Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
POLR3B_chr12_106352748_106515198	106479796	C C	CTTCTTTT others(13): Show CTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02015.hp2 others(13): Show HG01081.hp2 HG01346.hp1 HG02015.hp2 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp2 HG03516.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0141 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0303 a0001c0006t0001g0003 a0001c0006t0001g0004	16	304	0.0526	20	c.271 others(41): Show c.2713+16190_2713+16209dupTTTTCTTTTCTTTTCTTTTC	POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3C_chr1_145819200_145849402	145821457	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	368	0.0027	20	c.-29 others(31): Show c.-2933_-2932insTTTTTTTTTTTTTTTTTTTT	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding		2742		chr1	TogoVar
POLR3C_chr1_145819200_145849402	145842793	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01123.hp1 others(16): Show HG00280.hp2 HG00639.hp1 HG01123.hp1 HG01175.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02129.hp2 HG02486.hp2 HG02717.hp2 HG02886.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG04228.hp1 NA18972.hp1 NA18981.hp1 NA19075.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0008 a0008c0009 a0001c0001 a0007c0008 a0008c0009	a0001c0001t0003 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0024 a0007c0008t0003 a0008c0009t0003	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0027 others(9): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0003g0045 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0023g0002 a0001c0001t0024g0046 a0007c0008t0003g0123 a0008c0009t0003g0002	19	368	0.0516	20	c.37 others(29): Show c.378_*397dupGATAGATAGATAGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 NA19043.hp2 others(1): Show HG02970.hp2 HG03041.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0301 a0001c0001t0001g0316 a0001c0001t0001g0010 a0001c0001t0001g0301 a0001c0001t0001g0316	4	358	0.0112	20	c.36+ others(33): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3F_chr20_18462390_18489646	18486183	T T	TATAAATA others(13): Show TATAAATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA19030.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0073 a0001c0001t0011g0114 a0001c0001t0011g0073 a0001c0001t0011g0114	2	452	0.0044	20	c.26 others(31): Show c.2625_*2626insATAAATATATATATATATAA	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1538		chr20	TogoVar
POLR3G_chr5_90469864_90519557	90470785	C C	CACACACA others(13): Show CACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	366	0.0027	20	c.-42 others(31): Show c.-4279_-4278insACACACACACACACACACAA	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		4078		chr5	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG01109.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	2	366	0.0055	20	c.-44 others(37): Show c.-44+3566_-44+3567insTTTTTTTTTTTTTTTTTTTT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01884.hp1 others(20): Show HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02056.hp2 HG02071.hp1 HG02451.hp2 HG02723.hp2 HG02976.hp2 HG03017.hp2 HG03471.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 NA18969.hp1 NA18983.hp1 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA19062.hp1 NA19075.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026	a0001c0001t0001g0096 a0001c0001t0002g0003 a0001c0001t0002g0004 others(19): Show a0001c0001t0001g0096 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0005g0062 a0001c0001t0005g0153 a0001c0001t0005g0187 a0001c0001t0013g0035 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0016g0246 a0001c0001t0023g0206 a0001c0001t0026g0220 a0001c0001t0026g0221	23	366	0.0628	20	c.26 others(31): Show c.2616_*2617insACACACACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POLR3K_chr16_41407_58608	44314	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00741.hp1 others(17): Show HG00621.hp1 HG00639.hp1 HG00741.hp1 HG01099.hp2 HG01175.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01978.hp2 HG03139.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp2 NA18966.hp2 NA18991.hp2 NA18997.hp1 NA19012.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0180 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0180 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0003g0009 a0001c0001t0003g0158 a0001c0001t0004g0017 a0001c0001t0004g0123 a0001c0001t0004g0125 a0001c0001t0005g0143 a0001c0001t0016g0142	20	432	0.0463	20	c.31 others(31): Show c.3115_*3116insGTGTGTGTGTGTGTGTGTGT	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding		2092		chr16	TogoVar
