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
PDZRN4_chr12_41183320_41579745	41402322	ACACACAC others(6): Show ACACACACTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0007 a0001c0032t0007	a0001c0032t0007g0206 a0001c0032t0007g0206	1	206	0.0049	-13	c.844 others(34): Show c.844-104133_844-104121delCACACACTGTGTG	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41555052	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01167.hp2 others(22): Show HG00738.hp1 HG01109.hp2 HG01167.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0015 a0019	a0001c0001 a0001c0032 a0002c0002 others(10): Show a0001c0001 a0001c0032 a0002c0002 a0002c0015 a0002c0017 a0003c0006 a0004c0003 a0004c0020 a0005c0029 a0008c0057 a0009c0021 a0015c0039 a0019c0048	a0001c0001t0001 a0001c0032t0007 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0032t0007 a0002c0002t0001 a0002c0015t0001 a0002c0017t0001 a0003c0006t0001 a0004c0003t0001 a0004c0020t0001 a0005c0029t0001 a0008c0057t0001 a0009c0021t0001 a0015c0039t0001 a0019c0048t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0084 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0032t0007g0206 a0002c0002t0001g0087 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0200 a0002c0015t0001g0146 a0002c0017t0001g0092 a0003c0006t0001g0005 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0004c0003t0001g0115 a0004c0020t0001g0153 a0005c0029t0001g0088 a0008c0057t0001g0201 a0009c0021t0001g0142 a0009c0021t0001g0143 a0015c0039t0001g0043 a0019c0048t0001g0144	25	206	0.1214	-13	c.130 others(30): Show c.1303-629_1303-617delAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77298197	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00642.hp2 others(35): Show HG00280.hp1 HG00423.hp2 HG00642.hp2 HG00738.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01975.hp1 HG02074.hp1 HG02148.hp2 HG02300.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA19005.hp2 NA19065.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0006c0007	a0001c0001t0008 a0001c0001t0028 a0001c0001t0057 others(14): Show a0001c0001t0008 a0001c0001t0028 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0002t0033 a0002c0002t0048 a0002c0002t0049 a0004c0005t0004 a0006c0007t0010	a0001c0001t0008g0054 a0001c0001t0008g0064 a0001c0001t0008g0071 others(35): Show a0001c0001t0008g0054 a0001c0001t0008g0064 a0001c0001t0008g0071 a0001c0001t0008g0087 a0001c0001t0008g0090 a0001c0001t0028g0070 a0001c0001t0057g0027 a0001c0001t0060g0035 a0001c0001t0061g0073 a0002c0002t0003g0200 a0002c0002t0003g0215 a0002c0002t0003g0236 a0002c0002t0003g0280 a0002c0002t0003g0282 a0002c0002t0003g0285 a0002c0002t0003g0292 a0002c0002t0004g0191 a0002c0002t0004g0195 a0002c0002t0004g0197 a0002c0002t0004g0198 a0002c0002t0004g0231 a0002c0002t0004g0232 a0002c0002t0004g0246 a0002c0002t0004g0283 a0002c0002t0007g0180 a0002c0002t0007g0181 a0002c0002t0012g0211 a0002c0002t0012g0286 a0002c0002t0019g0227 a0002c0002t0026g0209 a0002c0002t0027g0304 a0002c0002t0033g0220 a0002c0002t0048g0245 a0002c0002t0049g0279 a0004c0005t0004g0192 a0004c0005t0004g0194 a0004c0005t0004g0243 a0006c0007t0010g0254	38	326	0.1166	-13	c.-60 others(34): Show c.-602-11706_-602-11694delAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77391476	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0263 a0001c0001t0007g0263	1	326	0.0031	-13	c.-66 others(34): Show c.-665-26264_-665-26252delTTTTTTTTTTTTT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118142826	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03704.hp2 HG03490.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	426	0.0047	-13	c.347 others(30): Show c.347-1741_347-1729delTTTTTTTTTTTTT	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEBP4_chr8_22708251_22932914	22755326	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	278	0.0036	-13	c.358 others(32): Show c.358-28119_358-28107delAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22781125	CTCAGGTG others(6): Show CTCAGGTGTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp2 HG02895.hp2 others(4): Show HG01884.