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
CACNA1C_chr12_2047987_2702950	2070909	C C	CTCCTTCC others(100): Show CTCCTTCCTTCCTCCTTCCTTCCCTTTCCCCTTTCCCCTTCCCTCCCTCC CTCCCTGCCTGCCTGCCTTCCTTCCTTCTCTCTCTCCTTCCTTCCTTCTC TCTCTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 NA19043.hp1 HG01891.hp1 HG02809.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0039 a0001c0001 a0001c0018 a0001c0039	a0001c0001t0002 a0001c0018t0042 a0001c0039t0041 a0001c0001t0002 a0001c0018t0042 a0001c0039t0041	a0001c0001t0002g0027 a0001c0018t0042g0083 a0001c0039t0041g0047 a0001c0001t0002g0027 a0001c0018t0042g0083 a0001c0039t0041g0047	3	104	0.0289	107	c.49+ others(124): Show c.49+17398_49+17399insCTCTCCTTCCTTCCTTCCTCCTTCCTTC CCTTTCCCCTTTCCCCTTCCCTCCCTCCCTCCCTGCCTGCCTGCCTTCCT TCCTTCTCTCTCTCCTTCCTTCCTTCTCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107048	T T	TGTCCTGA others(100): Show TGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGGGTTTCCACCTCAGCT GGGCATCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCA GCTGGGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0035 a0002c0013t0035	a0002c0013t0035g0035 a0002c0013t0035g0035	1	104	0.0096	107	c.50- others(122): Show c.50-8168_50-8167insGCCACTGGGCGCCCACCCTGGAGAGGGTTT CCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGG TTTCCACCTCAGCTGGGGCGTCCTGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG7_chr19_53904278_53948950	53922010	G G	GCCTCAGG others(100): Show GCCTCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGG ACTTGCCCCAGGCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTG GTGGAGTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	364	0.0028	107	c.424 others(124): Show c.424+6505_424+6506insCCTCAGGTCTGGTCATTGGTGGACTTGC CCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGT CGTCCCCAGGTCTGGTCATTGGTGGAGTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743367	G G	GCCCAGCC others(100): Show GCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0004 a0012c0020t0004	a0012c0020t0004g0041 a0012c0020t0004g0041	1	342	0.0029	107	c.238 others(122): Show c.238-266_238-265insGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGGCTGGG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCT others(100): Show CCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTC GTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCCAC GTCGTCGT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19079.hp1 NA19059.hp1 NA19079.hp1	a0001 a0040 a0001 a0040	a0001c0061 a0040c0030 a0001c0061 a0040c0030	a0001c0061t0002 a0040c0030t0002 a0001c0061t0002 a0040c0030t0002	a0001c0061t0002g0176 a0040c0030t0002g0198 a0001c0061t0002g0176 a0040c0030t0002g0198	2	410	0.0049	107	c.-22 others(124): Show c.-22-1926_-22-1925insTCACGTCGTCGTCTCCCCTCACGTCGTC GTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCCACGTC GTCGTCTCCCCTCACGTCGTCGTCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25459269	T T	TCTTTCTT others(100): Show TCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0180 a0001c0002t0005g0180	1	186	0.0054	107	c.615 others(124): Show c.615-6604_615-6603insCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88967117	A A	ACCCCCGA others(100): Show ACCCCCGAGGTGCCACTCGGCCCCGACACGCGGCAGCACCATGCCACCCC CCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGCAGCGCCATGCCAC CCCCCCAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	284	0.0035	107	c.151 others(124): Show c.151+9433_151+9539dupCTGGGGGGGTGGCATGGCGCTGCCTCGT GTCGGGGCCGAGTGGCACCTCGGGGGCTGGGGGGTGGCATGGTGCTGCCG CGTGTCGGGGCCGAGTGGCACCTCGGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88967162	A A	ACCCCCCA others(100): Show ACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGCAGCGCCAT GCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGCAGCGC CATGCCAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	284	0.0035	107	c.151 others(124): Show c.151+9494_151+9495insGTGGCATGGCGCTGCCTCGTGTCGGGGC CGAGTGGCACCTCGGGGGCTGGGGGGTGGCATGGCGCTGCCTCGTGTCGG GGCCGAGTGGCACCTCGGGGGCTGGGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC63_chr12_110841987_110912535	110867060	A A	AGTAGGGG others(100): Show AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCAGACGGGGCGGCT GGCTGGGCAGGGGGGCTGACCCCCCCCACCTCCCTACCGGACGGGGCGGG CTGGCCGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	288	0.0035	107	c.370 others(124): Show c.370-6730_370-6729insTGGGCAGGGGGGCTGACCCCCCCCACCT CCCTACCGGACGGGGCGGGCTGGCCGGGTAGGGGCGGCCGGGCAGAGGCA CCCCTCACCTCCCAGACGGGGCGGCTGGC	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28359764	T T	TAAAATGG others(100): Show TAAAATGGCAGAATATTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0204 a0010c0011t0001g0204	1	242	0.0041	107	c.577 others(124): Show c.577-2655_577-2654insTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGAAAATGGCAGAATATTTCT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCZ1B_chr7_6793937_6831275	6797861	A A	AAATACAC others(100): Show AAATACACACACACACACACACACACACACACACACACACACATATACAT ACACACACACACACACATATATATACACACACATATATATATACACACAC ACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0092 a0003c0004t0003g0092	1	354	0.0028	107	c.13 others(118): Show c.1362_*1363insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1075		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(100): Show ATACACACACACACACACACACACACACACACACACACACACATATACAT ACACACACACACACACATATATATACACACACATATATATATACACACAC ACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG01169.hp1 others(1): Show HG00735.hp1 HG01168.hp2 HG01169.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0125 a0002c0003t0003g0145 a0002c0003t0003g0146 others(1): Show a0002c0003t0003g0125 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0152	4	354	0.0113	107	c.13 others(118): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(100): Show ATACACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATATACACACACATATATATATACACACAC ACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0107 a0002c0003t0003g0107	1	354	0.0028	107	c.13 others(118): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CDCA7L_chr7_21895899_21950899	21914063	G G	GACCATAA others(100): Show GACCATAAGCAAATAACACATCAGAGGAGAAGCTAACATAGGTGGATAAA CTTATTTTGAAGTCCATGTGACATGGAAGAAACAGACCAGAGAGCAATGG CCTGTTGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18970.hp2 NA19003.hp2 others(1): Show NA18942.hp1 NA18970.hp2 NA19003.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0158 a0001c0002t0003g0164 a0001c0002t0003g0018 a0001c0002t0003g0158 a0001c0002t0003g0164	4	432	0.0093	107	c.166 others(124): Show c.166-2416_166-2310dupTCAACAGGCCATTGCTCTCTGGTCTGTT TCTTCCATGTCACATGGACTTCAAAATAAGTTTATCCACCTATGTTAGCT TCTCCTCTGATGTGTTATTTGCTTATGGT	CDCA7L	ENSG00000164649.20	transcript	ENST00000406877.8	protein_coding	2/9			chr7	TogoVar
CDH4_chr20_61247261_61945617	61283441	T T	TGTGATGT others(100): Show TGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGTGATGTGTGTG CGTTTGCACGCGTGTGCTGTGGTGTGTGATGTGTGTGCGTTTGCACGCGT GTGCTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	106	0.0094	107	c.169 others(126): Show c.169+28507_169+28508insATGTGTGTGCGTTTGCACGCGTGTGC TGTGGTGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGTGAT GTGTGTGCGTTTGCACGCGTGTGCTGTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(100): Show AAAAAAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGT ATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTT ACTATAAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03486.hp2 NA18940.hp1 others(1): Show HG02056.hp2 HG03486.hp2 NA18940.