POLRMT_chr19_612221_638537	612393	G G	GGTGGGTG others(13): Show GGTGGGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0291 a0004c0004t0003g0291	1	422	0.0024	20	c.48 others(31): Show c.4880_*4881insACACACACACACACACCCAC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		4827		chr19	TogoVar
POLRMT_chr19_612221_638537	612427	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG02040.hp1 others(5): Show HG01069.hp2 HG01099.hp2 HG02040.hp1 HG02155.hp2 NA18943.hp1 NA18995.hp2 NA19066.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0008 a0001c0001t0001 a0002c0003t0008	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0088 a0002c0003t0008g0344	8	422	0.0190	20	c.48 others(31): Show c.4846_*4847insTCTCACACACACACACACAC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		4793		chr19	TogoVar
POLRMT_chr19_612221_638537	626886	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0194 a0004c0004t0002g0194	1	422	0.0024	20	c.823 others(37): Show c.823-1633_823-1632insGTGTGTGTGTGTGTGTGTGT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POLRMT_chr19_612221_638537	626898	C C	CACACACA others(13): Show CACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp2 NA19007.hp1 HG02486.hp1 HG03209.hp2 NA19007.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0189 a0004c0004t0002g0261 a0004c0004t0002g0263 a0004c0004t0002g0189 a0004c0004t0002g0261 a0004c0004t0002g0263	3	422	0.0071	20	c.823 others(37): Show c.823-1645_823-1644insATATGTGTGTGTGTGTGTGT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POLRMT_chr19_612221_638537	633529	G G	GGCGCCGC others(13): Show GGCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(113): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00597.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0024 a0025 a0026 a0027 a0028 a0033 a0040	a0001c0001 a0002c0003 a0002c0006 others(35): Show a0001c0001 a0002c0003 a0002c0006 a0002c0007 a0002c0013 a0002c0022 a0002c0025 a0002c0030 a0002c0041 a0002c0044 a0002c0052 a0002c0069 a0002c0070 a0003c0002 a0004c0004 a0004c0012 a0004c0023 a0004c0024 a0004c0027 a0004c0029 a0004c0039 a0006c0008 a0007c0010 a0008c0011 a0008c0036 a0010c0015 a0010c0050 a0011c0018 a0012c0017 a0013c0067 a0013c0068 a0024c0057 a0025c0065 a0026c0045 a0027c0046 a0028c0055 a0033c0058 a0040c0033	a0001c0001t0002 a0002c0003t0002 a0002c0006t0002 others(36): Show a0001c0001t0002 a0002c0003t0002 a0002c0006t0002 a0002c0007t0002 a0002c0013t0002 a0002c0013t0010 a0002c0022t0002 a0002c0025t0002 a0002c0030t0002 a0002c0041t0002 a0002c0044t0002 a0002c0052t0002 a0002c0069t0002 a0002c0070t0002 a0003c0002t0002 a0004c0004t0002 a0004c0012t0002 a0004c0023t0002 a0004c0024t0002 a0004c0027t0002 a0004c0029t0002 a0004c0039t0002 a0006c0008t0002 a0007c0010t0002 a0008c0011t0002 a0008c0036t0002 a0010c0015t0002 a0010c0050t0002 a0011c0018t0002 a0012c0017t0002 a0013c0067t0002 a0013c0068t0002 a0024c0057t0002 a0025c0065t0002 a0026c0045t0002 a0027c0046t0002 a0028c0055t0002 a0033c0058t0002 a0040c0033t0002	a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0195 others(104): Show a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0235 a0002c0003t0002g0184 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0253 a0002c0006t0002g0026 a0002c0006t0002g0239 a0002c0006t0002g0241 a0002c0006t0002g0248 a0002c0006t0002g0249 a0002c0006t0002g0250 a0002c0006t0002g0251 a0002c0006t0002g0254 a0002c0006t0002g0255 a0002c0007t0002g0025 a0002c0007t0002g0210 a0002c0007t0002g0212 