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
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(304): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTC TCTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCT CTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCC CTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0044 a0001c0001t0041g0044	1	122	0.0082	311	c.77- others(326): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCTCTCTC TCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTT TCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT CTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCT CTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTTTCTCTCTTT CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCCTCCCTCCCTCCCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN1L_chr16_71840976_71862328	71841979	T T	TTCTTTTT others(304): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG04228.hp2 HG03704.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	2	418	0.0048	311	c.-43 others(322): Show c.-4305_-4304insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	ATXN1L	ENSG00000224470.9	transcript	ENST00000427980.7	protein_coding		3996		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(304): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0001 a0005c0034t0001	a0005c0034t0001g0029 a0005c0034t0001g0029	1	184	0.0054	311	c.784 others(326): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(304): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0320 a0001c0007t0015g0320	1	364	0.0028	311	c.723 others(328): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTT TTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BMAL2_chr12_27327836_27430286	27348464	A A	AACATTTA others(304): Show AACATTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	310	0.0032	311	c.31+ others(328): Show c.31+15377_31+15378insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCACATTTATTTTTTTTT	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BNC2_chr9_16404503_16875670	16443541	T T	TAAAAATT others(304): Show TAAAAATTGATGAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG06807.hp1 HG02717.hp1 HG02723.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0089 a0001c0001t0009 a0001c0001t0089	a0001c0001t0009g0036 a0001c0001t0009g0117 a0001c0001t0089g0030 a0001c0001t0009g0036 a0001c0001t0009g0117 a0001c0001t0089g0030	3	176	0.0171	311	c.670 others(328): Show c.670-6018_670-6017insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTTTCATCAATTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BTBD9_chr6_38163451_38644929	38527801	T T	TCCCACTT others(304): Show TCCCACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0103 a0001c0001t0151g0103	1	224	0.0045	311	c.115 others(332): Show c.1154+49798_1154+49799insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCTGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTGGG	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCAGCG others(304): Show GGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03540.hp1 HG02717.hp1 HG03540.hp1	a0002 a0003 a0002 a0003	a0002c0063 a0003c0028 a0002c0063 a0003c0028	a0002c0063t0001 a0003c0028t0004 a0002c0063t0001 a0003c0028t0004	a0002c0063t0001g0287 a0003c0028t0004g0028 a0002c0063t0001g0287 a0003c0028t0004g0028	2	338	0.0059	311	c.300 others(328): Show c.300-9106_300-9105insTCAGCGTGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(304): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGC TCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGA AAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGG GGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCG AAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02165.hp1 NA18966.hp1 others(2): Show HG02015.hp2 HG02165.hp1 NA18966.hp1 NA18979.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0141	5	250	0.0200	311	c.-21 others(328): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCTCAGAGCTTCCCCTTCAGAGCCTT CCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTCC CCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(304): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGAAGGATCTGAGGGGCG AAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0145	1	250	0.0040	311	c.-21 others(328): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCC GCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCTC ATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGAG CCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCCTT CCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTCC CCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(304): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGTCGG CCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01106.hp1 others(17): Show HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01975.hp2 HG02071.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02970.hp2 HG03516.hp2 HG03540.