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
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(309): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG04228.hp2 HG02083.hp1 HG04228.hp2	a0002 a0005 a0002 a0005	a0002c0010 a0005c0032 a0002c0010 a0005c0032	a0002c0010t0010 a0005c0032t0001 a0002c0010t0010 a0005c0032t0001	a0002c0010t0010g0222 a0005c0032t0001g0234 a0002c0010t0010g0222 a0005c0032t0001g0234	2	254	0.0079	316	c.39+ others(333): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCC CCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCAC CCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AUH_chr9_91208823_91366918	91347963	T T	TAAAAAAC others(309): Show TAAAAAACTTTTGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	358	0.0028	316	c.418 others(333): Show c.418+7919_418+7920insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGAACAAAAGTTTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	3/9			chr9	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(309): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	391	0.0026	316	c.36 others(327): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BAZ1B_chr7_73435406_73527293	73479096	A A	AGGTACAT others(309): Show AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 HG01243.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0198 a0001c0003t0006g0199 a0001c0003t0006g0198 a0001c0003t0006g0199	2	200	0.0100	316	c.892 others(331): Show c.892-528_892-527insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	6/19			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(309): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATTATATATAT ATTTATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATATATATATTATATATATATTTATATATATATATATTATAT ATATATTTATATATATATATATTATATATATATTTATATATATATATATT ATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	216	0.0046	316	c.-2- others(333): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATAAATATATATATAATAT ATATATATATAAATATATATATAATATATATATATAAATATATATATAAT ATATATATATATAAATATATATAATATATATATATATATAAATATATATA TAATATATATATATAAATATATATATAATATATATATATATAAATATATA TATTATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(309): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	364	0.0028	316	c.723 others(333): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG CATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAT1_chr12_24805024_24954101	24837036	G G	GAAAAAAA others(309): Show GAAAAAAAAGAAAGAAAAGAAAGAGAGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 NA18940.hp2 HG02738.hp1 HG03669.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0031 a0001c0001t0003 a0001c0002t0031	a0001c0001t0003g0134 a0001c0001t0003g0212 a0001c0002t0031g0036 a0001c0001t0003g0134 a0001c0001t0003g0212 a0001c0002t0031g0036	3	322	0.0093	316	c.818 others(331): Show c.818-441_818-440insTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCTCTCTTTCTTTTCTTTCTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24837036	G G	GAAAAAAA others(309): Show GAAAAAAAGAAAGAAAAGAAAGAGAGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03579.hp2 HG02622.hp2 HG02897.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0067 a0001c0001t0008 a0001c0001t0067	a0001c0001t0008g0045 a0001c0001t0008g0078 a0001c0001t0067g0153 a0001c0001t0008g0045 a0001c0001t0008g0078 a0001c0001t0067g0153	3	322	0.0093	316	c.818 others(331): Show c.818-441_818-440insTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCTCTCTTTCTTTTCTTTCTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCO1_chr16_81233689_81296142	81244407	T T	TAAAAAAT others(309): Show TAAAAAATTGCGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01358.hp2 HG01361.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0310 a0002c0006t0001g0389 a0002c0006t0001g0310 a0002c0006t0001g0389	2	402	0.0050	316	c.65- others(331): Show c.65-1058_65-1057insGGCCGGGCGCGGTGGCTCAAGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGC	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BNC2_chr9_16404503_16875670	16682301	A A	ACATCATA others(309): Show ACATCATAGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTGGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AAGCGTGAGCCACCGCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0087 a0001c0001t0104g0087	1	176	0.0057	316	c.330 others(335): Show c.330+45495_330+45496insCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCTGCCTGGGCCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATGATG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(309): Show TGGATCATAATCTTCGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	416	0.0024	316	c.-42 others(327): Show c.-4254_-4253insGGATCATAATCTTCGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(309): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02129.hp1 HG02818.hp2 others(12): Show HG00597.hp2 HG02129.hp1 HG02818.hp2 HG03017.hp1 HG03710.hp2 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18966.hp2 NA18975.hp2 NA18981.hp1 NA18984.hp2 NA19058.hp2 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 others(5): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0067 a0001c0002t0003 a0001c0002t0004 a0001c0002t0071 a0001c0011t0004	a0001c0001t0009g0040 a0001c0001t0010g0223 a0001c0001t0023g0245 others(11): Show a0001c0001t0009g0040 a0001c0001t0010g0223 a0001c0001t0023g0245 a0001c0001t0067g0227 a0001c0002t0003g0007 a0001c0002t0004g0007 a0001c0002t0004g0018 a0001c0002t0004g0039 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0071g0002 a0001c0011t0004g0216	15	416	0.0361	316	c.-42 others(327): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAATAA others(309): Show AGAAATAACTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTCA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20300.hp1 HG01243.