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
CEP112_chr17_65630537_66197133	65679129	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	112	0.0089	14	c.269 others(33): Show c.2697+9986_2697+9999dupAAAAAAAAAAAAAA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65821483	C C	CATATATA others(7): Show CATATATATAATTAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0010 a0005c0010t0001g0010	1	112	0.0089	14	c.239 others(35): Show c.2394+30320_2394+30321insATAATTATATATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65821520	A A	ATATATAT others(7): Show ATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0083 a0002c0001t0001g0083	1	112	0.0089	14	c.239 others(35): Show c.2394+30283_2394+30284insATTATATATATATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65916287	G G	GTGTGTGT others(7): Show GTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG03225.hp2 HG01891.hp1 HG02257.hp1 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0001 a0002c0004t0001 a0002c0001t0001 a0002c0004t0001	a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0004t0001g0041 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0004t0001g0041	3	112	0.0268	14	c.198 others(35): Show c.1980+11294_1980+11295insTACATACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02451.hp1 others(4): Show HG01081.hp2 HG02055.hp1 HG02451.hp1 HG02717.hp1 HG03017.hp2 NA18986.hp1 NA19056.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0005 a0001c0002 a0002c0001 a0004c0005	a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 others(2): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0004c0005t0001	a0001c0002t0001g0054 a0002c0001t0001g0015 a0002c0001t0001g0018 others(4): Show a0001c0002t0001g0054 a0002c0001t0001g0015 a0002c0001t0001g0018 a0002c0001t0001g0065 a0002c0001t0003g0019 a0002c0001t0004g0001 a0004c0005t0001g0055	7	112	0.0625	14	c.198 others(33): Show c.1980+7206_1980+7219dupATATATATATATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66025920	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00735.hp1 others(11): Show HG00280.hp1 HG00438.hp1 HG00735.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01258.hp1 HG02965.hp1 HG02976.hp1 HG03831.hp1 HG04115.hp1 NA18986.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0056 others(11): Show a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0073 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0023 a0002c0001t0001g0044 a0002c0001t0001g0068 a0002c0001t0001g0079	14	112	0.1250	14	c.165 others(33): Show c.1656+1567_1656+1580dupGTGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66092356	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02486.hp2 HG02559.hp2 others(2): Show HG00438.hp1 HG02486.hp2 HG02559.hp2 HG03831.hp2 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0005 a0001c0002 a0001c0003 a0004c0005	a0001c0002t0001 a0001c0003t0001 a0004c0005t0001 a0001c0002t0001 a0001c0003t0001 a0004c0005t0001	a0001c0002t0001g0050 a0001c0003t0001g0042 a0001c0003t0001g0062 others(2): Show a0001c0002t0001g0050 a0001c0003t0001g0042 a0001c0003t0001g0062 a0001c0003t0001g0107 a0004c0005t0001g0048	5	112	0.0446	14	c.768 others(31): Show c.768+3881_768+3894dupGTGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	8/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101929974	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG06807.hp2 HG02451.hp2 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0311 a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0311	3	336	0.0089	14	c.248 others(31): Show c.248+7219_248+7232dupTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	336	0.0030	14	c.249 others(31): Show c.249-6102_249-6089dupAAAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003186	G G	GTATATAT others(7): Show GTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01975.hp1 others(11): Show HG00408.hp2 HG00673.hp1 HG01975.hp1 HG02040.hp1 HG02622.hp1 HG02976.hp1 NA18960.hp2 NA18970.hp1 NA18973.hp1 NA18984.hp1 NA18985.hp2 NA18994.hp1 NA19007.hp2 NA19058.