Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCDHGB7_chr5_141412677_141517975	141454796	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19005.hp2 HG02647.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0071 a0001c0001t0007g0047 a0001c0001t0002g0071 a0001c0001t0007g0047	2	306	0.0065	18	c.241 others(39): Show c.2415+34534_2415+34551dupTTTTTTTTTTTTTTTTTT	PCDHGB7	ENSG00000254122.3	transcript	ENST00000398594.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCED1B_chr12_47074621_47241660	47089461	C C	CATGTATA others(11): Show CATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01175.hp2 others(3): Show HG00642.hp2 HG01074.hp2 HG01175.hp2 HG01975.hp2 NA18942.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 others(3): Show a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0002t0001g0164	6	322	0.0186	18	c.-60 others(37): Show c.-609+9738_-609+9739insGTATATATATATATATAT	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCED1B_chr12_47074621_47241660	47217458	A A	AAAAGAAA others(11): Show AAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	322	0.0031	18	c.-58 others(33): Show c.-58+778_-58+779insGAAAGAAAGAAAGAAAGA	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	713296	A A	ATGGGTCT others(11): Show ATGGGTCTTGTGTGCCTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	18	c.-19 others(37): Show c.-190+7330_-190+7331insTCTTGTGTGCCTTGTGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91271103	T T	TATATATA others(11): Show TATATATATATATAATCTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02055.hp1 others(14): Show HG00735.hp1 HG01243.hp1 HG02055.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0021 a0001c0001t0004 a0001c0001t0020 a0001c0001t0021	a0001c0001t0004g0020 a0001c0001t0004g0175 a0001c0001t0004g0177 others(13): Show a0001c0001t0004g0020 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0020g0176 a0001c0001t0021g0174	17	318	0.0535	18	c.664 others(33): Show c.664-523_664-506dupTAATCTAATATATATATA	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCGF6_chr10_103297796_103356140	103302452	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	372	0.0027	18	c.14 others(29): Show c.1452_*1453insAAAAAAAAAAAAAAAAAA	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding		343		chr10	TogoVar
PCGF6_chr10_103297796_103356140	103312959	T T	TCAAAAAC others(11): Show TCAAAAACAAAAACAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0021 a0002c0002t0004g0021	1	372	0.0027	18	c.996 others(35): Show c.996+1209_996+1226dupTTTTTGTTTTTGTTTTTG	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding	9/9			chr10	TogoVar
PCLAF_chr15_64359304_64386441	64377488	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	298	0.0034	18	c.128 others(33): Show c.128-584_128-583insATATTTTTTTTTTTTTTT	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	2/3			chr15	TogoVar
PCLAF_chr15_64359304_64386441	64377488	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA20752.hp2 HG04228.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0116 a0001c0001t0001g0175	2	298	0.0067	18	c.128 others(33): Show c.128-584_128-583insATATATTTTTTTTTTTTT	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	2/3			chr15	TogoVar
PCLO_chr7_82749012_83167884	82751447	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0040 a0040	a0040c0045 a0040c0045	a0040c0045t0008 a0040c0045t0008	a0040c0045t0008g0080 a0040c0045t0008g0080	1	188	0.0053	18	c.71 others(29): Show c.7127_*7128insTTTTTTTTTTTTTTTTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding		2564		chr7	TogoVar
