Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
C11orf16_chr11_8915076_8937947	8936601	G G	GCCGGCTA others(186): Show GCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG02258.hp2 HG03471.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0055 a0007c0007t0001g0081 a0007c0007t0001g0055 a0007c0007t0001g0081	2	405	0.0049	193	c.-37 others(204): Show c.-3720_-3719insGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA ATTAGCCGG	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding		3655		chr11	TogoVar
C22orf42_chr22_32144006_32164303	32145779	A A	AATATAAT others(186): Show AATATAATATATTAATATAATTATATATTATATATTATATTATATAATAT ATTAATATAATTATATATTATATATTATATTATATAATATATTAATATAA TTATATATTATATATTATATTATATAATATATTAATATAATTATATATTA TATTATATAATATATTAATATAATTATATATTATATATTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01255.hp1 HG00639.hp2 HG00735.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	3	320	0.0094	193	c.37 others(204): Show c.3760_*3761insAATATAATATATAATATATAATTATATTAATATA TTATATAATATAATATATAATTATATTAATATATTATATAATATAATATA TAATATATAATTATATTAATATATTATATAATATAATATATAATATATAA TTATATTAATATATTATATAATATAATATATAATATATAATTATATTAAT ATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3226		chr22	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(186): Show TGGGGGGGACAGGGTCCTGCCCTGAGGGGTGAGGGGGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGACGGGGTCCTGTCCTGAGGGGTCTGAGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0161 a0001c0001t0056g0161	1	165	0.0061	193	c.30 others(204): Show c.3065_*3066insCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCC CCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGG ACCCCGTCCCCCCCTCAGACCCCTCAGGACAGGACCCCGTCCCCCCCACA CCCCTCAGGGCAGGACCCCGTCCCCCCCTCACCCCTCAGGGCAGGACCCT GTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C7orf50_chr7_992006_1143247	1059848	T T	TCTTAGTG others(186): Show TCTTAGTGAGGCGGGTCTTAGTGAGGCAGGTCTTAGTGGGGCGGGTCCGT AATGAGGCGGGTCTTAGGCGGGCCCGTAGTGGGGCGGGTCTTAGTGGGGC GGGTCTGTAGTGGGGCGGGTCCGTAGTGAAGCGGGTCCGTAGTGAGGCAG GTCTTAGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0101 a0001c0001t0016g0101	1	258	0.0039	193	c.130 others(212): Show c.130-49706_130-49705insGCCTGCCTAAGACCCGCCTCATTACG GACCCGCCCCACTAAGACCTGCCTCACTACGGACCCGCTTCACTACGGAC CCGCCCCACTACAGACCCGCCCCACTAAGACCCGCCCCACTACGGGCCCG CCTAAGACCCGCCTCATTACGGACCCGCCCCACTAAGACCTGCCTCACTA AGACCCGCCTCACTAAG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(186): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCT CTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03831.hp1 HG04115.hp2 HG01256.hp2 HG03831.hp1 HG04115.hp2	a0002 a0007 a0011 a0002 a0007 a0011	a0002c0030 a0007c0008 a0011c0025 a0002c0030 a0007c0008 a0011c0025	a0002c0030t0002 a0007c0008t0002 a0011c0025t0001 a0002c0030t0002 a0007c0008t0002 a0011c0025t0001	a0002c0030t0002g0165 a0007c0008t0002g0051 a0011c0025t0001g0030 a0002c0030t0002g0165 a0007c0008t0002g0051 a0011c0025t0001g0030	3	92	0.0326	193	c.573 others(212): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1199190	A A	ACCCACCG others(186): Show ACCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGC CCACCGTGCGGTCGCTGCATATATGCCCCACCCCCCACCATGGCTCCGCC CACCGCGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0054 a0054	a0054c0042 a0054c0042	a0054c0042t0003 a0054c0042t0003	a0054c0042t0003g0229 a0054c0042t0003g0229	1	290	0.0034	193	c.803 others(208): Show c.803+474_803+475insGGTCGCTGCATATATGCCCCACCCCCCACC ATGGCTCCGCCCACCGCGCAGTCGCTGCACATATGCCCCACCCCCATCAT GGCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGG CTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCT CCGCCCACCGTGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199204	C C	CGCTGCAC others(186): Show CGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGCGCAGTC GCTGCACATATGCCCCACCCCCATCATGGCTGCGCCCACCGTGTGGTCGC TGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCTG CACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0050 a0050	a0050c0128 a0050c0128	a0050c0128t0037 a0050c0128t0037	a0050c0128t0037g0013 a0050c0128t0037g0013	1	336	0.0030	193	c.803 others(208): Show c.803+452_803+453insCACCATGGCTCCGCCCACCGCGCAGTCGCT GCACATATGCCCCACCCCCATCATGGCTGCGCCCACCGTGTGGTCGCTGC ACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCTGCAC ATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTAGCTGCACAT ATGCCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199366	A A	ACCCCATC others(186): Show ACCCCATCATGGCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACC CCCATCATGGCTCCGCCCACCGTGCGGTAGCTGCACATATGCCCCACCCC CCACCATGGCTCCGCCCACCGCGCGGTCGCTGCACATATGCCCCACCCCC ATCATGGCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0062 a0062	a0062c0122 a0062c0122	a0062c0122t0003 a0062c0122t0003	a0062c0122t0003g0326 a0062c0122t0003g0326	1	334	0.0030	193	c.803 others(208): Show c.803+596_803+597insATCATGGCTCCGCCCACCGTGCGGTCGCTG CACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTAGCTGCA CATATGCCCCACCCCCCACCATGGCTCCGCCCACCGCGCGGTCGCTGCAC ATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCTGCACAT ATGCCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(186): Show GAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAG GAAATGGGAGGAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAA GCGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGC GGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	73	0.0137	193	c.207 others(210): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCC CCCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTTCCTCC CCCTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(186): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GTGGGAGGAAGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGC GGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	73	0.0137	193	c.207 others(210): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCC CCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCC CCCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(186): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	62	0.0161	193	c.100 others(212): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(186): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02698.hp1 HG02896.hp2 others(1): Show HG02280.hp2 HG02698.hp1 HG02896.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0001c0001t0072 a0001c0001t0128 others(1): Show a0001c0001t0004 a0001c0001t0072 a0001c0001t0128 a0003c0005t0129	a0001c0001t0004g0016 a0001c0001t0072g0001 a0001c0001t0128g0208 others(1): Show a0001c0001t0004g0016 a0001c0001t0072g0001 a0001c0001t0128g0208 a0003c0005t0129g0041	4	153	0.0261	193	c.625 others(210): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(186): Show AAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGG AGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0045 a0001c0002t0003g0045	1	43	0.0233	193	c.234 others(210): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCT TCCTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC141_chr2_178824757_179055137	179015540	T T	TATATATC others(186): Show TATATATCTCATATATCTCATATATATGATATATATATCTCATATATCTC ATATATATGATATATATATCTCATATATCTCATATATATGATATATATAT CTCATATATCTCATATATATGATATATATCTCATATATCTCATATATATG ATATATATATCTCATATATATGATATATATATCTCATATATCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0049 a0002c0003t0049	a0002c0003t0049g0266 a0002c0003t0049g0266	1	272	0.0037	193	c.225 others(212): Show c.225+31743_225+31744insGAGATATATGAGATATATATATCATA TATATGAGATATATATATCATATATATGAGATATATGAGATATATATCAT ATATATGAGATATATGAGATATATATATCATATATATGAGATATATGAGA TATATATATCATATATATGAGATATATGAGATATATATATCATATATATG AGATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(186): Show CCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCT CCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	193	c.-22 others(204): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGG AAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(186): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCT CCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	18	0.0556	193	c.-22 others(204): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(186): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCC TCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCT CCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	18	0.0556	193	c.-22 others(204): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(186): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCT CCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	193	c.-22 others(204): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCM2_chr7_44995201_45081453	45078372	C C	CATTCTGG others(186): Show CATTCTGGCTGTCATTAGTCCAAGATTCCAAACATCTGGAATGGGGCCCC CTGTTTCTATTGAGAATCACTGGTCAGTACTAATTGTGAAATCCTTGATG TCAAAGGACATGTTCTGTTTTATACTTCTTATTTCTGCCTCACCATGTCA AATAACAATGAAAAATAAAATTGAAAATATACTGACTTCATCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0042 a0002c0005t0002g0042	1	314	0.0032	193	c.23 others(204): Show c.2315_*2316insATTCTGGCTGTCATTAGTCCAAGATTCCAAACAT CTGGAATGGGGCCCCCTGTTTCTATTGAGAATCACTGGTCAGTACTAATT GTGAAATCCTTGATGTCAAAGGACATGTTCTGTTTTATACTTCTTATTTC TGCCTCACCATGTCAAATAACAATGAAAAATAAAATTGAAAATATACTGA CTTCATCAA	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		1920		chr7	TogoVar