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	2	414	0.0048	316	c.572 others(333): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAACAGTTATTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAATAA others(309): Show AGAAATAACTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTCA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0074 a0007c0005t0001g0074	1	414	0.0024	316	c.572 others(333): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAACAGTTATTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(309): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGGG GCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	394	0.0025	316	c.-44 others(327): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCC GCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGC GCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCG CGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCG CCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCCGGG AGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C2CD4C_chr19_400445_414147	404367	C C	CCCTGAGG others(309): Show CCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGAC GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGG GTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGG TCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTG GGGGGGACGGGTCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	316	c.27 others(327): Show c.2728_*2729insACAGGACCCGTCCCCCCCACACCCCTCAGGGCAG GACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCC CATCCCCCCTCCACACCCCTCAGGGCAGGACCCGTCTCCCCCTCAGACCC CTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGG CAGGACCCCGTCCCCCCCCCACACCCCTCAGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1077		chr19	TogoVar
CA10_chr17_51625320_52163714	51972366	C C	CAAGATTA others(309): Show CAAGATTATCGATGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19011.hp2 HG03453.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0073 a0001c0001t0010g0112 a0001c0001t0001g0073 a0001c0001t0010g0112	2	156	0.0128	316	c.137 others(335): Show c.137-41235_137-41234insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCATCGATAATCTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA8_chr8_60180412_60286400	60282281	T T	TTCCTGTG others(309): Show TTCCTGTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTATATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0090 a0001c0002t0021g0090	1	344	0.0029	316	c.-11 others(327): Show c.-1135_-1134insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAGGCACAGGA	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		882		chr8	TogoVar
CACNA1B_chr9_137872782_138129619	138086966	T T	TTTTTCTT others(309): Show TTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0006 a0001c0047t0006	a0001c0047t0006g0116 a0001c0047t0006g0116	1	248	0.0040	316	c.509 others(335): Show c.5094+8714_5094+8715insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138086966	T T	TTTTTCTT others(309): Show TTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0016 a0001c0017t0016	a0001c0017t0016g0119 a0001c0017t0016g0119	1	248	0.0040	316	c.509 others(335): Show c.5094+8714_5094+8715insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCTGGCTAA TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(309): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp2 NA18971.hp2 others(1): Show HG01168.hp1 HG01168.hp2 NA18971.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0225 a0001c0001t0001g0303	4	366	0.0109	316	c.212 others(335): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(309): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	366	0.0027	316	c.212 others(335): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(309): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	366	0.0027	316	c.212 others(335): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209270	C C	CTCCTTCC others(309): Show CTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCGTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CTTTCCTTCCCTCCTTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0055 a0001c0001t0054 a0001c0001t0055	a0001c0001t0054g0136 a0001c0001t0055g0134 a0001c0001t0054g0136 a0001c0001t0055g0134	2	142	0.0141	316	c.244 others(335): Show c.244+69415_244+69416insAAGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(309): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG01258.hp2 others(4): Show HG01099.hp2 HG01169.hp2 HG01258.hp2 HG02451.hp2 HG03041.hp2 NA18522.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0002g0011 a0001c0001t0002g0021 others(4): Show a0001c0001t0001g0049 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0170 a0001c0001t0003g0104 a0001c0001t0003g0165	7	198	0.0354	316	c.377 others(337): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN7_chr3_15201246_15257916	15252826	C C	CAGGTTAC others(309): Show CAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0020 a0003c0004t0020	a0003c0004t0020g0280 a0003c0004t0020g0280	1	376	0.0027	316	c.15 others(327): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGAAGGGGGGGCGGGGGG AGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGAG AAGGAGGGGGTAGGGAGAGGGGGGGGCAGAGAAAGAGGAGGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGAGGGAGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCTCCCTCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCC TCCTCTTTCTCTGCCCCCCCCTCTCCCTACCCCCTCCTTCTCAACCCCTC TCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCGCCCC CCCTTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGAGGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0035 a0005c0020t0001g0035	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGAGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCTCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00621.hp1 others(27): Show HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01433.hp2 HG01928.