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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CHRNA5_chr15_78560520_78600269	78580810	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0194 a0003c0003t0004g0194	1	380	0.0026	0	c.107 others(5): Show c.107-1G>A		CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5						chr15	TogoVar
CHRNG_chr2_232534692_232553115	232542869	T T	TGCCTGCC others(1): Show TGCCTGCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp2 HG02809.hp1 HG03471.hp2 others(2): Show HG02486.hp2 HG02809.hp1 HG03471.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0046 a0001c0001t0005g0052 a0001c0001t0005g0018 a0001c0001t0005g0046 a0001c0001t0005g0052	5	432	0.0116	8	c.605 others(20): Show c.605-10_605-3dupCTGCCCGC		CHRNG	ENSG00000196811.13	transcript	ENST00000651502.1	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
CHST10_chr2_100386860_100422668	100415112	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18972.hp2 NA18980.hp1 NA19003.hp1 others(2): Show NA18972.hp2 NA18980.hp1 NA19003.hp1 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0020 a0001c0002t0001 a0001c0002t0020	a0001c0002t0001g0026 a0001c0002t0001g0121 a0001c0002t0020g0053 a0001c0002t0001g0026 a0001c0002t0001g0121 a0001c0002t0020g0053	5	362	0.0138	0	c.-10 others(6): Show c.-103-1G>A		CHST10	ENSG00000115526.11	transcript	ENST00000264249.8	protein_coding	1/6						chr2	TogoVar
CIB4_chr2_26576205_26646366	26627767	CACCCCTC others(2539): Show CACCCCTCACCCTTTCTCATTATTTTGTCTTCTCCACTCCTGCCTCTATT TCAAGACCCAGCTTTGTGCATTTTCCTCTGTCTCTGTCTGCCCTACAGAT AGGCCTGTCACTTAGGAGGGGCCGTGCAGCCGTGGCTTGAATGACATGTC TGTGCCCCCTCCATGTCCCTTCCTCAGGAGCCAGCCTCCTCCTCCCTGGT ATCCCCAGGCCTCTTCCAAGTGGTGGCCACAGTTCTCAGAGCCCAGTTCG TTCCAAACAGAAACGAAGATGGGCTCTCATTGAACAATGACAAACTGAAG TCATTATTCTGCCAAGAACCGAATGAAAAATAGAGAAGCCTGACGTAGCC ATGATTTGTTAACGTGACATTTCCTCTCAATGCAATGCACAAATTTTAAT TAAAATCTCAGGAGTGATTTTGGAGTCCTTTATTGTGTGCCTCTAGGCTC TTCCAGGCTGCCCTGGGGGAAGGGCAGGGCCTCTTCATAACAGGGATAAA GGCTCAGATAATTGTCCCTAAAGGATTGGGAGGTGGGGGGAGCAGGGACA GCTCAGGCTAGCACTGCCTGTGGGGCCAGGAGTCTTAGAGTGCACATGGT CACTCCCAGCCTCCCCCCACTGCTCTACCCATTTTACAGGTGAGGAAACC AAGACCAGGGAAGGTTTGCCAAGGACCCATCCACAGCAAGGGTGTGTGTT TGTGGGGGGTGGGAGTGTGTTCTAGGTGGTTGGAAGGTGAGATTCAGCCC AGGACAAGTTGTGGAAACTGGGAGGGAATGAGCATTCAACCAGCCTTCTG TGTAACAGGAGCCTCCAGCCCAGGCAGCGCTGGCTGAATTGAGGGCGAGT TGAGGAGAGAGAGGATTGCAAGAGCAGAAATGCAAGCACCCTTCTTTCCT GCAGCCACTCCTGGAGCTGGGAAAAAGGCAGGTTGGGAGGACAGTCTCTG GGCCCCGAGCCCTGCTCCTCCTGTCTTCTCAGAGAAGAACCTGAGAAAAT TCTCAGTCCCTCTAGAAAAGCCCCAGTCCATTGAGGCAGCCTGAGGAGAA GAGAAGGGCTGAGGGACTGGGCCGATGGCTAGGGTGGCACCCTGGCTTCC TCAAGGCCTAATGGTCCTGCAGGGGATCCTGGCCTAGGGTCACTTGCCCT AGTTTGGGGCACAACAGACAGCAGAGGAAACTGGCTGGTGTGGGGTCACT GGGGTGAGGGTTAAGTAAGGAATGAGCAAACAGAGTGGGGTGGACTGCAA GCTGAAGCCCATCTAAAGACCCATAGGCTGGCCTCGGAGGCTGAGCAGCA GGGCCAGTGAGCACCTCCAGATGGGGCCGCCACCTCCCACGGTAAGGCCT GGAGCAGGTCTCATGCCCCATCTGCCCCTGGCCCCACCTGAGAAGTAGTG ACTGTTATCACAGGGTCCTGCTCTAGGACCGAGGTGAGGATGGAGGGAGG CCAGATGCATGCAGGAAGTGTTTGGGAGCCATGTCCTTGCACTCCTCTGC CTGGAGGATCAGGAGCCCCTTGGAGTGAGGTGACCATCCCACAGCACGGA GTGCCCACCTCACCCCACCCCTCCCAGCACCCATCAGCCCATCAGCAGGT CCCACTGATGCTGCCCTTGCCCCACCCACCATCCTGGACTCACCCGCAGA GCTGGCAGGGAGCTGACCTGGTCCATGGTGAGCGTTGCCTCCTTGTAGTA CTTCCCAGGAGGGCAGAGCTTCAGGAAGGTGTCATGGATGCTGAAAAGAG AGGCATGAAGACCGTGTGGCCGGGGAAAGGAGGCCAGCACTGTGTGGCCG GGGAAAGGAGGCCAGCAAGCCTGTCTCCTGCTGCAAGGGGTGGGGGTGTC TCTTTGAGGAAGGAGACTTGGGGTTGGCTGACACAGAAAAGGCAGTAATC AATAATAATAAAGCGCAGTAATAAATATGTCTTCTAGAAACATCCCTGGA CCCTCCAGTGTGCCAGGCACACCATAGAGGATGCAGAGATGAGCCAGGTG AGAGGAAAGTTAGGCGAATATGCCCTGTAGCGAGCAGCACACTCTACGAG GGTTCATCATAGAATGTCAGAACTGAAGGGGCTTATGTCCAGTCCCTCGG TTACGGATGGGGAAGCCAGTAGGACCTTGGGGAAGCCAGGGTCCCCACCT CTGGCCATCTGCCAATTTCCATCCTCAACCCAAGAAAAGAGGTCACTTCG TGGGTCTGAGTGAGCCGGGATTAGAGCCCGGCTGCCTGCAGCCAGCAAAC CACCAGCCTTGCTAGGCCACTTGACAGCAAACTTGGTTGCAGCAGATCGT GGACTGACTGGTCTTCCTAATCATCCCTGTCAGCGATGTCTCTTGTCTAT AGGATCCCATCCCAGTCAAGAGGATTTTGCTTATAAGCTACAGGCAGAGG GTGAAATGGCCGTGTGACCCCTGAGAGTAAGAGGGCGGGAGGGAGCTCTG CCTCAGGCTAAGAGAGGATGAGCCCTCATTGCCTGTCTCTCTCACCCTAT CCTGAACCTGGGTCCCTGTCCACCAGCAAGCTCTTAGGCCTACAGGT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0148 a0004c0008t0002g0148	1	342	0.0029	-2546	c.90- others(15): Show c.90-807_186+1642del		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/7						chr2	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(93): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0322 a0003c0023t0002g0322	1	396	0.0025	-100	c.739 others(110): Show c.739-91_747delCGTCACGCGTGTCTCTGAGCATCGGTCCTTCTGGT CTCCAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGT CTCCAGGAAGGGCCG	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(143): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02622.hp1 HG02622.hp2 HG02622.hp1 HG02622.hp2	a0003 a0003	a0003c0016 a0003c0021 a0003c0016 a0003c0021	a0003c0016t0050 a0003c0021t0013 a0003c0016t0050 a0003c0021t0013	a0003c0016t0050g0153 a0003c0021t0013g0188 a0003c0016t0050g0153 a0003c0021t0013g0188	2	397	0.0050	-150	c.739 others(11): Show c.739-141_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(193): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0021 a0003c0013t0021	a0003c0013t0021g0056 a0003c0013t0021g0056	1	396	0.0025	-200	c.738 others(11): Show c.738+166_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(243): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0108 a0003c0013t0001g0108	1	396	0.0025	-250	c.738 others(11): Show c.738+116_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CLDN12_chr7_90398461_90420954	90412642	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	412	0.0024	0	c.-33 others(5): Show c.-33-2A>C		CLDN12	ENSG00000157224.16	transcript	ENST00000496677.6	protein_coding	3/3						chr7	TogoVar
CLDN2_chrX_106915402_106935861	106928040	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01123.hp2 HG02257.hp1 HG02280.hp1 others(7): Show HG01123.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0081 a0001c0001t0003g0020 a0001c0001t0003g0034 others(3): Show a0001c0001t0001g0081 a0001c0001t0003g0020 a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0001t0003g0092 a0002c0002t0003g0027	10	253	0.0395	1	c.-17 others(7): Show c.-178-3dupT		CLDN2	ENSG00000165376.12	transcript	ENST00000336803.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
CLEC11A_chr19_50718364_50730708	50723904	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02109.hp1 HG02451.hp1 HG02109.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	372	0.0054	0	c.148 others(5): Show c.148-1G>A		CLEC11A	ENSG00000105472.14	transcript	ENST00000250340.9	protein_coding	1/3						chr19	TogoVar
CLEC17A_chr19_14578084_14617035	14585083	TCCTTTCA others(4254): Show TCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTGTGAAT TGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAAAAAAT ATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGTGGTGC AATCATAGCTCACTGCAGCCTTGAGCTCCTGGGTCCAAGCAATCCTCCTA CTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTCTGTAA AGCCTCATGTGAAGCTCAGGGTCTACATATATGACTCATATGACTCTCAG GGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCAAGATGGG TTCCCTGTGACCCTTACGTTCTCATATTCGTGCCCTTGTGTAGTCTCTTC CCACAATGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTG GAGACCATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCT TCTATCTTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGA GAGGCTCACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGT GCATCATCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGAC TTGCAGTCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGC TAGAACTACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGT GAGATAATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAAT TGGTTGTGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATG GAATGTGGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAAT GTTACCACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTT ATCCTATCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGT CTATATAAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTT TTTTTTTCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAA TGGTGCAATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATT CTCCTGACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTG CCCGGCTAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTC AGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCC CAAAGTGCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTA CTTTTTTAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAG TGCAATCATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTC CCACCTCAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCT GGATGGTTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTG CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCC TCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTC TATGTCTCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAA GTTTATCCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAA CTGGGAGCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTT CTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTG AGTTCAAGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGG CAGGCACCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGT TTCACCACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGA CCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACC ACCCCCGGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAG ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTG GGGGCTTCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAG GGAAACAGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGC TACCCCTTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTAT TCTATCTCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGG GCTGGGGCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGG GGCAGCTGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATG GCTGGGCTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGA GGAGGATGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTC CCAAGCCAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGG AACGGGGTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGT CTCCTCTCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCC AGGAGGACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGG TGAGCAGGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGG ACTGAGGGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATG AGTAGACATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAA AGTCCCTGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTG GGCTCCCAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGAC TTGGATCACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAA GTGGTTGTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTA GTCTTGATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAG TTTGAGACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAA AAAAAAAAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTA GTCCCAGCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAG TTCTGGGCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCA TCAATATGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGT CTGAGGAGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGC TGATCAGTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGG GCAGCATAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGA GGTTTTTGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCAT GAGAGATCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGC CTGGTCCTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGT ATATCCCCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAA TATGGTGGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCA CTGCCCCATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTC TACATATATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCT CCAAAAGCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTC TCCAATCCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTT CCCCCTTCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCA TGACCTTACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCC CACCCCATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCC CCATCCTGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCT TCCATCCCTTCC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0094 a0005c0004t0002g0094	1	359	0.0028	-4261	c.121 others(17): Show c.121+1827_199+1830del		CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC17A_chr19_14578084_14617035	14585489	TGACTCAG others(4256): Show TGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTGGAGACC ATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCTTCTATC TTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGAGAGGCT CACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGTGCATCA TCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGACTTGCAG TCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGCTAGAAC TACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGTGAGATA ATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAATTGGTTG TGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATGGAATGT GGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAATGTTACC ACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTTATCCTA TCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGTCTATAT AAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTTTTTTTT TCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAATGGTGC AATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG ACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTGCCCGGC TAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTCAGGCTG GTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGT GCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTACTTTTT TAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAGTGCAAT CATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTCCCACCT CAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCTGGATGG TTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTGCCCAGG CTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAA AGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTCTATGTC TCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAAGTTTAT CCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAACTGGGA GCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTTCTTTCT TTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCAGGCTGG AGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGAGTTCA AGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCAGGCA CCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACC ACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGACCTGCC AGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACCCCC GGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAGATGTGT GTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTGGGGGCT TCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAGGGAAAC AGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGCTACCCC TTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTATTCTATC TCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGGGCTGGG GCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGGGGCAGC TGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATGGCTGGG CTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGAGGAGGA TGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTCCCAAGC CAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGGAACGGG GTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGTCTCCTC TCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCCAGGAGG ACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGGTGAGCA GGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGGACTGAG GGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATGAGTAGA CATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAAAGTCCC TGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTGGGCTCC CAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGACTTGGAT CACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAAGTGGTT GTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTAGTCTTG ATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAGTTTGAG ACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAAAAAAAA AAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTAGTCCCA GCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAGTTCTGG GCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCATCAATA TGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGTCTGAGG AGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGCTGATCA GTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGGGCAGCA TAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGAGGTTTT TGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCATGAGAGA TCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGCCTGGTC CTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGTATATCC CCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAATATGGT GGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCACTGCCC CATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTCTACATA TATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCTCCAAAA GCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTCTCCAAT CCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTTCCCCCT TCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCATGACCT TACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCCCACCCC ATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCCCCATCC TGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCTTCCATC CCTTCCCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTG TGAATTGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAA AAAATATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGT GGTGCAATCATAGCTCACTGCAGCCTTGAGCTCTTGGGTCCAAGCAATCC TCCTACTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTC TGTAAAGCCTCACATGTGAAGCTCAGGGTCTACATATATGACTCATATGA CTCTCAGGGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCA AGATGGGTTCCCTGTGACCTTTACGTTCTCATATTCGTGCCCTTGTGTAG TCTCTTCCCACAAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0129 a0009c0008t0003g0129	1	362	0.0028	-4263	c.122 others(17): Show c.122-1613_200-2018del		CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
