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
COL25A1_chr4_108803725_109307658	108961568	C C	CCTGTTCT others(28): Show CCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG01891.hp1 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0005 a0001c0004t0001 a0001c0005t0005	a0001c0004t0001g0043 a0001c0005t0005g0122 a0001c0004t0001g0043 a0001c0005t0005g0122	2	43	0.0465	35	c.492 others(54): Show c.492+12764_492+12798dupAACAGAACAGAACAGAACAGAACAGA ACAGAACAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL2A1_chr12_47967967_48009476	47971855	T T	TCTATATT others(28): Show TCTATATTGTATAATAATATATAGGTATATATTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02970.hp1 others(6): Show HG02486.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0003 a0001c0018 a0003c0005 others(2): Show a0001c0003 a0001c0018 a0003c0005 a0011c0051 a0012c0034	a0001c0003t0003 a0001c0018t0003 a0003c0005t0002 others(2): Show a0001c0003t0003 a0001c0018t0003 a0003c0005t0002 a0011c0051t0001 a0012c0034t0002	a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0018t0003g0017 others(4): Show a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0018t0003g0017 a0001c0018t0003g0144 a0003c0005t0002g0097 a0011c0051t0001g0192 a0012c0034t0002g0058	9	253	0.0356	35	c.15 others(46): Show c.1551_*1552insGATAATATATACCTATATATTATTATACAATATA G	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1111		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	46	0.0217	35	c.-15 others(46): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0219 a0003c0002t0003g0219	1	56	0.0179	35	c.546 others(50): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0181 a0003c0002t0003g0181	1	56	0.0179	35	c.546 others(50): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0242 a0004c0003t0004g0242	1	56	0.0179	35	c.546 others(50): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134657464	A A	AGGTGTAG others(28): Show AGGTGTAGTTTATAGATAATATGGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG04199.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0001 a0001c0008t0003 a0001c0015t0052 a0001c0002t0001 a0001c0008t0003 a0001c0015t0052	a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016 a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016	3	270	0.0111	35	c.109 others(54): Show c.109+15169_109+15203dupGGTGTAGTTTATAGATAATATGGGGG TGGGGTGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970476	G G	GGGGTGAG others(28): Show GGGGTGAGTGGGGGCTGTGGAGTGAGTGGGGTCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0087 a0012c0087	a0012c0087t0001 a0012c0087t0001	a0012c0087t0001g0053 a0012c0087t0001g0053	1	396	0.0025	35	c.393 others(52): Show c.3936+111_3936+145dupACAGACCCCACTCACTCCACAGCCCCCA CTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0222 a0003c0006t0003g0222	1	161	0.0062	35	c.250 others(54): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0027 a0001c0002t0004g0027	1	129	0.0078	35	c.-11 others(46): Show c.-1118_-1117insAAATAAATATATATATATATATATATATATATAT A	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0046 a0001c0005t0001g0046	1	129	0.0078	35	c.-11 others(46): Show c.-1118_-1117insAAAAAAATATATATATATATATATATATATATAT A	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	129	0.0078	35	c.-11 others(46): Show c.-1118_-1117insAAAAAAAAATATATATATATATATATATATATAT A	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	129	0.0078	35	c.-11 others(46): Show c.-1118_-1117insAAAAAAAAAAATATATATATATATATATATATAT A	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	129	0.0078	35	c.-11 others(46): Show c.-1118_-1117insAAAAAAAAAAAAATATATATATATATATATATAT A	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(28): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0045 a0001c0005t0001g0111 a0001c0005t0001g0045 a0001c0005t0001g0111	2	130	0.0154	35	c.-11 others(46): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATATATATATATAT A	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318315	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	417	0.0024	35	c.-11 others(46): Show c.-1119_-1118insTATATATATATATATATATATATATATATATATA T	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1030		chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184024479	A A	AGTAGCTG others(28): Show AGTAGCTGAGATTACAGGTGCCCATCACCACACCTC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0095 a0001c0004t0004g0095	1	338	0.0030	35	c.263 others(54): Show c.263+12615_263+12616insGAGGTGTGGTGATGGGCACCTGTAAT CTCAGCTAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COP1_chr1_175939831_176212286	176015418	T T	TTATTAAC others(28): Show TTATTAACCAAAAGTAAAGGGAAGGGGTCAGATTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03139.