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0007 a0005c0006 others(1): Show a0002c0002 a0003c0007 a0005c0006 a0005c0032	a0002c0002t0002 a0003c0007t0004 a0005c0006t0001 others(2): Show a0002c0002t0002 a0003c0007t0004 a0005c0006t0001 a0005c0006t0002 a0005c0032t0005	a0002c0002t0002g0245 a0003c0007t0004g0243 a0005c0006t0001g0033 others(4): Show a0002c0002t0002g0245 a0003c0007t0004g0243 a0005c0006t0001g0033 a0005c0006t0001g0150 a0005c0006t0002g0244 a0005c0006t0002g0249 a0005c0032t0005g0031	7	278	0.0252	-13	c.357 others(32): Show c.357+36499_357+36511delACAGGACACCTGA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22798728	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	278	0.0036	-13	c.357 others(32): Show c.357+18896_357+18908delAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22801509	AGGGGAAA others(6): Show AGGGGAAAGTAGTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 NA20129.hp2 HG02572.hp1 NA19043.hp1 NA20129.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0002c0021 a0017c0026 a0002c0002 a0002c0021 a0017c0026	a0002c0002t0002 a0002c0021t0002 a0017c0026t0002 a0002c0002t0002 a0002c0021t0002 a0017c0026t0002	a0002c0002t0002g0230 a0002c0021t0002g0240 a0017c0026t0002g0238 a0002c0002t0002g0230 a0002c0021t0002g0240 a0017c0026t0002g0238	3	278	0.0108	-13	c.357 others(32): Show c.357+16115_357+16127delAACTACTTTCCCC	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64353331	ACACACAC others(6): Show ACACACACACAACT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0280 a0003c0005t0001g0280	1	288	0.0035	-13	c.191 others(30): Show c.1916+147_1916+159delAGTTGTGTGTGTG	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	10/15			chr17	TogoVar
PECR_chr2_216033388_216086809	216061311	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG00280.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	398	0.0050	-13	c.425 others(30): Show c.425-2348_425-2336delTTTTTTTTTTTTT	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	3/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216068804	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp2 HG03579.hp2 others(1): Show HG02109.hp1 HG03486.hp2 HG03579.hp2 NA20752.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0011 a0004c0005 a0010c0012 a0001c0011 a0004c0005 a0010c0012	a0001c0011t0006 a0004c0005t0009 a0010c0012t0003 a0001c0011t0006 a0004c0005t0009 a0010c0012t0003	a0001c0011t0006g0383 a0004c0005t0009g0217 a0004c0005t0009g0381 others(1): Show a0001c0011t0006g0383 a0004c0005t0009g0217 a0004c0005t0009g0381 a0010c0012t0003g0215	4	398	0.0101	-13	c.125 others(30): Show c.125-2299_125-2287delAAAAAAAAAAAAA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	1/7			chr2	TogoVar
PEG3_chr19_56805082_56845726	56824946	CGGCTACT others(6): Show CGGCTACTAACTTG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0090 a0001c0003t0003g0090	1	416	0.0024	-13	c.-86 others(28): Show c.-86-218_-86-206delCAAGTTAGTAGCC	PEG3	ENSG00000198300.14	transcript	ENST00000326441.15	protein_coding	3/9			chr19	TogoVar
PELI1_chr2_64087652_64149420	64110247	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01261.hp2 others(25): Show HG01167.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG03579.hp2 NA18960.hp1 NA19043.hp2 NA19060.hp1 NA19063.hp2 NA19067.hp2 NA19089.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026	a0001c0001t0003g0036 a0001c0001t0003g0231 a0001c0001t0003g0232 others(24): Show a0001c0001t0003g0036 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0005g0161 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0008g0101 a0001c0001t0008g0108 a0001c0001t0009g0188 a0001c0001t0009g0214 a0001c0001t0011g0037 a0001c0001t0012g0039 a0001c0001t0015g0194 a0001c0001t0016g0162 a0001c0001t0022g0239 a0001c0001t0023g0243 a0001c0001t0026g0244	28	304	0.0921	-13	c.-69 others(30): Show c.-69-1881_-69-1869delTTTTTTTTTTTTT	PELI1	ENSG00000197329.12	transcript	ENST00000358912.5	protein_coding	1/6			chr2	TogoVar