CLHC1_chr2_55167547_55237293	55206377	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18947.hp2 NA18983.hp1 NA19074.hp1 NA18947.hp2 NA18983.hp1 NA19074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0213 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0213	3	402	0.0075	1	c.900 others(6): Show c.900-2dupA		CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	8/12						chr2	TogoVar
CLPS_chr6_35789982_35802323	35795278	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0024 a0004c0006t0001g0024	1	416	0.0024	0	c.208 others(5): Show c.208-1G>T		CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding	2/2						chr6	TogoVar
CMYA5_chr5_79684836_79805222	79761809	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0353 a0005c0005t0001g0353	1	356	0.0028	0	c.112 others(7): Show c.11261-2A>G		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	7/12						chr5	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0018 a0005c0011 a0006c0019 a0007c0012 a0009c0010 a0010c0013 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0018t0001 a0005c0011t0002 a0006c0019t0001 a0007c0012t0007 a0009c0010t0001 a0010c0013t0002 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0236 a0001c0001t0008g0238 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0259 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0224 a0001c0001t0013g0002 a0001c0001t0013g0049 a0001c0001t0013g0207 a0001c0001t0013g0211 a0001c0001t0014g0001 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0285 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0017g0186 a0001c0001t0017g0273 a0001c0001t0018g0251 a0001c0001t0019g0052 a0001c0001t0019g0201 a0001c0001t0020g0050 a0001c0001t0025g0007 a0001c0001t0026g0002 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0284 a0001c0001t0036g0001 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0037 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0045 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0036 a0001c0003t0023g0037 a0001c0003t0048g0152 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0281 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0010g0003 a0002c0002t0022g0005 a0002c0002t0022g0127 a0002c0002t0041g0032 a0002c0002t0043g0033 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0101 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0100 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0018t0001g0004 a0005c0011t0002g0003 a0006c0019t0001g0001 a0007c0012t0007g0045 a0009c0010t0001g0227 a0010c0013t0002g0124 a0011c0014t0001g0184	354	422	0.8389	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74518947	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18987.hp2 NA18987.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0004 a0008c0015t0004	a0008c0015t0004g0254 a0008c0015t0004g0254	1	422	0.0024	0	c.121 others(6): Show c.1211-2A>C		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11						chr18	TogoVar
CNDP2_chr18_74491363_74528454	74518948	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18987.hp2 NA18987.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0004 a0008c0015t0004	a0008c0015t0004g0254 a0008c0015t0004g0254	1	422	0.0024	0	c.121 others(6): Show c.1211-1G>A		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11						chr18	TogoVar
CNKSR1_chr1_26172491_26194884	26188770	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	370	0.0027	0	c.169 others(6): Show c.1691-2A>G		CNKSR1	ENSG00000142675.18	transcript	ENST00000361530.11	protein_coding	19/20						chr1	TogoVar
CNOT10_chr3_32680188_32778875	32704796	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01891.hp1 HG02257.hp1 HG02615.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 NA18906.hp2 NA19030.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 others(12): Show a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0348 a0003c0004t0001g0340	15	352	0.0426	1	c.118 others(6): Show c.118-3dupT		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTLN_chr9_17130040_17508923	17457514	TA TA	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0015 a0016 a0017 a0018 a0019 a0020 a0024 a0025 a0026	a0001c0001 a0001c0004 a0001c0014 others(31): Show a0001c0001 a0001c0004 a0001c0014 a0001c0016 a0001c0023 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0047 a0001c0055 a0002c0006 a0002c0008 a0002c0013 a0003c0002 a0003c0052 a0004c0003 a0004c0020 a0005c0005 a0006c0007 a0006c0043 a0008c0010 a0008c0053 a0009c0009 a0010c0012 a0015c0034 a0016c0038 a0017c0032 a0018c0042 a0019c0045 a0020c0040 a0024c0051 a0025c0054 a0026c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0014t0001 a0001c0016t0001 a0001c0023t0003 a0001c0023t0012 a0001c0027t0004 a0001c0028t0004 a0001c0029t0001 a0001c0030t0002 a0001c0047t0001 a0001c0055t0001 a0002c0006t0001 a0002c0008t0001 a0002c0008t0009 a0002c0013t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0052t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0009 a0004c0020t0005 a0005c0005t0001 a0006c0007t0002 a0006c0007t0006 a0006c0007t0014 a0006c0007t0015 a0006c0043t0002 a0008c0010t0002 a0008c0010t0004 a0008c0053t0002 a0009c0009t0002 a0009c0009t0008 a0010c0012t0002 a0010c0012t0003 a0015c0034t0001 a0016c0038t0001 a0017c0032t0001 a0018c0042t0002 a0019c0045t0002 a0020c0040t0002 a0024c0051t0013 a0025c0054t0002 a0026c0024t0003	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0204 a0001c0001t0007g0175 a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0023 a0001c0004t0002g0002 a0001c0004t0002g0017 a0001c0004t0003g0003 a0001c0014t0001g0038 a0001c0016t0001g0128 a0001c0016t0001g0129 a0001c0016t0001g0177 a0001c0023t0003g0166 a0001c0023t0012g0168 a0001c0027t0004g0161 a0001c0028t0004g0028 a0001c0029t0001g0202 a0001c0030t0002g0048 a0001c0047t0001g0123 a0001c0055t0001g0021 a0002c0006t0001g0076 a0002c0008t0001g0026 a0002c0008t0001g0027 a0002c0008t0001g0035 a0002c0008t0001g0037 a0002c0008t0001g0039 a0002c0008t0001g0040 a0002c0008t0009g0034 a0002c0013t0001g0045 a0003c0002t0001g0051 a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0058 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0071 a0003c0002t0001g0211 a0003c0002t0002g0065 a0003c0002t0002g0074 a0003c0002t0016g0070 a0003c0052t0002g0167 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0146 a0004c0003t0001g0149 a0004c0003t0001g0152 a0004c0003t0001g0159 a0004c0003t0001g0192 a0004c0003t0001g0193 a0004c0003t0001g0212 a0004c0003t0001g0217 a0004c0003t0002g0148 a0004c0003t0002g0187 a0004c0003t0003g0136 a0004c0003t0004g0180 a0004c0003t0009g0134 a0004c0020t0005g0145 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0006c0007t0002g0077 a0006c0007t0002g0078 a0006c0007t0002g0079 a0006c0007t0002g0085 a0006c0007t0002g0086 a0006c0007t0002g0199 a0006c0007t0006g0080 a0006c0007t0014g0087 a0006c0007t0015g0083 a0006c0043t0002g0081 a0008c0010t0002g0001 a0008c0010t0002g0049 a0008c0010t0002g0206 a0008c0010t0004g0207 a0008c0053t0002g0004 a0009c0009t0002g0154 a0009c0009t0002g0157 a0009c0009t0002g0208 a0009c0009t0008g0153 a0010c0012t0002g0018 a0010c0012t0002g0019 a0010c0012t0002g0020 a0010c0012t0003g0025 a0015c0034t0001g0088 a0016c0038t0001g0151 a0017c0032t0001g0066 a0018c0042t0002g0084 a0019c0045t0002g0046 a0020c0040t0002g0147 a0024c0051t0013g0047 a0025c0054t0002g0016 a0026c0024t0003g0024	137	215	0.6372	-1	c.311 others(7): Show c.3115-2delA		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42077064	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02109.hp2 HG02109.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0020 a0020c0026t0020	a0020c0026t0020g0027 a0020c0026t0020g0027	1	106	0.0094	0	c.197 others(5): Show c.197-2A>G		CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23						chr9	TogoVar