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0026 a0001c0001t0001g0107 a0001c0001t0004g0136 a0001c0001t0001g0026 a0001c0001t0001g0107 a0001c0001t0004g0136	4	362	0.0111	107	c.478 others(124): Show c.478-1174_478-1173insAAAAAGATGGTCCTGAGTTGATAATTGA AACTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGT ATGTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPVL3_chrX_51612020_51623912	51621690	T T	TTCTTCTT others(100): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	107	c.-28 others(118): Show c.-2818_-2817insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2779		chrX	TogoVar
CEP72_chr5_607340_658553	650965	G G	GACTGTGA others(100): Show GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG02258.hp2 others(3): Show HG01255.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 NA18948.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0006t0001g0012 a0001c0006t0001g0024	6	91	0.0659	107	c.177 others(126): Show c.1779-2023_1779-2022insACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP74_chr1_1916957_2008786	1948934	T T	TCCCTCCC others(100): Show TCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTCCCTTCCTCTTTCCTTCC TTCCTTTCCCTCCCTTACTCCTTCCTTCCTTCCCTTCCCCTTCCTTCTTC CTTCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0250 a0002c0006t0001g0250	1	278	0.0036	107	c.217 others(126): Show c.2177-1881_2177-1880insGAGAGAAGGAAGAAGGAAGGGGAAGG GAAGGAAGGAAGGAGTAAGGGAGGGAAAGGAAGGAAGGAAAGAGGAAGGG AGGGAGGGAAAGGGAAGGAAAGAAGGGAGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1948934	T T	TCCCTCCC others(100): Show TCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTCCCTTCCTTCCTCTTTCC TTCCTTCCTCTCCCTTACTCCTTCCTTCCTTCCCTTCCCCTTCCTTCTTC CTTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01175.hp2 others(30): Show HG00323.hp2 HG00738.hp1 HG01175.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18944.hp1 NA18981.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0009 a0013 a0024 a0032 a0035 a0039 a0044 a0059 a0073	a0001c0009 a0001c0018 a0001c0030 others(19): Show a0001c0009 a0001c0018 a0001c0030 a0001c0031 a0002c0001 a0002c0006 a0002c0020 a0002c0059 a0003c0004 a0003c0012 a0005c0053 a0009c0019 a0013c0029 a0013c0048 a0013c0054 a0024c0050 a0032c0117 a0035c0064 a0039c0098 a0044c0109 a0059c0089 a0073c0108	a0001c0009t0008 a0001c0018t0002 a0001c0030t0001 others(20): Show a0001c0009t0008 a0001c0018t0002 a0001c0030t0001 a0001c0031t0001 a0002c0001t0001 a0002c0006t0001 a0002c0020t0001 a0002c0059t0001 a0003c0004t0002 a0003c0012t0002 a0003c0012t0006 a0005c0053t0001 a0009c0019t0001 a0013c0029t0001 a0013c0048t0001 a0013c0054t0001 a0024c0050t0009 a0032c0117t0002 a0035c0064t0001 a0039c0098t0002 a0044c0109t0005 a0059c0089t0001 a0073c0108t0002	a0001c0009t0008g0015 a0001c0018t0002g0026 a0001c0018t0002g0027 others(30): Show a0001c0009t0008g0015 a0001c0018t0002g0026 a0001c0018t0002g0027 a0001c0030t0001g0154 a0001c0031t0001g0005 a0001c0031t0001g0075 a0002c0001t0001g0050 a0002c0001t0001g0148 a0002c0006t0001g0080 a0002c0006t0001g0243 a0002c0020t0001g0016 a0002c0059t0001g0230 a0003c0004t0002g0032 a0003c0004t0002g0079 a0003c0004t0002g0146 a0003c0004t0002g0227 a0003c0004t0002g0245 a0003c0004t0002g0258 a0003c0012t0002g0193 a0003c0012t0006g0167 a0005c0053t0001g0047 a0009c0019t0001g0257 a0013c0029t0001g0012 a0013c0029t0001g0127 a0013c0048t0001g0087 a0013c0054t0001g0123 a0024c0050t0009g0271 a0032c0117t0002g0173 a0035c0064t0001g0021 a0039c0098t0002g0003 a0044c0109t0005g0024 a0059c0089t0001g0132 a0073c0108t0002g0001	33	278	0.1187	107	c.217 others(126): Show c.2177-1881_2177-1880insGAGAGAAGGAAGAAGGAAGGGGAAGG