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
C1orf159_chr1_1076823_1121089	1080649	A A	ACCCCCAC others(89): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02165.hp2 HG02976.hp2 HG01069.hp1 HG02165.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0001t0001 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0143 a0001c0001t0005g0125 a0001c0002t0004g0229 a0001c0001t0001g0143 a0001c0001t0005g0125 a0001c0002t0004g0229	3	165	0.0182	96	c.22 others(107): Show c.2243_*2244insCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCG GAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGA CCGAGGTGGGGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080784	C C	CCTCGGTC others(89): Show CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03041.hp2 NA21309.hp1 HG02922.hp1 HG03041.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235	3	313	0.0096	96	c.21 others(107): Show c.2108_*2109insATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1038		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080820	G G	GGTCCCTG others(89): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	313	0.0032	96	c.20 others(107): Show c.2072_*2073insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1002		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(89): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	207	0.0048	96	c.19 others(107): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410624	T T	TATATATT others(89): Show TATATATTATATATATATTATATATATATAATATATATATATAATATATA TATAATATATATATATATATTATATATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG03540.hp2 others(1): Show HG02572.hp1 HG02717.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0001 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0005g0216 others(1): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0005g0216 a0001c0001t0018g0209	4	210	0.0190	96	c.-12 others(117): Show c.-125+23262_-125+23263insTATATATATATTATATATATATAA TATATATATATAATATATATATAATATATATATATATATTATATATATAT ATATAATATATATATAATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559513	T T	TCCTTCCT others(89): Show TCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCCTCCCTCTCTTCCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp2 NA18522.hp1 HG02572.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0035 a0001c0001t0012 a0001c0001t0035	a0001c0001t0012g0007 a0001c0001t0012g0008 a0001c0001t0035g0009 a0001c0001t0012g0007 a0001c0001t0012g0008 a0001c0001t0035g0009	3	222	0.0135	96	c.190 others(115): Show c.190-31208_190-31207insCCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCCTCCCTCTCTTCC TCCCTTCCTTCCTTCCTTCC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559517	T T	TCCTTCCT others(89): Show TCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCCTCCCTCTCTTCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01192.hp2 others(14): Show HG00408.hp2 HG00639.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01993.hp1 HG02055.hp2 HG02257.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp2 NA18612.hp1 NA18954.hp1 NA19009.hp1 NA19063.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0031 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0185 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0140 a0001c0001t0013g0070 a0001c0001t0031g0079 a0001c0001t0039g0197	17	200	0.0850	96	c.190 others(115): Show c.190-31208_190-31207insCCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCCTCCCTCTC TTCCTCCCTTCCTTCCTTCC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf87_chr1_59985394_60078770	60065003	T T	TAAATATA others(89): Show TAAATATATATATTTAATATATATAAAATATATATTAAATATATATATTT AATATATATATAAAATATATATTAAATATATATATTTAATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	173	0.0058	96	c.107 others(113): Show c.107+7533_107+7534insTATATATATTAAATATATATATTTAATA TATATTTTATATATATATTAAATATATATATTTAATATATATTTTATATA TATTAAATATATATATTT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C20orf96_chr20_265863_295750	279077	A A	AGGGCGGG others(89): Show AGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGAGGGCGGGACGGAGGGAG GGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0380 a0001c0001t0001g0221 a0001c0001t0001g0380	2	399	0.0050	96	c.465 others(109): Show c.465+94_465+95insGCCCTCCCGCCCTCCCGCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCGCCCTC CCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145509	A A	ATAATTTA others(89): Show ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	345	0.0029	96	c.40 others(107): Show c.4030_*4031insAATTATATATCATTATATAATATAATAAATTATA TTATATATCATTATATAATATAATAAATTATATTATATATCATTATATAA TATAATAAATTA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3496		chr22	TogoVar