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0012 a0013	a0001c0001 a0002c0003 a0005c0005 others(2): Show a0001c0001 a0002c0003 a0005c0005 a0012c0012 a0013c0011	a0001c0001t0001 a0002c0003t0003 a0002c0003t0007 others(3): Show a0001c0001t0001 a0002c0003t0003 a0002c0003t0007 a0005c0005t0005 a0012c0012t0051 a0013c0011t0007	a0001c0001t0001g0056 a0001c0001t0001g0064 a0002c0003t0003g0002 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0064 a0002c0003t0003g0002 a0002c0003t0003g0012 a0002c0003t0003g0016 a0002c0003t0003g0023 a0002c0003t0003g0073 a0002c0003t0003g0109 a0002c0003t0007g0013 a0002c0003t0007g0025 a0002c0003t0007g0029 a0005c0005t0005g0121 a0012c0012t0051g0002 a0013c0011t0007g0068	14	336	0.0417	14	c.55 others(25): Show c.5543_*5544insTATATATATATATA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2125		chr11	TogoVar
CEP126_chr11_101910010_102006062	102004895	C C	CATATATA others(7): Show CATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01517.hp2 HG02015.hp1 others(3): Show HG01496.hp1 HG01517.hp2 HG02015.hp1 NA18980.hp2 NA18989.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0099 a0001c0002t0001g0007 a0001c0002t0001g0148 others(3): Show a0001c0001t0001g0099 a0001c0002t0001g0007 a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0005g0006	6	336	0.0179	14	c.72 others(25): Show c.7252_*7253insATATATATATATAT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	164	0.0061	14	c.285 others(33): Show c.2857-2608_2857-2595dupTATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80596819	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	164	0.0061	14	c.280 others(35): Show c.2807-16410_2807-16397dupTTTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80617219	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0129 a0001c0001t0002g0130	2	164	0.0122	14	c.280 others(35): Show c.2807-36810_2807-36797dupAAAAAAAAAAAAAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80619367	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG06807.hp1 NA20300.hp1 HG02818.hp2 HG06807.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0004 a0001c0001t0002 a0001c0001t0004 a0002c0002t0004	a0001c0001t0002g0132 a0001c0001t0004g0137 a0002c0002t0004g0152 a0001c0001t0002g0132 a0001c0001t0004g0137 a0002c0002t0004g0152	3	164	0.0183	14	c.280 others(35): Show c.2807-38958_2807-38945dupGTGTGTGTGTGTGT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678045	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02132.hp1 HG02965.hp2 others(3): Show HG01934.hp2 HG02132.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 NA18947.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0005c0005 a0009c0021	a0001c0001t0001 a0002c0002t0004 a0002c0006t0003 others(2): Show a0001c0001t0001 a0002c0002t0004 a0002c0006t0003 a0005c0005t0001 a0009c0021t0007	a0001c0001t0001g0026 a0002c0002t0004g0065 a0002c0002t0004g0073 others(3): Show a0001c0001t0001g0026 a0002c0002t0004g0065 a0002c0002t0004g0073 a0002c0006t0003g0145 a0005c0005t0001g0028 a0009c0021t0007g0088	6	164	0.0366	14	c.280 others(35): Show c.2806+65029_2806+65030insATATATATATATAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 NA19030.hp2 HG02280.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0061 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0061	3	164	0.0183	14	c.280 others(35): Show c.2806+65012_2806+65025dupATATATATATATAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80711295	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	164	0.0061	14	c.280 others(35): Show c.2806+31766_2806+31779dupCACACACACACACA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0081 a0002c0002t0003g0081	1	164	0.0061	14	c.280 others(35): Show c.2806+14003_2806+14016dupACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80732471	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0085	1	164	0.0061	14	c.280 others(35): Show c.2806+10590_2806+10603dupACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80810323	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0025 a0001c0012t0001g0049 a0001c0001t0001g0025 a0001c0012t0001g0049	2	164	0.0122	14	c.121 others(35): Show c.1210-17227_1210-17214dupTTTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80935646	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0164 a0003c0003t0002g0164	1	164	0.0061	14	c.-16 others(31): Show c.-16+3725_-16+3738dupTTTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar
CEP135_chr4_55943945_56038361	55956177	C C	CCTTAAAA others(7): Show CCTTAAAACTTAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0263 a0002c0002t0003g0263	1	346	0.0029	14	c.473 others(31): Show c.473-1037_473-1036insTAAAACTTAAAACT	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP152_chr15_48732938_48816069	48777466	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18949.hp2 NA18988.hp2 HG02155.hp1 NA18949.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0308 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0308	3	342	0.0088	14	c.157 others(33): Show c.1577+3716_1577+3729dupCACACACACACACA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	12/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84156743	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG02647.hp1 others(3): Show HG01346.hp2 HG01358.hp1 HG02647.hp1 HG02922.hp1 HG03209.hp1 HG03669.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0003c0003	a0001c0001t0003 a0001c0004t0002 a0001c0011t0002 others(1): Show a0001c0001t0003 a0001c0004t0002 a0001c0011t0002 a0003c0003t0003	a0001c0001t0003g0065 a0001c0001t0003g0112 a0001c0004t0002g0210 others(3): Show a0001c0001t0003g0065 a0001c0001t0003g0112 a0001c0004t0002g0210 a0001c0011t0002g0019 a0001c0011t0002g0020 a0003c0003t0003g0090	6	214	0.0280	14	c.278 others(33): Show c.2782-1247_2782-1234dupGTGTGTGTGTGTGT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84170373	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0113 a0007c0013t0002g0113	1	214	0.0047	14	c.228 others(31): Show c.2280-954_2280-941dupTTTTTTTTTTTTTT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	17/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0077 a0006c0006t0007g0077	1	390	0.0026	14	c.-21 others(31): Show c.-21-1055_-21-1042dupAAAAAAAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02965.hp2 HG03139.hp2 others(5): Show HG00558.hp1 HG02965.hp2 HG03139.hp2 NA18951.hp2 NA18993.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0025 a0003c0009 others(1): Show a0001c0001 a0001c0025 a0003c0009 a0013c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0025t0002 a0003c0009t0003 a0013c0015t0001	a0001c0001t0002g0081 a0001c0001t0002g0186 a0001c0001t0002g0269 others(5): Show a0001c0001t0002g0081 a0001c0001t0002g0186 a0001c0001t0002g0269 a0001c0001t0005g0114 a0001c0001t0011g0295 a0001c0025t0002g0217 a0003c0009t0003g0108 a0013c0015t0001g0027	8	303	0.0264	14	c.367 others(33): Show c.3677-3322_3677-3309dupCACACACACACACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP192_chr18_12986362_13130036	13066963	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02622.hp1 others(2): Show HG01884.hp2 HG02615.hp1 HG02622.hp1 HG03195.hp1 NA19030.hp1	a0005 a0014 a0025 a0005 a0014 a0025	a0005c0005 a0014c0012 a0025c0032 a0005c0005 a0014c0012 a0025c0032	a0005c0005t0001 a0014c0012t0001 a0025c0032t0001 a0005c0005t0001 a0014c0012t0001 a0025c0032t0001	a0005c0005t0001g0153 a0005c0005t0001g0159 a0005c0005t0001g0172 others(2): Show a0005c0005t0001g0153 a0005c0005t0001g0159 a0005c0005t0001g0172 a0014c0012t0001g0011 a0025c0032t0001g0011	5	392	0.0128	14	c.448 others(31): Show c.4489-845_4489-832dupTGTGTGTGTGTGTG	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	21/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP20_chr16_15860719_15893603	15882780	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02155.hp1 HG03688.hp1 others(6): Show HG02015.hp1 HG02155.hp1 HG03688.hp1 HG03831.hp1 NA18968.hp1 NA18971.hp2 NA18982.hp2 NA19079.hp1 NA19089.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0003c0003t0004 a0002c0002t0004 a0003c0003t0004	a0002c0002t0004g0019 a0002c0002t0004g0083 a0002c0002t0004g0084 others(3): Show a0002c0002t0004g0019 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0086 a0003c0003t0004g0030	9	433	0.0208	14	c.226 others(31): Show c.226+1227_226+1228insGTGTGTGTGTGTAT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15890556	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01346.hp2 others(4): Show HG00140.hp2 HG00280.hp2 HG01346.hp2 HG02109.hp1 HG02897.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0005g0018 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0005g0018 a0001c0001t0005g0063 a0001c0001t0005g0070 a0001c0001t0005g0071	7	433	0.0162	14	c.-19 others(25): Show c.-1972_-1971insTTTTTTTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1954		chr16	TogoVar