GAAGGAAGGAAGGAGTAAGGGAGAGGAAGGAAGGAAAGAGGAAGGAAGGG AGGGAGGGAAAGGGAAGGAAAGAAGGGAGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1948934	T T	TCCCTCCC others(100): Show TCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTCCCTTCCTTCCTCTTTCC TTCCTTCCTTTCCCTCCCTTACTCCTTCCTTCCCTTCCCCTTCCTTCTTC CTTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(65): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0006 others(19): Show a0001 a0003 a0006 a0008 a0010 a0014 a0016 a0021 a0022 a0025 a0029 a0030 a0040 a0048 a0050 a0051 a0054 a0058 a0060 a0064 a0067 a0068	a0001c0003 a0001c0010 a0001c0024 others(31): Show a0001c0003 a0001c0010 a0001c0024 a0001c0027 a0001c0035 a0001c0072 a0001c0073 a0001c0074 a0001c0076 a0003c0004 a0003c0012 a0006c0026 a0008c0014 a0008c0016 a0010c0013 a0010c0057 a0014c0036 a0016c0044 a0021c0028 a0022c0041 a0022c0078 a0025c0062 a0029c0102 a0030c0101 a0040c0063 a0048c0066 a0050c0043 a0051c0103 a0054c0039 a0058c0118 a0060c0075 a0064c0077 a0067c0040 a0068c0113	a0001c0003t0001 a0001c0003t0003 a0001c0010t0001 others(32): Show a0001c0003t0001 a0001c0003t0003 a0001c0010t0001 a0001c0024t0001 a0001c0027t0001 a0001c0035t0002 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0076t0001 a0003c0004t0002 a0003c0012t0002 a0006c0026t0001 a0008c0014t0001 a0008c0016t0001 a0010c0013t0001 a0010c0057t0001 a0014c0036t0001 a0016c0044t0001 a0021c0028t0002 a0022c0041t0001 a0022c0078t0001 a0025c0062t0001 a0029c0102t0001 a0030c0101t0001 a0040c0063t0001 a0048c0066t0001 a0050c0043t0001 a0051c0103t0001 a0054c0039t0007 a0058c0118t0002 a0060c0075t0001 a0064c0077t0001 a0067c0040t0001 a0068c0113t0001	a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0097 others(65): Show a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0116 a0001c0003t0001g0166 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0203 a0001c0003t0001g0210 a0001c0003t0001g0221 a0001c0003t0001g0235 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0003g0053 a0001c0010t0001g0141 a0001c0010t0001g0142 a0001c0010t0001g0159 a0001c0010t0001g0265 a0001c0010t0001g0278 a0001c0024t0001g0010 a0001c0024t0001g0277 a0001c0027t0001g0168 a0001c0027t0001g0186 a0001c0035t0002g0121 a0001c0035t0002g0147 a0001c0072t0001g0259 a0001c0073t0001g0214 a0001c0074t0001g0071 a0001c0076t0001g0077 a0003c0004t0002g0074 a0003c0012t0002g0054 a0006c0026t0001g0267 a0006c0026t0001g0270 a0008c0014t0001g0043 a0008c0014t0001g0044 a0008c0014t0001g0059 a0008c0014t0001g0165 a0008c0016t0001g0111 a0008c0016t0001g0122 a0008c0016t0001g0125 a0010c0013t0001g0135 a0010c0013t0001g0213 a0010c0013t0001g0224 a0010c0013t0001g0228 a0010c0057t0001g0220 a0014c0036t0001g0163 a0014c0036t0001g0276 a0016c0044t0001g0272 a0021c0028t0002g0056 a0021c0028t0002g0249 a0022c0041t0001g0063 a0022c0078t0001g0093 a0025c0062t0001g0223 a0029c0102t0001g0204 a0030c0101t0001g0151 a0040c0063t0001g0025 a0048c0066t0001g0246 a0050c0043t0001g0139 a0051c0103t0001g0237 a0054c0039t0007g0244 a0058c0118t0002g0144 a0060c0075t0001g0062 a0064c0077t0001g0088 a0067c0040t0001g0189 a0068c0113t0001g0040	68	278	0.2446	107	c.217 others(126): Show c.2177-1881_2177-1880insGAGAGAAGGAAGAAGGAAGGGGAAGG GAAGGAAGGAGTAAGGGAGGGAAAGGAAGGAAGGAAAGAGGAAGGAAGGG AGGGAGGGAAAGGGAAGGAAAGAAGGGAGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1948934	T T	TCCCTCCC others(100): Show TCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTCCCTTCCTTCCTCTTTCC TTCCTTCCTTTCCCTTACTCCTTCCTTCCTTCCCTTCCCCTTCCTTCTTC CTTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0046 a0005c0046	a0005c0046t0001 a0005c0046t0001	a0005c0046t0001g0066 a0005c0046t0001g0066	1	278	0.0036	107	c.217 others(126): Show c.2177-1881_2177-1880insGAGAGAAGGAAGAAGGAAGGGGAAGG GAAGGAAGGAAGGAGTAAGGGAAAGGAAGGAAGGAAAGAGGAAGGAAGGG