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0024 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0024	3	298	0.0101	35	c.172 others(56): Show c.1729+12119_1729+12153dupGGAATCTGACCCCTTCCCTTTACT TTTGGTTAATA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAA others(28): Show GAAGGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19030.hp1 HG01123.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	147	0.0136	35	c.735 others(50): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPRS_chr17_31846871_31864244	31854035	C C	CAGACTGT others(28): Show CAGACTGTCTGATTTCAAATCCGTGTTTTGTCAATT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	370	0.0027	35	c.167 others(52): Show c.167-1040_167-1006dupAATTGACAAAACACGGATTTGAAATCAG ACAGTCT	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding	2/3			chr17	TogoVar
COPS3_chr17_17241616_17286246	17252332	G G	GCAGATAA others(28): Show GCAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02055.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0042 a0001c0001t0003g0043	2	322	0.0062	35	c.102 others(54): Show c.1023+2492_1023+2526dupTACCCTGGACAGCCCACACACCAAAG CGTTATCTG	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
COPS3_chr17_17241616_17286246	17252332	G G	GCAGATAA others(28): Show GCAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG02280.hp2 others(10): Show HG00741.hp2 HG01433.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0208 a0001c0001t0001g0209 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0002g0029 a0001c0001t0002g0215	13	333	0.0390	35	c.102 others(54): Show c.1023+2526_1023+2527insTACCCAGGACAGCCCACACACCAAAG CGTTATCTG	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
COPZ1_chr12_54320131_54356846	54323665	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	318	0.0031	35	c.-14 others(46): Show c.-1499_-1498insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1465		chr12	TogoVar
COQ2_chr4_83258824_83289798	83286814	A A	AAACAACA others(28): Show AAACAACAGATAAAGAACAAATTAACTGCTAGCAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	342	0.0029	35	c.-20 others(46): Show c.-2051_-2050insATTGCTAGCAGTTAATTTGTTCTTTATCTGTTGT T	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding		2017		chr4	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0345 a0002c0001t0001g0345	1	388	0.0026	35	c.114 others(54): Show c.1144-1821_1144-1820insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COTL1_chr16_84560596_84623078	84591823	C C	CAAATAAA others(28): Show CAAATAAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	24	0.0417	35	c.161 others(52): Show c.161-1596_161-1562dupTATTTTATTTTATTTTATTTTATTTTAT TTTATTT	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX19_chr7_959852_980549	964118	T T	TCCCCCCA others(28): Show TCCCCCCAAGAGCCTGCCGAGGCGGGAAACGGTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0103 a0001c0001t0012g0103	1	388	0.0026	35	c.52 others(46): Show c.5259_*5260insGGAACCGTTTCCCGCCTCGGCAGGCTCTTGGGGG G	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		733		chr7	TogoVar
CPAMD8_chr19_16887951_17031810	16926304	C C	CTTTATTT others(28): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp1 HG02132.hp2 others(8): Show HG00438.hp1 HG02056.hp1 HG02132.hp2 HG02148.hp1 HG02572.hp2 HG03130.hp1 NA18906.hp2 NA18944.hp1 NA18992.hp1 NA19088.hp1 NA20129.hp1	a0020 a0025 a0040 others(7): Show a0020 a0025 a0040 a0049 a0068 a0075 a0110 a0111 a0116 a0121	a0020c0075 a0025c0044 a0040c0174 others(7): Show a0020c0075 a0025c0044 a0040c0174 a0049c0087 a0068c0153 a0075c0080 a0110c0063 a0111c0094 a0116c0130 a0121c0095	a0020c0075t0001 a0025c0044t0001 a0040c0174t0001 others(7): Show a0020c0075t0001 a0025c0044t0001 a0040c0174t0001 a0049c0087t0001 a0068c0153t0001 a0075c0080t0001 a0110c0063t0001 a0111c0094t0002 a0116c0130t0002 a0121c0095t0002	a0020c0075t0001g0137 a0025c0044t0001g0076 a0025c0044t0001g0077 others(8): Show a0020c0075t0001g0137 a0025c0044t0001g0076 a0025c0044t0001g0077 a0040c0174t0001g0160 a0049c0087t0001g0225 a0068c0153t0001g0237 a0075c0080t0001g0082 a0110c0063t0001g0019 a0111c0094t0002g0143 a0116c0130t0002g0029 a0121c0095t0002g0064	11	242	0.0455	35	c.337 others(52): Show c.3371-933_3371-932insATAAAATAAAATAAAATAAAATAAAATA AAATAAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	