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
BFSP2_chr3_133395056_133480208	133425943	A A	AGGCTAGG others(90): Show AGGCTAGGGAAGGCAAGGGAAGGGAGGGGAGGGGGAAGTGGAGGGGAGGG GGAGGGGAGGGGAGGGAGAGGGGGAGGGGACGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp2 others(9): Show HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01884.hp2 HG02630.hp2 HG02698.hp1 HG03239.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0072 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0147 a0001c0001t0001g0260 a0001c0002t0001g0086 a0001c0002t0001g0087 a0002c0003t0001g0003 a0002c0003t0001g0261	12	225	0.0533	97	c.490 others(116): Show c.490-21372_490-21371insCTAGGGAAGGCAAGGGAAGGGAGGGG AGGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGAGGGAGAGGGGGAGGGG ACGGGGAGGGGAGGGGGAGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425943	A A	AGGCTAGG others(90): Show AGGCTAGGGAAGGCAAGGGAAGGGAGGGGAGGGGGAAGTGGAGGGGAGGG GGAGGGGAGGGGAGGGAGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02970.hp1 others(2): Show HG02280.hp1 HG02615.hp2 HG02970.hp1 HG03225.hp1 NA19030.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0009 a0001c0001 a0002c0003 a0006c0009	a0001c0001t0001 a0002c0003t0001 a0006c0009t0001 a0001c0001t0001 a0002c0003t0001 a0006c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0138 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0138 a0001c0001t0001g0162 a0002c0003t0001g0145 a0006c0009t0001g0170	5	218	0.0229	97	c.490 others(116): Show c.490-21372_490-21371insCTAGGGAAGGCAAGGGAAGGGAGGGG AGGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGAGGGAGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425969	A A	AGGGGGAG others(90): Show AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGA AGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	73	0.0137	97	c.490 others(116): Show c.490-21348_490-21347insGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGG AGGGGAGGGGAAGGGGAGGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(90): Show AAAAAAAAAAAAATATATATATATATATATATATATATAAAAATATATAT ATATATATAAATATATATATATATAAATATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0050 a0001c0002t0017g0050	1	97	0.0103	97	c.665 others(116): Show c.665-32031_665-32030insAAAAAAAAAAATATATATATATATAT ATATATATATAAAAATATATATATATATATAAATATATATATATATAAAT ATATATATATATAAATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRSK2_chr11_1384934_1467689	1441841	A A	ACCCCTCA others(90): Show ACCCCTCAAGTGCACCGTCCCCCCATTAGCTACCCCTCAAGTGCACCATC CCCCTCATTAGCTACCCCTCAGGTGCATCATCCCCTCCTCATTAGCTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0321 a0001c0001t0077g0321	1	356	0.0028	97	c.414 others(112): Show c.414-625_414-529dupATTAGCTACCCCTCAAGTGCACCATCCCCC TCATTAGCTACCCCTCAGGTGCATCATCCCCTCCTCATTAGCTGCCCCTC AAGTGCACCGTCCCCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	570672	G G	GGTGGAAA others(90): Show GGTGGAAAGGGCGGAGGGGTGGGTGGGGGGAGGGGCGGAGGTGTGGGGGG AGGGGGGCGGAGGGGGTGAGTGGGGGAGGGGTGGAGGGGGTGGGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	304	0.0033	97	c.-19 others(108): Show c.-1963_-1962insGTGGAAAGGGCGGAGGGGTGGGTGGGGGGAGGGG CGGAGGTGTGGGGGGAGGGGGGCGGAGGGGGTGAGTGGGGGAGGGGTGGA GGGGGTGGGTGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1923		chr19	TogoVar
BSN_chr3_49549477_49676549	49605516	A A	ATATATAA others(90): Show ATATATAATATATAATATATATTATATATAAATATATATTATATATTATA TATATTATATATATTTATATATAATATATATTATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	181	0.0055	97	c.225 others(116): Show c.225-19453_225-19452insATATATAATATATATTATATATAAAT ATATATTATATATTATATATATTATATATATTTATATATAATATATATTA TATATAATATATATTTATATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
C11orf65_chr11_108377755_108472529	108408671	C C	CAATAAAT others(90): Show CAATAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18954.hp1 NA18985.hp1 HG00642.hp2 NA18954.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0068 a0001c0001t0001g0269 a0001c0001t0001g0278	3	311	0.0096	97	c.175 others(114): Show c.175-1523_175-1522insTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTTATTTTATT TTATTTTATTTTATTTATT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(90): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01261.hp2 others(14): Show HG00323.hp1 HG00735.hp1 HG01261.hp2 HG01981.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02602.hp1 HG03834.hp2 HG03927.hp2 NA18939.hp1 NA18981.hp1 NA19003.hp2 NA19012.hp2 NA19067.hp1 NA19068.