PCLO_chr7_82749012_83167884	82794450	A A	ATTTTTTT others(11): Show ATTTTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18981.hp2 NA19070.hp1 HG03688.hp1 NA18981.hp2 NA19070.hp1	a0005 a0027 a0005 a0027	a0005c0005 a0027c0088 a0005c0005 a0027c0088	a0005c0005t0001 a0027c0088t0001 a0005c0005t0001 a0027c0088t0001	a0005c0005t0001g0159 a0005c0005t0001g0168 a0027c0088t0001g0156 a0005c0005t0001g0159 a0005c0005t0001g0168 a0027c0088t0001g0156	3	188	0.0160	18	c.150 others(39): Show c.15007+7067_15007+7068insAAAAAAAAGAAAAAAAAA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82794459	C C	CTGTTTTT others(11): Show CTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp1 NA18522.hp1 NA18906.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0013 a0012c0009t0013	a0012c0009t0013g0033 a0012c0009t0013g0034 a0012c0009t0013g0033 a0012c0009t0013g0034	2	188	0.0106	18	c.150 others(39): Show c.15007+7058_15007+7059insAAAAAAAAAAAAAAAACA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82876455	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp1 NA18522.hp1 others(1): Show HG03195.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp1	a0001 a0012 a0053 a0001 a0012 a0053	a0001c0003 a0012c0009 a0053c0061 a0001c0003 a0012c0009 a0053c0061	a0001c0003t0017 a0012c0009t0013 a0053c0061t0017 a0001c0003t0017 a0012c0009t0013 a0053c0061t0017	a0001c0003t0017g0115 a0012c0009t0013g0033 a0012c0009t0013g0034 others(1): Show a0001c0003t0017g0115 a0012c0009t0013g0033 a0012c0009t0013g0034 a0053c0061t0017g0116	4	188	0.0213	18	c.136 others(39): Show c.13654+2864_13654+2881dupGTGTGTGTGTGTGTGTGT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	10/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82968517	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0067 a0067	a0067c0099 a0067c0099	a0067c0099t0003 a0067c0099t0003	a0067c0099t0003g0081 a0067c0099t0003g0081	1	188	0.0053	18	c.330 others(37): Show c.3301-2048_3301-2031dupAAAAAAAAAAAAAAAAAA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999779	T T	TTATATAT others(11): Show TTATATATAAAATATAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0067 a0067	a0067c0099 a0067c0099	a0067c0099t0003 a0067c0099t0003	a0067c0099t0003g0081 a0067c0099t0003g0081	1	188	0.0053	18	c.330 others(39): Show c.3301-33293_3301-33292insTTTTATATTTTATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83019823	T T	TGGGGCAA others(11): Show TGGGGCAAAGACTGAAGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0004 a0008c0026t0004	a0008c0026t0004g0056 a0008c0026t0004g0056	1	188	0.0053	18	c.330 others(39): Show c.3301-53354_3301-53337dupTGCTTCAGTCTTTGCCCC	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83037989	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20300.hp2 NA19043.hp2 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0002 a0006c0014 a0004c0002 a0006c0014	a0004c0002t0031 a0006c0014t0005 a0004c0002t0031 a0006c0014t0005	a0004c0002t0031g0014 a0006c0014t0005g0042 a0004c0002t0031g0014 a0006c0014t0005g0042	2	188	0.0106	18	c.330 others(39): Show c.3301-71520_3301-71503dupTATATATATATATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83050221	A A	AAAAAAAA others(11): Show AAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0064 a0002c0064	a0002c0064t0009 a0002c0064t0009	a0002c0064t0009g0031 a0002c0064t0009g0031	1	188	0.0053	18	c.330 others(39): Show c.3301-83735_3301-83734insGTTTTTGTTTTTTTTTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83050221	A A	AAAAAACA others(11): Show AAAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0061 a0061	a0061c0081 a0061c0081	a0061c0081t0015 a0061c0081t0015	a0061c0081t0015g0003 a0061c0081t0015g0003	1	188	0.0053	18	c.330 others(39): Show c.3301-83735_3301-83734insGTTTTTGTTTTTGTTTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83050221	A A	AACAAAAA others(11): Show AACAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0056 a0056	a0056c0052 a0056c0052	a0056c0052t0006 a0056c0052t0006	a0056c0052t0006g0112 a0056c0052t0006g0112	1	188	0.0053	18	c.330 others(39): Show c.3301-83735_3301-83734insGTTTTTGTTTTTTTTTGT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83050227	A A	AAAAAAAA others(11): Show AAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp1 HG03540.hp1 HG02723.hp1 HG03453.hp1 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0018 a0006c0042 a0001c0001 