25/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17013512	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02559.hp2 HG02698.hp1 others(2): Show HG01928.hp2 HG02559.hp2 HG02698.hp1 HG03209.hp1 HG03579.hp1	a0007 a0008 a0017 others(2): Show a0007 a0008 a0017 a0022 a0102	a0007c0052 a0008c0160 a0017c0050 others(2): Show a0007c0052 a0008c0160 a0017c0050 a0022c0169 a0102c0081	a0007c0052t0002 a0008c0160t0001 a0017c0050t0001 others(2): Show a0007c0052t0002 a0008c0160t0001 a0017c0050t0001 a0022c0169t0001 a0102c0081t0001	a0007c0052t0002g0119 a0008c0160t0001g0040 a0017c0050t0001g0095 others(2): Show a0007c0052t0002g0119 a0008c0160t0001g0040 a0017c0050t0001g0095 a0022c0169t0001g0120 a0102c0081t0001g0067	5	29	0.1724	35	c.268 others(52): Show c.268-1756_268-1755insATTTTATTTTATTTTATTTTATTTTATT TTATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPLX1_chr4_779957_831129	826466	C C	CGGGGCGG others(28): Show CGGGGCGGGGGCGGGGGTGGACCCGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00609.hp2 others(44): Show HG00099.hp2 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18964.hp2 NA18970.hp2 NA18990.hp2 NA19063.hp2 NA19074.hp1 NA19076.hp2 NA19082.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008	a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 others(41): Show a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0330 a0001c0001t0004g0313 a0001c0001t0005g0261 a0001c0001t0006g0348 a0001c0001t0007g0259 a0001c0001t0007g0272 a0001c0001t0007g0275 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0008g0006 a0001c0001t0008g0037 a0001c0001t0008g0264 a0001c0001t0008g0265 a0001c0001t0008g0274 a0001c0001t0008g0293 a0001c0001t0008g0294 a0001c0001t0008g0295 a0001c0001t0008g0300 a0001c0001t0008g0301 a0001c0001t0008g0316	47	208	0.2260	35	c.-50 others(44): Show c.-501_-500insCGCCCCCGCCCCGGGTCCACCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		338		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871454	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	371	0.0027	35	c.-34 others(44): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		123		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	332	0.0030	35	c.-33 others(44): Show c.-330_-329insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPLX4_chr18_59290402_59323649	59312540	A A	AATATATA others(28): Show AATATATATATTTATATATATATATATATCTTGAAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	416	0.0024	35	c.255 others(50): Show c.255+144_255+145insATTCAAGATATATATATATATATAAATATA TATAT	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPNE7_chr16_89570758_89602246	89587308	A A	ACCCGGAG others(28): Show ACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03041.hp2 HG01081.hp2 HG03041.hp2	a0001 a0001	a0001c0008 a0001c0013 a0001c0008 a0001c0013	a0001c0008t0002 a0001c0013t0002 a0001c0008t0002 a0001c0013t0002	a0001c0008t0002g0019 a0001c0013t0002g0010 a0001c0008t0002g0019 a0001c0013t0002g0010	2	79	0.0253	35	c.927 others(50): Show c.927+206_927+207insCCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0068 a0001c0001t0002g0069	2	162	0.0123	35	c.103 others(52): Show c.103+1490_103+1491insATATATATATATATATATATATATGTTT TTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(28): Show ATATATATATATATATATATATATGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03669.hp1 HG02145.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	2	162	0.0123	35	c.103 others(52): Show c.103+1490_103+1491insATATATATATATATATATATATGTTTTT TTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(28): Show CGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	156	0.0064	35	c.61- others(50): Show c.61-1975_61-1974insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPT1A_chr11_68749883_68846916	68801676	C C	CAGGGACT others(28): Show CAGGGACTCAATAACCAAGGCTGGATTCAAACCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0119 a0001c0001t0028g0119	1	234	0.0043	35	c.556 others(52): Show c.556-2322_556-2321insAAGGGTTTGAATCCAGCCTTGGTTATTG AGTCCCT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	5/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68817106	T T	TGTGTGTG others(28): Show TGTGTGTGGGTGCGTGTGTGTGGTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02486.hp1 others(7): Show HG01243.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG03041.hp1 HG03579.hp1 HG06807.