C2CD4C_chr19_400445_414147	404125	T T	TGGGGGGG others(89): Show TGGGGGGGACGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	184	0.0054	96	c.29 others(107): Show c.2970_*2971insCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCAGGGCAGGA CCCGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1319		chr19	TogoVar
C2CD4C_chr19_400445_414147	404479	G G	GGGGGAAC others(89): Show GGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	259	0.0039	96	c.26 others(107): Show c.2616_*2617insTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCC TCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGG ACCCCGTTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		965		chr19	TogoVar
C2CD4C_chr19_400445_414147	404828	T T	TGTGGGGG others(89): Show TGTGGGGGGGACGGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGG TCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0092 a0001c0001t0112g0092	1	318	0.0031	96	c.22 others(107): Show c.2267_*2268insCCCTCAGGACAGGACCCCGTCCCCCCCTCACACC CCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC CGTCCCCCCCAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		616		chr19	TogoVar
C7orf50_chr7_992006_1143247	1136313	T T	TAAAATAT others(89): Show TAAAATATATATAAATATATATAAACATATATAAATATATAAAATATATA TAAATATATATAAACATATATAAATATATATAAACATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	320	0.0031	96	c.-2+ others(111): Show c.-2+1001_-2+1002insTTATATATTTATGTTTATATATATTTATAT ATGTTTATATATATTTATATATATTTTATATATTTATATATGTTTATATA TATTTATATATATTTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C9orf85_chr9_71906639_71978457	71968223	A A	ATCTTTGT others(89): Show ATCTTTGTTCATTAGAAATACTCATCTGTCATTTTCTTGTTTGCTTTTTT TTTGTCTTGATATTAGAGCCTTATCAAATGAGTTGAAAAATATTTCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	248	0.0040	96	c.210 others(113): Show c.210-3279_210-3184dupTTTGTTCATTAGAAATACTCATCTGTCA TTTTCTTGTTTGCTTTTTTTTTGTCTTGATATTAGAGCCTTATCAAATGA GTTGAAAAATATTTCTTC	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(89): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	107	0.0093	96	c.29 others(107): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CABLES1_chr18_23130485_23265470	23218300	C C	CCTCCCGC others(89): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG03209.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0167 a0001c0001t0011g0168 a0001c0001t0011g0169 others(1): Show a0001c0001t0011g0167 a0001c0001t0011g0168 a0001c0001t0011g0169 a0001c0001t0011g0170	4	268	0.0149	96	c.108 others(115): Show c.1088+4269_1088+4270insGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218444	C C	CCTCCCGC others(89): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01256.hp1 others(5): Show HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG04184.hp2 NA19010.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0259 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0259 a0001c0001t0004g0182 a0001c0001t0004g0239 a0001c0001t0005g0215 a0001c0001t0005g0225 a0002c0002t0001g0160	8	263	0.0304	96	c.108 others(115): Show c.1088+4413_1088+4414insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218445	C C	CTCCCGCA others(89): Show CTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp2 HG02273.hp1 HG01433.hp1 HG01952.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0053	3	276	0.0109	96	c.108 others(115): Show c.1088+4413_1088+4414insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218492	C C	CCTCCCGC others(89): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0163 a0001c0001t0010g0163	1	250	0.0040	96	c.108 others(115): Show c.1088+4485_1088+4486insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218588	C C	CCTCCCGC others(89): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18984.hp1 NA19005.hp1 NA18967.hp2 NA18984.