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
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(218): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 HG03453.hp2 HG02486.hp2 HG03130.hp1 HG03453.hp2	a0018 a0032 a0018 a0032	a0018c0021 a0032c0063 a0018c0021 a0032c0063	a0018c0021t0001 a0032c0063t0001 a0018c0021t0001 a0032c0063t0001	a0018c0021t0001g0016 a0018c0021t0001g0017 a0032c0063t0001g0015 a0018c0021t0001g0016 a0018c0021t0001g0017 a0032c0063t0001g0015	3	326	0.0092	225	c.145 others(242): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	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(218): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCGCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0319 a0008c0024t0001g0319	1	326	0.0031	225	c.145 others(242): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCG CCCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNB4_chr2_151827771_152104044	151875950	G G	GGGGCGGC others(218): Show GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02683.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG02683.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039	4	230	0.0174	225	c.521 others(240): Show c.521+475_521+476insTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151875950	G G	GGGGCGGC others(218): Show GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGTCTCGCCTGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	230	0.0044	225	c.521 others(240): Show c.521+475_521+476insTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCAGGCGAGACGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CAMK2B_chr7_44212154_44330594	44227775	C C	CTGGGGGA others(218): Show CTGGGGGACAGAGGGGGTGTGGGGGACAGAGGAGGGTGTGGGGGACACAG GAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGACGGAGTGTGGGGG ACAGAGGAGGGTCTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGT GTGGGGGACAGAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAGA GGGGGTGTGGAGGACAGAGGAGGGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG02818.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0106 a0001c0001t0004g0008 a0001c0001t0004g0106	2	242	0.0083	225	c.146 others(244): Show c.1468+1020_1468+1021insCACCCTCCTCTGTCCTCCACACCCCC TCTGTCCCCCACACCCTCCTGTGTCCCCCACACCCTCCTCTGTCCCCCAC ACCCCCTCTGTCCCCCAGACTCTCCCTCTGTCCCCCAGACCCTCCTCTGT CCCCCACACTCCGTCTGTCCCCCACACCCTCCTGTGTCCCCCACACCCTC CTGTGTCCCCCACACCCTCCTCTGTCCCCCACACCCCCTCTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(218): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAG TGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGG GAAGGGGAAGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0284 a0001c0013t0003g0285 a0001c0013t0003g0284 a0001c0013t0003g0285	2	340	0.0059	225	c.104 others(244): Show c.1045+2187_1045+2188insTCCCCCTCCCCCTCCCCTTCCCCTTC CCTGCCCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCA CTCCCCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCC CCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCT CCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44181462	C C	CACTCACA others(218): Show CACTCACATACACAACCACACCACACACACACACACACACACTCACATAC AGACACAACCACACCACACACACACACACACTCACATACACAACCACACT CACACACACACACACACACAGACACAACCACACCACACACACACACACTC ACATACAGACACAACCACACCACACTCACTCACACACATACACACTCACA TACACAACCACACCACACACACACAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03704.hp1 NA18941.hp2 others(3): Show HG00544.hp1 HG03704.hp1 NA18941.hp2 NA18961.hp2 NA18981.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0079 a0002c0002t0001g0231 others(3): Show a0002c0002t0001g0060 a0002c0002t0001g0079 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0356 a0002c0002t0001g0409	6	460	0.0130	225	c.193 others(242): Show c.1938+144_1938+145insTCACATACACAACCACACCACACACACA CACACACACACTCACATACAGACACAACCACACCACACACACACACACAC TCACATACACAACCACACTCACACACACACACACACACAGACACAACCAC ACCACACACACACACACTCACATACAGACACAACCACACCACACTCACTC ACACACATACACACTCACATACACAACCACACCACACACACACATAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735727	G G	GGGGGCGG others(218): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCT GCGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0219 a0004c0010t0002g0219	1	342	0.0029	225	c.158 others(242): Show c.1584-184_1584-183insGCCCCCAGAACCCCCGCCCCGCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAG AACCACCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(218): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCACCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCTCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01074.hp1 others(6): Show HG00558.hp1 HG00621.hp2 HG01074.hp1 HG01884.hp1 HG02027.hp1 HG02809.hp1 NA18939.hp1 NA19064.