Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASCC1_chr10_72091032_72221276	72198301	G G	GGAGGGGA others(216): Show GGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGG ACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAG GGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGGACGGGGAGGGGA CGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTGA GGGGAGGGGAGGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	216	0.0046	223	c.311 others(240): Show c.311-1313_311-1312insTCCTCCCCTCCCCCTCCCCTCCCCTCAC CCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCC CTCCCCGTCCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCCCTCC CCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGTCCCC CCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(216): Show TTATATATATATTTTATATATATATACTTTATATATATATTTTATATATA TATACTTTATATATATATTTTATATATATATACTTTATATATATATTTTA TATATATATACTTTATATATATATTTTATATATATATACTTTATATATAT ATTTATACTTTATATATATATTTATATATACTTTATATATATATATATAC TTTATATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0054 a0002c0003t0002g0054	1	314	0.0032	223	c.478 others(242): Show c.4786-1644_4786-1643insTATATATAAATATATATATATAAAGT ATATATATATATATAAAGTATATATAAATATATATATAAAGTATAAATAT ATATATAAAGTATATATATATAAAATATATATATAAAGTATATATATATA AAATATATATATAAAGTATATATATATAAAATATATATATAAAGTATATA TATATAAAATATATATATAAAGTATATATATATAAAATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(216): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGAGAGGGAGGGGGAGGGAGAGGGGAGGGGGAGGGGAGAG GGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0177 a0001c0002t0001g0178 a0001c0001t0009g0177 a0001c0002t0001g0178	2	432	0.0046	223	c.124 others(240): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCTCT CCCCTCCCCCTCCCCTCTCCCTCCCCCTCCCTCTCCCCTCCCCCTCCCCT CGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTCCTCTC CTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCCCTGCC CCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASPG_chr14_104080700_104120582	104085450	C C	CCCCGCCC others(216): Show CCCCGCCCCCACCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCT CTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAGGTCCT GCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACTCCACT CCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCC AGGCCCCGCCCCACCCCGCCATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02622.hp2 others(2): Show HG01884.hp2 HG01891.hp2 HG02622.hp2 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0022 a0002c0003t0005g0055 a0002c0003t0005g0057 others(1): Show a0002c0003t0005g0022 a0002c0003t0005g0055 a0002c0003t0005g0057 a0002c0003t0005g0058	5	368	0.0136	223	c.-32 others(232): Show c.-321_-320insCCCGCCCCCACCCCGCCAGGCCCCGCCCCCACCCCG CCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCC GCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCG GGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCG CCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAA	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		249		chr14	TogoVar
ATP8A2_chr13_25366974_26030851	25869289	T T	TAAAAACA others(216): Show TAAAAACAAAGGAGACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0010 a0001c0003t0008g0010	1	122	0.0082	223	c.318 others(242): Show c.3183+6895_3183+6896insCCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82971776	A A	ACAGGGGC others(216): Show ACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAA GGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGC CGACACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACA CCAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGCCAGAA GGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0155 a0002c0005t0003g0155	1	266	0.0038	223	c.460 others(240): Show c.460-6031_460-6030insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCT GGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(216): Show GGGAGGGAGAGGGGGGAGGAGGGAGGGAGAGGGGGGAGGGGGGGAGGGGG AGGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGA TGGGGATGGGGGAGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGAG GGGGGAGGGGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTG GGGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0239 a0001c0003t0003g0239	1	298	0.0034	223	c.51+ others(236): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCCCCCCT CTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCC CCCCCTCCCCCCTCTCCCTCCCTCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(216): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAAGG AGAGGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGAGG GGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTG GGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	298	0.0034	223	c.51+ others(236): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCC CTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCCCTCCC CCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(216): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCCCTTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18998.hp1 HG02027.