CDH4_chr20_61247261_61945617	61282984	C C	CGTGTGAT others(186): Show CGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGATGTACG TGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCAC GCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGT GGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	19	0.0526	193	c.169 others(212): Show c.169+28089_169+28090insATGTACGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTACGTGCGTTTGCACGC GCGTGCTGTGGCGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61329441	T T	TCCCCTCG others(186): Show TCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTG CTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGATCCTCATGGTTCC CCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGC GGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp1 HG01099.hp2 others(16): Show HG00423.hp1 HG01099.hp1 HG01099.hp2 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG02109.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG04204.hp1 NA18941.hp1 NA18952.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0002c0002 a0002c0004 a0002c0016 a0002c0026 a0003c0017 a0003c0018 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0003t0035 a0001c0003t0040 a0001c0006t0045 a0001c0011t0005 a0002c0002t0003 a0002c0002t0014 a0002c0004t0021 a0002c0016t0003 a0002c0026t0010 a0003c0017t0002 a0003c0018t0043 a0005c0019t0001	a0001c0001t0001g0049 a0001c0001t0002g0080 a0001c0001t0013g0106 others(16): Show a0001c0001t0001g0049 a0001c0001t0002g0080 a0001c0001t0013g0106 a0001c0001t0015g0083 a0001c0001t0016g0064 a0001c0003t0035g0043 a0001c0003t0040g0073 a0001c0006t0045g0070 a0001c0011t0005g0003 a0001c0011t0005g0101 a0002c0002t0003g0076 a0002c0002t0003g0087 a0002c0002t0014g0072 a0002c0004t0021g0050 a0002c0016t0003g0042 a0002c0026t0010g0078 a0003c0017t0002g0053 a0003c0018t0043g0052 a0005c0019t0001g0018	19	40	0.4750	193	c.169 others(212): Show c.169+74508_169+74509insTCGTGGGTCTGGGACGCGGGTCGAGG TGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCA CCCAGATCCTCATGGTTCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGC TTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCA GGTCCTCATGGTCCCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(186): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGA GGGGAGAGAGGGAGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAA GGAAGGAGGGAAGGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0250 a0002c0007t0013g0250	1	161	0.0062	193	c.-12 others(210): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCTCC TCCCCCTACCCTCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881827	C C	CATCTATA others(186): Show CATCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTA TATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGA TATATAGATGCATCTATATATCTATATAGATGCATCTATATAGATATATA GATGCATCTATATAGATATATAGATGCATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA21309.hp2 NA19030.hp2 NA21309.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0030 a0005c0008t0006g0088 a0005c0008t0006g0030 a0005c0008t0006g0088	2	434	0.0046	193	c.13 others(204): Show c.1349_*1350insTATATATCTATATAGATGCATCTATATATCTATA TAGATGCATCTATATATCTATATAGATGCATCTATATAGATATATAGATG CATCTATATATCTATATAGATGCATCTATATATCTATATAGATGCATCTA TATATCTATATAGATGCATCTATATATCTATATAGATGCATCTATATATC TATATAGAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		451		chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198808	T T	TGCTTACG others(186): Show TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTC CCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGC GTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	398	0.0025	193	c.172 others(210): Show c.172-1516_172-1515insCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG CTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGT GACGGCGCGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHODL_chr21_18239833_18272370	18251684	A A	AAAATATT others(186): Show AAAATATTTATTTTTTTATTTTAATATATAAAATATTTATTTATTTTAAT ATATAAAATATTTTTTTATTTTAATATATAAAATAAATATTTATTTTATT TATTTATTTTAATATATAAAATAAATATTTATTTTATTTATTTTAATATA TAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 HG02630.