COG6_chr13_39650662_39757628	39660809	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	368	0.0027	0	c.298 others(5): Show c.298-1G>A		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	2/18						chr13	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0129 a0001c0001t0003g0188 a0001c0001t0003g0202 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0012g0182 a0001c0001t0013g0134 a0001c0001t0014g0168 a0001c0001t0015g0201 a0002c0002t0005g0216 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0006g0341 a0002c0002t0007g0325 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0176	134	368	0.3641	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL14A1_chr8_120120102_120378573	120280903	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show HG02027.hp1 HG02293.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp2 NA18906.hp2 NA18959.hp2 NA19011.hp2 NA19043.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0002c0037 a0014c0035	a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0002c0037t0011 a0014c0035t0001	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 others(10): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0143 a0001c0001t0020g0208 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0177 a0002c0002t0002g0163 a0002c0006t0002g0024 a0002c0037t0011g0012 a0014c0035t0001g0110	13	95	0.1368	1	c.368 others(7): Show c.3686-3dupT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	30/47					INFO_REALIGN_3_PRIME	chr8	TogoVar
COL23A1_chr5_178232618_178595393	178263111	TGCACTAG others(1361): Show TGCACTAGAGATGGGGATGGGGATGGGGCTGGCTCTGGAATCAGGATTTG GGGTTTTGGTCAAGTCCTGCGTGGCCCAACTCCATGCCCTCTCTTACCGC TGGGCCTTGTGCTCCCCTGGGGCCATCTTTCCCAGTGTCGCCAGGAGGGC CCCGGGCCCCAGGAGGTCCAGGGGGCCCCGGAGGCCCAGCAGCTCCATCT TGTCCTTGGTCTCCCTGAAAGAGATGGGGCTTGGCATGACTCTGAGGGGG AGGGGGTCCAGCCTCCAGAGAGAGGCTCCCTCAGATGGGCAGCCCCACGC CATCCCCTTCCCCAGCCCTTGGGCAGGCTCAAAGGGGAGGGCTTTGTTAT TGGGCCTCTTGCCACTTATTGGGAGCTGCATGAAGGAACAGGTCCCCATA CCTTGGTGTAAGAGGCCCTACAGGACCCTTTACATGCCAAGGAATGTGCC AGCTCTCCAGCGCCTGAAGCCCAGATCCAGTGTTTAGGAGAGAGATGGCA CACGCTGCATGTGGGAGACAGCACGTGTGTCCAGCTGCCCCCTCTTCTTT CTAGAACGGGGTCTGAGTGTCTCCTGAAGGACCTTCCTGGTTGGTCAACT CCCACTTCATTTAAGTATGGAGGGGCACTCTTGGGCATTTATCCTTGTTC ACAGCTGCTTTATTAGTAACAGCCCCAAACTGGAAACTAATCCGAAAGTC CTTTGGTAGGTGGAAGGTTAAGGAGCTGGGGTACATCCACATCATGGAAC ACAACTCAGCAATCAACCCAAAGGAACAGGGCACGACACATGCAACACCT CAGATGCATCTCAGGAGAATTATGCTAAGTGGAAAAAGTCCATCTCCAAA GCTTAATACTGTGTGGCTGTATCTACGTAACACTCTTGAAATGGCAACAT TGAAGAGATGGAGAGCCCATAATGGTTGCCAGGCGTTAGGGATGGGGGGA TGAAGGTGATTGTAACTACAAAAGAACAGCATGAGGGACCTTTGTGGGCT TACACAAATCGACGGGTGTGTTAAAATTGCACAGAACACACAAACGAGTG TGTGTACAGGTGGGGGCATCTGAATAAGGTTGGTGGATTGTATCATTGTC AATTTCCTGTTGTGAGACTGTACTACAGAGATGCAAGATGTCACCATTGG GGGAGACTGGATGAAGGGTACACAGGTGTTATTCACTACAATTACATGTA AATCTACAATTATCTCAAAATAAAAGTAAAAAAAAAAAAAAGGATGATGA AGGGCCACATGGTTTCTCTCATGCAGCAGTAAATCCCCAACTTTAGAACC TGATGTTAGTACTGGGGTCAGACCTCAGGCAGCCGGAGCCCCACCTCATG GCCCAACCCGAGAGGAAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0117 a0006c0010t0002g0117	1	236	0.0042	-1368	c.523 others(15): Show c.523-1155_639+96del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	9/29						chr5	TogoVar
COL28A1_chr7_7352875_7540873	7517839	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0165 a0019c0023t0001g0165	1	194	0.0052	0	c.814 others(5): Show c.814-2A>T		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	6/34						chr7	TogoVar
COL4A2_chr13_110302284_110518209	110493115	GAAATAAC others(27): Show GAAATAACGATGAGTGACACCCCCGCAGGTGAAAT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0202 a0001c0008t0001g0202	1	370	0.0027	-34	c.356 others(46): Show c.3563-32_3564delGAAATAAATAACGATGAGTGACACCCCCGCAGG T	p.Gly others(6): Show p.Gly1188fs	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	39/48		3563/5139	1188/1712		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110506330	TAGGTGCA others(34): Show TAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0002 a0003c0010t0004g0002	2	370	0.0054	-41	c.440 others(53): Show c.4403-24_4419delCTCTCTCTCTTTCTCGGGCTGCAGGTGCACCAG GCCGTCCA	p.Ala others(6): Show p.Ala1469fs	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	46/48		4403/5139	1468/1712		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A3_chr19_9954561_10015504	9969393	CTGGTTCA others(19): Show CTGGTTCACCCTGAGAATGGAACAGAA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19087.hp1 NA19087.hp1	a0075 a0075	a0075c0123 a0075c0123	a0075c0123t0001 a0075c0123t0001	a0075c0123t0001g0393 a0075c0123t0001g0393	1	410	0.0024	-26	c.409 others(38): Show c.4099-17_4107delTTCTGTTCCATTCTCAGGGTGAACCA	p.Gly others(15): Show p.Gly1367_Gly1370del	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	57/67	4226/6207	4099/5238	1367/1745			chr19	TogoVar
COL6A2_chr21_46093112_46134801	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0002c0003 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0008c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0002c0003t0003 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0008c0042t0002	a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0301 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0005g0289 a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 a0001c0002t0009g0262 a0001c0002t0009g0330 a0001c0002t0009g0334 a0001c0002t0010g0125 a0001c0002t0010g0291 a0001c0002t0010g0292 a0001c0002t0010g0321 a0001c0002t0012g0285 a0001c0002t0013g0288 a0001c0005t0001g0154 a0001c0013t0002g0001 a0001c0013t0002g0272 a0001c0014t0002g0007 a0001c0014t0002g0319 a0001c0019t0002g0020 a0001c0025t0002g0279 a0001c0031t0002g0296 a0002c0003t0003g0227 a0003c0004t0001g0309 a0003c0004t0002g0046 a0003c0004t0002g0257 a0003c0004t0002g0311 a0003c0004t0002g0324 a0003c0007t0002g0026 a0003c0017t0002g0307 a0003c0017t0002g0310 a0003c0041t0002g0258 a0008c0042t0002g0284	100	367	0.2725	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0050 a0002c0003 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0011c0066	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0050t0002 a0002c0003t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0011c0066t0002	a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0124 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0327 a0001c0002t0008g0019 a0001c0002t0009g0328 a0001c0002t0012g0020 a0001c0002t0013g0313 a0001c0002t0014g0326 a0001c0004t0001g0155 a0001c0006t0001g0302 a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 a0001c0009t0001g0261 a0001c0009t0001g0329 a0001c0009t0001g0333 a0001c0024t0002g0005 a0001c0024t0002g0318 a0001c0033t0002g0020 a0001c0042t0002g0294 a0001c0043t0002g0284 a0001c0050t0002g0297 a0002c0003t0001g0225 a0003c0010t0001g0309 a0003c0010t0002g0323 a0003c0016t0002g0026 a0003c0063t0001g0047 a0005c0017t0002g0256 a0005c0017t0002g0257 a0005c0017t0002g0311 a0005c0065t0002g0310 a0011c0066t0002g0282	97	359	0.2702	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A5_chr3_130340672_130489846	130413180	CTCCCATG others(873): Show CTCCCATGGGAAGGCTCTGATTAGCAGACAGTGCTTTTTGGGATTTGCCG GAGAGGGAAATACAGGAGACAGGATCTTCAGGATGATTTGATTCTCTAAA CAGCCTCCTGGATAATTGTTAGAGGCTGTCAGACTGGAGCTGGGTCTGTA ATGACTTTTAGATTAGTTTGCAATCAGTCCCCCAAATGTTAGTCTCTAAT TAAGTGCCCAGTGTGAAAGCTTGTCTATGGAAAATGCCTCAGGGAAACTG TTTCTGTGAGCTGCTCATTACTTATGTCTAGCAGAGAATGAAAGAGGCTG ATTTGCCTCAAGGAACCCCTCCATTCAGACATCCACATACTAACAGTTTG CCTTTTCTGTCCCAGGGAAGAGAAGGTCAAAGGGGACTCCGAGGTGTCTC AGTAAGTAACCTTGACTTCCTGTTCTCTGTGGTTGATGGGACCAAGGAGG TTTCTCCCATGTAGGTGGTGCTGGGAATCATATCAATGAGCATTTTACAA GGGTATAGGAAGTGCCCAGTACTGGACGTGATCCCCACTGACCCAATAAT CACTGCAGCTCCCGGGAACAGAACAGACCTAAGGAAAAGCCTCCCTGATA GATACCTGGCAGACAGGCAGAACCTGTGCAATTCCAAATATTGTGCATTT GACTGCTCTTCATGTGCTTTGGGAATCAACTTCAAGAGAGAGAAATTCCT TATTGGAGTAAGAAACAAGTTTATGTTCATTCCTTAGACAGTCTAGAACT GTAAAATCCTAGGCCAAGTAGAGGGTGAGCCACAAGTCAGACAAAATAGT ACCTATTTCTGATGTAAATAGTATGAAAAGAAAATCTATATGGAAACAAC GTGTAGAAATGCTTGACACTGGAAACTCTTG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp2 HG01515.hp1 HG00642.hp2 HG01515.hp1	a0026 a0026	a0026c0089 a0026c0090 a0026c0089 a0026c0090	a0026c0089t0002 a0026c0090t0002 a0026c0089t0002 a0026c0090t0002	a0026c0089t0002g0198 a0026c0090t0002g0276 a0026c0089t0002g0198 a0026c0090t0002g0276	2	290	0.0069	-880	c.466 others(15): Show c.4663-363_4699-8del		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	21/41					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130635698	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG01109.hp2	a0008 a0008	a0008c0034 a0008c0034	a0008c0034t0001 a0008c0034t0001	a0008c0034t0001g0102 a0008c0034t0001g0102	1	262	0.0038	0	c.502 others(6): Show c.5029-1G>C		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	27/36						chr3	TogoVar
COMMD4_chr15_75331063_75345273	75338353	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	428	0.0023	0	c.76- others(4): Show c.76-2A>C		COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	2/7						chr15	TogoVar
COPB1_chr11_14452512_14504811	14498987	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18964.hp2 NA18966.hp1 NA18989.hp1 others(5): Show NA18964.hp2 NA18966.hp1 NA18989.hp1 NA19000.hp2 NA19054.hp1 NA19068.hp2 NA19076.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 others(5): Show a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351	8	384	0.0208	0	c.-57 others(5): Show c.-57-2A>G		COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	1/21						chr11	TogoVar
CORO7_chr16_4349542_4421596	4364414	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	296	0.0034	0	c.113 others(6): Show c.1138-1G>C		CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	13/27						chr16	TogoVar
CORO7_chr16_4349542_4421596	4364691	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0205 a0002c0013t0001g0205	1	296	0.0034	0	c.104 others(6): Show c.1045-2A>T		CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	12/27						chr16	TogoVar
CPE_chr4_165374008_165503547	165467673	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp1 HG02486.hp2 HG02559.hp2 others(5): Show HG01109.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0001g0195 a0001c0001t0001g0197 others(5): Show a0001c0001t0001g0158 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0002g0286	8	329	0.0243	1	c.505 others(6): Show c.505-3dupT		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE7_chr16_89570758_89602246	89584767	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp2 HG00621.hp2 others(25): Show HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp2 HG01975.hp2 HG02132.hp1 HG02155.hp1 HG02293.hp2 HG02602.hp1 HG03927.hp2 NA18950.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19065.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002 a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 a0002c0004t0014	a0001c0001t0001g0311 a0001c0002t0002g0307 a0001c0002t0003g0298 others(22): Show a0001c0001t0001g0311 a0001c0002t0002g0307 a0001c0002t0003g0298 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0306 a0001c0005t0002g0308 a0001c0005t0002g0315 a0002c0003t0002g0310 a0002c0003t0004g0301 a0002c0004t0002g0002 a0002c0004t0002g0020 a0002c0004t0002g0271 a0002c0004t0002g0293 a0002c0004t0002g0296 a0002c0004t0002g0297 a0002c0004t0002g0299 a0002c0004t0002g0302 a0002c0004t0002g0303 a0002c0004t0002g0304 a0002c0004t0002g0305 a0002c0004t0002g0309 a0002c0004t0002g0316 a0002c0004t0002g0324 a0002c0004t0014g0300	28	346	0.0809	1	c.508 others(6): Show c.508-3dupC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPPED1_chr16_12654799_12808887	12697915	CAGCCTGG others(17541): Show CAGCCTGGCCAATACAGTGAAACTATCTCTTCTAAAAATACAAAAATTAG CCAGATGTGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGT CAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGTCAAGATG GCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACCCCAACC CCCACCAAAAAAAAGTCAGTTCATGAAAACCAACTCACAAGTGATACGGA TATTACCTGCTGATAAGTAGACTTGAATCACGCTTAATTCAATTCCATTG ACCACTATTCACCTATTGGGGGGCTACTATATGACAGTCTCAGCTAGGGG CTGGCCTTACAGAGGTGAATAAGGCTGGGCTTCTGTTTCCTGGAGGAATC AGGATCTAAACAGTGACTGCAATACAGCGCAAAGGATGTCAGAGCAGGAT TTGATGTTTTATCTTCCTATAAAGTAAATCCTGGGAACCTGATCTTTTTG TTCTTTAAAACTTTGAATTTTTTTTATTTATTTTTGAGACACAGTCTTGC TCTGTTGCCCAGATTGGCATGCAGTGGCGTAATCTTGGCTCACCGCAACC TCCGCCTCCAGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTCTATATTTTAGTA GAGATGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAATTCCTGACTTC AAGTGATCCACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGTGTGA GCCACTGCACCTGCCAAAACTTTGAAATCTTAAAACTATAACCATGGACT AAGATTTATCTTCTCTCTCTCTCATTTTCTAAAAAAGCATAAATACTAGA AATGAAACTCTAATTCTGTGAAATGACTCATTAACTTTTGCGGGGAAGAT CAACTTATTGGAATTTTTCATAATTGCCAAATTTGCTCTGGGCTCTCTAA CACACAGTTCTAATCTCTCTTCGGAGAATGGAAAAAAAGAAAAGGTATCG AGACATCAAGGGAAACATGGTCAGTTAAAGATCTAGCTTTTGTTTTTTAA GACTGAGCTTCTAAATTGGAATCAATATTAAATGGGTCATATATTAACCC TCTGCTGAAAGAGGCATAAAGGACCGAGAAAATGTCTAGGTTCAACCAAA ATTTCATTATCTACTATCTGTCTTTGCTACTCCAACTAGGTATCAGGTGA ATAAAGCGGAAAACCAATTTCTACATCCCTTGGATGTGATGAAATTGATT ATCCTCACGCAGGTGAAATGAAGACAGAAAATAACAGGTGCTGCTTCACA CTGGTATATCTGTCCTGACCTGATAACTGTTTATTTGTACCGGCTATTGA CAATGTTTTTGTATCATACAAAGACGGTTTTTCACTGAGCTTCAAAAGTA GAAACAGGATGCATCTGTTTCTAGGGAAACCTGCACTTGGAGGCTGGCAG GCTTCGATTCACACAGCACACCCCTCCACTCCCGGTGGTCCACTGCACAG TGACACCCTCCTCCTCGTTTATCTCATCCCATTTTTAAAAATTAATGCAA CAATGAGAGATGATTGTTGATGCTCATTATTAAATCATTTATTCATCCCA CACAATGATTCAGAATTATTCATCAAGCTTGCTGGAAGGAAGCTGGGTTT TACCTCCACGGTGGTTTGGGGAGAGATGTGCTCTTTAAAAGGGTATTTTA TAACAACACAATTATCATAATTAAAAGTTACCCTGATATTCTGATGAGCT TTTGACATATTTTTGAGTACTGGCATTTCAGCACAAGGAGATAAATGAGA CTGAGACAGTAGTAGGGAATAATATTGCCATGGGGGGAAGAAAACAAAGG CAATATTAAATACCAGCTGCCATCGTCACCCCCAATTTTATCCCAGCCTT TAAGTTAATGAATTTTACAAAATATCACTTGAACTTCTGGCTCTCCAAAA TGAGTTCCAATTATGTTGTTGTGACCTGAGCCGCTTTCTGCATAACTGAG TCATGGATGCGTACAGCCAAGAGCGCCCACCTACATGAGCTTCCAAGCCC AGCAAGTCTATCTGCCTGCAGCGGAGAGCCTCCACATCCGACTCATATTT CCTTCTGATGTTGCCTAAGATTTGTTCTGTGTTTGGAAGGTCATTCAGCA AAAGGCCTGGTTTGGCAGGCCACGGAAACTGACAGGGAATTTCGGGAAGG GCTCTCATCTCTCTGGCCTTCTCTGTGAAGCAGGTTTAGGTGAAGACCCT TAGGCCAGTGGCCAAGAAGAGGTAGGTGCCTTTGTATACCTGCAGGTGGT GCCTGGAGGAAGCAGTGGGAGGGGGTGCTTGGGAAGAGAAAGACTGCTGA GTGACTTTGGAGAGCCAGCCTGGGGACCAGAGCAGAGAGAGGCACAAGTG GCTTCCCTAAGACCAAAGGCCACAGAGGCCACGTGTTGAACACAGAGGTC TGAACATGCTCTGTTGCCCAAGGTGGAGTGCAGTGGCATGATCTCGGCTC ATTGCAATCTCCACCTCCCAGGTACAAGCAATTCTCCTGCCTCAGCCTCC GCAGTAGCTGGGATTACAGGTGGGCACCACCAGGCCTGGTTAATTATTGC ATTTTTCAGTAGAGACAGGGTTTCGCCCTGCTGGCCAGGCTGGTCTTGAA CTCCTGACTTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTAGGAT TACAGGTGTGAACTACCACACCTGGCCCAAAGACTTTCATTCATTCATTC CACAAATACTGATAAAACATTTATTATGAGCTAATATCTGAGCCAGGTCT CCCAACTGCATAGCTGAATATGACCCTGTCCCTGCCCTCAGGGAGCTGAG AGTTTAGCGGGGATTCAGACAAGTCAACACTTGCAAATCCACCTGACAAG TGCTGGGATAAGAGAAGCTGAAGAACCTGGGGTGGGGAGGAGGGGAGAGC CTTATACAGAAGATGTCAAAGTTGAGTGGGAGGCGGGATGTGGTGTCTCA TGCCTGTAATCCTAGCACTTTGGGATACCCCGGCGGGAGGGTCACTTGAG GCCAGGAATTTGATATCAGCCTGGGCAACACAGTGAGACCTCCATCTCTG CAAAAAATAAAAAAATTAGCCAGGCATCGTGGCACTCCCCTGTAGTCCCA GCTACTTAGGGGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAATCCAGG GCTGCAGTGAGCTATGATCACATCACTGCACTCCAGCCTGAGTGACATAG TAAGACTCCATCTCAAGAAAAAAAAAATGTTGAGGCCGGGTGTGGTGGCT CACACCCGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTG AGGTCAGTCAGGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCCAT CTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGCGCGCCTGTAA TCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGG TGGAGGAGGTGGTAGTGACCCGAGATCATGCCACTGCACTACAGCCTGGG TGACAGAGTGAGAATGTCTCAGCAAACAAAAAATTGTTGAGTGGGCCTAG GCAGGTGAACCAGAAGAGGCTGGAGGGGAAGGCAGATGTGACTGAGAAGG GCCCTGGACACTGCAGTGAAGAGCTGGGCCGGACCTGGGGGTGGAGGGAA GCCTCATGCTTTGCAGTCAGTTACACACCCATCTTGCTGTTAGGTGCAGA ATGAACTAGAATGGGTAAGAGCAGAGTGGGGAGCACAGTGCAGAGCTGCT GCTAAGACCCAGATGAGACAGTGGACAGGCTACAGAGACACGAAGGAGGT AGAATTAAAGGGACATGAAATAACCAAGTGCCTTCAGCTAGCGAGCTCCT CCGGAGATGGAGCCATTGGATTCCAGCGCCTGATGTCACTGAGAGTGGAA TAAGGCAGCTAACCCCCCTGTTTTCTCATGCCTACCAAGCAGCCTCCTGA TTATAATTGGGCTTCCCATGTAGCTCTGCCTACGGGAAGAGAAAGCACCG CTGGGGTGGAGGCCAGGGCTGCGGTCTTGCTCTAAATTAATCAACTGCCA TTCTGGTTTGTAGCTATCAGTCTCTGGGAGCTGGGATAATTGGAGACACA GACCAGCTCTTGGTTTGCCAGCAACTCTGGTTCCTGTGCTTGAGGGGTTG CAGATCTGAGTGGGCAGGGGGCTGGGGCATCATGGATATGATGCCACCCT GTAGGGCCCTTGGTGGGTGGTCAACAGGCTTCTCCCAAGGGTGCCCTGTT AGAGCTCACACCTGTAATTTAAACTCTTCGGGGGGCCAAGGCAGGGGGAT CATTTGAGGCCAGGAGTTAAAGCCCAGTGAGGTGCAACACAGTCAGACCC CGTTTCTACAAATAATTAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCT ATAGTCCCAGGTTCTCAGAAGGTAGAGGTGGGAAGATTGTTTAAGCCTAG GAGGTCGAGGCTGCAGTGAGCCATGATCACGCCACTGCACGCCAGCCTGG GTGACAAAGCAAGACTCTCAATCAATCAATCAATCAATCAATAGAAAAAA TTAGAACTGTGAGTCTTCTCAGTATCTGGGGGTGCTCTGTCCTACAAGGG GAAAACCACAGAACTACATACCACTCAGGAATGTGGTCAACAAGAACAAG AACAAAGAACTCAGGGCAGTCATGGGCTTTACATCATCTAACATTAGATC TGGCCAGCTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG AGGTGGGTGGATCACCTGACGTCAGAAGTTTCGAGACCAGCCTGGCCAAC ATGGTGAAACTAAACCTGGCCAAACTGTCTCTACTAAAAATACAAAAACT AGCTGGACATGGTGATGGGTGCCTGTAATCCCAGGTACTCAGCAGTCTGA GGCAGAAAAATTGCTTTAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGA TGGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGGGACTCCGTCTCAA AAAAAAAAAAAAAAGAAATACCATTGGATATGAAAGGAATCACTTCAATG GCATTAAATGTTCTCTCTGGCTTTATTCTCCACTACAGAATAGTCTCCAT GGTGGTGCTCATGCCGCCTTGACGCTTTGTTTCCTTGTCATCAAGACAGT TTTCTGCACCAACTCAAGCATGGCATGAAATTTCAAACGACTTAATAGAA GTTTTCTAACTTTATCTCCATGGAACAGCTGGAAAACATCTCCAATTATG TGAGCTTATTGCAAAATGTCTTGAAAATACAAAATGTTCCGCTGGGTGGG GTGGCTCACACCTGTAATCCCAGCACTGTATTCCCAGATGGGACTAAATC CGTTACTCTCTCCGGATTCTGGAGGAGAACTTAATCCACCTCACCAGAGG AAAACTGATCACGTCCCGTGGCCTTGGGAAGCCAAGGTGGGTGAATCACT TGGGGTCAGGAGTTTGGAACCAGCCTGGACAACATGGTGAAACCCCATCT CTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTCAGCGTTTGTAATC CCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCG GAGGTTGCAGTGAGCCGAGATTTTGCCACTGCACTCCAGCCTGGGCAACA GAACAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAGTAAGCCCTGGT GAAAGGAAGAACGAGGACAAAGAGAAGAGACACAACAGTTGTCAAAACTG GAATTTGCCAAATCACTGGTAACCCAGGGAATCTGCCTAGAACAGACTGT TTCTCTTGAAAGGCCCATGGCAGGTGCTACCAGAAAGATAAAGGAGGTGG