PELI1_chr2_64087652_64149420	64129663	AAGACCAT others(6): Show AAGACCATTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0037 a0001c0001t0011g0037	1	304	0.0033	-13	c.-70 others(32): Show c.-70+14405_-70+14417delAAAAGAATGGTCT	PELI1	ENSG00000197329.12	transcript	ENST00000358912.5	protein_coding	1/6			chr2	TogoVar
PELI2_chr14_56113411_56306524	56263370	TGAAGAAA others(6): Show TGAAGAAATTACCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp2 HG03139.hp1 others(3): Show HG02257.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0072 a0001c0001t0005g0091 a0001c0001t0005g0092 others(3): Show a0001c0001t0005g0072 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0108 a0001c0001t0009g0165	6	368	0.0163	-13	c.208 others(32): Show c.208-16300_208-16288delAATTACCAGAAGA	PELI2	ENSG00000139946.11	transcript	ENST00000267460.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
PELI3_chr11_66461905_66482337	66469789	CTGTTTTT others(6): Show CTGTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	396	0.0025	-13	c.224 others(28): Show c.224+900_224+912delGTTTTTTTTTTTT	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
PELP1_chr17_4664774_4709137	4668935	ATATATAT others(6): Show ATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01071.hp1 others(30): Show HG00597.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01167.hp1 HG01192.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02056.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03453.hp2 NA18612.hp1 NA18906.hp1 NA18961.hp1 NA18968.hp2 NA18979.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19083.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0009 a0003c0005t0001 a0001c0001t0001 a0001c0001t0009 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0009g0160 a0003c0005t0001g0169 a0003c0005t0001g0184 a0003c0005t0001g0190 a0003c0005t0001g0193	33	316	0.1044	-13	c.24 others(24): Show c.2491_*2503delATATATATATATA	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		838		chr17	TogoVar
PELP1_chr17_4664774_4709137	4668940	TATATATA others(6): Show TATATATATCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01361.hp2 HG02647.hp1 others(4): Show HG00597.hp1 HG01361.hp2 HG02647.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0159 a0001c0001t0001g0285 a0001c0001t0009g0177 a0001c0001t0012g0154 a0001c0001t0012g0179	7	316	0.0222	-13	c.24 others(24): Show c.2486_*2498delGTGTGATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		833		chr17	TogoVar
PELP1_chr17_4664774_4709137	4668969	TATATATA others(6): Show TATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0007 a0004c0018t0007	a0004c0018t0007g0022 a0004c0018t0007g0022	1	316	0.0032	-13	c.24 others(24): Show c.2457_*2469delTATATATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		804		chr17	TogoVar
PELP1_chr17_4664774_4709137	4668971	TATATATA others(6): Show TATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0037 a0001c0002t0007g0037	1	316	0.0032	-13	c.24 others(24): Show c.2455_*2467delTATATATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		802		chr17	TogoVar
PELP1_chr17_4664774_4709137	4707001	GCGATCTT others(6): Show GCGATCTTGGCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0030 a0001c0002t0005g0030	1	316	0.0032	-13	c.-29 others(24): Show c.-2903_-2891delTGAGCCAAGATCG	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		2865		chr17	TogoVar