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0063	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0007t0002 a0001c0063t0001	a0001c0002t0002g0069 a0001c0002t0002g0177 a0001c0003t0001g0081 others(6): Show a0001c0002t0002g0069 a0001c0002t0002g0177 a0001c0003t0001g0081 a0001c0003t0002g0156 a0001c0004t0002g0063 a0001c0005t0002g0077 a0001c0005t0002g0342 a0001c0007t0002g0127 a0001c0063t0001g0266	9	410	0.0220	225	c.-22 others(242): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC ACCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(218): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCACCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCTCACGTCGCCTCCCCCATGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0031 a0001c0053t0031	a0001c0053t0031g0024 a0001c0053t0031g0024	1	410	0.0024	225	c.-22 others(242): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC ACCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCATGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77098732	C C	CCCCCCCA others(218): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GCACGGCTGGCCAGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0271 a0001c0001t0022g0271	1	382	0.0026	225	c.297 others(242): Show c.297+4925_297+4926insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CASQ2_chr1_115695021_115773714	115761452	A A	AGGAAGAA others(218): Show AGGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAAGAAGAAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0325 a0002c0004t0002g0325	1	364	0.0028	225	c.234 others(242): Show c.234+6855_234+6856insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(218): Show AAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	364	0.0028	225	c.234 others(242): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497707	G G	GGGGGGGG others(218): Show GGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGTCAGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCA GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCAGTCCGGGAGGGAAGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	408	0.0025	225	c.178 others(240): Show c.178-325_178-324insACTTCCCTCCCGGACTGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCTGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCNF_chr16_2424447_2463854	2442610	A A	ATATTATT others(218): Show ATATTATTATATATAATATATAATATTATATAATATAATATTATTATATA TAATATATAATATTATATAATATAATATTATTATATATAATATATAATAT TATATAATATAATATTATTATATATAATATATAATATTATATAATATAAT ATTATTATATATAATATATAATATTATATAATATAATATTATTATATATA ATATATAATATTATATAATATAATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	276	0.0036	225	c.778 others(242): Show c.778-1033_778-1032insTATATATAATATATAATATTATATAATA TAATATTATTATATATAATATATAATATTATATAATATAATATTATTATA TATAATATATAATATTATATAATATAATATTATTATATATAATATATAAT ATTATATAATATAATATTATTATATATAATATATAATATTATATAATATA ATATTATTATATATAATATATAATATTATATAATATAATATTATTAT	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(218): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGG GCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGG AGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAG GGCAGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0109 a0002c0002t0109	a0002c0002t0109g0118 a0002c0002t0109g0118	1	256	0.0039	225	c.727 others(242): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCC TTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDC42BPA_chr1_226984865_227323492	227079301	T T	TAAAACTT others(218): Show TAAAACTTTCATCTTCACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTCGGGGGAGGGGGGAGGGATAGTATTGGGAGATATACCTAAT GCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0016 a0004c0009t0016	a0004c0009t0016g0004 a0004c0009t0016g0004	1	352	0.0028	225	c.248 others(244): Show c.2480+1591_2480+1592insTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATACTATCCCTCCCCCCTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTGAAGATGAAAGTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	17/36			chr1	TogoVar
CDH5_chr16_66361691_66409784	66379973	T T	TTGGTGGT others(218): Show TTGGTGGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGT GGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGA TCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATG GTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGAT GGTGGTGATGATAAAGGGGTAGGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	404	0.0025	225	c.210 others(240): Show c.210+483_210+484insCGGTGATGGTGGTGATGATAAAGGGGTAGG TGGTGGTGGTGATCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTG GTGGTGATCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGT GATCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCA CGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCA	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(218): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAAGAAAGAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	316	0.0032	225	c.117 others(244): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAAAGAGAAAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9632717	A A	AACTTTAC others(218): Show AACTTTACTGAGATGGGAAAGATAGTGGAAGGTGGAGGAGGAGCATTCCA TTGAAAGATTGGGGTAGGTAGGATGACAACAATTATTTGGAAATGTTCAA TTACATATTTCAGGCACAATATCATCTAGCTAGTTGGGTGTACAAGTCTT GTGGTTCATGGGAGAGGTGGGAGTGGGCCTCCCTCCTTTCTCCTCTTCCC ATCCTCCCTCACTTGGCATGGGATGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG02615.