CEP20_chr16_15860719_15893603	15890640	G G	GATATTTT others(7): Show GATATTTTGATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02647.hp1 HG02809.hp2 others(2): Show HG01361.hp1 HG02647.hp1 HG02809.hp2 HG03710.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0236 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238	5	433	0.0116	14	c.-20 others(25): Show c.-2056_-2055insGTGTATCAAAATAT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		2038		chr16	TogoVar
CEP350_chr1_179949810_180119875	179991667	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0162 a0014c0017t0001g0162	1	248	0.0040	14	c.236 others(29): Show c.236-394_236-393insATGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	179991707	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0126 a0005c0005t0002g0126	1	248	0.0040	14	c.236 others(29): Show c.236-354_236-353insGTGTGTATATATAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004931	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01516.hp2 HG04228.hp1 HG01069.hp2 HG01516.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0226 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0226	3	248	0.0121	14	c.113 others(33): Show c.1133-1521_1133-1508dupTTCTTTCTTTCTTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180007839	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0001g0153 a0001c0001t0001g0194	2	248	0.0081	14	c.124 others(33): Show c.1246+1299_1246+1312dupGTGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180042132	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03471.hp2 HG02809.hp1 HG03471.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0008 a0009c0009t0008	a0009c0009t0008g0007 a0009c0009t0008g0009 a0009c0009t0008g0007 a0009c0009t0008g0009	2	248	0.0081	14	c.436 others(31): Show c.4362+353_4362+366dupCACACACACACACA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	19/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180042132	T T	TCTCACAC others(7): Show TCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0019 a0002c0020t0019	a0002c0020t0019g0010 a0002c0020t0019g0010	1	248	0.0040	14	c.436 others(31): Show c.4362+331_4362+332insTCACACACACACAC	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	19/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180090556	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	248	0.0040	14	c.642 others(31): Show c.6426-145_6426-144insGAAAAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180090557	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	248	0.0040	14	c.642 others(31): Show c.6426-153_6426-140dupAAAAAAAAAAGAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392347	G G	GACACACA others(7): Show GACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0110 a0001c0001t0009g0110	1	346	0.0029	14	c.65 others(25): Show c.6543_*6544insGTGTGTGTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1423		chr7	TogoVar
CEP41_chr7_130388771_130446016	130410026	C C	CTTCTTTT others(7): Show CTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18962.hp2 NA20129.hp2 HG02896.hp1 NA18962.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0027 a0001c0001t0087 a0001c0001t0023 a0001c0001t0027 a0001c0001t0087	a0001c0001t0023g0085 a0001c0001t0027g0276 a0001c0001t0087g0295 a0001c0001t0023g0085 a0001c0001t0027g0276 a0001c0001t0087g0295	3	346	0.0087	14	c.277 others(31): Show c.277+1082_277+1095dupAAAAAAAAAAAGAA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	5/10			chr7	TogoVar
CEP41_chr7_130388771_130446016	130410030	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0298 a0001c0001t0071g0298	1	346	0.0029	14	c.277 others(31): Show c.277+1091_277+1092insGAAAAAAAAAAAAA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	5/10			chr7	TogoVar