a0002c0007t0002g0217 a0002c0007t0002g0218 a0002c0007t0002g0219 a0002c0007t0002g0220 a0002c0007t0002g0221 a0002c0007t0002g0223 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0013t0002g0236 a0002c0013t0002g0270 a0002c0013t0010g0273 a0002c0013t0010g0274 a0002c0022t0002g0245 a0002c0022t0002g0246 a0002c0025t0002g0237 a0002c0025t0002g0240 a0002c0030t0002g0199 a0002c0030t0002g0200 a0002c0041t0002g0216 a0002c0044t0002g0252 a0002c0052t0002g0242 a0002c0069t0002g0211 a0002c0070t0002g0222 a0003c0002t0002g0027 a0003c0002t0002g0257 a0003c0002t0002g0258 a0003c0002t0002g0259 a0003c0002t0002g0272 a0004c0004t0002g0176 a0004c0004t0002g0178 a0004c0004t0002g0179 a0004c0004t0002g0180 a0004c0004t0002g0183 a0004c0004t0002g0186 a0004c0004t0002g0187 a0004c0004t0002g0188 a0004c0004t0002g0189 a0004c0004t0002g0194 a0004c0004t0002g0201 a0004c0004t0002g0230 a0004c0004t0002g0232 a0004c0004t0002g0260 a0004c0004t0002g0261 a0004c0004t0002g0263 a0004c0004t0002g0264 a0004c0004t0002g0265 a0004c0004t0002g0266 a0004c0012t0002g0206 a0004c0012t0002g0207 a0004c0023t0002g0192 a0004c0023t0002g0256 a0004c0024t0002g0177 a0004c0024t0002g0193 a0004c0027t0002g0181 a0004c0027t0002g0182 a0004c0029t0002g0205 a0004c0029t0002g0208 a0004c0039t0002g0262 a0006c0008t0002g0271 a0007c0010t0002g0267 a0007c0010t0002g0268 a0007c0010t0002g0269 a0008c0011t0002g0229 a0008c0011t0002g0231 a0008c0011t0002g0233 a0008c0011t0002g0234 a0008c0036t0002g0175 a0010c0015t0002g0012 a0010c0050t0002g0224 a0011c0018t0002g0214 a0011c0018t0002g0215 a0011c0018t0002g0225 a0012c0017t0002g0202 a0012c0017t0002g0203 a0012c0017t0002g0204 a0013c0067t0002g0213 a0013c0068t0002g0228 a0024c0057t0002g0191 a0025c0065t0002g0209 a0026c0045t0002g0247 a0027c0046t0002g0238 a0028c0055t0002g0190 a0033c0058t0002g0185 a0040c0033t0002g0174	116	422	0.2749	20	c.-18 others(27): Show c.-18_-17insGGCGGCGGCGGCGGCGGCGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	1/21	18		chr19	TogoVar
POM121C_chr7_75411786_75491299	75464856	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0020 a0003c0031t0020	a0003c0031t0020g0165 a0003c0031t0020g0165	1	308	0.0033	20	c.-15 others(39): Show c.-152+9828_-152+9847dupTTTTTTTTTTTTTTTTTTTT	POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14			chr7	TogoVar
POMP_chr13_28654130_28683959	28683462	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	432	0.0023	20	c.53 others(31): Show c.5360_*5361insAAATAAATAAATAAATAAAT	POMP	ENSG00000132963.9	transcript	ENST00000380842.5	protein_coding		4504		chr13	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18969.hp2 NA18977.hp2 others(2): Show NA18948.hp1 NA18969.hp2 NA18977.hp2 NA19059.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0240 a0001c0001t0002g0242 others(2): Show a0001c0001t0002g0217 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0273 a0001c0001t0002g0274	5	434	0.0115	20	c.909 others(34): Show c.909+89_909+108dupTTTTTTTTTTTTTTTTTTTT	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8			chr7	TogoVar
PON2_chr7_95399862_95440028	95417690	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	398	0.0025	20	c.146 others(37): Show c.146-1413_146-1394dupGTGTGTGTGTGTGTGTGTGT	PON2	ENSG00000105854.13	transcript	ENST00000222572.8	protein_coding	2/8			chr7	TogoVar
PON2_chr7_95399862_95440028	95417716	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01099.hp1 others(6): Show HG00639.hp1 HG00733.hp2 HG01099.hp1 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02280.hp1 HG02809.hp2 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0085 a0002c0002t0002g0087 others(5): Show a0002c0002t0002g0063 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0091 a0002c0002t0002g0097 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0241	9	398	0.0226	20	c.146 others(37): Show c.146-1420_146-1419insCTGTGTGTGTGTGTGTGTGT	PON2	ENSG00000105854.13	transcript	ENST00000222572.8	protein_coding	2/8			chr7	TogoVar