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG04228.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18973.hp2 NA18982.hp2 NA18993.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0002 a0001c0017 a0002c0001 others(4): Show a0001c0002 a0001c0017 a0002c0001 a0002c0025 a0003c0009 a0007c0024 a0008c0044	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(6): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0017t0003 a0002c0001t0002 a0002c0025t0002 a0003c0009t0002 a0007c0024t0002 a0008c0044t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 others(23): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0061 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0188 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0216 a0001c0002t0002g0255 a0001c0002t0003g0014 a0001c0002t0007g0196 a0001c0017t0003g0002 a0001c0017t0003g0013 a0002c0001t0002g0113 a0002c0025t0002g0164 a0002c0025t0002g0168 a0003c0009t0002g0036 a0007c0024t0002g0088 a0008c0044t0002g0155	30	276	0.1087	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0123 a0002c0001t0001g0123	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTAACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0067 a0001c0007t0001g0067	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0101 a0002c0001t0001g0101	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCCTTCTCCCTACCCCT TCTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGAGGGAGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04115.hp1 HG03710.hp2 HG04115.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0001 a0002c0001t0001 a0003c0005t0001	a0002c0001t0001g0095 a0003c0005t0001g0242 a0002c0001t0001g0095 a0003c0005t0001g0242	2	276	0.0073	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCTCCCTCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0010 a0003c0023t0010	a0003c0023t0010g0069 a0003c0023t0010g0069	1	276	0.0036	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00735.hp2 others(55): Show HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01192.hp1 HG01243.hp1 HG01515.hp1 HG01884.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp1 NA18951.hp2 NA18955.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18997.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19080.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0003 a0001c0006 others(15): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0026 a0002c0001 a0002c0011 a0002c0013 a0002c0039 a0003c0004 a0003c0005 a0003c0008 a0003c0009 a0003c0012 a0003c0014 a0004c0015 a0006c0019	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(19): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0006t0014 a0001c0007t0001 a0001c0010t0001 a0001c0026t0001 a0001c0026t0011 a0002c0001t0001 a0002c0001t0006 a0002c0011t0001 a0002c0013t0006 a0002c0039t0001 a0003c0004t0001 a0003c0005t0001 a0003c0008t0001 a0003c0009t0001 a0003c0009t0005 a0003c0012t0001 a0003c0014t0001 a0004c0015t0001 a0006c0019t0001	a0001c0002t0001g0203 a0001c0003t0001g0129 a0001c0003t0001g0148 others(53): Show a0001c0002t0001g0203 a0001c0003t0001g0129 a0001c0003t0001g0148 a0001c0003t0001g0214 a0001c0003t0001g0234 a0001c0006t0001g0016 a0001c0006t0014g0019 a0001c0007t0001g0064 a0001c0007t0001g0071 a0001c0007t0001g0212 a0001c0010t0001g0126 a0001c0010t0001g0239 a0001c0010t0001g0240 a0001c0026t0001g0181 a0001c0026t0011g0015 a0002c0001t0001g0070 a0002c0001t0001g0079 a0002c0001t0001g0105 a0002c0001t0001g0139 a0002c0001t0001g0205 a0002c0001t0006g0140 a0002c0001t0006g0143 a0002c0011t0001g0060 a0002c0011t0001g0065 a0002c0011t0001g0100 a0002c0011t0001g0154 a0002c0011t0001g0170 a0002c0013t0006g0146 a0002c0039t0001g0204 a0003c0004t0001g0009 a0003c0004t0001g0183 a0003c0004t0001g0217 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0224 a0003c0004t0001g0225 a0003c0004t0001g0226 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0248 a0003c0004t0001g0250 a0003c0005t0001g0237 a0003c0008t0001g0045 a0003c0008t0001g0052 a0003c0008t0001g0057 a0003c0009t0001g0039 a0003c0009t0005g0040 a0003c0009t0005g0041 a0003c0009t0005g0047 a0003c0012t0001g0011 a0003c0012t0001g0246 a0003c0014t0001g0042 a0003c0014t0001g0043 a0003c0014t0001g0044 a0004c0015t0001g0102 a0006c0019t0001g0051	58	276	0.2101	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGGAGGGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp2 HG03098.hp1 HG00642.hp1 HG01169.hp2 HG03098.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0022 a0004c0015 a0001c0003 a0002c0022 a0004c0015	a0001c0003t0001 a0002c0022t0004 a0004c0015t0008 a0001c0003t0001 a0002c0022t0004 a0004c0015t0008	a0001c0003t0001g0145 a0002c0022t0004g0033 a0004c0015t0008g0125 a0001c0003t0001g0145 a0002c0022t0004g0033 a0004c0015t0008g0125	3	276	0.0109	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCCCTCCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(309): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGG AGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00408.hp1 HG00408.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0218 a0002c0001t0001g0081 a0001c0003t0001g0218 a0002c0001t0001g0081	2	276	0.0073	316	c.286 others(333): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCT CTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(309): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02165.hp2 HG02523.hp1 others(6): Show HG01978.hp1 HG02165.hp2 HG02523.hp1 NA18972.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0210 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0002g0247 a0001c0002t0002g0079 a0001c0002t0002g0261 a0002c0003t0001g0138	9	271	0.0332	316	c.143 others(335): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(309): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01175.hp1 others(10): Show HG00140.hp1 HG01167.hp2 HG01175.hp1 HG01361.hp2 HG02280.hp2 HG02723.