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
CEP152_chr15_48732938_48816069	48765636	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	92	0.0109	17	c.228 others(36): Show c.2280+1407_2280+1423dupAAAAAAAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84135451	C C	CAGACTGC others(10): Show CAGACTGCTTCCCAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02647.hp2 others(2): Show HG01884.hp1 HG02280.hp1 HG02647.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0137 a0001c0001t0002g0194 others(2): Show a0001c0001t0002g0111 a0001c0001t0002g0137 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196	5	212	0.0236	17	c.387 others(36): Show c.3871-8956_3871-8940dupTCTCTGGGAAGCAGTCT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	25/26			chr6	TogoVar
CEP20_chr16_15860719_15893603	15890556	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	155	0.0065	17	c.-19 others(28): Show c.-1972_-1971insTTTTTTTTTTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1954		chr16	TogoVar
CEP250_chr20_35450598_35524280	35451046	A A	AAATATAT others(10): Show AAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0057 a0020c0030t0057	a0020c0030t0057g0224 a0020c0030t0057g0224	1	257	0.0039	17	c.-50 others(28): Show c.-5003_-5002insAATATATATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4551		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451050	A A	ATATATAT others(10): Show ATATATATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01071.hp2 others(5): Show HG00099.hp1 HG00140.hp1 HG01071.hp2 HG01099.hp2 HG03041.hp2 HG03942.hp2 NA18998.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0181 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0012g0174	8	212	0.0377	17	c.-49 others(28): Show c.-4999_-4998insTATATATATATATAAAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4547		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451052	A A	ATATATAT others(10): Show ATATATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0193 a0001c0001t0001g0015 a0001c0001t0001g0193	2	202	0.0099	17	c.-49 others(28): Show c.-4997_-4996insTATATATATATAAATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4545		chr20	TogoVar
CEP290_chr12_88044016_88147088	88107404	A A	AATAATAA others(10): Show AATAATAATTGAACACAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	232	0.0043	17	c.248 others(34): Show c.2484-307_2484-306insCTGTGTTCAATTATTAT	CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	23/53			chr12	TogoVar
CEP295_chr11_93656682_93735358	93705289	C C	CAAAGCAC others(10): Show CAAAGCACAAATATGCAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	352	0.0028	17	c.559 others(36): Show c.5597-1452_5597-1436dupGCACAAATATGCATAAA	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	180090470	C C	CGGGAGGC others(10): Show CGGGAGGCGGAGCTTGCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	246	0.0041	17	c.642 others(34): Show c.6426-242_6426-226dupGGAGGCGGAGCTTGCAG	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130410029	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0067 a0003c0003t0067	a0003c0003t0067g0304 a0003c0003t0067g0304	1	336	0.0030	17	c.277 others(34): Show c.277+1092_277+1093insAAGAAAAAAAAAAAAAA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	5/10			chr7	TogoVar
CEP41_chr7_130388771_130446016	130426449	A A	ATCAGTAA others(10): Show ATCAGTAATAGGAGGAAG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	344	0.0029	17	c.97+ others(32): Show c.97+1505_97+1506insCTTCCTCCTATTACTGA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	2/10			chr7	TogoVar
CEP41_chr7_130388771_130446016	130437764	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18969.hp2 NA18983.hp2 others(1): Show HG00558.hp2 NA18969.hp2 NA18983.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0008 a0001c0001t0013g0031 a0001c0001t0013g0168 a0001c0001t0013g0008 a0001c0001t0013g0031 a0001c0001t0013g0168	4	324	0.0123	17	c.33+ others(32): Show c.33+3153_33+3169dupTTTTTTTTTTTTTTTTT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	1/10			chr7	TogoVar