POP7_chr7_100701121_100712486	100710266	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02965.hp1 HG03225.hp2 HG01168.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0003g0001	3	382	0.0079	20	c.30 others(31): Show c.3013_*3014insTGTGTATATATATATATATA	POP7	ENSG00000172336.5	transcript	ENST00000303151.5	protein_coding		2781		chr7	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01934.hp1 others(10): Show HG01358.hp2 HG01361.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02083.hp1 HG03492.hp1 NA18940.hp2 NA18955.hp2 NA18966.hp2 NA18992.hp2 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0002 a0003c0008t0002 a0002c0002t0002 a0003c0008t0002	a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0027 others(3): Show a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0068 a0003c0008t0002g0069	13	410	0.0317	20	c.16 others(31): Show c.1623_*1642dupTTTTTTTTTTTTTTTTTTTT	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1093		chr3	TogoVar
POPDC2_chr3_119637056_119665589	119662209	G G	GGAAGGAA others(13): Show GGAAGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	20	c.-17 others(31): Show c.-1787_-1786insTTTCTTTCTTTCTTTCCTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1621		chr3	TogoVar
POPDC2_chr3_119637056_119665589	119662209	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	410	0.0024	20	c.-17 others(31): Show c.-1787_-1786insTTTCTTTCTTTCCTTCCTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1621		chr3	TogoVar
POPDC2_chr3_119637056_119665589	119662209	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	410	0.0024	20	c.-17 others(31): Show c.-1787_-1786insTTTCTTTCCTTCCTTCCTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1621		chr3	TogoVar
POPDC2_chr3_119637056_119665589	119662209	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	410	0.0024	20	c.-17 others(31): Show c.-1787_-1786insTTTCCTTCCTTCCTTCCTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1621		chr3	TogoVar
POR_chr7_75910155_75991855	75988977	G G	GGGTGTGT others(13): Show GGGTGTGTGGAGGGGAAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0025 a0001c0023t0001g0025	1	278	0.0036	20	c.24 others(31): Show c.2496_*2497insGGTGTGTGGAGGGGAAGGCC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2123		chr7	TogoVar
POSTN_chr13_37557585_37603768	37564158	A A	ATACTTGT others(13): Show ATACTTGTATATACAAAACAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(49): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01074.hp1 HG01169.hp1 HG01952.hp1 HG01975.hp1 HG02071.hp2 HG02135.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18997.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19054.hp1 NA19064.hp2 NA19068.hp1 NA19083.hp2 NA19087.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0010 a0001c0001 a0002c0002 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0004c0010t0001	a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0091 others(45): Show a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0271 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0323 a0001c0001t0002g0329 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0003g0274 a0001c0001t0003g0280 a0001c0001t0006g0176 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0109 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0140 a0002c0002t0001g0222 a0004c0010t0001g0182	52	416	0.1250	20	c.247 others(37): Show c.2473+341_2473+360dupATGTTTTGTATATACAAGTA	POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	22/22			chr13	TogoVar
POSTN_chr13_37557585_37603768	37567235	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp2 HG01243.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0095 a0001c0001t0007g0125 a0001c0001t0001g0095 a0001c0001t0007g0125	2	416	0.0048	20	c.243 others(39): Show c.2431+2064_2431+2065insTTTTTTTTTTTTTTTTTTTT	POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	21/22			chr13	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01358.hp2 HG01978.hp2 others(9): Show HG00621.hp2 HG01358.hp2 HG01978.hp2 HG02129.hp2 HG02723.hp1 HG02738.hp2 NA18950.hp1 NA18985.hp1 NA18999.hp2 NA19066.hp1 NA19079.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0003c0005t0001 a0001c0001t0001 a0001c0001t0006 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0207 a0001c0001t0001g0210 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0268 a0001c0001t0001g0320 a0001c0001t0006g0203 a0003c0005t0001g0215	12	346	0.0347	20	c.62 others(31): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAA	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding		4696		chr7	TogoVar