AGGGAGGGAAAGGGAAGGAAAGAAGGGAGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1948942	T T	TCTTTCCT others(100): Show TCTTTCCTTCCCTTTCCCTCCCTCCCTTCCTTCCTCTTTCCTTCCTTTCC TTTCCCTCCCTTACTCCTTCCTTCCCTTCCCCTTCCTTCTTCCTTCTCTC CCTCCCTC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0162 a0001c0024t0001g0162	1	278	0.0036	107	c.217 others(126): Show c.2177-1889_2177-1888insGAGGGAGGGAGAGAAGGAAGAAGGAA GGGGAAGGGAAGGAAGGAGTAAGGGAGGGAAAGGAAAGGAAGGAAAGAGG AAGGAAGGGAGGGAGGGAAAGGGAAGGAAAG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109756922	A A	AAAGAAAG others(100): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0311 a0002c0003t0001g0311	1	354	0.0028	107	c.904 others(122): Show c.904+840_904+841insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756930	A A	AAAGAAAG others(100): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	354	0.0028	107	c.904 others(122): Show c.904+832_904+833insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CLN8_chr8_1758789_1791570	1763601	G G	GCGCCCCG others(100): Show GCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGC CGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG CCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	413	0.0024	107	c.-40 others(116): Show c.-408_-407insCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCG CCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGC GCCCCGCCCCCCGCCGCGCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		187		chr8	TogoVar
CLTCL1_chr22_19174473_19296719	19202402	C C	CCGCCATC others(100): Show CCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGC ACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC CCCTCCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp1 NA18947.hp2 others(9): Show HG02080.hp1 HG02083.hp1 NA18947.hp2 NA18957.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp2 NA19000.hp1 NA19012.hp2 NA19054.hp2 NA19065.hp2 NA19077.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0298 a0005c0007t0006g0300 a0005c0007t0006g0301 others(9): Show a0005c0007t0006g0298 a0005c0007t0006g0300 a0005c0007t0006g0301 a0005c0007t0006g0302 a0005c0007t0006g0303 a0005c0007t0006g0304 a0005c0007t0006g0305 a0005c0007t0006g0306 a0005c0007t0006g0307 a0005c0007t0006g0308 a0005c0007t0006g0309 a0005c0007t0006g0310	12	346	0.0347	107	c.360 others(124): Show c.3601-910_3601-909insAAGGAGGGGTGGTGCGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNOT3_chr19_54132762_54160681	54133953	C C	CCTCCCTC others(100): Show CCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACC TCCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	223	0.0045	107	c.-40 others(118): Show c.-4091_-4090insCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACC TCCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCTCCACC TTCCCTCTCTCCACCTCCCCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3808		chr19	TogoVar
COLEC11_chr2_3590112_3649644	3592319	C C	CGAGAGGG others(100): Show CGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0358 a0003c0012t0001g0358	1	378	0.0027	107	c.-28 others(118): Show c.-2876_-2875insGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2792		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(100): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCGCTCCCTC TCCCCTCTCTCCCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCT CTCTCCCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	350	0.0029	107	c.510 others(126): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCGCTCCCTCTCCCCTCTCTCCCTCTCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COPE_chr19_18894514_18924387	18902821	G G	GAAAGGAA others(100): Show GAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	330	0.0030	107	