CEP43_chr6_166994397_167057718	167022259	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA20905.hp1 HG00597.hp2 NA20905.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0035 a0006c0007t0090 a0002c0002t0035 a0006c0007t0090	a0002c0002t0035g0209 a0006c0007t0090g0198 a0002c0002t0035g0209 a0006c0007t0090g0198	2	376	0.0053	14	c.580 others(29): Show c.580-126_580-113dupCACACACACACACA	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01346.hp2 others(21): Show HG00408.hp1 HG00597.hp1 HG01346.hp2 HG01891.hp1 HG01934.hp1 HG02027.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp2 HG02738.hp1 HG02886.hp2 HG03209.hp2 HG03704.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18953.hp1 NA18957.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp1 NA19007.hp2 NA19012.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0031 a0001c0001t0033 others(13): Show a0001c0001t0010 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0053 a0001c0001t0076 a0001c0001t0080 a0001c0001t0086 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0123 a0001c0001t0125 a0001c0001t0131 a0001c0001t0132 a0001c0001t0195	a0001c0001t0010g0002 a0001c0001t0010g0031 a0001c0001t0010g0032 others(19): Show a0001c0001t0010g0002 a0001c0001t0010g0031 a0001c0001t0010g0032 a0001c0001t0010g0180 a0001c0001t0010g0190 a0001c0001t0031g0002 a0001c0001t0031g0187 a0001c0001t0033g0002 a0001c0001t0033g0183 a0001c0001t0034g0002 a0001c0001t0053g0015 a0001c0001t0076g0181 a0001c0001t0080g0179 a0001c0001t0086g0182 a0001c0001t0118g0071 a0001c0001t0119g0066 a0001c0001t0120g0072 a0001c0001t0123g0069 a0001c0001t0125g0059 a0001c0001t0131g0070 a0001c0001t0132g0160 a0001c0001t0195g0001	24	376	0.0638	14	c.28 others(25): Show c.2848_*2861dupGTGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174282550	T T	TATCATTT others(7): Show TATCATTTTCGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	388	0.0026	14	c.-15 others(25): Show c.-1541_-1540insATCATTTTCGTGAA	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding		1360		chr4	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 NA18977.hp1 HG02109.hp2 HG02257.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0046 a0001c0001t0053 a0001c0001t0020 a0001c0001t0046 a0001c0001t0053	a0001c0001t0020g0181 a0001c0001t0046g0041 a0001c0001t0053g0141 a0001c0001t0020g0181 a0001c0001t0046g0041 a0001c0001t0053g0141	3	228	0.0132	14	c.14 others(27): Show c.14667_*14668insATATATATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177675	T T	TATATATA others(7): Show TATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG03669.hp2 others(1): Show HG00099.hp2 HG00738.hp2 HG03669.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0025 a0002c0002t0070 others(1): Show a0002c0002t0003 a0002c0002t0025 a0002c0002t0070 a0002c0002t0072	a0002c0002t0003g0001 a0002c0002t0025g0020 a0002c0002t0070g0021 others(1): Show a0002c0002t0003g0001 a0002c0002t0025g0020 a0002c0002t0070g0021 a0002c0002t0072g0016	4	228	0.0175	14	c.14 others(27): Show c.14705_*14706insATATATATATATAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3258		chr6	TogoVar
CEP63_chr3_134481057_134570031	134528569	C C	CGTGTGTA others(7): Show CGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0099 a0001c0001t0009g0099	1	322	0.0031	14	c.223 others(31): Show c.223-3270_223-3269insATGTGTGTGTGTGT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134528569	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02559.hp1 others(4): Show HG01109.hp1 HG01243.hp1 HG02559.hp1 HG02622.hp2 HG02818.hp2 NA18969.hp2 NA18994.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0211 a0001c0001t0005g0122 a0001c0001t0009g0097 others(4): Show a0001c0001t0001g0211 a0001c0001t0005g0122 a0001c0001t0009g0097 a0001c0001t0009g0098 a0002c0002t0001g0215 a0003c0006t0001g0220 a0003c0006t0001g0222	7	322	0.0217	14	c.223 others(31): Show c.223-3264_223-3251dupTGTGTGTGTGTGTG	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar

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