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0229 a0001c0001t0003g0193 a0001c0001t0003g0229	2	330	0.0061	223	c.431 others(240): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565147	A A	ATATGTAA others(216): Show ATATGTAATATAATATTTATATTACATATTATGTAATATAATATTTATAT TACATATTATGTAATATAATATTTATATTACATATTATGTAATATAATAT TTATATTACATATTATGTAATATAATATTTATATTACATATTATGTAATA TAATATTTATATTACATATTATGTAATATAATATTTAATTACATATTATG TAATATAATATTTATATTACATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	218	0.0046	223	c.314 others(242): Show c.314-51209_314-51208insATATGTAATATAAATATTATATTACA TAATATGTAATTAAATATTATATTACATAATATGTAATATAAATATTATA TTACATAATATGTAATATAAATATTATATTACATAATATGTAATATAAAT ATTATATTACATAATATGTAATATAAATATTATATTACATAATATGTAAT ATAAATATTATATTACATAATATGTAATATAAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(216): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	436	0.0023	223	c.44 others(234): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C2CD4C_chr19_400445_414147	404571	T T	TGGGAGGG others(216): Show TGGGAGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGG GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCT GAGGGGTGTGGGAGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAAC GGGGTCCTGCCCTGAGGGGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0159 a0001c0001t0053g0159	1	322	0.0031	223	c.25 others(234): Show c.2524_*2525insCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCC ACACCCCTCAAGGCAGGACCCCGTCCCTCCCACACCCCTCAGGGCAGGAC CCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCC TCAGGGCAGGACCCCGTTCCCCCCCCACACCCCTCAGGGCAGGACCCCGT TCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCTCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		873		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27557917	A A	ACCCCCCC others(216): Show ACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATG ACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGACCCCCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0209 a0003c0003t0001g0209	1	326	0.0031	223	c.145 others(240): Show c.145-7413_145-7412insCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGTGGGGGGATGACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCCCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(216): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0309 a0013c0017t0001g0309	1	326	0.0031	223	c.145 others(240): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(216): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0324 a0002c0003t0004g0324	1	328	0.0031	223	c.100 others(242): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(216): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGA GGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGA AGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	364	0.0028	223	c.234 others(240): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(216): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGA AGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	364	0.0028	223	c.234 others(240): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(216): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	223	c.-22 others(234): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(216): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	410	0.0024	223	c.-22 others(234): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(216): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19057.hp1 NA18999.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	223	c.-22 others(234): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(216): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTT CCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	223	c.-22 others(234): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(216): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG03704.hp2 HG01517.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	410	0.0049	223	c.-22 others(234): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD209_chr19_7734993_7752534	7746766	G G	GGACCCAG others(216): Show GGACCCAGGAATCCAGGCCCCAGCCTCTACATTCCCAGGTCCCTGGAACC CAGGCCCCCAGCTCCCACCTCCCCAGGACCCAGGGACCCAGGACCCAGCC TCCCCTTCCCCAGGTCCCAGTAACCCAGGTACCTGCTCCCACCTCCCCAA GACCCAAGAATCTGGGTCCCAGCCCCTACATCCCCAGGTCCCAGGAACCC AGGCCCAAGTCCCCACCTCCCCAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	454	0.0022	223	c.106 others(238): Show c.106+317_107-236dupATGGGGAGGTGGGGACTTGGGCCTGGGTTC CTGGGACCTGGGGATGTAGGGGCTGGGACCCAGATTCTTGGGTCTTGGGG AGGTGGGAGCAGGTACCTGGGTTACTGGGACCTGGGGAAGGGGAGGCTGG GTCCTGGGTCCCTGGGTCCTGGGGAGGTGGGAGCTGGGGGCCTGGGTTCC AGGGACCTGGGAATGTAGAGGCTGGGGCCTGGATTCCTGGGTC	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding	2/6			chr19	TogoVar