a0001c0018 a0006c0042	a0001c0001t0006 a0001c0018t0011 a0006c0042t0006 a0001c0001t0006 a0001c0018t0011 a0006c0042t0006	a0001c0001t0006g0179 a0001c0018t0011g0183 a0006c0042t0006g0035 a0001c0001t0006g0179 a0001c0018t0011g0183 a0006c0042t0006g0035	3	188	0.0160	18	c.330 others(39): Show c.3301-83741_3301-83740insGTTTTTGTTTTTTTTTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83050227	A A	AAAAAACA others(11): Show AAAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp1 HG02056.hp1 others(12): Show HG00621.hp2 HG00741.hp1 HG02056.hp1 HG02145.hp2 HG02165.hp1 HG02602.hp2 HG02723.hp2 HG03491.hp2 HG03927.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18981.hp1 NA19070.hp2 NA19088.hp1	a0001 a0002 a0010 others(4): Show a0001 a0002 a0010 a0012 a0024 a0035 a0070	a0001c0001 a0001c0066 a0001c0067 others(7): Show a0001c0001 a0001c0066 a0001c0067 a0002c0004 a0002c0063 a0010c0093 a0012c0009 a0024c0025 a0035c0043 a0070c0103	a0001c0001t0002 a0001c0001t0004 a0001c0066t0006 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0066t0006 a0001c0067t0002 a0002c0004t0004 a0002c0004t0007 a0002c0063t0001 a0010c0093t0007 a0012c0009t0013 a0024c0025t0009 a0035c0043t0004 a0070c0103t0009	a0001c0001t0002g0015 a0001c0001t0004g0092 a0001c0066t0006g0124 others(12): Show a0001c0001t0002g0015 a0001c0001t0004g0092 a0001c0066t0006g0124 a0001c0067t0002g0102 a0002c0004t0004g0145 a0002c0004t0007g0085 a0002c0004t0007g0141 a0002c0063t0001g0128 a0010c0093t0007g0171 a0012c0009t0013g0033 a0012c0009t0013g0034 a0012c0009t0013g0126 a0024c0025t0009g0064 a0035c0043t0004g0044 a0070c0103t0009g0065	15	188	0.0798	18	c.330 others(39): Show c.3301-83741_3301-83740insGTTTTTGTTTTTGTTTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83057317	C C	CATATACA others(11): Show CATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0054 a0054	a0054c0065 a0054c0065	a0054c0065t0020 a0054c0065t0020	a0054c0065t0020g0098 a0054c0065t0020g0098	1	188	0.0053	18	c.330 others(39): Show c.3300+76932_3300+76933insATATATATATATGTATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83057348	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0097 a0003c0097	a0003c0097t0002 a0003c0097t0002	a0003c0097t0002g0175 a0003c0097t0002g0175	1	188	0.0053	18	c.330 others(39): Show c.3300+76901_3300+76902insAATATATATATATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83057348	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0031 a0004c0002t0031	a0004c0002t0031g0014 a0004c0002t0031g0014	1	188	0.0053	18	c.330 others(39): Show c.3300+76901_3300+76902insAAAATATATATATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83059357	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0001 a0002c0063t0001	a0002c0063t0001g0128 a0002c0063t0001g0128	1	188	0.0053	18	c.330 others(39): Show c.3300+74875_3300+74892dupATATATATATATATATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83069799	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	188	0.0053	18	c.330 others(39): Show c.3300+64433_3300+64450dupTGTGTGTGTGTGTGTGTG	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83078519	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00735.hp1 others(26): Show HG00099.hp2 HG00544.hp2 HG00735.hp1 HG00741.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02559.hp1 HG02738.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18963.hp1 NA18984.hp2 NA18988.