CEP43_chr6_166994397_167057718	167038313	T T	TTCAGCCT others(10): Show TTCAGCCTCCAAAAGGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp2 others(19): Show HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01361.hp1 HG02080.hp2 HG02145.hp2 HG03486.hp2 HG03942.hp1 HG04204.hp1 NA18948.hp1 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp2 NA19072.hp2 NA20905.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 others(14): Show a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0006c0007t0090	a0002c0002t0015g0010 a0002c0002t0015g0040 a0002c0002t0015g0206 others(18): Show a0002c0002t0015g0010 a0002c0002t0015g0040 a0002c0002t0015g0206 a0002c0002t0035g0200 a0002c0002t0035g0203 a0002c0002t0036g0010 a0002c0002t0036g0202 a0002c0002t0091g0010 a0002c0002t0092g0197 a0002c0002t0093g0201 a0002c0002t0094g0207 a0002c0002t0095g0198 a0002c0002t0096g0199 a0002c0002t0097g0204 a0002c0002t0098g0039 a0002c0002t0099g0039 a0002c0002t0100g0196 a0002c0002t0101g0205 a0002c0002t0102g0040 a0002c0002t0103g0195 a0006c0007t0090g0194	22	374	0.0588	17	c.112 others(36): Show c.1126-1588_1126-1587insGCCTCCAAAAGGACTCA	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174291782	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0028 a0005c0007t0028	a0005c0007t0028g0045 a0005c0007t0028g0045	1	354	0.0028	17	c.-14 others(36): Show c.-147-6180_-147-6179insTTTTTTTTTTTTTTTTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02015.hp1 others(24): Show HG01496.hp2 HG01891.hp1 HG02015.hp1 HG02071.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp1 NA18951.hp1 NA18974.hp2 NA18978.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0023 a0001c0004t0003	a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0207 others(23): Show a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0009g0100 a0001c0003t0001g0006 a0001c0003t0001g0152 a0001c0003t0003g0156 a0001c0003t0003g0162 a0001c0003t0003g0165 a0001c0003t0003g0176 a0001c0003t0003g0181 a0001c0003t0003g0189 a0001c0003t0003g0191 a0001c0003t0003g0195 a0001c0003t0003g0198 a0001c0003t0003g0201 a0001c0003t0008g0199 a0001c0003t0023g0173 a0001c0004t0003g0192	27	33	0.8182	17	c.106 others(34): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118472545	T T	TTTAAAAG others(10): Show TTTAAAAGATATCTTATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0018 a0007c0007t0018	a0007c0007t0018g0299 a0007c0007t0018g0299	1	300	0.0033	17	c.191 others(36): Show c.1915-1902_1915-1901insCATAAGATATCTTTTAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	10/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18964.hp2 HG02572.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0229 a0002c0002t0002g0193 a0002c0002t0002g0229	2	58	0.0345	17	c.102 others(38): Show c.1021-18997_1021-18981dupTTTTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	C C	CTGGGTGT others(10): Show CTGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0028 a0003c0003t0003g0028	1	243	0.0041	17	c.232 others(36): Show c.232+32158_232+32159insACACACACACACACCCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0186 a0002c0002t0026g0186	1	117	0.0085	17	c.232 others(36): Show c.232+32152_232+32153insACACCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26235567	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18906.hp1 HG00639.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0008 a0001c0001t0001 a0004c0011t0008	a0001c0001t0001g0271 a0004c0011t0008g0276 a0001c0001t0001g0271 a0004c0011t0008g0276	2	100	0.0200	17	c.-23 others(34): Show c.-23+1261_-23+1277dupTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	98	0.0102	17	c.208 others(34): Show c.208+4410_208+4426dupTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01167.hp1 others(14): Show HG00099.hp1 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG01981.hp1 HG02129.hp1 HG02895.hp2 HG03654.hp2 HG04204.hp2 NA18968.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0005c0006t0001	a0001c0001t0001g0180 a0001c0001t0001g0284 a0002c0002t0001g0004 others(13): Show a0001c0001t0001g0180 a0001c0001t0001g0284 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0212 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0237 a0002c0002t0001g0241 a0002c0002t0001g0246 a0002c0002t0001g0251 a0002c0002t0001g0255 a0002c0002t0001g0262 a0002c0002t0007g0207 a0005c0006t0001g0247	17	36	0.4722	17	c.904 others(32): Show c.904-669_904-668insTGTGTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEP85_chr1_26229200_26283808	26256956	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03139.hp1 others(2): Show HG02647.