CD226_chr18_69848274_69952873	69894560	G G	GGGAGGGG others(216): Show GGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGA AGGGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGG ATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGG AGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGG GCAGGGGAGGGGAAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0099 a0001c0001t0025g0099	1	256	0.0039	223	c.727 others(240): Show c.727+1140_727+1141insTCCCCTCCCCTTCCCCTCCCCTGCCCTT CCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCT CCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCAC TCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCCTTCCC TCCCTTCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCCTCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDC42EP5_chr19_54460026_54478296	54471993	T T	TTCCTCCC others(216): Show TTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG ACCCCCCAGCCCCTCCTCCCTCAGACTCATGAGTCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAGGCCCCCAGCCCC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	421	0.0024	223	c.-14 others(240): Show c.-141-309_-141-308insGGGGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGTCTGGACTCATGAGTCTGAGGGAGGAGGGGCTGGGGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(216): Show ATATATATGAATATATATGATATATATGAATATATGATATATATGAATAT GTGATATATATGAATATATGTGATATATATGAATATATGATATATATGAA TATGTGTGATATATAAATATAGATGAGATATATGGTATATATGATATAGA TGAGATATATGAGATATATATGATATATCATATATATGAATATATATGAT ATATAATATATATGAATATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0021 a0002c0004t0013g0021	1	106	0.0094	223	c.169 others(244): Show c.169+128216_169+128217insTATATATGAATATATATGATATAT ATGAATATATGATATATATGAATATGTGATATATATGAATATATGTGATA TATATGAATATATGATATATATGAATATGTGTGATATATAAATATAGATG AGATATATGGTATATATGATATAGATGAGATATATGAGATATATATGATA TATCATATATATGAATATATATGATATATAATATATATGAATATATATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(216): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0045 a0008c0012t0001g0045	1	440	0.0023	223	c.12 others(234): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881982	A A	ATATAGAT others(216): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	440	0.0023	223	c.11 others(234): Show c.1194_*1195insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		296		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882001	T T	GATAGATA others(216): Show GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATGATATATAGATACATCT ATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	440	0.0023	223	c.11 others(234): Show c.1176_*1177insTAGATGTATCTATATATCTATATAGATGTATCTA TATATCATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATAT ATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTAT CTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGAT GTATCTATATATCTATCTAGATGTATCTATATATCTATC	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		278		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882028	A A	ATATATAG others(216): Show ATATATAGATACATCTATATAGATATATAGATACATCATCTATATAGATA TATAGATACATCTATAGATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAATCTATATAG ATACATCTATATAGATATATAATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG01109.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0074 a0002c0003t0009g0075 a0002c0003t0009g0074 a0002c0003t0009g0075	2	440	0.0046	223	c.11 others(234): Show c.1148_*1149insGATTATATATCTATATAGATGTATCTATATAGAT TATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATCTATAGATGTATCTATATATCTATATA GATGATGTATCTATATATCTATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		250		chr13	TogoVar
CEP112_chr17_65630537_66197133	65970817	T T	TATATTGC others(216): Show TATATTGCATGCATGGCACATTTCTATCGTATGCATGTGGCATATTACAT GCATGTATAACAAATGTATATCACGTACATGTACATTTGCATCACATATA TCACGTGCATGTATCATACATACATATCACATGAATATCGCATACATGTA ACATGTGTGCACATCATACATGTCGCATGCACGTTGCGTGTATTTTACAT TCGTGCCACATGTATAATGCATGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01081.hp1 others(34): Show HG00438.hp1 HG00741.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0001 a0001c0002t0001 a0004c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(34): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0103 a0004c0005t0001g0048 a0004c0005t0001g0055	37	112	0.3304	223	c.173 others(242): Show c.1737-9220_1737-9219insGCATGCATTATACATGTGGCACGAAT GTAAAATACACGCAACGTGCATGCGACATGTATGATGTGCACACATGTTA CATGTATGCGATATTCATGTGATATGTATGTATGATACATGCACGTGATA TATGTGATGCAAATGTACATGTACGTGATATACATTTGTTATACATGCAT GTAATATGCCACATGCATACGATAGAAATGTGCCATGCATGCAATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65970828	C C	CATGGCAC others(216): Show CATGGCACATTTCTATCGTATGCATGTGGCATATTACATGCATGTATAAC AAATGTATATCACGTACATGTACATTTGCATCACATATATCACGTGCATG TATCATACATACATATCACATGAATATCGCATACATGTAACATGTGTGCA CATCATACATGTCGCATGCACGTTGCGTGTATTTTACATTCGTGCCACAT GTATAATGCATGCATATTGCATGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	112	0.0089	223	c.173 others(242): Show c.1737-9231_1737-9230insACATGCAATATGCATGCATTATACAT GTGGCACGAATGTAAAATACACGCAACGTGCATGCGACATGTATGATGTG CACACATGTTACATGTATGCGATATTCATGTGATATGTATGTATGATACA TGCACGTGATATATGTGATGCAAATGTACATGTACGTGATATACATTTGT