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0294 a0001c0001t0018g0293 a0001c0001t0005g0294 a0001c0001t0018g0293	2	396	0.0051	193	c.80- others(208): Show c.80-4820_80-4819insTTTATTTTTTTATTTTAATATATAAAATAT TTATTTATTTTAATATATAAAATATTTTTTTATTTTAATATATAAAATAA ATATTTATTTTATTTATTTATTTTAATATATAAAATAAATATTTATTTTA TTTATTTTAATATATAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(186): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACACGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0097 a0003c0097	a0003c0097t0001 a0003c0097t0001	a0003c0097t0001g0037 a0003c0097t0001g0037	1	128	0.0078	193	c.106 others(212): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACACGGC GGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(186): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp1 others(41): Show HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01346.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18612.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18990.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19074.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0013	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0024 a0001c0034 a0001c0036 a0001c0066 a0001c0070 a0001c0087 a0001c0090 a0002c0021 a0003c0096 a0009c0014 a0013c0062	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(15): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0024t0001 a0001c0034t0001 a0001c0036t0004 a0001c0066t0005 a0001c0070t0003 a0001c0087t0002 a0001c0090t0001 a0002c0021t0002 a0003c0096t0003 a0009c0014t0001 a0013c0062t0002	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0289 others(41): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0289 a0001c0002t0002g0090 a0001c0002t0002g0117 a0001c0003t0001g0013 a0001c0003t0001g0041 a0001c0003t0001g0049 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0092 a0001c0003t0001g0156 a0001c0003t0001g0190 a0001c0003t0001g0206 a0001c0003t0001g0225 a0001c0003t0001g0228 a0001c0003t0001g0249 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0261 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0005t0002g0221 a0001c0005t0002g0227 a0001c0005t0002g0235 a0001c0005t0002g0272 a0001c0005t0003g0213 a0001c0005t0006g0157 a0001c0005t0007g0254 a0001c0005t0007g0255 a0001c0024t0001g0232 a0001c0024t0001g0290 a0001c0034t0001g0050 a0001c0036t0004g0018 a0001c0066t0005g0036 a0001c0070t0003g0026 a0001c0087t0002g0068 a0001c0090t0001g0251 a0002c0021t0002g0001 a0003c0096t0003g0020 a0009c0014t0001g0258 a0009c0014t0001g0266 a0009c0014t0001g0271 a0013c0062t0002g0075	44	171	0.2573	193	c.106 others(212): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(186): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0278 a0001c0004t0001g0089 a0001c0004t0001g0278	2	129	0.0155	193	c.106 others(212): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45431519	A A	AGGGGGGC others(186): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0004 a0001c0036t0004	a0001c0036t0004g0019 a0001c0036t0004g0019	1	289	0.0035	193	c.106 others(212): Show c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGG ACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGA GGGGGGGCAGGCAGGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(186): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAAGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	299	0.0067	193	c.85- others(210): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCTTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A6_chr3_130512177_130682042	130636803	T T	TCCCCTTC others(186): Show TCCCCTTCCTCCTCCCCTCCCCCTCCCCTTCCTCCCCCCTTCCTCCCCTT CCCCTTCCTCCCCCTCCCCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCC CTTCCCCTTCCTCCCCCCTTCCTCCCCCTCCCCCTCCCCTTCCCCTTCCT CCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0047 a0047	a0047c0052 a0047c0052	a0047c0052t0005 a0047c0052t0005	a0047c0052t0005g0060 a0047c0052t0005g0060	1	262	0.0038	193	c.509 others(212): Show c.5091+1047_5091+1048insTCCTCCTCCCCTCCCCCTCCCCTTCC TCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCTCCCCCTCCCCTTCCCCT TCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCCTCCC CCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCC TTCCTCCCCCTCCCCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(186): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	256	0.0039	193	c.510 others(212): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(186): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	21	0.0476	193	c.510 others(212): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(186): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	21	0.0476	193	c.510 others(212): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(186): Show GCCCCGCCCCTCCCCGCCCCTCAGTCCGTGGCCCCGCCCCTCCCTGCCCC CTCAGTCCGTGGCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCC CCCCTCCACACCGGGACCTGCCCCCCTCCCACCCGGAGGAGGAACCAGGC CAGATACCTGGAGTCCCCCCCGCCGCCCCTGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	117	0.0085	193	c.927 others(208): Show c.927+237_927+238insTCCCCGCCCCTCAGTCCGTGGCCCCGCCCC TCCCTGCCCCCTCAGTCCGTGGCCCCGCCCCACCCCGCCCCCTCAGTCAG TGGCCCCGCCCCCCTCCACACCGGGACCTGCCCCCCTCCCACCCGGAGGA GGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCTGCCCCCGCCC CCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRELD2_chr22_49913634_49932537	49917986	A A	AGCCCCAG others(186): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCACGTGG GAGGTCCGGCCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCC CCCAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAG GTCCGGCCCCAGGTGGGGAGTTCCGGCCCCAGGTGAGGAGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0141 a0003c0004t0009g0141	1	239	0.0042	193	c.-78 others(202): Show c.-784_-783insGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTC CGGCCCCACGTGGGAGGTCCGGCCCCCAGGTGAGGAGCCCGGCCCCAGGT GAGAGGTCCGGCCCCCAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGG CCCCAGGTGGGAGGTCCGGCCCCAGGTGGGGAGTTCCGGCCCCAGGTGAG GAGCCCG	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding		647		chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647301	A A	ACAATCCT others(186): Show ACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CAATCCTCCTCCACACCCCTCCACAATCCTCCTCCACACCCCTCCACAAT CCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACCCCTCCTCAATCCTCCTCCACACCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0055 a0001c0006t0003g0055	1	213	0.0047	193	c.51 others(204): Show c.5161_*5162insCAATCCTCCTCCACACCCCTCCTCCTCAATCCTC CTCCACACCCCTCCTCAATCCTCCTCCACACCCCTCCACAATCCTCCTCC ACACCCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAATCCTCCTCCAC ACCCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1957		chr15	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(186): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	339	0.0029	193	c.28- others(208): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(186): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02523.hp2 NA18995.hp2 HG01123.hp2 HG02523.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0017 a0001c0002t0027 a0001c0002t0005 a0001c0002t0017 a0001c0002t0027	a0001c0002t0005g0002 a0001c0002t0017g0002 a0001c0002t0027g0002 a0001c0002t0005g0002 a0001c0002t0017g0002 a0001c0002t0027g0002	3	284	0.0106	193	c.-11 others(204): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATATTTTTTTTTT TTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(186): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01496.hp1 HG01261.hp2 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	2	283	0.0071	193	c.-11 others(204): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(186): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA18946.hp2 NA18960.hp1 others(2): Show HG00280.hp2 NA18946.hp2 NA18960.hp1 NA19067.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0017 a0001c0002t0027 a0001c0002t0005 a0001c0002t0017 a0001c0002t0027	a0001c0002t0005g0002 a0001c0002t0017g0002 a0001c0002t0027g0002 a0001c0002t0005g0002 a0001c0002t0017g0002 a0001c0002t0027g0002	5	286	0.0175	193	c.-11 others(204): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(186): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0105 a0001c0002t0005g0105	1	282	0.0035	193	c.