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0003 a0003c0007t0004 a0001c0001t0003 a0003c0007t0004	a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0136 others(2): Show a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0003g0138 a0003c0007t0004g0303	5	336	0.0149	17	c.904 others(32): Show c.904-641_904-640insGTGTGTGTGTGTGTGTG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEP89_chr19_32870925_32976958	32944220	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03516.hp2 others(1): Show HG02630.hp2 HG02922.hp2 HG03516.hp2 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0002c0001 a0008c0011 a0001c0002 a0002c0001 a0008c0011	a0001c0002t0010 a0002c0001t0002 a0008c0011t0012 a0001c0002t0010 a0002c0001t0002 a0008c0011t0012	a0001c0002t0010g0375 a0001c0002t0010g0376 a0002c0001t0002g0310 others(1): Show a0001c0002t0010g0375 a0001c0002t0010g0376 a0002c0001t0002g0310 a0008c0011t0012g0378	4	173	0.0231	17	c.595 others(34): Show c.595+4029_595+4045dupTTTTTTTTTTTTTTTTT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18			chr19	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG03195.hp1 HG02647.hp1 HG02723.hp1 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0125 a0002c0003t0001g0405 a0003c0004t0001g0388 a0001c0001t0001g0125 a0002c0003t0001g0405 a0003c0004t0001g0388	3	42	0.0714	17	c.-1- others(34): Show c.-1-19219_-1-19203dupTTTTTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8238289	A A	AGGGAGGG others(10): Show AGGGAGGGGTATTGGCTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18969.hp2 NA18995.hp1 others(4): Show NA18960.hp2 NA18969.hp2 NA18995.hp1 NA19010.hp1 NA19010.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006	a0001c0002t0004g0231 a0001c0002t0005g0063 a0001c0002t0006g0209 others(4): Show a0001c0002t0004g0231 a0001c0002t0005g0063 a0001c0002t0006g0209 a0001c0002t0006g0229 a0001c0002t0006g0230 a0001c0002t0006g0233 a0001c0002t0006g0255	7	416	0.0168	17	c.-1- others(34): Show c.-1-12778_-1-12762dupTATTGGCTGGGGAGGGG	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8265236	C C	CAAACTTT others(10): Show CAAACTTTGGGAGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0410 a0003c0004t0001g0410	1	416	0.0024	17	c.31 others(28): Show c.3127_*3128insAAACTTTGGGAGGCTGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		2816		chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	55	0.0182	17	c.47 others(28): Show c.4754_*4755insAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00733.hp1 others(20): Show HG00280.hp2 HG00423.hp1 HG00733.hp1 HG00735.hp1 HG01258.hp2 HG02040.hp1 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG03098.hp1 HG03471.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18939.hp2 NA18954.hp1 NA18962.hp1 NA18980.hp2 NA18985.hp1 NA19068.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0013 a0002c0023 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0008t0001 a0002c0003t0001 a0002c0003t0004 a0002c0013t0001 a0002c0023t0003 a0003c0004t0001 a0003c0004t0004	a0001c0001t0002g0214 a0001c0001t0002g0291 a0001c0001t0002g0332 others(20): Show a0001c0001t0002g0214 a0001c0001t0002g0291 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0002g0350 a0001c0001t0002g0363 a0001c0001t0003g0171 a0001c0001t0003g0186 a0001c0001t0003g0389 a0001c0001t0006g0221 a0001c0002t0001g0161 a0001c0002t0006g0210 a0001c0008t0001g0086 a0002c0003t0001g0103 a0002c0003t0001g0114 a0002c0003t0001g0118 a0002c0003t0004g0325 a0002c0013t0001g0385 a0002c0023t0003g0008 a0003c0004t0001g0009 a0003c0004t0004g0316	23	130	0.1769	17	c.51 others(28): Show c.5185_*5186insAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50148925	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19065.hp2 NA18966.