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0009 a0001c0003t0006 a0001c0003t0009	a0001c0003t0006g0145 a0001c0003t0006g0146 a0001c0003t0009g0137 a0001c0003t0006g0145 a0001c0003t0006g0146 a0001c0003t0009g0137	3	242	0.0124	96	c.108 others(115): Show c.1088+4557_1088+4558insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218660	G G	GCTCCCGC others(89): Show GCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0011	1	225	0.0044	96	c.108 others(115): Show c.1088+4635_1088+4636insGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA2D3_chr3_54117552_55079557	54763788	T T	TGTATATA others(89): Show TGTATATATGTACATATATATGTATATATATGTACATATATATACATATA TACGTATATATATGTATATATATGTACATATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	109	0.0092	96	c.124 others(113): Show c.1247-422_1247-421insGTACATATATATGTATATATATGTACAT ATATATACATATATACGTATATATATGTATATATATGTACATATATATAC GTATATATACGTATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85212812	C C	CTCTTTCT others(89): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	79	0.0127	96	c.61+ others(115): Show c.61+253158_61+253159insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTTTCTTTCTTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85212851	T T	TTTCTTTC others(89): Show TTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	146	0.0068	96	c.61+ others(115): Show c.61+253199_61+253200insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALD1_chr7_134774634_134975729	134929619	T T	TACACATA others(89): Show TACACATACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATATACACACATATATGTATGTGTATATATACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02965.hp2 others(1): Show HG02559.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0072 a0001c0001t0005g0104 others(1): Show a0001c0001t0005g0064 a0001c0001t0005g0072 a0001c0001t0005g0104 a0001c0001t0005g0241	4	257	0.0156	96	c.218 others(111): Show c.218+721_218+722insACATACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATATACACACATATATGTATGTGTATATATAC ACACACATATACACAC	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(89): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02698.hp1 HG03471.hp2 others(1): Show HG01167.hp1 HG02698.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0031 a0001c0002t0011 others(1): Show a0001c0001t0022 a0001c0001t0031 a0001c0002t0011 a0001c0002t0055	a0001c0001t0022g0070 a0001c0001t0031g0168 a0001c0002t0011g0164 others(1): Show a0001c0001t0022g0070 a0001c0001t0031g0168 a0001c0002t0011g0164 a0001c0002t0055g0207	4	12	0.3333	96	c.565 others(113): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113709759	A A	ATATATAT others(89): Show ATATATATATATATGTATGTGTATATATATATATATATATATATATATAT ATATATATATGTGTGTGTATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0009 a0001c0001t0041g0009	1	273	0.0037	96	c.161 others(115): Show c.161-47988_161-47987insCACACATATATATATATATATATATA TATACACACACATATATATATATATATATATATATATATATATATATATA CACATACATATATATATATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CANT1_chr17_78986716_79014764	79004895	G G	GGAGAGGA others(89): Show GGAGAGGAGTTGGGGGGAGTTAGGGAGGGGTGTTAGGGAGAGAGGGGTTA GGGAGAGGGGAGTTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	365	0.0027	96	c.-14 others(115): Show c.-147+4768_-147+4769insTCCCTAACTCCCCTCCCTAACCTCCC TCTCCCTAACTCCCCTCTCCCTAACCCCTCTCTCCCTAACACCCCTCCCT AACTCCCCCCAACTCCTCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(89): Show CCACACTCACACACATACACACTCACATACAGACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	265	0.0038	96	c.193 others(113): Show c.1938+509_1938+510insTCACACACATACACACTCACATACAGAC AACCACACCACACTCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(89): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02572.hp2 HG02647.hp2 HG00438.hp2 HG02572.hp2 HG02647.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0002 a0001c0003t0045 a0004c0005t0001 a0001c0003t0002 a0001c0003t0045 a0004c0005t0001	a0001c0003t0002g0057 a0001c0003t0045g0091 a0004c0005t0001g0209 a0001c0003t0002g0057 a0001c0003t0045g0091 a0004c0005t0001g0209	3	109	0.0275	96	c.-77 others(115): Show c.-77+16261_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CAV1_chr7_116520036_116566179	116562940	G G	GAGGAAGG others(89): Show GAGGAAGGAAGAGGAAGGAAGAGAAAGAGGAAGGAAGGAAGAGGAAGGAA GAGAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	42	0.0238	96	c.36 others(107): Show c.3653_*3654insAGGAAGGAAGAGGAAGGAAGAGAAAGAGGAAGGA AGGAAGAGGAAGGAAGAGAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1762		chr7	TogoVar