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 others(14): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0285	17	246	0.0691	97	c.175 others(114): Show c.175-1526_175-1525insTATTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTTATTTT ATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(90): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18973.hp1 NA19084.hp2 NA18941.hp2 NA18973.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0225 a0001c0001t0001g0299 a0001c0001t0001g0303	3	232	0.0129	97	c.175 others(114): Show c.175-1526_175-1525insTATTTTATTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATTTTATTTT ATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(90): Show TGGGGGGGACAGGGTCCTGCCCTGAGGGGTGAGGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGTCCTGAGGGGTCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	165	0.0061	97	c.30 others(108): Show c.3065_*3066insCTCAGACCCCTCAGGACAGGACCCCGTCCCCCCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCCTCACCCCTCAGGGCAGGA CCCTGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	404833	G G	GGGGGGGA others(90): Show GGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	293	0.0034	97	c.22 others(108): Show c.2262_*2263insTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCAGG ACCCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		611		chr19	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(90): Show TATATATATTATATATATATATATATATATATAATATATATATATATATA TAATATATATATATATATATATATAATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	286	0.0035	97	c.-24 others(116): Show c.-246+2759_-246+2760insTATATATATATATATATATATATTAT ATATATATATATATATATATTATATATATATATATATATTATATATATAT ATATATATATATAATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CACNA1H_chr16_1148106_1226768	1173798	G G	GACCTGTG others(90): Show GACCTGTGCACACAGTGGGGCCTCACACCACATGGGAGTTGTGGACATTA ACCTGTGCACACAGTGGGACCTCACGTCACGTGGGGCTGTGGACATTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0010 a0010	a0010c0129 a0010c0129	a0010c0129t0012 a0010c0129t0012	a0010c0129t0012g0189 a0010c0129t0012g0189	1	331	0.0030	97	c.299 others(116): Show c.299+19854_299+19950dupACATTTACCTGTGCACACAGTGGGGC CTCACACCACATGGGAGTTGTGGACATTAACCTGTGCACACAGTGGGACC TCACGTCACGTGGGGCTGTGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85212812	C C	CTCTTTCT others(90): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	79	0.0127	97	c.61+ others(116): Show c.61+253158_61+253159insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTCTTTCTTTCTTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122705888	A A	ATATAATA others(90): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATAATATATAATATATAATATAATATATAATATAATATATAATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	97	0.0103	97	c.453 others(116): Show c.453+31066_453+31067insAATATATTATATATTATATTATATAT TATATTATATATTATATATTATATTATATATTATATTATATATTATATAT TATATTATATATTATATTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48858009	G G	GAATAGAA others(90): Show GAATAGAATAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTA GAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAATAGAATAGAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	326	0.0031	97	c.100 others(116): Show c.1008+1833_1008+1834insGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAA TAGAATAGAAAATAGAATAGA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44227736	A A	ATGGGGGA others(90): Show ATGGGGGACAGAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGA GGGAGAGTCTGGGGGACAGAGGAGGGTGTGGGGGACAGAGGGAGAGTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0147 a0001c0004t0003g0147	1	194	0.0052	97	c.146 others(116): Show c.1468+1059_1468+1060insGACTCTCCCTCTGTCCCCCACACCCT CCTCTGTCCCCCAGACTCTCCCTCTGTCCCCCACACCCTCCTGTGTCCCC CACACCCTCCTCTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC141_chr2_178824757_179055137	179015558	C C	CTCATATA others(90): Show CTCATATATATGATATATATATCTCATATATCTCATATATATGATATATA TATCTCATATATCTCATATATATGATATATATATCTCATATATATGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0223 a0001c0007t0003g0223	1	218	0.0046	97	c.225 others(116): Show c.225+31725_225+31726insATCATATATATGAGATATATATATCA TATATATGAGATATATGAGATATATATATCATATATATGAGATATATGAG ATATATATATCATATATATGA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTTCCTT others(90): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTGGCTGCCTTCCTCCCCTCCCATCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0009 a0002c0002t0016g0009	1	84	0.0119	97	c.360 others(116): Show c.3600+8356_3600+8357insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGGCTGCCTTCCTCCCC TCCCATCCCCTCCCCTCCTCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC60_chr12_119329729_119546040	119397839	G G	GGGGGAGG others(90): Show GGGGGAGGGAGGGGGGAGGGTGGGAGGGGGAGGGGGAGGGAGGGGGGAGG GTGGGAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	86	0.0116	97	c.91- others(114): Show c.91-30840_91-30839insAGGGAGGGGGGAGGGTGGGAGGGGGAGG GGGAGGGAGGGGGGAGGGTGGGAGGGGGAGGGGGAGGGAGGGGGAGGGGG AGGGAGGGGGAGGGAGGGG	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCNY_chr10_35331509_35577667	35415382	T T	TAGAAGGG others(90): Show TAGAAGGGCTTTGTTGGCCCTCAGGGGAGCTGGTGCCTAATCCTCAGGGC AGAAAGCCTTTTTGGGCCTTGAGAAGATGGAAACTCTTTCCTGAAGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	294	0.0034	97	c.155 others(116): Show c.155-68008_155-67912dupTGGCCCTCAGGGGAGCTGGTGCCTAA TCCTCAGGGCAGAAAGCCTTTTTGGGCCTTGAGAAGATGGAAACTCTTTC CTGAAGGCAGAAGGGCTTTGT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61329441	T T	TCCCCTCG others(90): Show TCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTG CTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01884.hp2 others(5): Show HG01243.hp1 HG01255.hp1 HG01884.hp2 HG02559.hp2 HG02622.hp1 HG02895.hp1 HG03130.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0003t0039 a0001c0006t0026 a0002c0004t0001 a0002c0004t0012	a0001c0001t0001g0029 a0001c0001t0002g0007 a0001c0001t0027g0019 others(5): Show a0001c0001t0001g0029 a0001c0001t0002g0007 a0001c0001t0027g0019 a0001c0003t0039g0063 a0001c0006t0026g0034 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0012g0016	8	29	0.2759	97	c.169 others(116): Show c.169+74508_169+74509insTCGTGGGTCTGGGACGCGGGTCGAGG TGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCA CCCAGGTCCTCATGGTCCCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF2_chr10_11012872_11341675	11284011	T T	TGTGGTAA others(90): Show TGTGGTAAGTGGATGATGGACGGAGGGGTGGGTGGATGATGGATGAGTGT GTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0005 a0001c0002t0007 a0001c0003t0005	a0001c0002t0007g0058 a0001c0003t0005g0009 a0001c0002t0007g0058 a0001c0003t0005g0009	2	179	0.0112	97	c.842 others(114): Show c.842-4402_842-4401insAAGTGGATGATGGACGGAGGGGTGGGTG GATGATGGATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11284011	T T	TGTGGTAA others(90): Show TGTGGTAAGTGGATGATGGATGGAGGGGTGGGTGGATGATGGATGAGTGT GTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG06807.hp2 HG02486.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0022 a0001c0003t0022 a0001c0002t0002 a0001c0002t0022 a0001c0003t0022	a0001c0002t0002g0052 a0001c0002t0022g0053 a0001c0003t0022g0155 a0001c0002t0002g0052 a0001c0002t0022g0053 a0001c0003t0022g0155	3	180	0.0167	97	c.842 others(114): Show c.842-4402_842-4401insAAGTGGATGATGGATGGAGGGGTGGGTG GATGATGGATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAAGAAAG others(90): Show AAAGAAAGAAAGAAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGAAAGAAA AGAAAGAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	209	0.0048	97	c.403 others(112): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTTCTTTCTTTTTCTTTCTTTCTTTCTTCTTT CTTTTTCTTTCTTTCTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP276_chr1_109100951_109117747	109113393	A A	AGAGAGAG others(90): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	402	0.0025	97	c.-71 others(106): Show c.-715_-714insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT GACAGGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		647		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113399	A A	AGAGAGAG others(90): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCCTG TCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	400	0.0025	97	c.-72 others(106): Show c.-721_-720insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTGACAGGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		653		chr1	TogoVar
CFAP61_chr20_20047532_20365698	20320401	G G	GTAATATA others(90): Show GTAATATATTATATATATGTAATATATAATATATGTAATATATTATATAT ATGTAATATATATAATATATGTAATATATATTATATATGTAATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0170 a0001c0027t0001g0170	1	150	0.0067	97	c.342 others(118): Show c.3423-21422_3423-21421insTATATATATGTAATATATAATATA TGTAATATATTATATATATGTAATATATATAATATATGTAATATATATTA TATATGTAATATATATAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFI_chr4_109735695_109806999	109756926	A A	AAAGAAAG others(90): Show AAAGAAAGAAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0301 a0002c0003t0001g0301	1	352	0.0028	97	c.904 others(112): Show