PEMT_chr17_17500563_17596708	17586276	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	348	0.0029	-13	c.96+ others(28): Show c.96+5242_96+5254delTCTTTCTTTCTTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PER3_chr1_7779291_7850177	7789840	ATGTCATC others(6): Show ATGTCATCCCTGCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0160 a0001c0004t0002g0160	1	410	0.0024	-13	c.592 others(30): Show c.592+1597_592+1609delTCATCCCTGCTTG	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806807	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	410	0.0024	-13	c.113 others(32): Show c.1137-2084_1137-2072delAAAAATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX13_chr2_61012720_61056990	61033975	TTTTTTTT others(6): Show TTTTTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp1 others(10): Show HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0005 a0001c0001t0002g0032 others(3): Show a0001c0001t0001g0005 a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0100 a0001c0001t0002g0109 a0001c0001t0002g0180	13	354	0.0367	-13	c.787 others(30): Show c.787+1869_787+1881delTGTTTTGTTTTTT	PEX13	ENSG00000162928.9	transcript	ENST00000295030.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
PEX14_chr1_10469950_10635758	10577554	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 NA19063.hp1 HG03486.hp2 HG03540.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0025 a0002c0005t0001g0206 a0001c0001t0001g0003 a0001c0001t0001g0025 a0002c0005t0001g0206	3	258	0.0116	-13	c.170 others(32): Show c.170-21682_170-21670delATATATATTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577556	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 homoSapiens_chm13v2.hp1 HG00099.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0010 a0001c0004t0001g0009 a0001c0001t0001g0010 a0001c0004t0001g0009	2	258	0.0078	-13	c.170 others(32): Show c.170-21680_170-21668delATATATTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577558	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	258	0.0039	-13	c.170 others(32): Show c.170-21678_170-21666delATATTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577560	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	258	0.0039	-13	c.170 others(32): Show c.170-21676_170-21664delATTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577562	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04204.hp1 HG00423.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0092 a0001c0003t0001g0062 a0001c0003t0001g0092	2	258	0.0078	-13	c.170 others(32): Show c.170-21640_170-21628delTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10586628	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG02055.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0179 a0001c0001t0001g0093 a0001c0001t0001g0179	2	258	0.0078	-13	c.170 others(32): Show c.170-12593_170-12581delTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX2_chr8_76975258_77005078	76997021	GAAATCTT others(6): Show GAAATCTTTTTCCC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0083 a0001c0002t0005g0083	1	412	0.0024	-13	c.-16 others(32): Show c.-160+2956_-160+2968delGGGAAAAAGATTT	PEX2	ENSG00000164751.15	transcript	ENST00000357039.9	protein_coding	1/3			chr8	TogoVar
PEX5L_chr3_179789958_180041937	179812576	TAAGTTGG others(6): Show TAAGTTGGTTGCAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0073 a0001c0001t0092g0073	1	220	0.0046	-13	c.108 others(30): Show c.1084-718_1084-706delTTGCAACCAACTT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	10/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	179874726	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG06807.hp1 HG00733.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0071 a0001c0001t0035 a0001c0001t0071	a0001c0001t0035g0056 a0001c0001t0071g0064 a0001c0001t0035g0056 a0001c0001t0071g0064	2	220	0.0091	-13	c.630 others(28): Show c.630-316_630-304delACAAAAAAAAAAA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	6/14			chr3	TogoVar
PEX6_chr6_42958865_42984181	42977768	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp1 others(62): Show HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02109.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02683.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18969.hp1 NA18980.hp1 NA18982.hp2 NA18999.hp1 NA19000.hp2 NA19011.hp2 NA19030.hp1 NA19062.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2	a0001 a0016 a0001 a0016	a0001c0003 a0016c0024 a0001c0003 a0016c0024	a0001c0003t0003 a0016c0024t0003 a0001c0003t0003 a0016c0024t0003	a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0008 others(29): Show a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0008 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0143 a0016c0024t0003g0158	65	378	0.1720	-13	c.882 others(28): Show c.882+488_882+500delTTTTTTTTTTTTT	PEX6	ENSG00000124587.14	transcript	ENST00000304611.13	protein_coding	1/16			chr6	TogoVar
PF4V1_chr4_73848296_73859483	73855109	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-13	c.98 others(23): Show c.988_*1000delTTTTTTTTTTTTG	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		627		chr4	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA20129.hp2 HG02630.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	2	366	0.0055	-13	c.-22 others(22): Show c.-224_-212delTTTTTTTTTTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		138		chr4	TogoVar
PFAS_chr17_8244289_8275486	8267892	AATATATA others(6): Show AATATATATTATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(19): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02698.hp2 HG02738.hp1 HG03239.hp2 HG04204.hp2 NA18950.hp2 NA18973.hp2 NA19011.hp2 NA20752.hp2	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0010 a0012	a0001c0001 a0004c0004 a0008c0007 others(2): Show a0001c0001 a0004c0004 a0008c0007 a0010c0011 a0012c0010	a0001c0001t0001 a0004c0004t0003 a0008c0007t0003 others(3): Show a0001c0001t0001 a0004c0004t0003 a0008c0007t0003 a0008c0007t0020 a0010c0011t0003 a0012c0010t0003	a0001c0001t0001g0036 a0004c0004t0003g0007 a0004c0004t0003g0025 others(8): Show a0001c0001t0001g0036 a0004c0004t0003g0007 a0004c0004t0003g0025 a0008c0007t0003g0018 a0008c0007t0003g0072 a0008c0007t0003g0075 a0008c0007t0020g0018 a0010c0011t0003g0007 a0010c0011t0003g0074 a0012c0010t0003g0007 a0012c0010t0003g0078	22	388	0.0567	-13	c.338 others(30): Show c.3382+247_3382+259delATTATTTATATAT	PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
PFDN1_chr5_140240035_140308101	140256658	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02647.hp1 others(7): Show HG02258.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0096 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	10	330	0.0303	-13	c.286 others(32): Show c.286-10614_286-10602delTTTTTTTTTTTTT	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFDN1_chr5_140240035_140308101	140280001	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0133 a0001c0001t0012g0133	1	330	0.0030	-13	c.285 others(30): Show c.285+1435_285+1447delGTTTTTTTTTTTT	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFDN2_chr1_161095561_161123037	161103683	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01168.hp2 others(4): Show HG00438.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG02738.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0107	7	370	0.0189	-13	c.76- others(28): Show c.76-1321_76-1309delTTTTTTTTTTTTT	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding	1/3			chr1	TogoVar
PFKFB1_chrX_54927961_54999188	54954959	TTTCACTT others(6): Show TTTCACTTACATCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	222	0.0045	-13	c.638 others(30): Show c.638+1181_638+1193delGGATGTAAGTGAA	PFKFB1	ENSG00000158571.11	transcript	ENST00000375006.8	protein_coding	7/13			chrX	TogoVar