CCDC141_chr2_178824757_179055137	178981636	G G	GTATATAT others(89): Show GTATATATATATATATATATATATATATATATATATATACATACATATAT ACATATATATATATATATATATATATATACATACATATATACATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0261 a0002c0006t0006g0261	1	74	0.0135	96	c.226 others(113): Show c.226-2962_226-2961insTATATGTATATATGTATGTATATATATA TATATATATATATATATGTATATATGTATGTATATATATATATATATATA TATATATATATATATATA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATG others(89): Show TATATATGTATATATATATATATATATATATATATATATGTATATATATA TATATATATATATATATATATACATATATATATATACACATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	58	0.0172	96	c.226 others(113): Show c.2260-155_2260-154insGTATATATATATATATATATATATATAT ATATGTATATATATATATATATATATATATATATATACATATATATATAT ACACATATATACATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(89): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	139	0.0072	96	c.360 others(115): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(89): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	139	0.0072	96	c.360 others(115): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTGCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(89): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01346.hp1 others(6): Show HG00642.hp2 HG01192.hp1 HG01346.hp1 HG03491.hp2 HG03540.hp1 NA18960.hp1 NA19001.hp1 NA19005.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0179 others(6): Show a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0004g0149 a0001c0001t0010g0217 a0001c0001t0010g0219 a0002c0002t0002g0138 a0003c0003t0002g0137	9	147	0.0612	96	c.360 others(115): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(89): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	139	0.0072	96	c.360 others(115): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(89): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	139	0.0072	96	c.360 others(115): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(89): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18959.hp1 HG01175.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0151 a0001c0001t0001g0102 a0001c0001t0001g0151	2	254	0.0079	96	c.305 others(113): Show c.305-2088_305-1993dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91401236	T T	TTATATAT others(89): Show TTATATATTATATATTATATAATATATACATTATATATATTATATATTAT ATAATATATACATTATATATATTATATATTATATAATATATACATTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02273.hp2 NA18942.hp2 HG02056.hp1 HG02273.hp2 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0002c0002t0001g0087 a0002c0002t0001g0094 a0001c0001t0001g0093 a0002c0002t0001g0087 a0002c0002t0001g0094	3	253	0.0119	96	c.270 others(113): Show c.270+7422_270+7423insTAATGTATATATTATATAATATATAATA TATATAATGTATATATTATATAATATATAATATATATAATGTATATATTA TATAATATATAATATATA	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	3/29			chr14	TogoVar
CCNP_chr19_40217208_40231689	40228679	A A	AATATATA others(89): Show AATATATATATATATATATATATATATATCTATATCTATATATATCTATA TATATATATATATATCTATATATATATATATATATATATCTATATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	320	0.0031	96	c.-20 others(107): Show c.-2039_-2038insAGATATAGATATATATATATATATATATATAGAT ATATATATATATATATAGATATATATAGATATAGATATATATATATATAT ATATATATATAT	CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding		1991		chr19	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAATA others(89): Show AAAAAATATATATATATATATATATATATATATATATATATATACACATA CATATATATATATATATATATATATATATACACATACATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0252 a0001c0001t0005g0252	1	194	0.0052	96	c.367 others(113): Show c.367+4420_367+4421insATATATATATGTATGTGTATATATATAT ATATATATATATATATATGTATGTGTATATATATATATATATATATATAT ATATATATATATATTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CD163L1_chr12_7349960_7449153	7399430	T T	TCTTCTTC others(89): Show TCTTCTTCTTCCTCTTCCTCTTCCTCCCTTTCCCTTCTTTCCTTCCTTCC TTCTTCTTCCTCTTCCTCTTCCTCCCTTTCCCTTCTTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02135.hp1 HG02257.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18991.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0009 others(5): Show a0001 a0005 a0009 a0013 a0018 a0019 a0021 a0024	a0001c0002 a0001c0004 a0001c0007 others(8): Show a0001c0002 a0001c0004 a0001c0007 a0001c0026 a0005c0030 a0009c0015 a0013c0024 a0018c0023 a0019c0020 a0021c0021 a0024c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0007t0001 a0001c0007t0002 a0001c0026t0002 a0005c0030t0003 a0009c0015t0001 a0013c0024t0001 a0018c0023t0003 a0019c0020t0001 a0021c0021t0003 a0024c0022t0001	a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 others(71): Show a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0102 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0320 a0001c0002t0001g0340 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0263 a0001c0002t0002g0292 a0001c0002t0002g0313 a0001c0002t0003g0254 a0001c0002t0003g0261 a0001c0002t0003g0291 