c.904+836_904+837insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CLEC18B_chr16_74403631_74426478	74406077	A A	ATATAGGG others(90): Show ATATAGGGTAACATTCTGGCGTTGCCATGGCATTTGTAAGCTGTCTTGGC GCTGGTGGGAGTGTAGCAGTGAGGACGACCAGAGGTCATTCGCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	286	0.0035	97	c.29 others(108): Show c.2928_*2929insGTGATGCGAATGACCTCTGGTCGTCCTCACTGCT ACACTCCCACCAGCGCCAAGACAGCTTACAAATGCCATGGCAACGCCAGA ATGTTACCCTATA	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2553		chr16	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(90): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0184 a0001c0001t0043g0184	1	268	0.0037	97	c.21 others(106): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTT TCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLN8_chr8_1758789_1791570	1763615	G G	GCCGCGCC others(90): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCGCCCCCCGCCCCGCGCCC CGCCCCCCGCCCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	408	0.0025	97	c.-39 others(106): Show c.-394_-393insCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCGCCCC CCGCCCCGCGCCCCGCCCCCCGCCCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCGCCCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		173		chr8	TogoVar
CNBD1_chr8_86861415_87387859	87137048	T T	TTATATAT others(90): Show TTATATATATTATATTTATATTCTATGTAAATTATATATATTATATTTAT ATTCTATGTAAATTATATATATATTATATTTATATTCTATGTAAATTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	67	0.0149	97	c.432 others(116): Show c.432-68904_432-68903insATATTTATATTCTATGTAAATTATAT ATATATTATATTTATATTCTATGTAAATTATATATATATTATATTTATAT TCTATGTAAATTATATATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNR2_chr1_23865515_23918362	23899850	A A	AGAAAGAA others(90): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0050 a0002c0002t0007g0050	1	252	0.0040	97	c.-46 others(116): Show c.-46+13395_-46+13396insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(90): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0237 a0001c0001t0005g0237	1	248	0.0040	97	c.-46 others(116): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTN6_chr3_1088024_1409217	1245304	A A	ATATAACA others(90): Show ATATAACATATATATATATAACATATATATATATATAACATATATATATA TATAACATATATATATATAACATATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0125 a0001c0008t0001g0125	1	209	0.0048	97	c.358 others(116): Show c.358+17315_358+17316insACATATATATATATAACATATATATA TATATAACATATATATATATATAACATATATATATATAACATATATATAT ATAACATATATATATATTATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL4A2_chr13_110302284_110518209	110355712	T T	TGGGGGAG others(90): Show TGGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTACCAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0111 a0004c0009t0001g0111	1	195	0.0051	97	c.100 others(114): Show c.100-1756_100-1755insGAGGGCTGTACTAGCTCACCTGTGTGGG GGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGC TCACTTGTGTGTGTGGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355845	G G	GTGGAGGG others(90): Show GTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCT CACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGTGGGT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0106 a0001c0106	a0001c0106t0001 a0001c0106t0001	a0001c0106t0001g0217 a0001c0106t0001g0217	1	354	0.0028	97	c.100 others(114): Show c.100-1627_100-1626insTGGAGGGCTGTACAGCTCACCTGTGTGA GTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTAC AGCTCACCTGTGTGTGGGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(90): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0202 a0023c0031t0001g0202	1	235	0.0043	97	c.630 others(112): Show c.630+179_630+180insGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3605409	T T	TCATGTGG others(90): Show TCATGTGGGTGCTGAGGAGGGGGAGGGGGGCAGCCACGTGGGTGCTGAGG AGGCGGGGGAGGGGAGTCACGTGGGTGCTGAGGAGGGGGAGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	146	0.0068	97	c.130 others(112): Show c.130+941_130+942insTGTGGGTGCTGAGGAGGGGGAGGGGGGCAG CCACGTGGGTGCTGAGGAGGCGGGGGAGGGGAGTCACGTGGGTGCTGAGG AGGGGGAGGGGCGGCCA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	312644	C C	CCACTGAA others(90): Show CCACTGAAGTCTCCACAGGAGGGCAAGGTGGACAATCTGTCCCATAGGAG GGGGATTCATGAGGGGAGCTTGTGAAGAATGGAGCCAGTAATTAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0165 a0002c0001t0165	a0002c0001t0165g0134 a0002c0001t0165g0134	1	49	0.0204	97	c.74 others(108): Show c.7400_*7401insAATTTAATTACTGGCTCCATTCTTCACAAGCTCC CCTCATGAATCCCCCTCCTATGGGACAGATTGTCCACCTTGCCCTCCTGT GGAGACTTCAGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4092		chr18	TogoVar