POT1_chr7_124817386_124934825	124877840	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19081.hp1 HG01934.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0055 a0001c0001t0002g0056	2	346	0.0058	20	c.125 others(37): Show c.125-6819_125-6800dupTTTTTTTTTTTTTTTTTTTT	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	6/18			chr7	TogoVar
POT1_chr7_124817386_124934825	124896052	A A	ACACTTTT others(13): Show ACACTTTTAATACTATATTCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	346	0.0029	20	c.9+1 others(33): Show c.9+1093_9+1112dupAGAATATAGTATTAAAAGTG	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	5/18			chr7	TogoVar
POTEC_chr18_14502339_14548600	14516296	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0015 a0008c0010t0015	a0008c0010t0015g0228 a0008c0010t0015g0228	1	388	0.0026	20	c.141 others(39): Show c.1410-2512_1410-2511insTATATATATATATATATATA	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10			chr18	TogoVar
POTEC_chr18_14502339_14548600	14516298	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp2 HG02572.hp2 others(4): Show HG01175.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02735.hp2 HG02818.hp2 NA19043.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0007 a0008c0010 a0002c0002 a0003c0007 a0008c0010	a0002c0002t0002 a0003c0007t0024 a0008c0010t0014 a0002c0002t0002 a0003c0007t0024 a0008c0010t0014	a0002c0002t0002g0124 a0002c0002t0002g0144 a0002c0002t0002g0150 others(4): Show a0002c0002t0002g0124 a0002c0002t0002g0144 a0002c0002t0002g0150 a0002c0002t0002g0170 a0002c0002t0002g0178 a0003c0007t0024g0182 a0008c0010t0014g0220	7	388	0.0180	20	c.141 others(39): Show c.1410-2533_1410-2514dupTATATATATATATATATATA	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10			chr18	TogoVar
POTEC_chr18_14502339_14548600	14516332	A A	ATATATAT others(13): Show ATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0139 a0002c0002t0047g0139	1	388	0.0026	20	c.141 others(39): Show c.1410-2548_1410-2547insGGTATATATATATATATATA	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	9/10			chr18	TogoVar
POTEC_chr18_14502339_14548600	14537172	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	388	0.0026	20	c.810 others(35): Show c.810+609_810+628dupGTGTGTGTGTGTGTGTGTGT	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	3/10			chr18	TogoVar
POTEC_chr18_14502339_14548600	14537210	C C	CACACACA others(13): Show CACACACACACACACAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	388	0.0026	20	c.810 others(35): Show c.810+590_810+591insTTTTTTGTGTGTGTGTGTGT	POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	3/10			chr18	TogoVar
POTED_chr21_13604777_13650823	13636992	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01255.hp2 others(14): Show HG00642.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02293.hp1 HG02683.hp1 HG03704.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0049 a0002c0002t0002 a0002c0002t0049	a0002c0002t0002g0007 a0002c0002t0002g0037 a0002c0002t0002g0060 others(7): Show a0002c0002t0002g0007 a0002c0002t0002g0037 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0049g0066	17	416	0.0409	20	c.141 others(39): Show c.1410-2510_1410-2509insATATATATATATATATATAT	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18979.hp1 HG00673.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0193 a0001c0003t0024g0194 a0001c0003t0024g0193 a0001c0003t0024g0194	2	416	0.0048	20	c.47 others(31): Show c.4721_*4722insAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTEE_chr2_131204536_131270278	131211520	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(69): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02602.