TATACATGCATGTAATATGCCACATGCATACGATAGAAATGTGCCAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CFAP299_chr4_80330730_80968750	80800576	A A	AAATATAT others(216): Show AAATATATAATAATATAATATATTAATATAAATATATAATATATAATATA TTAATATAAATATATAATATATAATATATTAATATAAATATATAATATAT AATATATTAATATAATATATAATATATAATATATTAATATAAATATATAA TATATAATATATTAATATAAATATATAATATATAATATATTAATATAAAT ATATAATATATAATATATTAATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	96	0.0104	223	c.334 others(242): Show c.334-69406_334-69405insATATAATATATTAATATAAATATATA ATATATAATATATTAATATAAATATATAATATATAATATATTAATATAAA TATATAATATATAATATATTAATATAATATATAATATATAATATATTAAT ATAAATATATAATATATAATATATTAATATAAATATATAATATATAATAT ATTAATATAAATATATAATATATAATATATTAATATAATATATAATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP61_chr20_20047532_20365698	20358039	A A	AGAGGTGG others(216): Show AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGTGAGGGGAGGTGGGCACACTGTGAGGGGAGGTAGTCACACTGAG GGGAGGTGGTCACACTGAGGGAAGGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGA GGGGAGGTGGTCATAGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01433.hp2 HG03017.hp2 others(1): Show HG00323.hp2 HG01433.hp2 HG03017.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0012 a0002c0002 a0001c0006 a0001c0012 a0002c0002	a0001c0006t0002 a0001c0006t0006 a0001c0012t0002 others(1): Show a0001c0006t0002 a0001c0006t0006 a0001c0012t0002 a0002c0002t0002	a0001c0006t0002g0224 a0001c0006t0006g0011 a0001c0012t0002g0099 others(1): Show a0001c0006t0002g0224 a0001c0006t0006g0011 a0001c0012t0002g0099 a0002c0002t0002g0039	4	236	0.0170	223	c.351 others(242): Show c.3514-2088_3514-2087insAGGTAGTCACACTGAGGGGAGGTGGT CACACTGAGGGAAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCATAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGTGAGGGGAGGTGGGCACACTGTGAGGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(216): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAGAAAAGAAA GAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	268	0.0037	223	c.-46 others(242): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(216): Show GGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0001 a0002c0085t0001	a0002c0085t0001g0245 a0002c0085t0001g0245	1	344	0.0029	223	c.85- others(240): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970443	G G	GGGTGAAT others(216): Show GGGTGAATGAGGTCTGGGTGAGTGGGGTCTGTGGGTGACTGAGGTCTGTG GGTGAGTGGGATCTGTGGGGTGAGTGAGGTCTGTGGGTGAATGGGAGCTG TGAAGTGAGGGATCTGTGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTG TGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGTGTGGGGTC TGTGGGGTGAGTGGGGGCTGTGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02922.hp1 others(1): Show HG02572.hp1 HG02818.hp1 HG02922.hp1 HG03130.hp1	a0001 a0057 a0060 a0001 a0057 a0060	a0001c0033 a0057c0132 a0060c0061 a0001c0033 a0057c0132 a0060c0061	a0001c0033t0011 a0057c0132t0020 a0060c0061t0003 a0001c0033t0011 a0057c0132t0020 a0060c0061t0003	a0001c0033t0011g0154 a0001c0033t0011g0168 a0057c0132t0020g0208 others(1): Show a0001c0033t0011g0154 a0001c0033t0011g0168 a0057c0132t0020g0208 a0060c0061t0003g0260	4	412	0.0097	223	c.393 others(240): Show c.3936+178_3936+179insTCCACAGCCCCCACTCACCCCACAGACC CCACACACCCACAGACCCCACTCACCCCACAGACCCCACTCACCCACAGA CCCCACTCACCCACAGACCCCACTCACCCACAGATCCCTCACTTCACAGC TCCCATTCACCCACAGACCTCACTCACCCCACAGATCCCACTCACCCACA GACCTCAGTCACCCACAGACCCCACTCACCCAGACCTCATTCACC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(216): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	350	0.0029	223	c.510 others(242): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(216): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCCAG GGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCAGC AGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02622.hp1 others(15): Show HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0031t0001g0144	18	350	0.0514	223	c.189 others(238): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCATCC GCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CRISP2_chr6_49687359_49718543	49701610	G G	GTATATGT others(216): Show GTATATGTATACATTATATATGTATACATTATATATGTATACATTATATA TGTATACATTATATATGTATACATTATATATGTATACATTATATATGTAT ACATTATATATGTATACATTATATATGTATACATTATATATGTATACATT ATATATGTATACATTATATATGTATACATTATATATGTATACATTATATA TGTATACATTATATATGTATACAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	410	0.0024	223	c.67- others(236): Show c.67-827_67-826insATGTATACATATATAATGTATACATATATAAT GTATACATATATAATGTATACATATATAATGTATACATATATAATGTATA CATATATAATGTATACATATATAATGTATACATATATAATGTATACATAT ATAATGTATACATATATAATGTATACATATATAATGTATACATATATAAT GTATACATATATAATGTATACATATATAATGTATACATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(216): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCATTACTGTC ACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	396	0.0025	223	c.513 others(240): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCATTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DBNDD1_chr16_89999871_90024456	90004342	G G	GCCTGGGC others(216): Show GCCTGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTC CCCTGGCCCGGGCCACCTTTACGTGCAACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCTGCCCCGGGCCACCTTTACGTGCAACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	412	0.0024	223	c.19 others(234): Show c.1992_*1993insGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCAC GTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGC CCCACGTTGCACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAG TCCCGCCCCACGTTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACGTAAAGGTAGCCCAGG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		528		chr16	TogoVar