c.735 others(122): Show c.735+446_735+447insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTTCCTTCCTTCCTTCCTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGGAA others(100): Show GAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	330	0.0030	107	c.735 others(122): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCCTTCCTTCCTTCCTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902828	G G	GGAAGGAA others(100): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	330	0.0030	107	c.735 others(122): Show c.735+439_735+440insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTC	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPED1_chr7_120983711_121302442	121047716	T T	TTCCTCTT others(100): Show TTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCTTATTCT TATTCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0053 a0001c0008t0006g0053	1	140	0.0071	107	c.540 others(122): Show c.540+724_540+725insCCTCTTCCTCTTCCTCTTCCTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTATTCTTATTCTTATTCTTATTCTTATTCT TATTCTTATTCTTATTCTTATTCTTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX1_chr4_779957_831129	826439	G G	GCGGGGGG others(100): Show GCGGGGGGTGGACCCGGGGCGGGGGCGGGGGCGGGGGTGGACCCGGGGGC GGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGGGGCGGGGGCGG GGGTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	416	0.0024	107	c.-47 others(116): Show c.-474_-473insGTCCACCCCCGCCCCCGCCCCCGCCCCCGCCCCGGG TCCACCCCCCGCCCCCGCCCCCGCCCCCGGGTCCACCCCCGCCCCCGCCC CCGCCCCGGGTCCACCCCCCG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		311		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(100): Show GCCCCGCCCCCCTCCACACCGGGACCCGCCCCCCGCCCACCCGGAGGAGG AACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCCGCCCCCGCCCCC GCCCCCGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	348	0.0029	107	c.927 others(122): Show c.927+238_927+239insCTCCACACCGGGACCCGCCCCCCGCCCACC CGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCCGCC CCCGCCCCCGCCCCCGCCCCCGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCGT others(100): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGA TACACGGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	348	0.0029	107	c.928 others(122): Show c.928-470_928-469insACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCC ACAGATACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924776	G G	GCCCCCAC others(100): Show GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCAACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0028 a0014c0014t0001g0028	1	350	0.0029	107	c.489 others(122): Show c.489-933_489-932insGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBG1_chr6_106355717_106577017	106483401	T T	TATATATA others(100): Show TATATATATATGTATATATATATATATATATATATATATATGTATATATA TATATATATATATATATGTATATATATATATATATATATATATATATATA TATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0004 a0004	a0004c0060 a0004c0060	a0004c0060t0002 a0004c0060t0002	a0004c0060t0002g0171 a0004c0060t0002g0171	1	272	0.0037	107	c.313 others(126): Show c.313-28028_313-28027insTATATATATGTATATATATATATATA TATATATATATATGTATATATATATATATATATATATATGTATATATATA TATATATATATATATATATATATATATATAA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461849	A A	AGCCACAT others(100): Show AGCCACATTCGCCATGGGGGGCATATCCGCACAGCACCCACATTCCCCAT GGAGGGCCTATCCACACAGCAGCCACATTCACCATGGGGGAGGCGTATCC GCACAATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0030 a0011c0020t0030	a0011c0020t0030g0182 a0011c0020t0030g0182	1	238	0.0042	107	c.635 others(124): Show c.635-3208_635-3207insCATTGTGCGGATACGCCTCCCCCATGGT GAATGTGGCTGCTGTGTGGATAGGCCCTCCATGGGGAATGTGGGTGCTGT GCGGATATGCCCCCCATGGCGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967647	G G	GCCACCCT others(100): Show GCCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCC CCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCCAGGCT GCCCCCGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	382	0.0026	107	c.