a0001c0002t0003g0297 a0001c0002t0003g0316 a0001c0004t0001g0303 a0001c0004t0001g0304 a0001c0004t0001g0311 a0001c0004t0001g0312 a0001c0004t0001g0315 a0001c0004t0001g0341 a0001c0004t0002g0025 a0001c0004t0002g0026 a0001c0004t0002g0302 a0001c0004t0002g0305 a0001c0004t0002g0307 a0001c0004t0002g0310 a0001c0004t0002g0314 a0001c0004t0003g0306 a0001c0004t0003g0308 a0001c0004t0003g0309 a0001c0007t0001g0163 a0001c0007t0002g0017 a0001c0026t0002g0109 a0005c0030t0003g0301 a0009c0015t0001g0264 a0009c0015t0001g0295 a0013c0024t0001g0262 a0018c0023t0003g0257 a0019c0020t0001g0253 a0021c0021t0003g0258 a0024c0022t0001g0268	85	186	0.4570	96	c.140 others(113): Show c.1409-847_1409-846insGAAGGAAGGAAAGAAGGGAAAGGGAGGA AGAGGAAGAGGAAGAAGAAGGAAGGAAGGAAAGAAGGGAAAGGGAGGAAG AGGAAGAGGAAGAAGAAG	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	6/19			chr12	TogoVar
CD5_chr11_61097489_61132852	61100052	A A	ACACACAA others(89): Show ACACACAACATGGAGATCACACACACACAACATGGAGATCACACACACAC ATCAACATGGAGATCACACACACACATCAACATGGAGATCACATTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(90): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18968.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0003 a0002c0004 others(4): Show a0001c0001 a0002c0003 a0002c0004 a0002c0009 a0002c0011 a0003c0002 a0009c0014	a0001c0001t0001 a0001c0001t0008 a0002c0003t0003 others(5): Show a0001c0001t0001 a0001c0001t0008 a0002c0003t0003 a0002c0004t0004 a0002c0009t0004 a0002c0011t0004 a0003c0002t0001 a0009c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0008g0001 a0002c0003t0003g0064 a0002c0003t0003g0065 a0002c0004t0004g0078 a0002c0004t0004g0092 a0002c0009t0004g0070 a0002c0011t0004g0030 a0002c0011t0004g0089 a0003c0002t0001g0079 a0009c0014t0001g0025	93	241	0.3859	96	c.-25 others(107): Show c.-2509_-2508insCACACAACATGGAGATCACACACACACAACATGG AGATCACACACACACATCAACATGGAGATCACACACACACATCAACATGG AGATCACATTCG	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2436		chr11	TogoVar
CDC25A_chr3_48152146_48193417	48191732	C C	CATACATA others(89): Show CATACATATACATATATATGTATATATACATATACATATATATGTATATA TACATATACATATATATGTATATATACATATACATATATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02647.hp2 others(1): Show HG02258.hp2 HG02451.hp2 HG02647.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0038 a0001c0001t0001g0249 a0001c0001t0007g0246 a0001c0001t0001g0038 a0001c0001t0001g0249 a0001c0001t0007g0246	4	239	0.0167	96	c.-37 others(107): Show c.-3786_-3785insATATACATATATATGTATATGTATATATACATAT ATATGTATATGTATATATACATATATATGTATATGTATATATACATATAT ATGTATATGTAT	CDC25A	ENSG00000164045.12	transcript	ENST00000302506.8	protein_coding		3316		chr3	TogoVar
CDC73_chr1_193117031_193259815	193162109	C C	CATATTAT others(89): Show CATATTATATTGTATATAATATATATCATATATTATCTATTATATTGTAT ATAATATATATCATATATTATCTATTATATTGTATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	41	0.0244	96	c.972 others(113): Show c.972+9669_972+9670insTATATTGTATATAATATATATCATATAT TATCTATTATATTGTATATAATATATATCATATATTATCTATTATATTGT ATATAATATATATTATAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH26_chr20_59953423_60019529	59956925	T T	TACACATA others(89): Show TACACATATATGTGTATATATACATATATGCGTGTATATATGTACATACA CATATATACACACATATATGTGTATATATGTACATACACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0010 a0006c0020t0010	a0006c0020t0010g0010 a0006c0020t0010g0010	1	286	0.0035	96	c.-18 others(107): Show c.-1802_-1801insACACATATATGTGTATATATACATATATGCGTGT ATATATGTACATACACATATATACACACATATATGTGTATATATGTACAT ACACATATATAC	CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding		1497		chr20	TogoVar
CDH4_chr20_61247261_61945617	61329346	T T	TCCCTCGT others(89): Show TCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGC TGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0066 a0001c0003t0016g0066	1	66	0.0152	96	c.169 others(115): Show c.169+74461_169+74462insGGTGGATTGCAGCATGCGTGGAGGGC ACCCAGGTCCTCATGGTCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGG CTTTAAGCCCAGTGTGCTGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK2AP1_chr12_123255976_123276856	123275157	A A	AGGTGCTG others(89): Show AGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGAG GTGCTGAGGGGCTGGGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	122	0.0082	96	c.-35 others(107): Show c.-3540_-3539insCCAGCCCCTCAGCACCTCAGCCCCTCAGCACCCC AGCCCCTCAGCACCTCAGCCCCTCAGCACCCCAGCCCCTCAGCACCCCAG CCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3302		chr12	TogoVar

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