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0004 others(14): Show a0001 a0002 a0004 a0005 a0006 a0011 a0017 a0042 a0045 a0050 a0051 a0052 a0053 a0059 a0062 a0063 a0068	a0001c0001 a0001c0003 a0002c0007 others(17): Show a0001c0001 a0001c0003 a0002c0007 a0004c0002 a0005c0005 a0006c0028 a0011c0027 a0011c0040 a0017c0041 a0017c0110 a0042c0037 a0045c0075 a0050c0054 a0051c0057 a0052c0056 a0053c0061 a0059c0051 a0062c0106 a0063c0107 a0068c0101	a0001c0001t0001 a0001c0001t0018 a0001c0003t0017 others(18): Show a0001c0001t0001 a0001c0001t0018 a0001c0003t0017 a0002c0007t0001 a0004c0002t0001 a0005c0005t0001 a0006c0028t0018 a0011c0027t0001 a0011c0040t0001 a0017c0041t0024 a0017c0110t0004 a0042c0037t0008 a0045c0075t0003 a0050c0054t0001 a0051c0057t0001 a0052c0056t0003 a0053c0061t0017 a0059c0051t0003 a0062c0106t0001 a0063c0107t0004 a0068c0101t0001	a0001c0001t0001g0148 a0001c0001t0018g0144 a0001c0003t0017g0115 others(26): Show a0001c0001t0001g0148 a0001c0001t0018g0144 a0001c0003t0017g0115 a0002c0007t0001g0135 a0004c0002t0001g0016 a0004c0002t0001g0019 a0004c0002t0001g0083 a0004c0002t0001g0095 a0004c0002t0001g0096 a0004c0002t0001g0106 a0005c0005t0001g0170 a0005c0005t0001g0172 a0005c0005t0001g0174 a0006c0028t0018g0047 a0011c0027t0001g0046 a0011c0027t0001g0048 a0011c0040t0001g0043 a0017c0041t0024g0076 a0017c0110t0004g0049 a0042c0037t0008g0075 a0045c0075t0003g0138 a0050c0054t0001g0129 a0051c0057t0001g0103 a0052c0056t0003g0101 a0053c0061t0017g0116 a0059c0051t0003g0123 a0062c0106t0001g0069 a0063c0107t0004g0068 a0068c0101t0001g0054	29	188	0.1543	18	c.330 others(39): Show c.3300+55730_3300+55731insAATAATAATAATAATAAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093472	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02572.hp2 others(3): Show HG01884.hp1 HG02257.hp1 HG02572.hp2 HG02723.hp1 HG02886.hp2 HG03453.hp1	a0001 a0006 a0021 others(2): Show a0001 a0006 a0021 a0056 a0058	a0001c0001 a0006c0042 a0021c0020 others(2): Show a0001c0001 a0006c0042 a0021c0020 a0056c0052 a0058c0068	a0001c0001t0006 a0006c0042t0006 a0021c0020t0014 others(2): Show a0001c0001t0006 a0006c0042t0006 a0021c0020t0014 a0056c0052t0006 a0058c0068t0006	a0001c0001t0006g0179 a0001c0001t0006g0180 a0006c0042t0006g0035 others(3): Show a0001c0001t0006g0179 a0001c0001t0006g0180 a0006c0042t0006g0035 a0021c0020t0014g0030 a0056c0052t0006g0112 a0058c0068t0006g0181	6	188	0.0319	18	c.330 others(39): Show c.3300+40777_3300+40778insTATATATATACACACACA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093472	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0061 a0061	a0061c0081 a0061c0081	a0061c0081t0015 a0061c0081t0015	a0061c0081t0015g0003 a0061c0081t0015g0003	1	188	0.0053	18	c.330 others(39): Show c.3300+40777_3300+40778insTATATATACACACACACA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093472	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02896.hp1 others(3): Show HG01243.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG03654.hp2 HG03704.hp1	a0001 a0042 a0001 a0042	a0001c0001 a0001c0003 a0001c0019 others(1): Show a0001c0001 a0001c0003 a0001c0019 a0042c0037	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0019t0003 a0042c0037t0008	a0001c0001t0002g0107 a0001c0001t0005g0109 a0001c0001t0005g0125 others(3): Show a0001c0001t0002g0107 a0001c0001t0005g0109 a0001c0001t0005g0125 a0001c0003t0002g0104 a0001c0019t0003g0132 a0042c0037t0008g0075	6	188	0.0319	18	c.330 others(39): Show c.3300+40777_3300+40778insTATATACACACACACACA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093492	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0144 a0001c0001t0018g0144	1	188	0.0053	18	c.330 others(39): Show c.3300+40740_3300+40757dupAAAAAAAAAAAAAAAAAA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83096963	T T	TATATTAT others(11): Show TATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG03139.hp1 others(4): Show HG01243.hp1 HG02486.hp1 HG03139.hp1 HG03540.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0001 a0019 a0034 others(4): Show a0001 a0019 a0034 a0038 a0040 a0043 a0044	a0001c0001 a0019c0079 a0034c0049 others(4): Show a0001c0001 a0019c0079 a0034c0049 a0038c0046 a0040c0045 a0043c0035 a0044c0078	a0001c0001t0001 a0019c0079t0002 a0034c0049t0002 others(4): Show a0001c0001t0001 a0019c0079t0002 a0034c0049t0002 a0038c0046t0010 a0040c0045t0008 a0043c0035t0002 a0044c0078t0002	a0001c0001t0001g0148 a0019c0079t0002g0114 a0034c0049t0002g0061 others(4): Show a0001c0001t0001g0148 a0019c0079t0002g0114 a0034c0049t0002g0061 a0038c0046t0010g0039 a0040c0045t0008g0080 a0043c0035t0002g0058 a0044c0078t0002g0136	7	188	0.0372	18	c.330 others(39): Show c.3300+37286_3300+37287insTTATATAATATATAATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCM1_chr8_17917988_18034948	17927124	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG03834.hp2 HG02698.hp2 HG03017.hp2 HG03834.