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0014 a0001c0001t0030 others(3): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0030 a0001c0002t0002 a0001c0004t0001 a0001c0004t0017	a0001c0001t0002g0006 a0001c0001t0014g0138 a0001c0001t0030g0019 others(7): Show a0001c0001t0002g0006 a0001c0001t0014g0138 a0001c0001t0030g0019 a0001c0002t0002g0107 a0001c0002t0002g0121 a0001c0002t0002g0139 a0001c0002t0002g0150 a0001c0004t0001g0007 a0001c0004t0017g0005 a0001c0004t0017g0213	10	234	0.0427	35	c.-13 others(52): Show c.-13-1620_-13-1619insCACACACACACAACCACACACACGCACC CACACAC	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CR1L_chr1_207640133_207728703	207682960	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0125 a0001c0017t0001g0125	1	249	0.0040	35	c.378 others(50): Show c.378-910_378-909insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 HG03834.hp1 HG02451.hp2 HG03579.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0005 a0002c0002t0002 a0002c0005t0006 a0001c0001t0005 a0002c0002t0002 a0002c0005t0006	a0001c0001t0005g0108 a0002c0002t0002g0005 a0002c0005t0006g0077 a0001c0001t0005g0108 a0002c0002t0002g0005 a0002c0005t0006g0077	3	39	0.0769	35	c.-18 others(54): Show c.-189+3825_-189+3859dupTAAAATAAAATAAAATAAAATAAAAT AAAATAAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	76	0.0132	35	c.127 others(54): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTG	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02970.hp2 NA18954.hp2 others(2): Show HG01099.hp2 HG02970.hp2 NA18954.hp2 NA18971.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0103 a0001c0001t0001g0173 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0003g0010 a0002c0002t0001g0301	5	134	0.0373	35	c.-38 others(54): Show c.-387+7200_-387+7234dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	46	0.0217	35	c.71- others(50): Show c.71-9144_71-9143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB5_chr7_28407518_28830894	28644596	T T	TATGTTTC others(28): Show TATGTTTCAGTTTGAAATTTTGAATTTCAATTTGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp2 HG02257.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0174 a0001c0001t0009g0178 a0001c0001t0002g0174 a0001c0001t0009g0178	2	196	0.0102	35	c.464 others(54): Show c.464+74067_464+74068insGTTTGAAATTTTGAATTTCAATTTGA AATGTTTCA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28644609	G G	GAAATTTC others(28): Show GAAATTTCGAATTTCAATTTGAAATGTTTCAATTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0154	1	182	0.0055	35	c.464 others(54): Show c.464+74078_464+74079insCGAATTTCAATTTGAAATGTTTCAAT TTCAAATTT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28644609	G G	GAAATTTT others(28): Show GAAATTTTGAATTTCAATTTGAAATGTTTCAATTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01891.hp2 others(9): Show HG01081.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02615.hp2 HG03041.hp1 HG03041.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0035 a0001c0001t0041 a0001c0001t0046	a0001c0001t0002g0007 a0001c0001t0002g0120 a0001c0001t0002g0136 others(9): Show a0001c0001t0002g0007 a0001c0001t0002g0120 a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0005g0026 a0001c0001t0005g0161 a0001c0001t0009g0163 a0001c0001t0010g0144 a0001c0001t0012g0141 a0001c0001t0035g0138 a0001c0001t0041g0121 a0001c0001t0046g0009	12	193	0.0622	35	c.464 others(54): Show c.464+74075_465-74107dupATTTTGAATTTCAATTTGAAATGTTT CAATTTCAA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBL2_chr12_12606876_12650108	12643337	T T	TGATTTCC others(28): Show TGATTTCCCCAGCGAGATACTTACCACTCTCTCTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0104 a0001c0001t0018g0104	1	370	0.0027	35	c.13 others(46): Show c.1340_*1374dupGATTTCCCCAGCGAGATACTTACCACTCTCTCTT C	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding	4/4	1375	INFO_REALIGN_3_PRIME	chr12	TogoVar
CRKL_chr22_20912407_20958747	20927192	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0093 a0001c0001t0012g0093	1	52	0.0192	35	c.312 others(52): Show c.312-6569_312-6568insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF2_chrX_1185490_1217649	1191361	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02615.hp2 NA18979.hp2 others(1): Show HG01975.hp2 HG02615.hp2 NA18979.hp2 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0001c0001t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0003t0001g0015 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0078 a0001c0003t0001g0015 a0002c0005t0001g0076	4	113	0.0354	35	c.853 others(50): Show c.853-202_853-201insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7			chrX	TogoVar

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