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0300 a0001c0002t0002g0296 a0001c0002t0002g0300	2	211	0.0095	17	c.198 others(34): Show c.198-4869_198-4868insATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50161784	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19066.hp1 HG03098.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0209 a0001c0001t0004g0186 a0001c0001t0001g0209 a0001c0001t0004g0186	2	84	0.0238	17	c.197 others(34): Show c.197+5316_197+5317insTTTTTTTTTTTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168520598	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0083 a0001c0001t0009g0044 a0001c0001t0008g0083 a0001c0001t0009g0044	2	18	0.1111	17	c.171 others(36): Show c.171-26985_171-26969dupTTTTTTTTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG03540.hp1 HG01243.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0288	3	11	0.2727	17	c.118 others(36): Show c.1189-3932_1189-3916dupTTTTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0223 a0005c0008t0002g0223	1	284	0.0035	17	c.552 others(32): Show c.552-559_552-543dupTTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CFAP126_chr1_161359733_161372876	161372610	G G	GGGATTTC others(10): Show GGGATTTCGTTTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0015	1	348	0.0029	17	c.-47 others(28): Show c.-4743_-4742insGCAGGCAAACGAAATCC	CFAP126	ENSG00000188931.4	transcript	ENST00000367974.2	protein_coding		4735		chr1	TogoVar
CFAP161_chr15_81129270_81154179	81150856	T T	TTCTTGAC others(10): Show TTCTTGACTGAACACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	446	0.0022	17	c.23 others(28): Show c.2323_*2324insTCTTGACTGAACACCGA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1678		chr15	TogoVar
CFAP206_chr6_87402972_87469465	87462526	A A	AGTACCTC others(10): Show AGTACCTCCTTGTAAGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	374	0.0027	17	c.163 others(36): Show c.1638+1381_1638+1397dupACCTCCTTGTAAGTGGT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58880095	T T	TACAATCA others(10): Show TACAATCATTGACATCAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0003	2	202	0.0099	17	c.715 others(34): Show c.715+4433_715+4449dupTTGATGTCAATGATTGT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	7/16			chr3	TogoVar
CFAP221_chr2_119539449_119661661	119628289	T T	TCTCTGTG others(10): Show TCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	163	0.0061	17	c.165 others(34): Show c.1650+503_1650+504insCTCTGTGTGTGTGTGTG	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119628289	T T	TCTGTGTG others(10): Show TCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	163	0.0061	17	c.165 others(34): Show c.1650+503_1650+504insCTGTGTGTGTGTGTGTG	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP251_chr12_121913592_122008919	121928704	A A	ACGTATAT others(10): Show ACGTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18942.hp1 NA18978.hp1 others(4): Show HG03139.hp2 NA18942.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1 NA19055.hp2 NA19082.hp1	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0001 a0001c0011t0001 a0001c0009t0001 a0001c0011t0001	a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 others(4): Show a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 a0001c0009t0001g0061 a0001c0009t0001g0062 a0001c0009t0001g0063 a0001c0011t0001g0138	7	234	0.0299	17	c.748 others(34): Show c.748-3042_748-3041insCGTATATATATATATTT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21			chr12	TogoVar
CFAP251_chr12_121913592_122008919	121959739	C C	CTGGAAAG others(10): Show CTGGAAAGGAGTGTAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0060 a0001c0009t0001g0060	1	352	0.0028	17	c.213 others(34): Show c.2133+646_2133+662dupTGGAAAGGAGTGTAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18981.hp1 NA18999.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0060 a0001c0009t0001g0061 a0001c0009t0001g0063 a0001c0009t0001g0060 a0001c0009t0001g0061 a0001c0009t0001g0063	3	25	0.1200	17	c.300 others(36): Show c.3006+2720_3006+2736dupAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(10): Show ATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0216 a0001c0002t0038g0216	1	345	0.0029	17	c.139 others(32): Show c.139+765_139+766insATATATGTATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02572.hp1 NA18966.hp1 HG02015.hp1 HG02572.