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0001 a0001c0004t0004g0036 a0001c0004t0004g0199 a0001c0004t0004g0001 a0001c0004t0004g0036 a0001c0004t0004g0199	4	316	0.0127	225	c.117 others(242): Show c.1175-169_1175-168insTTTACTGAGATGGGAAAGATAGTGGAAG GTGGAGGAGGAGCATTCCATTGAAAGATTGGGGTAGGTAGGATGACAACA ATTATTTGGAAATGTTCAATTACATATTTCAGGCACAATATCATCTAGCT AGTTGGGTGTACAAGTCTTGTGGTTCATGGGAGAGGTGGGAGTGGGCCTC CCTCCTTTCTCCTCTTCCCATCCTCCCTCACTTGGCATGGGATGCAC	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9632717	A A	AACTTTAC others(218): Show AACTTTACTGAGATGGGAAAGATAGTGGAAGGTGGAGGAGGAGCATTCCA TTGAAAGATTGGGGTAGGTAGGATGACAACAATTATTTGGAAATGTTCAA TTATATATTTCAGGCACAATATCATCTAGCTAGTTGGGTGTACAAGTCTT GTGGTTCATGGGAGAGGTGGGAGTGGGCCTCCCTCCTTTCTCCTCTTCCC GTCCTCCCTCACTTGGCATGGGATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG03098.hp1 others(1): Show HG01884.hp2 HG02145.hp2 HG03098.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0011 a0001c0005 a0002c0011	a0001c0005t0001 a0001c0005t0004 a0002c0011t0001 a0001c0005t0001 a0001c0005t0004 a0002c0011t0001	a0001c0005t0001g0074 a0001c0005t0001g0077 a0001c0005t0004g0215 others(1): Show a0001c0005t0001g0074 a0001c0005t0001g0077 a0001c0005t0004g0215 a0002c0011t0001g0277	4	316	0.0127	225	c.117 others(242): Show c.1175-169_1175-168insTTTACTGAGATGGGAAAGATAGTGGAAG GTGGAGGAGGAGCATTCCATTGAAAGATTGGGGTAGGTAGGATGACAACA ATTATTTGGAAATGTTCAATTATATATTTCAGGCACAATATCATCTAGCT AGTTGGGTGTACAAGTCTTGTGGTTCATGGGAGAGGTGGGAGTGGGCCTC CCTCCTTTCTCCTCTTCCCGTCCTCCCTCACTTGGCATGGGATGCAC	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20356977	T T	TGTGAGTG others(218): Show TGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTG GAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGG AAGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01099.hp2 others(20): Show HG00140.hp2 HG00323.hp2 HG01099.hp2 HG02056.hp1 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03669.hp2 HG04199.hp2 NA18522.hp2 NA18945.hp2 NA18947.hp1 NA18966.hp2 NA18971.hp1 NA18981.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0002 a0001c0006t0006 a0002c0002t0002 a0003c0005t0002 a0004c0013t0002	a0001c0001t0001g0187 a0001c0001t0002g0057 a0001c0001t0002g0067 others(20): Show a0001c0001t0001g0187 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0145 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0193 a0001c0001t0002g0216 a0001c0001t0002g0235 a0001c0001t0004g0010 a0001c0006t0002g0224 a0001c0006t0006g0011 a0002c0002t0002g0024 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0103 a0002c0002t0002g0134 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0191 a0002c0002t0002g0197 a0003c0005t0002g0062 a0004c0013t0002g0047	23	236	0.0975	225	c.351 others(244): Show c.3514-3232_3514-3231insTGAGTGAGGAGGTAGTCACACTGAGG GGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAG TCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHID1_chr11_862859_915810	881475	G G	GACCACGT others(218): Show GACCACGTCGGGCGGTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGGGC GGTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGGGCGGTAGGCTGGGTG GTGAGGGAAAGGACCACGTCGGGCGGTAGGCTGGGTGGTGAGGGAAAGGA CCACGTCGGGCGGTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGGGCGG TAGGCTGGGTGGTGAGGGAAAGGACC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00597.hp2 others(39): Show HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01928.hp1 HG01952.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03927.hp2 HG06807.hp1 NA18906.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA19000.