GTGGGCTAGTGCCTTAGAGTGCCATCAGAAATTGAGGTGTGACCTCCAGA AATGGAGGGTCTTCATTCTGTGCGTGCACGTGTCTGTCACATATATCACT GGCAGCAAAAGATGGGACTAAATCCGTTACTCTCTCCTGATTCTGGAGGA GAACTTAATCTACCTTGGCAGAGGAAAACTGATCAGGCCCCAGGAACTGT CCGCTAAAGCCACATCCCAGGATTTCCTGAGTCACAGCTGATGAATACTG GAGGGCAGCTTGACTCTTAAAGATCGTCTGCCCTTGAGCAAGGTGCCTGC TTCCCAGAGAAGTGAAAGCAGATGTCCCTGGCATCTTGCCTTCTCCCAAG GCACATGCAAGCCACATTCACACCCACCTGCACTACCCAGTCTACTTCCC CCAATAAACCCCTCCTGCCACTTCCAGAACTCCAATCTTCAACTGTGAGC AGCTATGGCACACTGAGTACTTAGGCTAGGGTCTGTTCTCCATGTCTTGG AGGCCTTTCTCATTTAATCCTTGACACCATCCTGCAATAAGGCTACTATT ACTATTCCTGTTTTATAGACGAGGAAACTGAGGCACAGGAGGATTAACTA GCCAGACATGCAGTCTGCAAGTCCAAGAGCTGGTATCAGAACTCCCGGCC TAGTCCTCTCTCCCTTTTTGACACATTGCAGAGAGACGGGAGAAAGATCT GGAAATGCCCTCTCTAGACTTGTCCTTCCTCCCTGAAACCCGTGGCCCGG GGCCTCTACCTGCGTGGATGAACTTGTCTGCCAACTTCTTCCGAGTGGAC TTGCTGAGGTTGAAGTAGTAGTCGTCGTCCTCGTCGATGCTCTCCAGGAA CAGCGGGATGTGCTGGAAGACGATGGCATGCTGGCAGTGCCGCTGCCTCG CGATGCTCAGCTGCTCGTCCAGCCACTGGTCCTGAGCCTGCTTCAGGCTG GGGCATTTGGAGGGGTTCTCGTAGAACTGGGAGTTGAGGACCAGGAACAG GACGCCCCCGACCCAGAAGCTGAAGTAGTCATCTCCCCAAGTCCGGCAGA ACTCCTCGACGGTCTCGGCCGTGGGGGTGTTGCCAATGTCATGGTTGCCG CTGACAAGGACCAGTGGGATGGCCCTGTCCACTGCCCTAAGCACTCGCTT CAGGTCCTCCGTCTGCTCCGTCCGCCACGGCTTCCCTGGAAGAGTGAGGG TCACGTCCTGAGAAAGCCAGGGGCTTATTCACTTGAAATAACTAACTTAA GTACTTACTAACATAAAATTTAAAAAAAGAGTAATCTGGAAATCCACTCC ACCTAGCACATGGAAACTGCAAAATGCAGTCACGTGCTAAAAGCAAACCA ACAAGTCCGACGGGGGCCTCTGCCCATCCTTCCCCAGGATACCTTAGAAA TTCCATGACTACATGGCCCCCTGCCCTATGTTGCTGAGTGATGGTGTGAA GTCAATCCTGAGATTAAATATTAGTGGACTGGGTACAGTGGCTCACACCT GTAATACCAACACTTGGGGAGGCTGAGGTGGGAGGGATCACTTGAGCCCA GGAATTATGAGACAAACCTGGGCACTACAGTGAGACCCTGTCTTCATAAA AAAGAAAATTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTT AGGGAGGCCGAGGCACGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCT GGGCATGGGCACGGGCACCTGTAATCCCAGCTACTCGGCAGGGTGAGGCA GGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCAC GCCATTGCACTCCAGCCTGGGCAACAAGAGCGAATCTCTGCCTTAGCCTC CCAAAGTGTTGGGATTACAGGCGTAAGCCACCGCGCCGGGCAGAACATGC GTTCTTTCACTGTTGAATACCAAGTTCCTCATATTTCTACTCAATCAAAC TCATTAATGGTGTGGTTCAAATTTTCTGTGTCATTATCCTTTTCTTTCGG CCTGTTGATGTATATTTGTTTCTGAGAGACTTGGTTAAGTTGTCGCTGTA ACTGTGGATTGATCTGTCTCTTTCTGTAATTCTGCCAAGGTTCACGTCAT TTACTTTTAGTTACATTGTTAGACGTGTAAGAGTTCAGAATTTCAATATC TCACTGCAATAGTTTTATATTTAACCCTAATGAAATAAATAAATATCAAG ATAAGAAACAGGCGATCTATATTAATGCTATGAGAAAATCTTTAATATAT AGTAAGTTAATAATATAAGGCACAGAGGAATAAAATCACACACAAATTTT TAAAAGCCTCACATGTATTCATGTATTATGGATAAAATGTCCCCCAAGAT TCAAAGAAAACTGTTAACTCTGGTTAAATCCAGGAAACAGAAGCAGAGAG GGAGGGAGTCTTACACTTGGTTTAAAACCCTTTATATTAGGTTGGTGCAA AAGTAATTGCAGTTTTTGCCACTGAAAGTAATGACAAAAATTGCAATTAC TTTTGCACCAACCTAAATACTTTCTTTCTTTCCCTGCCTCTCTCCCTTCC TTCCTTCCTTCCTTTCCTTTCTCCCTTCCTTTCCTTCCTCCCTTCCTTCT TTCCTTCCTCCCTTTTCCCAAGCTTATGTATAATTTTCACCGAAAAAAAA AAAAAAAAAAAACTCAAAGATTTTGACTCCATGGTTCTGGGGCTTAAAGA AGATTGAGGAAGCCAGCCAGGTGGCTGGAATGAATGTTTGGACTGGCAGC CCCAGGGCCAGCCTGGATCAACTCAGACCAGCCATGAGGCCAATGTGGAC TGCAGACAAACCCTAGCACCCCTGGAAGAGAGGACTCTCGGTCCCTGGAG CAGGCACGACCTGCTTCCACAGGAGGCTGAGCAGACTGGGCTTCAGACCC CAACTCCTGCTGCAGGGGTCAGCCAGCCTTTCCCGAGCCCATTCCACTGG TGTCCAGAGGTGAGAGGTGGCTGCACGGCCTGAAGCCTAGTGGAGGGAGC CTTAGGGAGAAGCAGGTTCTGCCTGCACCAGAAACCAGGAGGCCTCTCTC TCAGGGGTGCTGGGGGTTCATTCACCTACCGTCTGCATCGAAGGTGCCAT TGATTGACATTGCTTCTTTAGCCGAACCCGGACTGCAGGCATCTGTGCTG ACTTACATGATCCTCTCTAAGACTCCAGTGTCTGGTTCTTTTCCCATGCC AGTTTAGGAAAGACAAGTCCTTTGTAGCTTTGAACACAACAAACTCTCTC AAAGCGACCCTTGTGGTCCAAGGCTGATTCATTACCACTTTCCTCACTGG ATTTTCTCAAAGACCTCAAAGCCGCCCCTCTCACTTCTTCTTCTTTCTGT TCACACTGACTTGGGGATTTTGGGATATTCAATCACTGACAATACTTCTT AGCACTTCCTACAGGCCAGGCACTGTTCTCAGAGCTGTGTGTGCACCGAC TTGCTTCCTCTGGACACCCAGTGGAGGAGTGGGGATTTGAACTTGGTGGT CTGGCTCAAGGTGCTGTCTACAGTGTCCTGGTCACAAACTAAGGTCGTTG CTCTCAGGATGACTTCTCCTGGCTGCCCTGAGACACAGGATGAGGACTTT ATAATACACTGGGGTGCAGAGCATCTCCTGTTCTTGATTTTCAAAGTCAT TAAGTATGGCCCCTCACATGCTAACTGAGGCAGGTATGGAAAAATGTCCG AATCCCTAATGACCATAAACAGAAAAGTTAAGAAGGGGCAGTTCAAAAGA AAGGCTGACTTGGGAAGGAAACCTTGTCTAGGAAGCAACCAACAAGGAAG AGCTGGGAATTACACACAGTAATGTGATGTGTGTTTCCAAACAAAGAGGG ATGCTGCTTTTGGGGAAACCACCAATATCCCCCAGTAATCTGTTAAAAAA AAAACGCAGCTCATCTTCCCTAAATTTCCTTCAGCAAAAATGAGCCTCTT GGCAGGGCGTACTGATGCATGCCTATAATCCCAGCACTTTGGGAGGCCTA GGCGGGCAGACAACTTGAGGTCAAGAGTTCAACACCAACCTGGCCAACAT GGTGAAACCCCAACTCTGCTAAAAATAGAAAAATTACCCAGGCATGGTGG CATACACCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACT CCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAATTATTTATTTA TTTATTGTTGGAAAAAAAAAAGATGAGCCTCTTTCTTGTGTAGCTTTTCC AACACTTTCTATACCTCTTGCATGGAGTCACAGGTGCTGAGGTGGAGTGA GTGTGCCCTGGGGTTGGTCTCTTGCCCCTTACAAGCTGCATGGCCTTAGG TAAGTCCCTTGGTTCCTCTGAGTCTTGGTTTCATCGTGTATGAAATGGGG ATGATAATTCCCATACCTCAGGAATGGCTGTAAGAATTCCTACTAAGATA ATGATGTCTAGAGTCTGGTACAAACAAGAATGCAAAGCTGTCAGCTGTCT GCTTTCCACATCCCATCCCCCTAAATGTAATAAATTCTTCCATTTTTATC AGCGACCCACTGTGTGTGCATAACAACCAGTAAATCGTTTCAGAAGGAAT GAAAATCTTCCCCAGGGACAGAAATAGTTTTTAGTTAAGAATCTGGAAAT AAAAGAGTAAATCCTAGATTACAAAAACCCAAGTTGAATGCCAACATTTG CATGATCTTTAACAAGCTCTCATTTGCATGTAACAGAATCTCTGTAGGGT TACGTACTATATTAACAACAACTTAGTATTAACAAAGATCATAGCACAAC TTAGCAGAGCTTCCTGAAAAATAGTCCCATTGTGGCTGGGTGCAGTGGCT CATGCCTGTACTCCCAGGACTTTGGGAGGCTGAGGCAGGAGGATCATTTG AGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGACAAAACCCCATCTCT ACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGGGCCTGTAATCCC AGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGA GGTTGCAGTGAGCCAATATCGCACTATTGCATTCCAGCCTGGGTGACAAG AGCAAAACTCTGTCTCAAAAATGTCCCATTATATATGAGAACCCAAAGCC CAAAGCCAACCTCACCAGCATCATGAACAGAAAAAACAGAAACCTGCCCA AGGACACAGAGCTTCAATGAGTTTCCTGTCTCACGCAGGGTTCTATGTTC ACAAAAAGAATGTATATAAAGGACAGGAAGAAAGGCAGGGAAACAAGGGG AAAGACTCTGAAAAATGGCAAGACATGACTCAGAAGAGGGGCAGAGAAGG ATTGTTCTGGGGTCTCCAAGGTGGATAAGAGGTATCTGCTGAGAAGTGGG TGCCAAGAGTACAGGGACCCCAATGTCAGCACACACCTGACCCCCACGGA GAGGAGCCCTGGGTGGGAATGGCGAGAGCAGTGTAGAAAGCTGCAAAGCG TTTAAAACACTTAAAAAAATTTTAATGCAATTGGTCAAAATAAAACTAGG AGGTAAAAAGCATGATAACGATAATTACAAAATTCTTATTTGTATCAGTG GTACTGTGAGAGGTATGATTTATTTTTGTCCATATTCATTAAGGCAGACA TTAGTATCTTGGTTGTTTTCCAAATAGCCTTAAAATACATTGTCTAATAA AATCTCTTTGTGAGTTAGGAAGAGAAATAAACATCCTTAACTGGATAAAG GACATCTGTAAACAAGTATAGCTATGATCATAGGTAATGGTGAAAGACTG ACTGCCTTCCTCCAAGATCAGGAACAAGACAAGGAAGTCTGCTCTCACAC TCTCACTGAACATCATACTAGAAATCCTAGCCAGTGCAATAGGCAGGCAG GCAGGCAGTCAGGGAAGGAAGGGAAGGAAGGGAAAGACGGGGGGAAGGAA GGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAGGAAGGAAAGAAGGGAAGG AAGGCAAGGAAGGAAGGAAGGGAAGAGAAGAGAAGGAAGGAAGGGAAGGA AGGGAGGGAAGGAAAGGAAAGGGCATACAGATTAGAAAGAAAGAAATCAG TCAATTCTCAGAAGACTGTCTCCACAGAAAATCCCAAATAATCTACAAAA AACAAAAGAACAAAACATCAAAGACTCTTAGCACTAATAAGAGAAATTAG CTTGGATGCAAAGTAAATATATAAAAATCAACAGTATTTCTACATCCTAA CATAATATAAAAATTAGAGGTTTAACAAGAAGGATTTAAGAGATATTTGG GAGGTAGAACTGACAGGAATCCTCATTGTACTGGTTACAGGAAGGACTCA AAATTAATTCCCAGACATCTGAGCAACTGGGAGGCTGGTCATGTTGTTTA CTGTCAGGGAAAAGACTAGGAGAGAAATAGGTTACAGGTAGAAATCAAAA GGTCATTTTGAATATAAAATTTGATGTATTGTTACAGGCCAAAAAAAAAA AAAGGAGGGGGGGAACAGACAAATTGGACCTCATGAAAATGCAAAACGTT TGTGCATCAAAAGACACTATCAACAGAGAAAAAAGTGCAAACCACAGAAT GGGAGAAAATATTCTCAAATTAAATATCTGATAGGGAATGAATATCAGAG TATATGGAGAACTCCTAAAACTCAACAACCACTAAAACAACCTAACTCAA AAGTTGGCAAAGGATTGAACAGACATTTCTCCAAAGAGGATATATAAATG GCCAATAAGGACATTAAAAAGGTGCCCAACACGACTACTTATTAAAGAAA TGCAAATCAAAACCACAATGAGACGCCACTTCATACCCATGAGGATAGCT ACTATCAAAGAGACAGAAAATAACAGGTATTGGTGAGGATGTGGAGAAAA TGGAAACCTGGTGCATTGTTGATGGGAATGAAAAATGGTGTAGCCACTGT GGAAAACAATATGGTGGCTCCCCCAAAAATTAAACGTAGGATTACCAGAT AATCCAACAATTCTATATCTGAGTCCCCAAAATAACTGAAAGCAGGGTCT CAAAGAGATGTTTGTACACCTATGCTCACAGTAGCATTATTCACAATAGC TTAAACATGGAAGCAACCCAAATATCCACTGACAGATGAATGGATAAGCG AACTGTGGTATATCCATACAACGAAATATTATTCAACCATAATAAAGAAG GGAATTCTGACACATGCTACAACATGGATGAACCTTTAGGATATATGCTA AGTGAAATAAGTCATGCAGAAAAAACAAATACTGTTTGATGTCACTTATA TGAGGCACTTAGAGTGGTCAAATTCAGAGGCAGAAAGTAGAATGGTGGTT GCCAGGACTTTCAGGAGGGAAGGATGGTGAGTTATTGTTTAATGGGCACA GAGTTTCCATTTTGCAAGATAAAAAGAGCCATGGAGACAGATGGTGATGA TGGTTGCACAACAAATAGGAATATACTTCATGCCACTGAACGGTACACTT AAAATGGTTAAGGTGGTACATGTAACGTTACGTATATTCTGCCATGCTAA AAGAAAAGAGAAGAAACCACCAAAGTTATCAATATACTCATGATCCCTCC AGGTTGGGCTGTTGAGAGGGCAGCTGGGTCTAGGAGTCTGGAGTTCAGTG GAGGGTGGGGCTGGAAGCAGACACATTCACCATCATTCTAATAGGAGCCC CCATGATGGTGCCCTTGGGGTTGGCTTTTCAAGGGGATCCATAAGTGGGC TCCAGATTCAGAGGACCTGAGGTTGCTCTTTATTAGGGGTGTCCTCTGGG GATGTTGCCCTCTGAGCCTGTCTTCTAGACCCTAAAATGAAAATATTATC ACCTCCTTTATGGAAATTCTGTGAGATAAATGAGATCATGTATTTAAAGT GTCCAGTATGTAGTATGTGCATACCTTCCTTTCCCCTCTTTCTAACAGCC CCCTACCCAGGGAAGAGACAGGGGAGGAGGGAGGCAGGTCTCAGGTGTTC AGAGATCTCCCTCCCATTTTCCTCATTCTCAGGGAGCTTAGCCCCCAGTG CCGCTGCTACTGTCCCTGAGAAATGCAGGAAAGAACACACATGTCTGCAT GTTGACATCCTAGCCCAGAGCTCACGTTTACCTGACAACTCGTTTACTGT GGTGCCTGGAGGCCACACCTGTCCTGCAGACAGATGGATACATGGATGAG ACAGTGCTTAGGCCCTTGCACAGAAAGGGAAGCATGCCAAGGACAAGAAT TTCCAGAGACAGCCCTAAGAGGTCCCTGGAAACAGAGTCGATGGGGCTCC GTCCCTACCTGCAGGTTGGAAACGGAATAGTCAAGCCAGGGCATCAACTA