-11 others(204): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DGKB_chr7_14140049_14907751	14211403	T T	TTTTACTC others(186): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	125	0.0080	193	c.212 others(214): Show c.2123-33253_2123-33252insTCACAAAACACGAGAGTAAATATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAG TAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211628	A A	ATGTTTTG others(186): Show ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTG TGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTT TACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	128	0.0078	193	c.212 others(214): Show c.2123-33478_2123-33477insCGAGAGTAAAATCACAAAACATGA GAGTAAATATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAA TATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACA AAACATGAGAGTAAATATCACAAAACACGAGAGTAAAATCACAAAACATG AGAGTAAAATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2228370	A A	AGGGAGGA others(186): Show AGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGAAGGAAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGAAGGAGGAGGAAGGAGGGAGGGA GGGAGGGGAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGGAGGGAGGG AGGGCGTGAGGGAGGAGGGAAGGGAGGAGGGAGGGAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	48	0.0208	193	c.805 others(210): Show c.805-7142_805-7141insCTCCTTCCTCCCTCCCTCCTCCCTTCCC TCCTCCCTCACGCCCTCCCTCCCTCCCCTTCCTCCTCCCTCCTTCCTCCT CCCTCCCTCCCCTCCCTCCCTCCCTCCTTCCTCCTCCTTCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314345	G G	GAGGGAAG others(186): Show GAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGA GGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGCA GGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0009 a0009c0011t0009	a0009c0011t0009g0008 a0009c0011t0009g0008	1	41	0.0244	193	c.287 others(212): Show c.287-22743_287-22742insTCCCTCCCTCCCTCCCTCCTTCCCTC CCTCCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCTTCCCTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTC CTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCC TCCCTCCCTCCTTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	516502	G G	GGAGGGGG others(186): Show GGAGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAG GGGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACGGG GTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAG GGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0048 a0001c0004t0003g0048	1	83	0.0120	193	c.86- others(210): Show c.86-29973_86-29972insTACCCCCTGTCCCCCCCCACCCTACCCC GTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCC CCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCCTGTCCCC CCCTTACCCCCTTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCCCTTC GCCCCTTCCCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516830	G G	GGGGGGGG others(186): Show GGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAG GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGGGGGTAG GGTGGGGGGGACAGGGGGTAGGGTGGGGGGGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	79	0.0127	193	c.86- others(210): Show c.86-30301_86-30300insACCCTACCCCGTCCCCCCCCACCCTACC CCCTGTCCCCCCCACCCTACCCCCTGTCCCCCCCACCCTACCCCCTGTCC CCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCC ACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTA CCCCGTGTCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556272	A A	ACCCCTCC others(186): Show ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCA CCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA20300.hp1 HG01975.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0017 a0001c0006 a0001c0017	a0001c0006t0001 a0001c0017t0002 a0001c0006t0001 a0001c0017t0002	a0001c0006t0001g0034 a0001c0017t0002g0065 a0001c0006t0001g0034 a0001c0017t0002g0065	2	61	0.0328	193	c.86- others(210): Show c.86-69743_86-69742insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG GTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3741020	C C	CCACCACC others(186): Show CCACCACCACCACCACCATCACCTCACCACCACCACCACCATCACCTCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCACCACATCACCT CACCACCACCACCACCATCACCACCACCATCACCACCATCACCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	59	0.0169	193	c.135 others(212): Show c.1350+1314_1350+1315insAGGTGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGAGGTGATGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTGAGGTGA TGGTGGTGGTGGTGGTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar

Search by Variant

Search

Search Results