DCLK2_chr4_150073445_150262438	150251048	A A	ACCCCCAA others(216): Show ACCCCCAAATCCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCAC ACCCCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCC ATCCCCCACATCCCCCACACCCCCACATCCCCCCACACCCCCCACACCCC CACACACCCCCCACACCCCCCACACCCCCACACACCACAAATCCTCCACA CCCCCCAACACCCCCACACACCCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	116	0.0086	223	c.207 others(242): Show c.2073+1366_2073+1367insCCCAAATCCCCCACATCCCCCACACC CCCATCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCCACACC CCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCACATC CCCCCACACCCCCCACACCCCCACACACCCCCCACACCCCCCACACCCCC ACACACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(216): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCA GCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACC TCCCAGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0137 a0002c0003t0003g0137	1	438	0.0023	223	c.663 others(238): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCT GGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGG GTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DIAPH3_chr13_59660583_60168928	59858226	T T	TAAAAAAG others(216): Show TAAAAAAGCAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	208	0.0048	223	c.273 others(242): Show c.2737+3180_2737+3181insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTGCTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	22/27			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(216): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	284	0.0035	223	c.101 others(242): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516786	T T	TAGGGTGG others(216): Show TAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGT GGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGG GGACACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAG GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTA GGGTGGGGGGGACAGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	88	0.0114	223	c.86- others(240): Show c.86-30257_86-30256insCCCTACCCCCTGTCCCCCCCACCCTACC CCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGT CCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCC CCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCC TACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1626358	A A	AGCGGGTG others(216): Show AGCGGGTGCTCACCCTCTGGGTGTGGGTTGGATGGCTTTCCCATCTCTGC CCTGTGGCGGGTGCTCAGCCTCTGGATGTGGGTTGGACGGCTGTTCCCAC CTCTGCCCTGTGGCGGGTGCTCAGCCTCTGGGTGTGGGTTGGACGGCTGT TCCCACCTCTGCCCTGTGGCGGGTGCTCAGCCTCTGGGTGTGGGTTGGAC GGTCGTTCCCATCTCTGCCCTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	223	c.144 others(240): Show c.1443-380_1443-379insGGGTGCTCACCCTCTGGGTGTGGGTTGG ATGGCTTTCCCATCTCTGCCCTGTGGCGGGTGCTCAGCCTCTGGATGTGG GTTGGACGGCTGTTCCCACCTCTGCCCTGTGGCGGGTGCTCAGCCTCTGG GTGTGGGTTGGACGGCTGTTCCCACCTCTGCCCTGTGGCGGGTGCTCAGC CTCTGGGTGTGGGTTGGACGGTCGTTCCCATCTCTGCCCTGTGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTTTTCT others(216): Show TTTTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCCTTCTTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0001 a0014c0031t0001	a0014c0031t0001g0096 a0014c0031t0001g0096	1	126	0.0079	223	c.922 others(244): Show c.9225-23542_9225-23541insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAAGAAGGAAGAAGAAGGAAGAAGAAAGAAGAAGAAGAAGAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DNAH17_chr17_78418697_78582396	78478154	C C	CCATTATC others(216): Show CCATTATCACCATCATATCACCACCACCATCACTATCATAACTATCACCA CCACCATCATCACCACATCACCATCACCATCATCACCACCATCATCACCA CCATCACCATTATCACCACCACCATCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCATCATTATCTCCACCATCACCACCACGTG GCATCATCACATCACCATCATCAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0052 a0052	a0052c0225 a0052c0225	a0052c0225t0001 a0052c0225t0001	a0052c0225t0001g0006 a0052c0225t0001g0006	1	252	0.0040	223	c.799 others(240): Show c.7992+870_7992+871insATGATGATGGTGATGTGATGATGCCACG TGGTGGTGATGGTGGAGATAATGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGT GATGATGGTGGTGATGATGGTGATGGTGATGTGGTGATGATGGTGGTGGT GATAGTTATGATAGTGATGGTGGTGGTGATATGATGGTGATAATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar

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