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0014 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0014 a0002c0002t0018 a0003c0003t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0269 others(35): Show a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0269 a0001c0001t0001g0282 a0002c0002t0001g0005 a0002c0002t0001g0035 a0002c0002t0001g0050 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0083 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0305 a0002c0002t0001g0315 a0002c0002t0001g0325 a0002c0002t0014g0068 a0002c0002t0018g0049 a0003c0003t0001g0249	42	386	0.1088	225	c.959 others(242): Show c.959+1672_959+1673insGGTCCTTTCCCTCACCACCCAGCCTACC GCCCGACGTGGTCCTTTCCCTCACCACCCAGCCTACCGCCCGACGTGGTC CTTTCCCTCACCACCCAGCCTACCGCCCGACGTGGTCCTTTCCCTCACCA CCCAGCCTACCGCCCGACGTGGTCCTTTCCCTCACCACCCAGCCTACCGC CCGACGTGGTCCTTTCCCTCACCACCCAGCCTACCGCCCGACGTGGT	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CNBD1_chr8_86861415_87387859	87136885	T T	TTTATATT others(218): Show TTTATATTAAATATAAATATATATATTTATATTAAATATAAATATATATA TTTATATATAATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTAAATATAAATATATATA TTTATATTAAATATAAATTATATAATTTATATTCTATATAAATTATATAT TATATTTATATTCTATATAAATTATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0147 a0001c0008t0001g0147	1	152	0.0066	225	c.432 others(244): Show c.432-69107_432-69106insTATATTAAATATAAATATATATATTT ATATTAAATATAAATATATATATTTATATATAATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTAAATATAAATATATATATTTATATTAAATATAAATTATATAATTT ATATTCTATATAAATTATATATTATATTTATATTCTATATAAATTATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL26A1_chr7_101357875_101564024	101359188	C C	CCCTCCCG others(218): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACTCCCCCACCTCCC TCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(44): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02280.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03195.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18984.hp1 NA19063.hp2 NA19080.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0002 a0001c0009 a0001c0012 others(8): Show a0001c0002 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0007 a0003c0017 a0003c0018 a0004c0011 a0005c0015 a0007c0016	a0001c0002t0003 a0001c0002t0006 a0001c0002t0018 others(12): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0018 a0001c0009t0003 a0001c0009t0013 a0001c0012t0010 a0001c0013t0010 a0002c0006t0004 a0002c0006t0021 a0002c0007t0004 a0003c0017t0006 a0003c0018t0019 a0004c0011t0003 a0005c0015t0013 a0007c0016t0004	a0001c0002t0003g0015 a0001c0002t0003g0021 a0001c0002t0003g0023 others(44): Show a0001c0002t0003g0015 a0001c0002t0003g0021 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0031 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0006g0003 a0001c0002t0006g0022 a0001c0002t0006g0034 a0001c0002t0006g0041 a0001c0002t0018g0045 a0001c0009t0003g0026 a0001c0009t0013g0014 a0001c0012t0010g0002 a0001c0012t0010g0027 a0001c0013t0010g0028 a0001c0013t0010g0039 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0016 a0002c0006t0004g0024 a0002c0006t0004g0032 a0002c0006t0004g0033 a0002c0006t0004g0042 a0002c0006t0004g0043 a0002c0006t0004g0044 a0002c0006t0004g0055 a0002c0006t0021g0017 a0002c0007t0004g0009 a0002c0007t0004g0020 a0002c0007t0004g0037 a0002c0007t0004g0046 a0002c0007t0004g0053 a0003c0017t0006g0006 a0003c0018t0019g0005 a0004c0011t0003g0012 a0004c0011t0003g0038 a0005c0015t0013g0036 a0007c0016t0004g0035	47	174	0.2701	225	c.-38 others(236): Show c.-3845_-3844insCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3686		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101359188	C C	CCCTCCCG others(218): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGTGGGGGGCTGACTCCCCCACCTCCC TCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	174	0.0058	225	c.-38 others(236): Show c.-3845_-3844insCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGTGGGGGGCTG ACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3686		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101359188	C C	CCCTCCCG others(218): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACTCCCCCACCTCCC TCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	174	0.0058	225	c.-38 others(236): Show c.-3845_-3844insCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3686		chr7	TogoVar
COL5A1_chr9_134636803_134849843	134656889	A A	ATTATAGA others(218): Show ATTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGG CAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAG TTTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02647.hp1 others(4): Show HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG03471.hp1 HG03669.hp2 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0015 a0013c0055	a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 others(4): Show a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 a0001c0005t0014 a0001c0015t0001 a0013c0055t0007	a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(4): Show a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0015t0001g0268 a0013c0055t0007g0257	7	272	0.0257	225	c.109 others(244): Show c.109+14761_109+14762insACGGGGCAGGGGGTGCACTTTATAGA TAATATGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGA CGGGGCAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGG TGCAGTTTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGA TAATATGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COLEC11_chr2_3590112_3649644	3591089	C C	CCCACCTC others(218): Show CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCC CCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTC CCAGTAGGGGCGGCGGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0199 a0002c0006t0001g0199	1	378	0.0027	225	c.