TATGGTTAAGATCATAGCTCAGTAATTAAAACTCCTTTCAGGGGGCAAGT AGAACTCCTTTCAGGGGGGAATTGGAAATATCCATTTAAACTTTAATAAC TTCATGATATTGAGTGAGCCAGCAGTTCCATTTATCAGCCTTTATCCTAC AGACACATACACAAGTGTGCAAAACATAACTATTCCTTGTAGCAACAATT GAGAAGATATAAACATTTAAATTGGCTTAAATGTTTATTAATAAGGAATA GATAATATGTATAGAGTAATAAACAGGCATCACAAAGAATGAAGGAGATC CGAATTTAGTGGCCACGGATATATAGAAAAGGTGCACTGTTAAGGTTTGG GGAGCAAGGGTTGGCTGGCAGTGGGGGACAGTAAGTGAAAACAGGAAGTT ATTAGAGCTAGTAGTACGACACAATTTTATTAAAAATAAATCTACGAGTT GGTATATTCAGAGATAAAAATATCTAGAAAAACATGGCAAAACTGTTAAT AGTACCTGTCTGTGGGGAAGTGGAAGGACAGAAAACATTTCAGTTTCCTG AAAAACTTAATTTTTTATGAGCATAAGTTACTTTCATTATAGAAAAATAA TCAAGACATTAAAAAATCACAGATGCACTAAAATTAGATCTTGTTAAGTA AACAAGTATACATTTAAATAAAATGGGAACAAATGTAAAACAAGTGACAA GGCCAATTGTGTAAGTACTGTTCTTTACTCTCAGAAAGAGAGAAAATGGG GAAAAGAGAGTACCAGAAAGGTATTTCGAAATAAGTTCTTAAAAAAAAAA ATCGCAGTGGGTAAATTCAATTTAAAAAAATGTATAAAAAATTGTGCTCA GGACGAATTGTGTTCTTTCTGAATCTGAATAATTACATTTTCAAAAAGAG AGTTTTCTTCTAGAGCAGATGACTTTAAACGTCAACACCTAGTGAGTATC AGAGGCAGCACAATGTCTCTGCTACTATTTTGATATCTGAATGAAATAGC ATCAAAGGAGAAGGTGGTTGTCCTGGTCTTTTAAATCTAGTTTCTTCTTT TTTATTTTTTATTTTTTTTGAGATGGAGTCTCGCTCTGTCACGCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTTGCTGCAATCTCTGCCTCCTGGGTTC ATGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGT GCCACAACACCCAGCCAATTTTTGTACTTTTAGTAGAGACGGGGTTTCAT CATACTGGCCAGTCTTGAACTCCTGATCTCAGGTGATCTGCCTGCCTCAG CCTCTTAAAGTGCTAGAATTACAGGTGTGAGCCACCACACCTGGCTATAA ATCTCGTTTCTTCAATCTTACTAAAATATGATATGTGTTTCTCAATTTTT TTTTCATTATTGCTGCCCCCAGGAGACCCAAAATTAGACTTTTTCCTAAT CTCCCCTCCACTAATAACAGCTTGAGATATAAATACACAAACAATATAAT TCATCCTCTGAAGGTATGTTTTTAGAATATTCAAAGAGTTGTGGACTGTC ATGAAAATCAATTGTGGGACATTCTCACCACCCCAAAATGAACTTTCACC CATTAGCAGCCCTTCCCCATTGCCCCCCAACTCCCACCACCCTAATTCTA AGCAATCACTAATCTACCTTCTATAGATTTCTCCACTCCAGGCATTTCAT AGAAATAGAATCATATAAAATGTAGGCTTTTGTTACTGATCTTTCACTTT GCATGATGTTTTCAAGGTTCATCTATTTTGTAGCCTATGTTAGTGCTTCA TTCTTTAATTGCTGAATACTATTCTACTGTATGAATATATCATCATATTT TGTTTATCCATTCATCTACTGATGGACGTTTGGGTTGTTTCTACTTTCTG GCTATTATGAATTATGCTGCTATAAAAATCCACGTGCAAGTTTTTCACAT GTGAAAAGATGTGTGGATATCTTTCATCTCTCTTGAGTGTATACCTAGGA GTGAAACTCTGAGTTACATGGTAACTATATGTGTTTACTTCTTTAAGAAG CTAGCAGACTGTCTTCCAAAGCACCATCCTACATTCCTACCAGCAATGTA TGAGGGTCCCAATGTTTCCACATCCTCAACACTTGTTATTTTTCACCCTT TTAATTGTAGCCATCTTAGTAGGTGTGAGGTAAAATTTCATTGTGGTTTC TATTTGCATTTACATAATGACTAATGATGCTAAACATTTGTTGTTGTGCT TACTGGCAATTTTTATATCTTCTTTGGAGAAATGTCTATTCAGATACTTT GCCCATTTTTCAGTTGGGTTATTTGTCTTTTCATTATTAATATTTAGTTG TAAGAGTTCTTTACATATTATGAATACCAGATCTTTATCAGATACAGGAT TTGCAAGTATTCCCTCCCATTTGGTGGGCTGTCTTTTCACTTTTTTGATA ATGTCCTTTGAGGTACAAAATATTCAAGTTTCATAAAGTCCAATTTATCT ATTTTCTGTTTTGTCACCTGTGCTTTTAGCGTTATATCTAAGAAATCACT TTCCAATAGAGGATCACAAAGATTTCTGCCTATGCTTTCTTCTAACAGTT TTCTAGTTTTAGCTCTTCTTTGGGCTTTGATCCATTTTGAGTTCATTTTT TTTTTTAATATGGTGTGAGGTAGGGGTCCAAATTCACTCTTTTGCATGTG GATATCCAGATGTCCCTGCACCATTTGTTGAAAAGACTACCCTTTCCCCA TTGAATTGTCTTGGCGCCCTTGTCAAAAATCCATTGACCCTAAATGTGAG GATTTCTGGATTCTCAATTCTAATCCATTAATCTCTATGTTTATCTTCAT GCCAGTACCATAGTGTTTTGATGACTGCAGGCTTCTAGTAAGTTTGAAAT CAGAAACTGTGAGTCTTCCAACTTTATTCTTCCTTTTCAAGGTTGTTTTC GCTATTCTGGGCCCACATAATTTTCATATAAAATTTAGGATCAGCTTGTG GTAACTGTGTAATCAAGGAGAAATAAGATCAAGGTCCAACACTTAAGCAG CTTATAGCTTTTAGGCTGGGTGTGGAGGCTCACGTCTGTAATCCCAGCAC TCTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	288	0.0035	-17548	c.290 others(18): Show c.290-10414_715+6708del		CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/4						chr16	TogoVar
CPVL_chr7_28990235_29151537	29029404	GTGTCCAT others(10905): Show GTGTCCATCAACAGATGAATGGATTTTAAAAATGTGGCATATACACACAA TGGAATATTACTAAGCCATAAAAAAGAATGAAATCCTATCACTTGCAGTG ACATGGATGGAACTGGAGGTCGTTATGTTAAAGGAAATAAGCCAGGCAAA GAAAGACAAATATCGTATGTTCTCACTCACATGTGGGAGCGTAAAAAGTT AATTTCATGGAGGTAGAGAATAGAATGATAGTTACCAGAGGCTGGGAAGT GGGGATGGGTGGGAAGACGAAGAGAGATTGGTTAAGGGGTGCAGACAGTT AGATAGAAGGAATAAATTCTAGTGTTCAATAGCACAGTAGGGTGACTATA GTTAAGAACGATATATTGTATATTTCAAAATGGCTAGAAGAGATTTGAAA TGTTCCCAATATAATGAAATGATACATGTTTGAGGTGATGGATATCCTAA ATACCCTGATTTGGTCATTAACATTAAATACATGTATCAAAATATTACAT GTATTCTATAAAGATGTACACTTACATATCGACAACAACAACAAAACCCT TCCCTCAAACAAATCTCCAAGCCCAGATGGCTTCACCAGTGAATTCTCCT AACACTTAAAGATACCGTTTCCAACAACAGAAAGAGGAAACACTTCCCAA CTTATTTTATGAGGCCAGTATAACCATGATTCCAACACTTGAAGAGGACA TTGCAAGAAAGGAAGATGATGAGAGTAACATCTGACCCCGCAGTGGAAGT TGCACTAGGGTGTCAGCTAGAGAGATTTTGTCCTGAGGCTCCACATGTAA TATAAAAATGTGATCATACATTTGCCAGAGGAGATTGTGTTGAAACTTCC TTTATAATTTGCCAAGTTCTCTCCCCAAATAGACTGCAATTCTCTCATTA ATGATTTGCCTCTTTGGACTGAGCACTGTCTTTTTAATGAATTGTCTCCT TACCTCTTGAACAATGCCTAAACTTTTGTCTGGTTTTATATTTAGTCCTA TGTATGTCTGAACTCAGACCACTCTTCTCTGTGGAAAGTAGGGCCACAGA AGACACACACTGGCTGTTGTATGGCTTTGCTTAAGGTCGGCCATGTCTCA TTGCTATTCAGGCTTTATTTTCAATCCCGCTCTCCCATTCCCACAACCTG CCTGCTCCCAAGCATCTTCCTACCTGATGGAAGTCACCCGCTTGCCGGAT GTAACCAGCCACTTCACTGTCAGATTTAAAGATCTTCCAAACTTTTTTTT CTGCCTTCTTGTATTCCTGGGATCCTTTCCAGTCCATGCCCATCAAGGAG CGCTCTGTCAGGGCAGCTGCCACGATGATGTCCAGTTGGCCATTGTAGAT CAGAACCTGAAATGAAATCAAGCCATCAGCAAATGCAAGATTCAGGAGGT GAAGCTCATGAATCGAGCTAGGTATAAATAGTGAGCCAGTGAGAGAGAAA AAGAGACATGAATCTCTCTGAGATTTTCTTCTAGTTAGCCATAAAGAATA ACAATCCGAAATAAACTCAAGCCTTGTCTCTACCACTGAATTCTTCATAG TAATCTGCATAAAGGCCTCTCTTGGTTGCAAAAACATTTGTGTTGTATTA CTCAGTGATACATATATACAGGTTTTACTTGGACTTATGGCTATGTTAAG AAGGAAGACTGTGGTTACATTTTAGTGGAACTAAGGAATACTACCCCCTA GGATTTTCATGAAGCCTGCATTTCATTAACTTCAACTTCAGGCAGTGCAG TCGCTGGCAAGCTGAGCTTTCTCTTGGGTATTGCTAATCCATATTGCTCT CCTCTCCTACATTGATTTCAGTAGCAAGTATAATTTTTTTGCAGCAGCAG ACAGAGAGATTCAGGTGCCTCAAATTTGTTTCTTATTGGAAGCAACTATG CCTGCCATGCCACTTGCAAAACTTCCTTTTTAAAAATATGATAGCTGCTT GTCAACAGTGAGGAATGTTCTTTCTTCCTAGAATACAATTTTTTGTATGT GTCAAACTGATGTTTATCATAGGAAAAACAACACTGAGGTAACTCTTTTC ATTAATCCTAAAGCAATTTTCAATTTGCTTGAAAAAATAATTCAGATAAT TCCCAATTCTGATAAAGTTGTAGAACTAATGGGGACAGTATAAAATGGCT CTTCTTTTCAGAAAATCAGTAGCCAATTTTCTGCCCCCAAACTTAAAAAT GTTGAAATTCCTTGTCCCAGTAATTTCAACTTGTAGAATATATTCTAGGA AAACAGGTCCAAAGAAATTTTAAAAAATTATATATATTCATTGAGTCTTA TAATGAAAAACTCAAACACAATCCAGAAGTCCTATAATTGAGTAGGTAAA TGCACAACAGTATAAGAATTCTATAGGATATTATAAGACCATTTAAAATG TTTCATTGAACCATGATGCAATGTGGGAAATACTTATCACATAATGTTAA GTATGAAAGCAGAAAGTCAAGTATAATGTATATCACAACTATAACTATAA AAATCAATGTACATATTCACATATATGGAATACAAAGTTTGAAAAATGTT AATATTTAGATGGTGGAAATCTGAGTAATATACTCTCCTTTTTTTCTACT CTTACGCTACTTTTATGCAACTAACATATTAATTATCATAAAGTATTGCC ACTCCACCTCCAACAAAGAGGTCGGCCTCAACTCCATGCTACTTTTGATC TATTTGAAGGCTCTGATTTGGCCCGAGTGGAGACCTTTGGTTGAATCCTC AAATTGGATATAAAATATTTCACTGCATAAGTTTCCGTCTTTCCCTTTAC GGTGCGGGTTCTTAAAAGGCTCAAACATAATTAAAAAGCCCAGGACTTTT ACACACTCCAAATCCTCAAGCAGCAGTGGGACAGCAGTCAGACTAAGATG AAAGAGCCCTGGGCCCCCACTGCAGGAACACGGGGCCTTTCATGTTACTC AGTCACCATCACCACCCCCACTCTCCTAAGAAGAAACCCACAGGAAAATC CTGATAGATTTAAAGCCTGTTAAAAAAATTCAACTGAACTCCAGTAATAA AATATTTGCATTGTTTATATAGAGAAATTACCTCAAAGACCTTGAGTACT CATGGCCTCTGCAAAACCTCCTATAGTTGTTTTGGCCAACAGTATGGAAA CAATTATATATGATTAGTACCAGTGAACAAGACTTAATTACTTCACCATT CTACGAAGACCTGATTATAGCTGATTAGCAAAGATCATCAAGCATAAAGT GATTCTTCTTCTAGAATTCAGTGTAAAAGATGCTGATCAATCAGCAAATT CATAGTGCATCCATTTAATTTTACTCTCCATGGCCACTACAGGCAGCTTG CATCTCTCATGTGTCTCCCACAGCTTTCTTTACTGACAATCATTACTATA TTTTGAAATCAATGTGATGTTTTTTTCATCCTTAAGGGACAATAGCAAAG TCCCCATGTTACAGCAAAAACACATTTATATGTACAGCATTATATTACAT GTTGAACTGACATGGAATGAGGACCATCCCTGAGTTGTTAGTCAAGACTT ATCTTGTTAGTCAAGACTTATCATAACAAGAGCACCAACTCTCTGGACCA AGAAACAGCAAAGAGCTGAATTGCACAATCTCGCACAGGCAATGTGTAGA AGGTCTACTTTTGGGTACAAATGGAAATCCTTCCTTTGCAAAGCAAGGAA ACCATTTTGTATTTCTGAAGGGCACATAAGTCAAATGCAACAAAAAAGAA ATCAGAATAACGATCATGAGAAGTGATTTCAAAGGCAGGCCAGCATTAAA TATAAGAATTCCAGAGCTCTTATTTGCACCTAAATGTCACATTTACTCTC ATGAGCCCCTATAGGAATATCCCAGTTAGGTGCCTCTAGGCTGGGTGAGT GGATGAGATAGCCTAGGACCCAGTGGCTGAGCATGAGAAGCAGGTGGGCA CGGCATAGGGGTGGTCCTGAAGCCCAAGGGCACACGCTGGCTACCCACAT CCTGATAGAAAAGTTCCAGGGAGGAACTTAGCTCTGACAAGGACAGGTTG GCCAAATATGTCTACACACTCATCCCACTTCTCCCCCGGTAGGGTGACCA ACTGTCCCAGTTTGCCCTGGACAGGAGTTGCCCAGCAAGACATGCAGTGC TAAAACTGGGACACTCTGGAGCAAACTTACCCCTAAGGCTTGCTGGTATT TTAAGCAACAAGGTCTAAAGACAGAAGGGAGGAGACAGAGATGAATGCAG CTTTTAGCTACACTTCCCTTGTCAATAGTGATTGGAACAAAACAAGGAAC AAGGAAAGAGCTGGTTGGAGTTGGTCTCCAGCGACGTACTAGGCAGTGCC CTGAACATGCATTTCCTCACTTTCCTTTCTGGTCAGCTGTAGGCCTCTGG TAAGGGAGCAAAGCCACTGCTTTTAGAGACTTCTTTTACTCCTTAGAGGG CTGGCTGCTTAGCTTAGTGAAACTGATGGTTATGCAATGTCACAGAAAAA TGCTTATCTTATGAAAAAAATCAATGAAAAACTGAGACTTCACTTGTTTG TACTCTAATTATCACATATTTAAAAATGCTTCAAACCTGGGGAAAGAACA AATCAAAATACAGTTATTTGAGCTATGGTTGATTTATTTTAGATTGGCTA TCTTCTAGGTTTCTGTTTTGTTTTGTTTTTGGCAAATGTGGTTACAATCC TTTTTTTAAATTTTTTTTAAGAGACAGTCTCACTATGTTCCCCTAAGCTG GAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCAACTGCTGGACTC AAGCCATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCAT GCCACTACACCCAGCTAATTTTTTTGTATATTTTGTAGAGACGGGGTTTC GCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCC ACCTCAGCTTCCTTCCCAAAATGCTGGGATTACAGGTATGATCCACCGCA CCTGGCCATAGAATGCTTTTTATTTATTGATTTATTTTTCTTCAACTTTT