COPE_chr19_18894514_18924387	18902767	G G	GGAAGGAA others(90): Show GGAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAGAAAGGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	225	0.0044	97	c.735 others(112): Show c.735+500_735+501insTTCTTTCTTTCTTTCTTTCTTCCTTTCTTC CTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTC TTTCCTTTCTTTCCTTC	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(90): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp2 NA18959.hp1 HG02622.hp1 HG03471.hp2 NA18959.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0001 a0002c0003t0001 a0002c0007t0001	a0002c0003t0001g0189 a0002c0003t0001g0204 a0002c0007t0001g0140 a0002c0003t0001g0189 a0002c0003t0001g0204 a0002c0007t0001g0140	3	249	0.0120	97	c.735 others(112): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTC CTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(90): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	146	0.0068	97	c.735 others(112): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(90): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18954.hp2 NA18962.hp1 others(2): Show HG01361.hp2 NA18954.hp2 NA18962.hp1 NA19067.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0170 a0001c0002t0001g0177 others(2): Show a0001c0002t0001g0111 a0001c0002t0001g0170 a0001c0002t0001g0177 a0001c0002t0001g0184 a0001c0002t0001g0226	5	150	0.0333	97	c.735 others(112): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(90): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19009.hp2 NA18980.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0235 a0001c0002t0001g0187 a0001c0002t0001g0235	2	147	0.0136	97	c.735 others(112): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(90): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp2 others(63): Show HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01192.hp2 HG01243.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02559.hp2 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp2 HG03927.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0002 a0001c0008 a0001c0027 others(4): Show a0001c0002 a0001c0008 a0001c0027 a0002c0003 a0002c0017 a0003c0006 a0010c0016	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(9): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0008t0005 a0001c0027t0005 a0002c0003t0003 a0002c0003t0007 a0002c0017t0003 a0003c0006t0003 a0010c0016t0003	a0001c0002t0002g0313 a0001c0002t0003g0022 a0001c0002t0003g0035 others(61): Show a0001c0002t0002g0313 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0080 a0001c0002t0003g0148 a0001c0002t0003g0173 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0188 a0001c0002t0003g0201 a0001c0002t0003g0220 a0001c0002t0003g0225 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0266 a0001c0002t0003g0298 a0001c0002t0005g0158 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0191 a0001c0002t0005g0287 a0001c0002t0005g0312 a0001c0002t0007g0007 a0001c0002t0010g0210 a0001c0008t0005g0018 a0001c0027t0005g0161 a0002c0003t0003g0004 a0002c0003t0003g0113 a0002c0003t0003g0116 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0133 a0002c0003t0003g0140 a0002c0003t0003g0143 a0002c0003t0003g0167 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0007g0290 a0002c0017t0003g0142 a0003c0006t0003g0005 a0003c0006t0003g0149 a0003c0006t0003g0150 a0003c0006t0003g0151 a0003c0006t0003g0152 a0003c0006t0003g0164 a0003c0006t0003g0226 a0003c0006t0003g0227 a0003c0006t0003g0228 a0003c0006t0003g0260 a0003c0006t0003g0267 a0003c0006t0003g0268 a0003c0006t0003g0334 a0010c0016t0003g0114	66	291	0.2268	97	c.13 others(108): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(90): Show TAAATATATATTTATTTATAAATAAATATATATTTATTTATAAATAAATA TATATTTATTTATAAATTATAAATAAATATATTTATTTATAAATTATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0124 a0005c0011t0001g0124	1	285	0.0035	97	c.693 others(112): Show c.693+391_693+392insAAATATATATTTATTTATAAATAAATATAT ATTTATTTATAAATAAATATATATTTATTTATAAATTATAAATAAATATA TTTATTTATAAATTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CRIM1_chr2_36350778_36556135	36392541	T T	TTGTTAGC others(90): Show TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0066 a0001c0015t0066	a0001c0015t0066g0242 a0001c0015t0066g0242	1	322	0.0031	97	c.332 others(114): Show c.332-4073_332-4072insTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	CRIM1	ENSG00000150938.10	transcript	ENST00000280527.7	protein_coding	1/16			chr2	TogoVar

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