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 NA18747.hp1 NA18956.hp2 NA18966.hp1 NA18984.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19086.hp1 NA19086.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(11): Show a0001 a0002 a0005 a0006 a0007 a0009 a0010 a0013 a0021 a0022 a0023 a0036 a0040 a0045	a0001c0001 a0001c0012 a0001c0033 others(15): Show a0001c0001 a0001c0012 a0001c0033 a0002c0005 a0005c0007 a0006c0006 a0007c0011 a0007c0026 a0009c0014 a0009c0027 a0010c0010 a0013c0017 a0021c0055 a0022c0054 a0023c0042 a0036c0030 a0040c0039 a0045c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0012t0010 a0001c0033t0001 a0002c0005t0006 a0005c0007t0001 a0006c0006t0009 a0007c0011t0008 a0007c0026t0008 a0009c0014t0012 a0009c0027t0012 a0010c0010t0001 a0013c0017t0001 a0021c0055t0001 a0022c0054t0001 a0023c0042t0015 a0036c0030t0017 a0040c0039t0001 a0045c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0136 others(67): Show a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0147 a0001c0001t0003g0187 a0001c0001t0013g0174 a0001c0001t0015g0173 a0001c0001t0016g0151 a0001c0012t0010g0140 a0001c0012t0010g0141 a0001c0012t0010g0172 a0001c0033t0001g0007 a0002c0005t0006g0013 a0002c0005t0006g0017 a0002c0005t0006g0018 a0005c0007t0001g0154 a0005c0007t0001g0155 a0005c0007t0001g0158 a0005c0007t0001g0163 a0005c0007t0001g0168 a0006c0006t0009g0004 a0006c0006t0009g0104 a0007c0011t0008g0159 a0007c0026t0008g0053 a0009c0014t0012g0184 a0009c0027t0012g0160 a0010c0010t0001g0150 a0013c0017t0001g0148 a0021c0055t0001g0152 a0022c0054t0001g0161 a0023c0042t0015g0145 a0036c0030t0017g0144 a0040c0039t0001g0170 a0045c0022t0001g0248	72	288	0.2500	20	c.-18 others(37): Show c.-189+338_-189+357dupTGTGTGTGTGTGTGTGTGTG	POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
POU2AF1_chr11_111347255_111384275	111372055	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0325 a0001c0001t0019g0325	1	384	0.0026	20	c.16+ others(35): Show c.16+7106_16+7107insCTCTCTCTCTCTCTCTCTCT	POU2AF1	ENSG00000110777.12	transcript	ENST00000393067.8	protein_coding	1/4			chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111247189	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0359 a0001c0001t0002g0359	1	380	0.0026	20	c.10+ others(35): Show c.10+1327_10+1328insGAGAGAGAGAGAGAGAGAGA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	380	0.0026	20	c.121 others(37): Show c.121-4944_121-4943insAAAATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	380	0.0026	20	c.121 others(37): Show c.121-4944_121-4943insAATATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0358 a0001c0001t0002g0358	1	380	0.0026	20	c.121 others(37): Show c.121-4934_121-4915dupATATATATATATATATATAT	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F1_chr1_167215886_167432340	167237772	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0091 a0001c0001t0010g0091	1	292	0.0034	20	c.61+ others(37): Show c.61+16815_61+16816insATATATATATATATTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F1_chr1_167215886_167432340	167278812	G G	GAATTTAA others(13): Show GAATTTAATAAAATTCTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(218): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(65): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0002t0003 a0001c0002t0072 a0001c0003t0061 a0001c0006t0074 a0002c0004t0077	a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 others(218): Show a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0004g0142 a0001c0001t0004g0156 a0001c0001t0004g0179 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0202 a0001c0001t0004g0250 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0289 a0001c0001t0007g0290 a0001c0001t0007g0291 a0001c0001t0008g0024 a0001c0001t0008g0257 a0001c0001t0008g0258 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0009g0014 a0001c0001t0009g0023 a0001c0001t0009g0218 a0001c0001t0009g0224 a0001c0001t0009g0251 a0001c0001t0010g0091 a0001c0001t0010g0092 a0001c0001t0010g0093 a0001c0001t0010g0096 a0001c0001t0011g0266 a0001c0001t0011g0267 a0001c0001t0011g0268 a0001c0001t0011g0269 