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0208 a0001c0001t0003g0030 a0001c0001t0001g0208 a0001c0001t0003g0030	3	347	0.0086	17	c.139 others(32): Show c.139+765_139+766insATATATATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80572507	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19091.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0063 a0001c0001t0001g0068	2	14	0.1429	17	c.243 others(36): Show c.243-10574_243-10558dupTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80937312	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG02523.hp1 others(4): Show HG00408.hp1 HG00639.hp1 HG02523.hp1 HG03041.hp2 HG03139.hp2 NA18957.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0002 a0002c0006t0001 a0001c0001t0001 a0001c0003t0002 a0002c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0003t0002g0092 a0002c0006t0001g0082	7	42	0.1667	17	c.477 others(34): Show c.477-7492_477-7476dupTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP44_chr3_113281930_113446493	113293435	T T	TTTGGGGA others(10): Show TTTGGGGATTAAATGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02630.hp2 others(7): Show HG02055.hp1 HG02145.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 NA19043.hp1	a0009 a0012 a0019 others(1): Show a0009 a0012 a0019 a0025	a0009c0010 a0012c0017 a0019c0020 others(1): Show a0009c0010 a0012c0017 a0019c0020 a0025c0042	a0009c0010t0027 a0009c0010t0042 a0009c0010t0043 others(4): Show a0009c0010t0027 a0009c0010t0042 a0009c0010t0043 a0012c0017t0028 a0012c0017t0041 a0019c0020t0011 a0025c0042t0078	a0009c0010t0027g0050 a0009c0010t0027g0281 a0009c0010t0042g0051 others(6): Show a0009c0010t0027g0050 a0009c0010t0027g0281 a0009c0010t0042g0051 a0009c0010t0043g0052 a0012c0017t0028g0275 a0012c0017t0028g0276 a0012c0017t0041g0043 a0019c0020t0011g0007 a0025c0042t0078g0318	10	346	0.0289	17	c.537 others(36): Show c.5373+1235_5373+1251dupTTTCATTTAATCCCCAA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	34/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113302457	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp2 HG02738.hp1 others(7): Show HG00738.hp1 HG02145.hp2 HG02738.hp1 HG03704.hp2 HG03927.hp1 HG06807.hp1 NA18970.hp2 NA18972.hp1 NA18991.hp1 NA19030.hp2	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0007 a0004c0004 a0004c0043 others(1): Show a0003c0007 a0004c0004 a0004c0043 a0008c0011	a0003c0007t0035 a0003c0007t0056 a0004c0004t0006 others(4): Show a0003c0007t0035 a0003c0007t0056 a0004c0004t0006 a0004c0004t0007 a0004c0004t0012 a0004c0043t0057 a0008c0011t0023	a0003c0007t0035g0049 a0003c0007t0056g0054 a0004c0004t0006g0286 others(7): Show a0003c0007t0035g0049 a0003c0007t0056g0054 a0004c0004t0006g0286 a0004c0004t0007g0289 a0004c0004t0007g0290 a0004c0004t0007g0297 a0004c0004t0012g0285 a0004c0004t0012g0304 a0004c0043t0057g0274 a0008c0011t0023g0028	10	194	0.0515	17	c.507 others(36): Show c.5077+1442_5077+1458dupTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	32/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113324042	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp2 HG02615.hp1 others(8): Show HG00408.hp1 HG01106.hp2 HG02615.hp1 HG02723.hp2 NA18944.hp2 NA18969.hp1 NA18985.hp2 NA19012.hp1 NA19067.hp2 NA19080.hp1 NA19083.hp2	a0004 a0005 a0015 others(1): Show a0004 a0005 a0015 a0017	a0004c0004 a0005c0005 a0015c0024 others(2): Show a0004c0004 a0005c0005 a0015c0024 a0017c0039 a0017c0040	a0004c0004t0004 a0004c0004t0007 a0005c0005t0010 others(5): Show a0004c0004t0004 a0004c0004t0007 a0005c0005t0010 a0005c0005t0015 a0005c0005t0046 a0015c0024t0024 a0017c0039t0066 a0017c0040t0022	a0004c0004t0004g0302 a0004c0004t0007g0298 a0005c0005t0010g0009 others(8): Show a0004c0004t0004g0302 a0004c0004t0007g0298 a0005c0005t0010g0009 a0005c0005t0010g0055 a0005c0005t0015g0013 a0005c0005t0015g0015 a0005c0005t0015g0021 a0005c0005t0046g0022 a0015c0024t0024g0277 a0017c0039t0066g0122 a0017c0040t0022g0279	11	274	0.0401	17	c.451 others(36): Show c.4516+2386_4516+2402dupTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar

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