AAGTTCAGGGGTATATGTGCAGGTTTGTTACATAGGTCAATGTGTGCCAT GGTGGTTTGCTGTACAGATCATCTCATCACCTAGGTATTAAGCCCAGCAT CCATTACCTCCCTCCCCCTGCACCCTCCTGACAGGCCCCAGTATGTGTTG TTCCCCCCATGTGTCCATGTGTTCTCATCGTTTTTTACAAAATAATTCTT TAAAAAGTTTAATTAATTAATTAATTTAGAGACCAGGTTATGAGACTGGC TATTTTTCGTATTTTTGGTAGAGACAGGGTATCACCATGTTGCCAAGGCT GCTCTCAAACTTCTGGGCTCAAGTGATCTACCTGCCTCCTTAAAGTGCTG GGATTACAGGCATGAGCCACTGCACCCAGCCTAGAATGCTTTTATAATGG AAAAAAAAAAAAAAAAGAACAATAATGCTATGAGGTTGGATACCTCAGTT TGGCAAAAGATGAGTCTTTTGGAGAAATAATTTGTAAGAATTCAAATACT ACCATACCAGCTCTCATTTTTTTTTTCATGACAACTAGGTAAAAAGCTTA ATTTTAATTCATAGACAGTCTTTAAAAACTCATTCCAGAATTCAAGCCTT TCCAAGAGACGGCATTTGGTGACTTGGACCACAAGCATCTTTTTCTTCCT CTTTGTCAAAAGGCAGAGATGAGAAAAGCATCTTTATTATTATTAATTCT TTCTTGCTTTTCAACCTGCTTTCATGTGCATAGAGCTTTATTCTTGTACT GCTTCACAAGGTCAGGAACAGAAGTGTTCCACTGTCCGCCTCCACTTTAC TGTTATGGAAACTGTGATACTGTGAGGCAACAGAATGAGTCCTAGATCCC GACTTCCACCCTTCTACCTAAAATTTTTCCTTAAGAAAAGAGCTAAAGTT CCTTCAAACCAACAAGCATTTATTGACTCCCTGCAGCTAACCATTTAGTG CTACCAAAAGCTGCTGGAAACTGAGAGTTAGTTGCATATGAGACACAGTT CACATCTCCGGTTCAGAAACAATCTTGCTCTGTTTGTCTGGCCCTGGTGA CATCTCTTAGTCACCTCTCACTTTGGCTCTATGGACAGGATGTGTGTGAG GGCATTACTCACAGTTGGTGGGGAGTGGCCTTGCTAAACCGCTGTGAAAT ACCAGCAGTGCCTTAAAAACAGGAGCTCCCGAGTGCGTGCTACATCCCCA GGCCTTGCACAGTGCCTGGTACCCCATAAAACCGATGGACAATTACAGGG TATGGATTCTGCTCTTTAATGGTTTCATGTGGTGCTGTATAGTGACCATC TGCTGCTTTTGCATGCCCAGGTCCACTCTCCCTTCTCCTGGAAACTGTAC TTTGTGGGTCACCCACACCTTCAGTGGATACAGCCCTGGTGGGAGTTGTC AATCACAGTGTCCTGCCTCCTCTGGCAAAGGATAAGCACATTACCTAAGT AAAGGCACTCAAATGCTCTTTCCCTGGAATTGGAATCATGGGCAGAGGAC ACAGAGTTCATTGATAAGTCTACTCATTAGTTTTGCTTCCTAGATCCCTA GAATTTTCCCCAATCTGCTGTTCTTTCTTCACCCCACTTCTTCAGTTTTT CCATGAATTCTAAGACCTATCCTGTCTTCCAATCAATTCCATTCATGCTT CAAGTAAGCAGAGTTATTTCTGTCACTGAAACCATGAAATCCAAACTCAT ACACCTTCGGACCAGTGCAGTGCATGCCAACACACCATAACTGGAACTCG TAGACATGTGGGTGAACTTCCAAGAGCTTCAGCCCCTTTTCTGGACATGA GGATGCGACGAACTATACAGAATTGTAACGAGAACTAATGAGACCATGTA CACAAAGTTCCCAGCACAGTGCCTGACACAGAATAAGAGGTCAGTGAGTA TTAGGTCCTCCTCCTTCTCAAGCAAGTTGATCATCTGATAATGATTGGAG AGACTCGACACAGCACTTCTTCTAAATAAACCTTCAGAATATAGGGATGG TCTTTCTGTGTCAAATACTTGGTTGTCAATCTCACTCTTTCAGAAAAAGG CCGACTGTAGGAAGAAATCCAGCCAGGATAAACCTGAACTCTATATATAT TCAAGCTCTCGAAATAATAACACACCCTTGACTACTAATTTTGCATGCAT TGGCCACTGCATCTCAGTCTTTTCTTGAAAGTTAGAGCCATAAATTCATG TATTACTCTTTTAAAGGAACTTCTAATTCTGAAGCCTGGAATTCAAAATC ACATGGAATTCCCCCACACTTAAATGCTAGAAAAGTGTGGTAAAGACTAT GGCTTTTAAAAGGAAGTTTTTGAGTAATAATAAGACTCTCTTGTTGTTTT TCTTATTATGTTCCAGGAACTGTGCTAAGCATTTTACAGCATTCTCAGAA GGCAGGTGTTATTTATCCCATTTTAGGCACAAGGAGGCAGAGGTGTAAGG AGGTAAGTCAGTGTACCATGATCCCCCAACAGGTGACTGAAATTCAAGTT CAGATCGACCTGAGCCCAAACTGTGTGCTTCTAAGTGCTCTTCCACATTG CCTCACTACTGTCTAAGGTCACTAACCTCCATAAGAACACATTGAACAGG TGCTTTATTCTATATTTGTAATTCCACAAGCAAGTGGCAAACCTAAAGTG TGACTCTTTGACATTAAGGATATATGTTTATAGTTATGTGCATAAACTCT ATGGCTGGGTTTGAATCTGACCCCTGCCACTAACTGGCAGTATTATCTTA ATTGAGTTAGCCCATCTAGAGCTCAGTTTCTTCATCTGCACAATGGGTAT AAGAAAAGTGGCCAGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTG GGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATGGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAATAAATACAAAAAAAAAAAA TTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGC GATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCA AAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGCACATATGAATCGGG AGTATTTATGAAACATGATGCATGTGAAGCATGATAAAGTACACAACGGT ACAACAATTTCCAAATGAAATGTTACCTATGGATTAGAATTGTGACTTAG GATGGAGGAGTTAGAACTCCATAAATAACTGCACCAGGCACGCCACTGAC TGGACAGAACTAACAGCAGAAGCTTATAAAAGTAGCCGACACTTTCAGAC AGAAGTCTTGACCTCTGGCCCTGCCTCAGCCCCGCAAGACCTGTGCTCAC TGAGTGATCTTGGATATGTCATCTACTCACTCTGAGCTTTAATTTTCTCC TCTAAATAGTGGAAATAGCTACATCCCACAGCTGTCAGGAGGGCAAATAG GATACCAAACCTAAAGATTTCCTATAACTTGAAGAGCAGGTTTTACCAAT GTTTTTATTGCTCTTTATCAAAGATAAACTAAAAAATAAATTCCTATACT GGAGTGCAGAGGTCTTAAGTTGGCTGTGTGAGGCTTGCATTCAGCATGCA GATGTATTTGGTTAGTCCAAATGGTGTTGTTGTAACTGTTTTTCCATTTA GATGCCAGTGTTATGGACCAAATGTTTGTATCCTCCCAAAACTCAAATGT GGAAAACCTAACAGCCAAAGTGATGGTGTTAGGAGATGGGGCCTTTGGAG GGTGATTAGGGGATAAGAGCAGAGCCCTCATGAATGGAATTAGTGCCCCT ACAAAAGAGACCTCAGAGAGCTCTCTATTACTCTTTCCACCATGTGAGGA TACAAAAAGAGGTCAGTAGTCTGCAACCCAGGAGATCCTCACCAGAACTG ATCATGCTGGTAATCTCATCTCAGATTTCCAGCTTCCAGAACTGTAAGAA ACAATTTTTTCTTGTTTTTAAGCCCTTAGTCTATGTTACTATGTTACAGC AGCCTGAACTAAGACAGTCAGCATTTAAATATTCGGAGATCTGACCAGGC TGGGCCTGTATTTCCTCTCAGCCACAATGAGCTAACACTTTGCGGAGCTG TAACCCTGAGGCACACCCCCACCCCTGCCCTGGTATCCTCACACACACAG GCACAGGGTGGTTGTCATTTATTCAATGCTTATGCTACTGTTTTTCTTAG AAGAGAAAAATATTCTCTGTATCCATACCTCTGTCATGGGTAAAAAAGAT CAGTAGGTCTCAATCCAACACTATCCATTTATTTCACTTCCTTCCTGGAT TTGCAGGTGGTTAAGTGTTCCCTCCATCTGAAATGGAAGGGAAGTGGCCT TTTGTCTGAGTTGGAGAAGAGGGCATGCTCACTTGTGTATGTAGTGTGTT TTGTTTGTTTTTTAGTTTACTCATATGAGATCTCTGCCTATTCAACAGAC ACGTTTATGGAGAGACTAAGGACTAAGTACCATGGGAACAGGTATGGAAA GCTGTGACCCCTGTCTTTCAAATGCTTCAGATTTTTTTTTAACTTTTCAA AGCAGTGAATACTCAGAAAAGGAAAGGGAAATTTATGCTTTCATTCTTTA AGTTTTCCTTAGAAGAGGGGCCAAGAAAAGTCAGTTTCACTTAAACCTTT CTAAAATGCTAGTCCTTTTAACAATTCAAATCATAAATTGAATTTCAGGT TCTAGATGCACATAAATCAGCAGTTTATTCATGAGTTTAACTATCTCAGC AAGAAAACCTTCTCCTAGTAAAGACCTAATGAACAGAATCAGATGAGAAT TAACCCTTATTTTAAATAGAGTATGCCTCTGAGGGGTAAATAATTTAAGG CAGATATAAAGCAACCATTTTAGCCAAAGATACCTGCAGAAGAGTACGTT TACAGACACCTAGAAAGATTCCACACTCTATAAGCACAGATTTTCACTTA AAATTTAAGTCAGGCAGTGCCATGATGATAATCAGAGGTGAAAAAAGAAC TCTGTGCTTTTAATACAGCCTGAGAGATTAGAGACAGAAATGTATATAAG TGTGCATTTTAGTTTATTTTCATTGTTGCTAGCATGAAAGGCTAAGACTG AAAATAAATCATGTGAGGTCCACTTACTGTTCTAAACTTTAACCATTTTT TGTTGTGGTTAAAAAAAAAAAGCACACATGTTACTGACAGAGAACACAAA ACTTTTCTCTTTATTCCCTGCTTACAGCTCTTACTTATTAGGAAAATTAC AGAAATACCAGAGAAGGAGGCTTTGGTATCTCAGCACAACAGGAAAGCAA ATTGTGCTTTTGTGAGAAGGATGGATTTTTGTTGTTGCATTTTTAGACGA AAGATTTATGCTTATATTCTGGTCCATTTACAATATATCATAATACTTTG CAGACAAAGTTATGCTTTTTTCCCAATGATCTAGTGACCTTAATCTCTAA CATTCTGTGGTTTCCTGTTTGGGGAAATGATTGAACAGCAGCCTAAGCTA TTCCAGGCTGCACAGCATTCCCAGTTGGCCTCTATCTGTCTTAGTTTTGA ATGTTCTCCTGTTCACTAATCCAAAAAAAAAATTCTTTTTTAAGGGAATT TTCCCTACAGATGCTAAATCAATGAAACTCCTGCAAATCAGCCCTCCAAA CTTCCTCTTCTGGCTGCTTTACTTATCATTCTTCTATTACAAACTCTAAT GTGGCCAGGAGTTCTTTTGGACTGAAGCAATTAGCATGTCCCACCAGTGC CTTCCCCCTAAGCAGAAAAGAATTAATTTCACTATTATCCAGCTCAACAA ACAATAATTCCCA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02129.hp2 HG02129.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0206 a0006c0013t0001g0206	1	280	0.0036	-10912	c.113 others(19): Show c.1138-9557_1320+1172del		CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/13						chr7	TogoVar
CREBRF_chr5_173051352_173144284	173080581	ACAGACAG others(3): Show ACAGACAGCAT	A A	splice_acceptor_variant others(2): Show splice_acceptor_variant 5_prime_UTR_variant intron_variant	HIGH	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0179 a0001c0001t0020g0179	1	290	0.0034	-10	c.-19 others(21): Show c.-191-2_-184delAGACAGCATC		CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	2/9				184	INFO_REALIGN_3_PRIME	chr5	TogoVar
CRTC2_chr1_153942675_153963612	153948330	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18992.hp2 NA18992.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0059 a0010c0011t0002g0059	1	368	0.0027	0	c.186 others(6): Show c.1862-1G>A		CRTC2	ENSG00000160741.17	transcript	ENST00000368633.2	protein_coding	13/13						chr1	TogoVar
CRTC2_chr1_153942675_153963612	153948331	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18992.hp2 NA18992.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0059 a0010c0011t0002g0059	1	368	0.0027	0	c.186 others(6): Show c.1862-2A>C		CRTC2	ENSG00000160741.17	transcript	ENST00000368633.2	protein_coding	13/13						chr1	TogoVar
CRYBB1_chr22_26594278_26623027	26616340	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0164 a0003c0002t0003g0164	1	424	0.0024	0	c.-19 others(5): Show c.-19-2A>C		CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	1/5						chr22	TogoVar
CSH2_chr17_63867016_63878677	63873340	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	410	0.0024	0	c.11- others(4): Show c.11-1G>A		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	1/4						chr17	TogoVar
CSH2_chr17_63867016_63878677	63873341	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	410	0.0024	0	c.11- others(4): Show c.11-2A>C		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	1/4						chr17	TogoVar
CSN1S1_chr4_69926068_69951574	69936565	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02258.hp2 HG02559.hp2 HG02723.hp2 others(3): Show HG02258.hp2 HG02559.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0058 a0001c0001t0003g0020 a0001c0001t0003g0057 others(1): Show a0001c0001t0001g0058 a0001c0001t0003g0020 a0001c0001t0003g0057 a0001c0001t0003g0059	6	446	0.0135	0	c.154 others(5): Show c.154-1G>C		CSN1S1	ENSG00000126545.14	transcript	ENST00000246891.9	protein_coding	6/15						chr4	TogoVar

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