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0022 a0010c0014t0023 a0010c0014t0022 a0010c0014t0023	a0010c0014t0022g0330 a0010c0014t0022g0331 a0010c0014t0023g0354 a0010c0014t0022g0330 a0010c0014t0022g0331 a0010c0014t0023g0354	3	368	0.0082	18	c.-23 others(35): Show c.-23+2346_-23+2363dupTTTTTTTTTTTTTTTTTT	PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr8	TogoVar
PCMT1_chr6_149744741_149816419	149769308	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02970.hp2 HG00733.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0212 a0001c0001t0009g0146 a0001c0001t0001g0212 a0001c0001t0009g0146	2	334	0.0060	18	c.56- others(33): Show c.56-1847_56-1830dupTTTTTTTTTTTTTTTTTT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCMTD2_chr20_64250748_64281226	64255723	A A	AGGCGGCG others(11): Show AGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG01169.hp1 others(1): Show HG00099.hp1 HG01168.hp1 HG01169.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0007 a0001c0001t0009g0007 a0001c0001t0005g0007 a0001c0001t0009g0007	4	332	0.0121	18	c.-17 others(27): Show c.-172_-171insGGCGGCGGCGGCGGCGGC	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding		24		chr20	TogoVar
PCNP_chr3_101569180_101599465	101573112	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01123.hp2 others(12): Show HG00733.hp1 HG01106.hp2 HG01123.hp2 HG01993.hp1 HG02145.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp1 HG03239.hp2 HG03654.hp2 HG03927.hp1 HG04228.hp1 NA18990.hp2 NA18998.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0226 a0001c0001t0002g0003 a0001c0001t0002g0065 a0001c0001t0002g0237 a0001c0001t0002g0239	15	424	0.0354	18	c.-11 others(29): Show c.-1104_-1103insACACACACACACACACAC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding		1067		chr3	TogoVar
PCNP_chr3_101569180_101599465	101595787	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02155.hp2 NA18946.hp2 others(10): Show HG02071.hp2 HG02155.hp2 NA18946.hp2 NA18947.hp2 NA18973.hp2 NA18974.hp1 NA18982.hp2 NA18983.hp1 NA18993.hp2 NA18995.hp2 NA19009.hp2 NA19064.hp1 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0003 a0001c0001t0001 a0001c0001t0003 a0003c0004t0003	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0054 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0044 a0001c0001t0003g0160 a0003c0004t0003g0163	13	424	0.0307	18	c.30 others(29): Show c.3034_*3035insTTTTTTTTTTTTTTTTTT	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding		1323		chr3	TogoVar
PCNT_chr21_46319156_46450769	46359480	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02074.hp2 NA18999.hp1 others(2): Show HG01361.hp2 HG02074.hp2 NA18999.hp1 NA19007.hp2 NA19064.hp1	a0001 a0002 a0051 a0001 a0002 a0051	a0001c0001 a0002c0022 a0051c0067 a0001c0001 a0002c0022 a0051c0067	a0001c0001t0001 a0002c0022t0001 a0051c0067t0001 a0001c0001t0001 a0002c0022t0001 a0051c0067t0001	a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0273 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0273 a0002c0022t0001g0247 a0051c0067t0001g0316	5	332	0.0151	18	c.215 others(37): Show c.2154+2299_2154+2300insTTTTTTTTTTTTTTTTTT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70910070	T T	TCCCCCTC others(11): Show TCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp2 HG03453.hp2 HG01192.hp1 HG02602.