PFKFB3_chr10_6197932_6240532	6200673	GGGCGGGG others(6): Show GGGCGGGGGGTGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	432	0.0023	-13	c.-25 others(24): Show c.-2587_-2575delGGCGGGGGGTGGT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding		2258		chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6238477	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(138): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0042 a0001c0001t0050 a0001c0001t0051 a0001c0001t0074 a0001c0001t0076 a0001c0001t0082 a0001c0001t0085 a0001c0001t0087 a0001c0002t0015 a0001c0002t0035 a0001c0003t0001 a0001c0003t0012 a0001c0003t0019 a0001c0005t0001 a0001c0006t0001 a0004c0008t0054	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0362 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0003g0329 a0001c0001t0004g0149 a0001c0001t0004g0286 a0001c0001t0009g0023 a0001c0001t0009g0059 a0001c0001t0009g0093 a0001c0001t0009g0122 a0001c0001t0009g0190 a0001c0001t0009g0218 a0001c0001t0009g0257 a0001c0001t0009g0296 a0001c0001t0009g0403 a0001c0001t0012g0079 a0001c0001t0012g0113 a0001c0001t0012g0114 a0001c0001t0012g0128 a0001c0001t0012g0138 a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0015g0195 a0001c0001t0015g0209 a0001c0001t0015g0232 a0001c0001t0015g0330 a0001c0001t0015g0411 a0001c0001t0019g0217 a0001c0001t0020g0157 a0001c0001t0020g0283 a0001c0001t0020g0376 a0001c0001t0020g0394 a0001c0001t0022g0009 a0001c0001t0022g0258 a0001c0001t0022g0337 a0001c0001t0023g0084 a0001c0001t0023g0169 a0001c0001t0031g0054 a0001c0001t0031g0074 a0001c0001t0032g0168 a0001c0001t0032g0174 a0001c0001t0036g0078 a0001c0001t0036g0346 a0001c0001t0042g0273 a0001c0001t0042g0274 a0001c0001t0050g0341 a0001c0001t0051g0175 a0001c0001t0074g0165 a0001c0001t0076g0213 a0001c0001t0082g0132 a0001c0001t0085g0131 a0001c0001t0087g0415 a0001c0002t0015g0230 a0001c0002t0035g0025 a0001c0003t0001g0003 a0001c0003t0001g0352 a0001c0003t0001g0413 a0001c0003t0001g0414 a0001c0003t0012g0291 a0001c0003t0019g0280 a0001c0003t0019g0292 a0001c0003t0019g0410 a0001c0005t0001g0166 a0001c0005t0001g0184 a0001c0006t0001g0302 a0004c0008t0054g0308	141	432	0.3264	-13	c.55 others(24): Show c.5536_*5548delAAAAAAAAAAAAA	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding		2946		chr10	TogoVar
PFKL_chr21_44295053_44332373	44300295	GCCCGGCC others(6): Show GCCCGGCCTCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02486.hp1 others(9): Show HG01884.hp2 HG02055.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG03041.hp1 HG03453.hp2 NA19005.hp2 NA19012.hp2 NA19063.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0302 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0002t0001g0309 a0001c0002t0002g0308	12	392	0.0306	-13	c.85+ others(26): Show c.85+129_85+141delCGCCCCGGCCTCC	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKL_chr21_44295053_44332373	44300319	CGCCCCGG others(6): Show CGCCCCGGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01070.hp2 others(10): Show HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01361.hp1 HG02040.hp1 HG03239.hp2 HG03492.hp1 HG03688.hp1 HG03942.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0301 a0002c0003t0001g0021 a0002c0003t0001g0292 others(8): Show a0001c0001t0001g0301 a0002c0003t0001g0021 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300	13	392	0.0332	-13	c.85+ others(26): Show c.85+137_85+149delCCTCCTGCCCCGG	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKM_chr12_48114364_48151404	48129210	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp1 HG03209.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0196 a0002c0003t0001g0197 a0001c0001t0001g0196 a0002c0003t0001g0197	2	412	0.0049	-13	c.86- others(28): Show c.86-1132_86-1120delTTTTTTTTTTTTT	PFKM	ENSG00000152556.17	transcript	ENST00000359794.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKM_chr12_48114364_48151404	48137036	AAGCTACT others(6): Show AAGCTACTGGGCCC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0126 a0001c0004t0001g0126	1	412	0.0024	-13	c.937 others(28): Show c.937-681_937-669delTACTGGGCCCAGC	PFKM	ENSG00000152556.17	transcript	ENST00000359794.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3064908	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0400 a0001c0026t0001g0400	1	402	0.0025	-13	c.-26 others(24): Show c.-2687_-2675delAAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		2639		chr10	TogoVar

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