-41 others(236): Show c.-4106_-4105insCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG AGGGGTCCTCACTTCCCAGTAGGGGCGGCGGGGCAGAGGCGCCCCTCACC TCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4022		chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(218): Show GCCCCGCCCCTCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCCGCCC CCTCAGTCCGTGGCCCCACCCCTCCCTGCCCCCTCAGTCCGTGGCCCCGC CCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACACCGGGACC TGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCC CCCGCCGCCCCTGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	348	0.0029	225	c.927 others(240): Show c.927+237_927+238insTCCCCGCCCCCTCAGTCCGTGGCCCCGCCC CTCCCCGCCCCCTCAGTCCGTGGCCCCACCCCTCCCTGCCCCCTCAGTCC GTGGCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCA CACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACC TGGAGTCCCCCCCGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(218): Show GCCCCGCCCCTCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCCGCCC CCTCAGTCCGTGGCCCCGCCCCTCCCTGCCCCCTCAGTCCGTGGCCCCGC CCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACACCGGGACC TGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCC CCCGCCGCCCCTGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18747.hp2 NA18950.hp1 others(4): Show NA18612.hp2 NA18747.hp2 NA18950.hp1 NA18971.hp1 NA19011.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0019 a0001c0002 a0008c0019	a0001c0002t0002 a0008c0019t0002 a0001c0002t0002 a0008c0019t0002	a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0254 others(3): Show a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0257 a0008c0019t0002g0253	7	348	0.0201	225	c.927 others(240): Show c.927+237_927+238insTCCCCGCCCCCTCAGTCCGTGGCCCCGCCC CTCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCTGCCCCCTCAGTCC GTGGCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCA CACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACC TGGAGTCCCCCCCGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597986	G G	GTCCACCC others(218): Show GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCAT CCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCC CGCCCACCCATCCGTCCACCCATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0292 a0001c0002t0005g0292	1	348	0.0029	225	c.13 others(236): Show c.1365_*1366insTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACC CATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTG TCCACCCATTCCCCCCGCCCACCCATCCGTCCACCCATCCT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		741		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924143	G G	GACCCGGC others(218): Show GACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACA CTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCACACTAATCCGGCCCCCACACTA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0224 a0007c0007t0001g0224	1	350	0.0029	225	c.488 others(242): Show c.488+1502_488+1503insGGCCCCCCACACTAACCCAGTCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCAC ACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924189	C C	CACACTGA others(218): Show CACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGC CCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCC GGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAAT CCGGCCCCCACACTAACCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18954.hp1 NA18962.hp1 HG02027.hp2 NA18954.hp1 NA18962.hp1	a0004 a0007 a0010 a0004 a0007 a0010	a0004c0050 a0007c0007 a0010c0010 a0004c0050 a0007c0007 a0010c0010	a0004c0050t0003 a0007c0007t0001 a0010c0010t0001 a0004c0050t0003 a0007c0007t0001 a0010c0010t0001	a0004c0050t0003g0218 a0007c0007t0001g0233 a0010c0010t0001g0223 a0004c0050t0003g0218 a0007c0007t0001g0233 a0010c0010t0001g0223	3	350	0.0086	225	c.489 others(242): Show c.489-1535_489-1534insACACTGACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924691	C C	CCCCCCAC others(218): Show CCCCCCACACTACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCC GGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCAACA CTAACCCGGCCCCAACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0291 a0002c0033t0002g0291	1	350	0.0029	225	c.489 others(242): Show c.489-1023_489-1022insACCCCGGCCCCCACACTGACCCAGCCCC CACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAATCC GGCCCCCAACACTAACCCGGCCCCAACACTAACCCGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924806	T T	TCCGGCCC others(218): Show TCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACAC TAACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCAGTCCCCACA CTAACCCAGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCAC ACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCTC ACACTGACCCGGCCCCCCACACTAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19085.hp1 NA18945.hp1 NA19085.hp1	a0007 a0010 a0007 a0010	a0007c0007 a0010c0010 a0007c0007 a0010c0010	a0007c0007t0001 a0010c0010t0003 a0007c0007t0001 a0010c0010t0003	a0007c0007t0001g0212 a0010c0010t0003g0211 a0007c0007t0001g0212 a0010c0010t0003g0211	2	350	0.0057	225	c.489 others(240): Show c.489-893_489-892insTCACACTAACCCGGCCCCTCACACTAACCC AGCCCCCACACTAACCCAGCCCCCACACTGACCCAGTCCCCACACTAACC CAGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCACACTGAC CCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCTCACACTG ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240976780	G G	GTCTCTGG others(218): Show GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp2 HG02109.hp1 others(8): Show HG00642.hp2 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp2 HG03540.hp2 NA19043.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0024 a0001c0060 others(1): Show a0001c0001 a0001c0024 a0001c0060 a0013c0023	a0001c0001t0001 a0001c0001t0002 a0001c0024t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0024t0002 a0001c0060t0001 a0013c0023t0001 a0013c0023t0008	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(8): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0002g0267 a0001c0024t0002g0238 a0001c0024t0002g0342 a0001c0060t0001g0150 a0013c0023t0001g0114 a0013c0023t0008g0110	11	350	0.0314	225	c.440 others(244): Show c.4402-6100_4402-6099insTCTCTGGGGTAGGAGCCTCAGGAGCC CAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGC TCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATC CCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGC TCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977745	A A	AGGAGCCC others(218): Show AGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02922.hp2 others(1): Show HG02258.hp2 HG02717.hp1 HG02922.hp2 NA21309.hp2	a0002 a0003 a0014 others(1): Show a0002 a0003 a0014 a0023	a0002c0002 a0003c0086 a0014c0014 others(1): Show a0002c0002 a0003c0086 a0014c0014 a0023c0054	a0002c0002t0001 a0003c0086t0001 a0014c0014t0001 others(1): Show a0002c0002t0001 a0003c0086t0001 a0014c0014t0001 a0023c0054t0001	a0002c0002t0001g0167 a0003c0086t0001g0066 a0014c0014t0001g0173 others(1): Show a0002c0002t0001g0167 a0003c0086t0001g0066 a0014c0014t0001g0173 a0023c0054t0001g0189	4	350	0.0114	225	c.440 others(244): Show c.4402-5126_4402-5125insGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977745	A A	AGGAGCCC others(218): Show AGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp2 others(5): Show HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp2 NA19240.hp1	a0001 a0014 a0019 others(1): Show a0001 a0014 a0019 a0020	a0001c0020 a0014c0014 a0019c0017 others(1): Show a0001c0020 a0014c0014 a0019c0017 a0020c0026	a0001c0020t0001 a0001c0020t0002 a0014c0014t0001 others(2): Show a0001c0020t0001 a0001c0020t0002 a0014c0014t0001 a0019c0017t0002 a0020c0026t0001	a0001c0020t0001g0129 a0001c0020t0002g0263 a0014c0014t0001g0134 others(5): Show a0001c0020t0001g0129 a0001c0020t0002g0263 a0014c0014t0001g0134 a0014c0014t0001g0135 a0019c0017t0002g0240 a0019c0017t0002g0241 a0019c0017t0002g0242 a0020c0026t0001g0046	8	350	0.0229	225	c.440 others(244): Show c.4402-5126_4402-5125insGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977745	A A	AGGAGCCC others(218): Show AGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0262 a0008c0008t0002g0270 a0008c0008t0002g0262 a0008c0008t0002g0270	2	350	0.0057	225	c.440 others(244): Show c.4402-5126_4402-5125insGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1284266	T T	TGATCTCG others(218): Show TGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCA CTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAG CTAATTTAAATTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGATTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTG TCACCCAGGCTGGAGTGCAGTGGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG01884.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0031 a0001c0001t0002g0032	2	159	0.0126	225	c.77- others(240): Show c.77-1392_77-1168dupAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGATTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTG TCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAG CTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGAC TGCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTDP1_chr18_79674803_79759503	79691881	G G	GGGGGAGG others(218): Show GGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTG GACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGG GTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTG GACGGCTCCCAGGGTGGACTCGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp1 HG02818.