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0028 a0001c0010t0071 a0001c0010t0072 a0001c0001t0028 a0001c0010t0071 a0001c0010t0072	a0001c0001t0028g0127 a0001c0010t0071g0351 a0001c0010t0072g0350 a0001c0001t0028g0127 a0001c0010t0071g0351 a0001c0010t0072g0350	3	352	0.0085	18	c.153 others(35): Show c.153+2069_153+2070insCCCTCCTCCTCCTCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910148	T T	TCCCCCTC others(11): Show TCCCCCTCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	352	0.0028	18	c.153 others(35): Show c.153+2147_153+2148insCCCTCCTCCCCCTCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910154	C C	CCCTCCTC others(11): Show CCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG03209.hp2 others(3): Show HG02559.hp1 HG02622.hp1 HG03209.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0002c0023 a0009c0024 a0002c0005 a0002c0023 a0009c0024	a0002c0005t0026 a0002c0005t0048 a0002c0005t0050 others(2): Show a0002c0005t0026 a0002c0005t0048 a0002c0005t0050 a0002c0023t0049 a0009c0024t0065	a0002c0005t0026g0124 a0002c0005t0026g0129 a0002c0005t0048g0126 others(3): Show a0002c0005t0026g0124 a0002c0005t0026g0129 a0002c0005t0048g0126 a0002c0005t0050g0125 a0002c0023t0049g0123 a0009c0024t0065g0114	6	352	0.0171	18	c.153 others(35): Show c.153+2165_153+2166insCCCTCCTCCTCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910154	C C	CCCTCCTC others(11): Show CCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19003.hp1 NA18992.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0011 a0001c0028t0003 a0001c0002t0011 a0001c0028t0003	a0001c0002t0011g0326 a0001c0028t0003g0263 a0001c0002t0011g0326 a0001c0028t0003g0263	2	352	0.0057	18	c.153 others(35): Show c.153+2186_153+2203dupCTCCTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910157	T T	TCCCCCTC others(11): Show TCCCCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01099.hp1 others(3): Show HG00673.hp2 HG01074.hp1 HG01099.hp1 HG02074.hp1 HG02155.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0004g0230 a0001c0001t0004g0235 a0001c0001t0010g0216	6	352	0.0171	18	c.153 others(35): Show c.153+2156_153+2157insCCCTCCCCCTCCTCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910183	C C	CTCCTCCT others(11): Show CTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0072 a0001c0002t0009g0072	1	352	0.0028	18	c.153 others(35): Show c.153+2197_153+2198insGTCCTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910186	C C	CTCCTCCT others(11): Show CTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0022 a0001c0008t0022	a0001c0008t0022g0105 a0001c0008t0022g0105	1	352	0.0028	18	c.153 others(35): Show c.153+2200_153+2201insGTCCTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910207	G G	GTCCTCCT others(11): Show GTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	352	0.0028	18	c.153 others(35): Show c.153+2210_153+2227dupCTCCTCCTCCTCCTCCTC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp1 HG01516.hp1 others(5): Show HG00140.hp1 HG01361.hp1 HG01516.hp1 HG02165.hp2 HG03195.hp1 HG03492.hp1 HG03516.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0001g0242 others(5): Show a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0001g0242 a0001c0001t0004g0165 a0001c0001t0004g0186 a0001c0001t0004g0233 a0001c0001t0010g0147 a0001c0001t0010g0238	8	352	0.0227	18	c.244 others(37): Show c.2445-1328_2445-1311dupATATATATATATATATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATG others(11): Show GATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG03098.hp1 others(1): Show HG02145.hp1 HG02622.hp2 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0134 a0001c0003t0013g0139 a0001c0003t0013g0141 others(1): Show a0001c0003t0013g0134 a0001c0003t0013g0139 a0001c0003t0013g0141 a0001c0003t0013g0142	4	352	0.0114	18	c.244 others(37): Show c.2445-1339_2445-1338insGTGTATATATATATATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994427	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp1 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0053 a0001c0026t0051 a0001c0001t0053 a0001c0026t0051	a0001c0001t0053g0174 a0001c0026t0051g0133 a0001c0001t0053g0174 a0001c0026t0051g0133	2	352	0.0057	18	c.244 others(37): Show c.2445-1311_2445-1310insATATATATATATATGTAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar