.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0007 a0001c0001t0001 a0001c0009t0007	a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0009t0007g0019	4	304	0.0132	9	c.44 others(20): Show c.4496_*4497insAAAAAAAGT		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding					3848		chr12	TogoVar
POLR3D_chr8_22240133_22259601	22241876	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp2 others(103): Show HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0005 others(3): Show a0001c0001 a0001c0002 a0002c0005 a0003c0008 a0004c0010 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0002t0002 a0002c0005t0001 a0003c0008t0005 a0004c0010t0002 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0005g0001 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0010g0001 a0001c0001t0014g0002 a0001c0001t0016g0003 a0001c0001t0022g0001 a0001c0001t0023g0003 a0001c0001t0026g0021 a0001c0001t0031g0001 a0001c0001t0034g0002 a0001c0001t0035g0002 a0001c0002t0002g0003 a0002c0005t0001g0002 a0003c0008t0005g0001 a0004c0010t0002g0003 a0005c0007t0001g0038	106	432	0.2454	9	c.-33 others(20): Show c.-3313_-3312insTTTTTTTTT		POLR3D	ENSG00000168495.13	transcript	ENST00000306433.9	protein_coding					3256		chr8	TogoVar
POLR3F_chr20_18462390_18489646	18482262	G G	GCATGTGC others(2): Show GCATGTGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03195.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG03195.hp1 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0009 a0004c0009t0009 a0001c0002t0009 a0004c0009t0009	a0001c0002t0009g0043 a0001c0002t0009g0048 a0001c0002t0009g0133 others(1): Show a0001c0002t0009g0043 a0001c0002t0009g0048 a0001c0002t0009g0133 a0004c0009t0009g0126	4	452	0.0089	9	c.873 others(24): Show c.873+454_873+462dupATGTGCCCC		POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
POLR3K_chr16_41407_58608	52765	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01361.hp2 others(7): Show HG01081.hp2 HG01175.hp2 HG01361.hp2 HG01496.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG03540.hp2 NA18964.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0013 a0001c0001t0003g0149 a0001c0001t0003g0151 others(4): Show a0001c0001t0003g0013 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0006g0150 a0001c0001t0006g0152	10	432	0.0232	9	c.111 others(24): Show c.111+702_111+710dupTTTTTTTTT		POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2						chr16	TogoVar
POLRMT_chr19_612221_638537	615946	C C	CCCGCCGC others(2): Show CCCGCCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG03927.hp2 NA19074.hp2 HG02080.hp1 HG03927.hp2 NA19074.hp2	a0004 a0019 a0029 a0004 a0019 a0029	a0004c0004 a0019c0035 a0029c0054 a0004c0004 a0019c0035 a0029c0054	a0004c0004t0001 a0019c0035t0003 a0029c0054t0001 a0004c0004t0001 a0019c0035t0003 a0029c0054t0001	a0004c0004t0001g0113 a0019c0035t0003g0275 a0029c0054t0001g0112 a0004c0004t0001g0113 a0019c0035t0003g0275 a0029c0054t0001g0112	3	422	0.0071	9	c.13 others(20): Show c.1319_*1327dupCGGCGGCGG		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding					1274		chr19	TogoVar
POM121C_chr7_75411786_75491299	75462038	A A	AAAAATAA others(2): Show AAAAATAATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01168.hp2 others(49): Show HG00140.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0011 a0013 a0023 a0024	a0002c0003 a0002c0012 a0002c0037 others(9): Show a0002c0003 a0002c0012 a0002c0037 a0002c0063 a0003c0011 a0005c0006 a0011c0018 a0013c0036 a0013c0051 a0013c0061 a0023c0060 a0024c0062	a0002c0003t0002 a0002c0003t0008 a0002c0003t0030 others(15): Show a0002c0003t0002 a0002c0003t0008 a0002c0003t0030 a0002c0012t0002 a0002c0012t0008 a0002c0012t0012 a0002c0012t0031 a0002c0037t0012 a0002c0063t0002 a0003c0011t0026 a0005c0006t0002 a0005c0006t0029 a0011c0018t0018 a0013c0036t0002 a0013c0051t0002 a0013c0061t0002 a0023c0060t0002 a0024c0062t0012	a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0120 others(49): Show a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0128 a0002c0003t0002g0129 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0134 a0002c0003t0008g0107 a0002c0003t0008g0112 a0002c0003t0008g0113 a0002c0003t0008g0115 a0002c0003t0008g0116 a0002c0003t0008g0121 a0002c0003t0008g0122 a0002c0003t0030g0114 a0002c0012t0002g0030 a0002c0012t0002g0031 a0002c0012t0002g0033 a0002c0012t0002g0035 a0002c0012t0002g0036 a0002c0012t0008g0032 a0002c0012t0012g0303 a0002c0012t0031g0034 a0002c0037t0012g0301 a0002c0037t0012g0302 a0002c0063t0002g0027 a0003c0011t0026g0138 a0005c0006t0002g0103 a0005c0006t0002g0108 a0005c0006t0002g0109 a0005c0006t0002g0110 a0005c0006t0002g0111 a0005c0006t0002g0117 a0005c0006t0002g0118 a0005c0006t0002g0119 a0005c0006t0002g0123 a0005c0006t0002g0125 a0005c0006t0002g0130 a0005c0006t0002g0135 a0005c0006t0002g0137 a0005c0006t0029g0126 a0011c0018t0018g0296 a0011c0018t0018g0298 a0013c0036t0002g0105 a0013c0036t0002g0106 a0013c0051t0002g0102 a0013c0061t0002g0104 a0023c0060t0002g0127 a0024c0062t0012g0304	52	308	0.1688	9	c.-15 others(30): Show c.-152+12657_-152+12665dupGATTATTTT		POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14						chr7	TogoVar
POM121_chr7_72920095_72953299	72925128	C C	CCGGCGGC others(2): Show CCGGCGGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00741.hp1 HG01109.hp2 others(3): Show HG00323.hp1 HG00741.hp1 HG01109.hp2 HG01256.hp2 HG02148.hp2 HG02300.hp1	a0013 a0033 a0013 a0033	a0013c0014 a0033c0044 a0013c0014 a0033c0044	a0013c0014t0001 a0033c0044t0045 a0013c0014t0001 a0033c0044t0045	a0013c0014t0001g0045 a0013c0014t0001g0060 a0013c0014t0001g0112 others(2): Show a0013c0014t0001g0045 a0013c0014t0001g0060 a0013c0014t0001g0112 a0013c0014t0001g0113 a0033c0044t0045g0053	6	424	0.0142	9	c.17_ others(14): Show c.17_25dupCGGCGGCTG	p.Ala others(9): Show p.Ala6_Ala8dup	POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding	1/13	53/5842	26/3750	9/1249		INFO_REALIGN_3_PRIME	chr7	TogoVar
POMC_chr2_25155860_25173580	25161587	C C	CGCCGCTG others(2): Show CGCCGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00733.hp1 HG00735.hp2 HG01070.hp2 others(35): Show HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0015 a0002c0003t0001g0027 others(5): Show a0002c0003t0001g0005 a0002c0003t0001g0015 a0002c0003t0001g0027 a0002c0003t0001g0035 a0002c0003t0001g0042 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0065	38	420	0.0905	9	c.289 others(16): Show c.289_297dupAGCAGCGGC	p.Gly others(21): Show p.Gly99_Ala100insSerSerGly	POMC	ENSG00000115138.11	transcript	ENST00000395826.7	protein_coding	3/3	400/1128	297/804	99/267			chr2	TogoVar
POMGNT1_chr1_46183683_46203434	46198533	C C	CGGCGGCG others(2): Show CGGCGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02602.hp1 HG02738.hp1 others(2): Show HG00639.hp1 HG02602.hp1 HG02738.hp1 HG03195.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0003t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0044	5	406	0.0123	9	c.-25 others(18): Show c.-257_-249dupACCGCCGCC		POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding					100		chr1	TogoVar
POMGNT1_chr1_46183683_46203434	46202920	G G	GGGGTGGT others(2): Show GGGGTGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01934.hp1 HG03490.hp1 others(10): Show HG01358.hp1 HG01934.hp1 HG03490.hp1 HG03492.hp1 HG03927.hp1 HG04184.hp1 NA18942.hp2 NA18967.hp2 NA18972.hp2 NA19004.hp1 NA19064.hp1 NA19078.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0002 a0001c0002t0001g0011	13	406	0.0320	9	c.-46 others(20): Show c.-4636_-4635insACACCACCC		POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding					4487		chr1	TogoVar
POMGNT1_chr1_46183683_46203434	46202920	G G	GGTGGTGT others(2): Show GGTGGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG03017.hp2 NA18969.hp1 others(2): Show HG00738.hp2 HG03017.hp2 NA18969.hp1 NA18987.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0040 a0001c0002t0001g0002 a0001c0002t0001g0040	5	406	0.0123	9	c.-46 others(20): Show c.-4636_-4635insACACACCAC		POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding					4487		chr1	TogoVar
POMP_chr13_28654130_28683959	28654886	A A	ATTTTTTT others(2): Show ATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01074.hp1 others(7): Show HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01358.hp1 HG02040.hp2 NA18939.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0136	10	432	0.0232	9	c.-42 others(20): Show c.-4299_-4298insTTTTTTTTT		POMP	ENSG00000132963.9	transcript	ENST00000380842.5	protein_coding					4243		chr13	TogoVar
POMZP3_chr7_76604986_76632279	76614564	C C	CCAAAAAA others(2): Show CCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(62): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp2 HG01433.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp1 NA18952.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18992.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19065.hp1 NA19067.hp2 NA19080.hp1 NA19088.hp2 NA20300.hp2 NA21309.hp2	a0000 a0004 a0000 a0004	a0000c0002 a0000c0005 a0000c0013 others(1): Show a0000c0002 a0000c0005 a0000c0013 a0004c0012	a0000c0002t0003 a0000c0002t0004 a0000c0002t0007 others(7): Show a0000c0002t0003 a0000c0002t0004 a0000c0002t0007 a0000c0002t0008 a0000c0002t0014 a0000c0002t0015 a0000c0002t0016 a0000c0005t0004 a0000c0013t0004 a0004c0012t0028	a0000c0002t0003g0155 a0000c0002t0004g0023 a0000c0002t0004g0024 others(55): Show a0000c0002t0003g0155 a0000c0002t0004g0023 a0000c0002t0004g0024 a0000c0002t0004g0025 a0000c0002t0004g0026 a0000c0002t0004g0197 a0000c0002t0004g0198 a0000c0002t0004g0208 a0000c0002t0004g0209 a0000c0002t0004g0210 a0000c0002t0004g0211 a0000c0002t0004g0212 a0000c0002t0004g0213 a0000c0002t0004g0214 a0000c0002t0004g0215 a0000c0002t0004g0216 a0000c0002t0004g0217 a0000c0002t0004g0218 a0000c0002t0004g0219 a0000c0002t0004g0220 a0000c0002t0004g0221 a0000c0002t0004g0222 a0000c0002t0004g0223 a0000c0002t0004g0224 a0000c0002t0004g0225 a0000c0002t0004g0226 a0000c0002t0004g0228 a0000c0002t0004g0229 a0000c0002t0004g0230 a0000c0002t0004g0231 a0000c0002t0004g0232 a0000c0002t0004g0233 a0000c0002t0004g0234 a0000c0002t0004g0235 a0000c0002t0004g0236 a0000c0002t0004g0237 a0000c0002t0004g0240 a0000c0002t0007g0027 a0000c0002t0007g0244 a0000c0002t0007g0245 a0000c0002t0007g0246 a0000c0002t0007g0247 a0000c0002t0008g0017 a0000c0002t0008g0153 a0000c0002t0008g0154 a0000c0002t0014g0011 a0000c0002t0015g0199 a0000c0002t0015g0200 a0000c0002t0016g0241 a0000c0002t0016g0242 a0000c0005t0004g0201 a0000c0005t0004g0202 a0000c0005t0004g0203 a0000c0005t0004g0204 a0000c0005t0004g0205 a0000c0005t0004g0206 a0000c0013t0004g0239 a0004c0012t0028g0207	65	423	0.1537	9	c.346 others(26): Show c.346-2752_346-2751insTTTTTTTTG		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6						chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp1 HG02965.hp1 others(5): Show HG01069.hp2 HG01891.hp1 HG02965.hp1 HG03195.hp1 HG03654.hp2 HG04199.hp2 HG06807.hp2 NA19058.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0003c0003t0001 a0005c0005t0005	a0001c0001t0001g0151 a0001c0001t0004g0130 a0001c0001t0004g0303 others(5): Show a0001c0001t0001g0151 a0001c0001t0004g0130 a0001c0001t0004g0303 a0001c0001t0004g0306 a0001c0001t0004g0316 a0001c0001t0018g0046 a0003c0003t0001g0293 a0005c0005t0005g0091	8	434	0.0184	9	c.909 others(24): Show c.909+100_909+108dupTTTTTTTTT		PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8						chr7	TogoVar
PON1_chr7_95292676_95329532	95322326	A A	AATATGTA others(2): Show AATATGTATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02723.hp2 others(1): Show HG02559.hp1 HG02572.hp1 HG02723.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0001c0001t0018 a0002c0002t0009 a0001c0001t0017 a0001c0001t0018 a0002c0002t0009	a0001c0001t0017g0047 a0001c0001t0018g0046 a0002c0002t0009g0044 others(1): Show a0001c0001t0017g0047 a0001c0001t0018g0046 a0002c0002t0009g0044 a0002c0002t0009g0045	4	434	0.0092	9	c.74+ others(24): Show c.74+2075_74+2076insCATACATAT		PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	1/8						chr7	TogoVar
POR_chr7_75910155_75991855	75975814	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp2 HG01109.hp2 others(41): Show HG00438.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02738.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03654.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18954.hp1 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0022 a0001c0023 a0002c0001 a0002c0017 a0003c0010 a0005c0011 a0006c0014	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(12): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0022t0001 a0001c0023t0001 a0002c0001t0002 a0002c0001t0008 a0002c0017t0002 a0003c0010t0002 a0005c0011t0002 a0006c0014t0001	a0001c0002t0001g0023 a0001c0002t0001g0084 a0001c0002t0001g0090 others(41): Show a0001c0002t0001g0023 a0001c0002t0001g0084 a0001c0002t0001g0090 a0001c0002t0001g0126 a0001c0002t0001g0137 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0247 a0001c0003t0001g0020 a0001c0003t0001g0035 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0004t0001g0127 a0001c0004t0001g0130 a0001c0004t0001g0252 a0001c0004t0001g0270 a0001c0005t0001g0016 a0001c0005t0001g0029 a0001c0005t0001g0031 a0001c0005t0001g0032 a0001c0005t0001g0034 a0001c0005t0001g0036 a0001c0005t0001g0111 a0001c0006t0001g0007 a0001c0006t0001g0238 a0001c0007t0001g0242 a0001c0009t0001g0010 a0001c0022t0001g0024 a0001c0023t0001g0025 a0002c0001t0002g0117 a0002c0001t0002g0147 a0002c0001t0002g0186 a0002c0001t0002g0204 a0002c0001t0002g0209 a0002c0001t0002g0229 a0002c0001t0002g0258 a0002c0001t0002g0268 a0002c0001t0008g0149 a0002c0017t0002g0232 a0003c0010t0002g0233 a0005c0011t0002g0140 a0005c0011t0002g0145 a0006c0014t0001g0257	44	278	0.1583	9	c.228 others(26): Show c.228+3362_228+3370dupTTTTTTTTT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
POT1_chr7_124817386_124934825	124884963	C C	CTAGGAAA others(2): Show CTAGGAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(13): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02647.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03491.hp2 HG03540.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(13): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120	16	346	0.0462	9	c.124 others(26): Show c.124+7294_124+7302dupATTTTCCTA		POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	6/18						chr7	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAC others(2): Show AAAAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02622.hp1 others(7): Show HG02280.hp1 HG02486.hp1 HG02622.hp1 HG03041.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019	a0001c0001t0007g0004 a0001c0001t0008g0029 a0001c0001t0008g0035 others(3): Show a0001c0001t0007g0004 a0001c0001t0008g0029 a0001c0001t0008g0035 a0001c0001t0008g0190 a0001c0001t0016g0059 a0001c0001t0019g0158	10	416	0.0240	9	c.47 others(20): Show c.4721_*4722insAAAAAACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POTEE_chr2_131204536_131270278	131212570	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02559.hp1 others(3): Show HG01109.hp2 HG01361.hp1 HG02559.hp1 HG06807.hp2 NA18906.hp2 NA18984.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0001c0003 a0001c0037 others(1): Show a0001c0001 a0001c0003 a0001c0037 a0025c0038	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0037t0006 a0025c0038t0004	a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0001t0003g0212 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0001t0003g0212 a0001c0003t0004g0271 a0001c0037t0006g0016 a0025c0038t0004g0277	6	288	0.0208	9	c.-18 others(28): Show c.-189+1390_-189+1398dupTTTTTTTTT		POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
POU1F1_chr3_87254404_87281584	87257942	C C	CAATAATA others(2): Show CAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01081.hp1 others(24): Show HG00544.hp1 HG00735.hp1 HG01081.hp1 HG01515.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG03239.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG04184.hp1 NA18959.hp1 NA18974.hp1 NA18989.hp2 NA18997.hp1 NA19010.hp2 NA19012.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0017 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0051 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0057 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0133 a0001c0001t0005g0106 a0001c0001t0006g0037 a0001c0001t0006g0064 a0001c0001t0007g0027	27	420	0.0643	9	c.19 others(20): Show c.1951_*1952insATTATTATT		POU1F1	ENSG00000064835.12	transcript	ENST00000350375.7	protein_coding					1461		chr3	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAATAT others(2): Show AAAAATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp2 NA18987.hp2 others(3): Show HG02040.hp1 HG02056.hp2 NA18987.hp2 NA18995.hp2 NA18999.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0028 a0001c0001t0003g0168 a0001c0001t0003g0191 others(3): Show a0001c0001t0003g0028 a0001c0001t0003g0168 a0001c0001t0003g0191 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0352	6	380	0.0158	9	c.121 others(26): Show c.121-4944_121-4943insAAATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAATATAT others(2): Show AAATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp2 HG01346.hp2 others(6): Show HG00408.hp2 HG01255.hp2 HG01346.hp2 HG01981.hp1 NA18943.hp2 NA18972.hp2 NA19002.hp1 NA19056.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0005c0007t0003	a0001c0001t0002g0253 a0001c0001t0003g0007 a0001c0001t0003g0174 others(5): Show a0001c0001t0002g0253 a0001c0001t0003g0007 a0001c0001t0003g0174 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0194 a0001c0001t0004g0123 a0005c0007t0003g0187	9	380	0.0237	9	c.121 others(26): Show c.121-4944_121-4943insATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar

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