a0001c0001t0012g0025 a0001c0001t0012g0026 a0001c0001t0012g0094 a0001c0001t0012g0095 a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0014g0211 a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0015g0157 a0001c0001t0015g0163 a0001c0001t0015g0167 a0001c0001t0017g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 a0001c0001t0018g0117 a0001c0001t0018g0118 a0001c0001t0018g0119 a0001c0001t0019g0256 a0001c0001t0019g0260 a0001c0001t0019g0264 a0001c0001t0020g0022 a0001c0001t0020g0239 a0001c0001t0020g0241 a0001c0001t0022g0044 a0001c0001t0022g0186 a0001c0001t0023g0170 a0001c0001t0023g0247 a0001c0001t0024g0008 a0001c0001t0024g0009 a0001c0001t0025g0108 a0001c0001t0025g0109 a0001c0001t0026g0113 a0001c0001t0026g0114 a0001c0001t0027g0122 a0001c0001t0027g0123 a0001c0001t0028g0254 a0001c0001t0028g0255 a0001c0001t0029g0238 a0001c0001t0029g0240 a0001c0001t0030g0242 a0001c0001t0030g0243 a0001c0001t0032g0271 a0001c0001t0033g0283 a0001c0001t0034g0206 a0001c0001t0038g0259 a0001c0001t0039g0198 a0001c0001t0040g0197 a0001c0001t0041g0248 a0001c0001t0042g0253 a0001c0001t0043g0143 a0001c0001t0044g0201 a0001c0001t0045g0030 a0001c0001t0046g0272 a0001c0001t0047g0274 a0001c0001t0049g0219 a0001c0001t0051g0106 a0001c0001t0052g0027 a0001c0001t0053g0110 a0001c0001t0054g0107 a0001c0001t0055g0002 a0001c0001t0056g0111 a0001c0001t0057g0284 a0001c0001t0058g0112 a0001c0001t0060g0115 a0001c0001t0062g0275 a0001c0001t0064g0288 a0001c0001t0065g0011 a0001c0001t0066g0230 a0001c0001t0067g0148 a0001c0001t0068g0231 a0001c0001t0069g0003 a0001c0001t0070g0270 a0001c0001t0071g0129 a0001c0001t0073g0205 a0001c0001t0075g0028 a0001c0001t0076g0029 a0001c0001t0078g0286 a0001c0001t0079g0287 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0072g0021 a0001c0003t0061g0007 a0001c0006t0074g0245 a0002c0004t0077g0105	221	292	0.7569	20	c.62- others(37): Show c.62-53639_62-53638insAAATTTAATAAAATTCTATT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F1_chr1_167215886_167432340	167278812	G G	GAATTTAA others(13): Show GAATTTAATACAATTCTATTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	292	0.0034	20	c.62- others(37): Show c.62-53649_62-53648insCAATTCTATTAAATTTAATA	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F1_chr1_167215886_167432340	167358716	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 NA18522.hp1 HG02451.hp1 HG02486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0062 a0001c0001t0005 a0001c0001t0046 a0001c0001t0062	a0001c0001t0005g0280 a0001c0001t0046g0272 a0001c0001t0062g0275 a0001c0001t0005g0280 a0001c0001t0046g0272 a0001c0001t0062g0275	3	292	0.0103	20	c.128 others(37): Show c.128-6749_128-6730dupTTTTTTTTTTTTTTTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F3_chr11_120235140_120324945	120320561	A A	ATATATAT others(13): Show ATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0246 a0001c0001t0031g0246	1	320	0.0031	20	c.21 others(31): Show c.2169_*2170insTATATATATATATATATATG	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding		617		chr11	TogoVar
POU6F2_chr7_38972909_39473601	39005484	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG02148.hp2 others(10): Show HG00738.hp1 HG01074.hp1 HG02148.hp2 HG02293.hp2 HG03453.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA19009.hp2 NA19010.hp1 NA19080.hp2 NA19087.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0008	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0005t0031 a0001c0007t0001 a0001c0007t0010 a0001c0007t0028 a0002c0003t0001 a0002c0008t0006	a0001c0001t0002g0074 a0001c0001t0002g0115 a0001c0001t0009g0123 others(10): Show a0001c0001t0002g0074 a0001c0001t0002g0115 a0001c0001t0009g0123 a0001c0002t0001g0084 a0001c0002t0001g0125 a0001c0002t0001g0154 a0001c0005t0031g0124 a0001c0007t0001g0069 a0001c0007t0001g0071 a0001c0007t0010g0044 a0001c0007t0028g0114 a0002c0003t0001g0082 a0002c0008t0006g0070	13	170	0.0765	20	c.105 others(39): Show c.105+27438_105+27457dupGTGTGTGTGTGTGTGTGTGT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar

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