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03834.hp2 NA18939.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0003c0006 a0004c0003 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0010t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0005 a0002c0002t0001 a0003c0006t0002 a0003c0006t0003 a0004c0003t0001 a0009c0013t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0221 others(10): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0221 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0002g0129 a0001c0010t0005g0249 a0002c0002t0001g0061 a0003c0006t0002g0095 a0003c0006t0002g0098 a0003c0006t0003g0097 a0004c0003t0001g0024 a0009c0013t0001g0260	13	264	0.0492	316	c.25+ others(333): Show c.25+27795_25+27796insTTTTTTTTTTTTTTTTTTTTGAGATGGA GTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC158_chr4_76308039_76426141	76316970	A A	AAGGAATT others(309): Show AAGGAATTCTAAATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0010 a0006c0010t0006g0011 a0006c0010t0006g0010 a0006c0010t0006g0011	2	348	0.0058	316	c.327 others(335): Show c.3278-3725_3278-3724insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAGATTTAGAATTCCT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24			chr4	TogoVar
CCDC172_chr10_116319448_116385029	116370181	C C	CTACACAA others(309): Show CTACACAACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp2 HG02004.hp1 others(3): Show HG00438.hp1 HG01952.hp2 HG02004.hp1 NA18961.hp2 NA18967.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0120 a0001c0001t0002g0248 others(2): Show a0001c0001t0002g0032 a0001c0001t0002g0120 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0261	6	338	0.0178	316	c.654 others(333): Show c.654-8229_654-8228insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGTACACAACCTTTT	CCDC172	ENSG00000182645.6	transcript	ENST00000333254.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(309): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0055 a0004c0004t0006g0055	1	410	0.0024	316	c.-22 others(327): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88A_chr2_55282842_55424856	55407882	T T	TAACTTTT others(309): Show TAACTTTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCACCACCGCACCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	316	0.0032	316	c.164 others(335): Show c.164+10933_164+10934insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGTGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAGTT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC91_chr12_28185456_28555166	28285663	T T	TCTGTGTT others(309): Show TCTGTGTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	242	0.0041	316	c.110 others(335): Show c.110-19974_110-19973insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCTGTGTTTCTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28285663	T T	TCTGTGTT others(309): Show TCTGTGTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	242	0.0041	316	c.110 others(335): Show c.110-19974_110-19973insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCACGCCCGGCCCTGTGTTTCTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28285663	T T	TCTGTGTT others(309): Show TCTGTGTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00544.hp2 others(81): Show HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0005c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(81): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0124 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0004g0040 a0005c0005t0001g0037 a0005c0005t0001g0078 a0005c0005t0001g0079 a0005c0005t0001g0080 a0005c0005t0001g0081	84	242	0.3471	316	c.110 others(335): Show c.110-19974_110-19973insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCTGTGTTTCTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28285663	T T	TCTGTGTT others(309): Show TCTGTGTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAGTCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	242	0.0041	316	c.110 others(335): Show c.110-19974_110-19973insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAGTCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCTGTGTTTCTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(309): Show CAAGATTTAGTTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01243.hp1 others(1): Show HG00642.hp2 HG01081.hp1 HG01243.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0012 a0004c0005t0007 a0004c0005t0012	a0004c0005t0007g0356 a0004c0005t0007g0358 a0004c0005t0012g0354 others(1): Show a0004c0005t0007g0356 a0004c0005t0007g0358 a0004c0005t0012g0354 a0004c0005t0012g0357	4	362	0.0111	316	c.287 others(335): Show c.2878+2330_2878+2331insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(309): Show CAAGATTTAGTTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02040.hp1 HG02145.hp2 others(6): Show HG02027.hp1 HG02040.hp1 HG02145.hp2 HG02523.hp2 HG03704.hp2 NA18963.hp2 NA18989.hp2 NA18994.hp2 NA19085.hp1	a0004 a0007 a0009 a0004 a0007 a0009	a0004c0005 a0007c0009 a0009c0045 a0004c0005 a0007c0009 a0009c0045	a0004c0005t0007 a0004c0005t0038 a0007c0009t0002 others(1): Show a0004c0005t0007 a0004c0005t0038 a0007c0009t0002 a0009c0045t0051	a0004c0005t0007g0092 a0004c0005t0007g0195 a0004c0005t0007g0204 others(6): Show a0004c0005t0007g0092 a0004c0005t0007g0195 a0004c0005t0007g0204 a0004c0005t0007g0224 a0004c0005t0007g0302 a0004c0005t0007g0355 a0004c0005t0038g0201 a0007c0009t0002g0200 a0009c0045t0051g0337	9	362	0.0249	316	c.287 others(335): Show c.2878+2330_2878+2331insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar

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