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0088 a0001c0001t0006g0089	2	378	0.0053	225	c.315 others(242): Show c.315-3313_315-3312insCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCG GGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGA GTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(218): Show AATTTTTGTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG02615.hp2 others(9): Show HG00597.hp2 HG01243.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0082 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0082 a0001c0001t0002g0083 a0001c0002t0001g0004 a0001c0003t0001g0017 a0001c0003t0001g0057 a0001c0004t0001g0096 a0001c0007t0001g0098 a0001c0008t0001g0003 a0001c0009t0001g0031 a0001c0009t0001g0035	12	100	0.1200	225	c.292 others(244): Show c.2927-2128_2927-2127insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGATTTTTGTATTTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(218): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	284	0.0035	225	c.101 others(244): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(218): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG02293.hp2 HG01496.hp2 HG01928.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0163 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0163	3	284	0.0106	225	c.101 others(244): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	556272	A A	ACCCACCC others(218): Show ACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCC CACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCGAG GACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC CCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGC CGGATCCCAGGACGGCACCCACCCAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	88	0.0114	225	c.86- others(242): Show c.86-69743_86-69742insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCT CGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGG AGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	802011	A A	AGTCCGCA others(218): Show AGTCCGCACCCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAACAGTCT GCACCCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAATGGTCCACACA CCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCC TGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGT CCTCTGTCCTCATGGCCTGGGGAACG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0003t0001 a0001c0002t0022 a0001c0003t0001	a0001c0002t0022g0034 a0001c0003t0001g0026 a0001c0002t0022g0034 a0001c0003t0001g0026	2	40	0.0500	225	c.18+ others(242): Show c.18+64255_18+64256insATCCTCACGGCCTGGGGAATGGTCCACA CACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCT CCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGG GTCCTCTGTCCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCT CCATCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(218): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	126	0.0079	225	c.199 others(244): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAI7_chr12_25103289_25200160	25174520	C C	CATATATA others(218): Show CATATATATCATATATATGGGATATATATATATATCATATATATCATATA TATGGGATATATATATATCATATATATGGGATATATATATCATATATATC ATATATATGGGATATATATATCATATATATCATATATATCATATATATGG GATATATATATCATATATATCATATATATGGGATATATATATCATATATA TCATATATATGGGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	336	0.0030	225	c.22- others(242): Show c.22-13324_22-13323insATCATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATGATATATATATCCCATATATATGA TATATATGATATATATATCCCATATATATGATATATATATATCCCATATA TATGATATATATGATATATATATATATCCCATATATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNMBP_chr10_99870577_100014947	99892060	C C	CGCCCGGC others(218): Show CGCCCGGCCAGCGGCCCCGTCCGGGAGGAAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAAGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG CGAGGGAGGTGGGGGGGTCAGCTCCCCGCCCGGCCAGCGGCCCCGTCCGG GAGGAAGGTGGGGGGGTCAGCCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0230 a0001c0006t0010g0230	1	274	0.0037	225	c.315 others(244): Show c.3156+2885_3156+2886insAGGGGGCTGACCCCCCCACCTTCCTC CCGGACGGGGCCGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTCCCTCG CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCTTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGC AGGGGGCTGACCCCCCCACCTTCCTCCCGGACGGGGCCGCTGGCCGGGC	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar

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