-26 others(126): Show c.-265-1768_-265-1767insCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTTC AGTTCTGCAGGTGGGGCTCCTCCTTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CST8_chr20_23486117_23501010	23490409	T T	TTATATAT others(100): Show TTATATATAAAATATATATAATTTATATATAGAAATTATATATAAAATAT ATATAATTTATATATAGAAATTATATATAAAATATATATAATTTATATAT AGAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	440	0.0023	107	c.-10 others(118): Show c.-1077_-1076insTATATATAAAATATATATAATTTATATATAGAAA TTATATATAAAATATATATAATTTATATATAGAAATTATATATAAAATAT ATATAATTTATATATAGAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		707		chr20	TogoVar
CST8_chr20_23486117_23501010	23490409	T T	TTATATAT others(100): Show TTATATATAAAATATATATAATTTATATATATAAATTATATATAAAATAT ATATAATTTATATATATAAATTATATATAAAATATATATAATTTATATAT AGAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18953.hp2 HG02040.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	440	0.0046	107	c.-10 others(118): Show c.-1077_-1076insTATATATAAAATATATATAATTTATATATATAAA TTATATATAAAATATATATAATTTATATATATAAATTATATATAAAATAT ATATAATTTATATATAGAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		707		chr20	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(100): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0129 a0001c0015t0002g0129	1	230	0.0044	107	c.140 others(126): Show c.1407+1095_1407+1096insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(100): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20905.hp2 HG01433.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0056 a0001c0001t0002g0062	2	230	0.0087	107	c.140 others(126): Show c.1407+1095_1407+1096insCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(100): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0192 a0001c0003t0007g0192	1	230	0.0044	107	c.140 others(126): Show c.1407+1095_1407+1096insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(100): Show AAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0197 a0001c0003t0050g0197	1	230	0.0044	107	c.140 others(126): Show c.1407+1095_1407+1096insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251007	A A	ACCCCCAC others(100): Show ACCCCCACACACCCCCCACACCACACATCCCTCACACCCCACACACCCCC ACACACCCCCCACACCACACATCCCTCACACCACACATCCCTCACACCCC ACACACCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	1	116	0.0086	107	c.207 others(126): Show c.2073+1325_2073+1326insCCCACACACCCCCCACACCACACATC CCTCACACCCCACACACCCCCACACACCCCCCACACCACACATCCCTCAC ACCACACATCCCTCACACCCCACACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132134685	T T	TCCCCGAG others(100): Show TCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0072 a0001c0029t0001g0072	1	334	0.0030	107	c.45 others(118): Show c.4586_*4587insGAGGTAGGAGGAGCGGGCACCGTGGGCACACTCG GGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAG GGGCACCGTGGGCACACTCGGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1908		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136212	C C	CCGGTGCC others(100): Show CCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCCC CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0062 a0001c0001t0026g0062	1	334	0.0030	107	c.30 others(118): Show c.3059_*3060insTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCAC CGTGGGCACACTCGGGGAGGTGGGGGGGAGCGGGCACCGGGGCACACTCG GGAGGTGGGAGGAGCGGGCACCG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		381		chr12	TogoVar

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