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18957.hp2 NA18964.hp1 NA18983.hp2 NA19000.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 others(17): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0092 a0001c0001t0007g0070	20	198	0.1010	311	c.377 others(332): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(304): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGTCGG CCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	198	0.0051	311	c.377 others(332): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(304): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGTCGG CCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG02145.hp2 others(1): Show HG01099.hp2 HG01169.hp2 HG02145.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0002g0011 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0002g0011 a0001c0001t0003g0104	4	198	0.0202	311	c.377 others(332): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CCDC102B_chr18_68793080_69060189	68822512	T T	TTATTTTT others(304): Show TTATTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19004.hp2 HG01943.hp1 NA19004.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0004 a0002c0005 a0003c0004	a0002c0005t0001 a0003c0004t0001 a0002c0005t0001 a0003c0004t0001	a0002c0005t0001g0182 a0003c0004t0001g0180 a0002c0005t0001g0182 a0003c0004t0001g0180	2	216	0.0093	311	c.-15 others(330): Show c.-15-14223_-15-14222insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATTTTTGTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(304): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00733.hp2 others(9): Show HG00099.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG02738.hp2 HG03688.hp1 NA18949.hp2 NA18954.hp1 NA18973.hp1 NA18979.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 others(9): Show a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0002g0224 a0001c0001t0002g0232	12	264	0.0455	311	c.25+ others(328): Show c.25+27795_25+27796insTTTTTTTTTTTTTTTGAGATGGAGTTTC GCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(304): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	410	0.0024	311	c.-22 others(322): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCN6_chr6_112049104_112074686	112074313	T T	TAAAACAA others(304): Show TAAAACAAACTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTAGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	430	0.0023	311	c.46 others(322): Show c.4693_*4694insAAAACAAACTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA AGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTAGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAA	CCN6	ENSG00000112761.22	transcript	ENST00000368666.7	protein_coding		4628		chr6	TogoVar
CD58_chr1_116509534_116576026	116566975	T T	TAAAAAAT others(304): Show TAAAAAATACAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	288	0.0035	311	c.70+ others(326): Show c.70+3927_70+3928insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTTTTTGTATTTTTT	CD58	ENSG00000116815.16	transcript	ENST00000369489.10	protein_coding	1/5			chr1	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(304): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18965.hp2 HG02015.hp1 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0070 a0001c0002t0002g0074	2	418	0.0048	311	c.325 others(326): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCA2_chr8_25454233_25512911	25492134	T T	TGGGGGGT others(304): Show TGGGGGGTCTCACCTTGTTGCCCAGGCTGGTCTCAGACTCTTCCTGGGCT CAATCACTTCTCTCACCCCAGCTTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCACGCCTGGCTGGCTAATTTTTTTTTACTTTCTTGAAGCAGCGG GGGGTTGGGGGGTCTCACCTTGTTGCCCAGGCTGGTCTCAGACTCTTCCT GGGCTCAATCACTTCTCTCACCCCAGCTTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCACGCCTGGCTGGCTAATTTTTTTTTACTTTCTTGAAGC AGCGGGGGGTTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	326	0.0031	311	c.167 others(330): Show c.1671+3541_1671+3542insGTGAGCCACCACGCCTGGCTGGCTAA TTTTTTTTTACTTTCTTGAAGCAGCGGGGGGTTGGGGGGTCTCACCTTGT TGCCCAGGCTGGTCTCAGACTCTTCCTGGGCTCAATCACTTCTCTCACCC CAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCTG GCTAATTTTTTTTTACTTTCTTGAAGCAGCGGGGGGTTGGGGGGGTCTCA CCTTGTTGCCCAGGCTGGTCTCAGACTCTTCCTGGGCTCAATCACTTCTC TCACCCCAGCTTCCCAAAGTGCTGGGATTACAGGC	CDCA2	ENSG00000184661.14	transcript	ENST00000330560.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDCA2_chr8_25454233_25512911	25492134	T T	TGGGGGGT others(304): Show TGGGGGGTCTCACCTTGTTGCCCAGGCTGGTCTCAGACTCTTCCTGGGCT CAATCACTTCTCTCACCCCAGCTTCCCAAAGTGCTGGGATTACAGGCTTG AGCCACCACGCCTGGCTGGCTAATTTTTTTTTACTTTCTTGAAGCAGCGG GGGGTTGGGGGGTCTCACCTTGTTGCCCAGGCTGGTCTCAGACTCTTCCT GGGCTCAATCACTTCTCTCACCCCAGCTTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCACGCCTGGCTGGCTAATTTTTTTTTACTTTCTTGAAGC AGCGGGGGGTTG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19006.hp2 NA19009.hp2 others(4): Show NA18989.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	7	326	0.0215	311	c.167 others(330): Show c.1671+3549_1671+3550insCCACGCCTGGCTGGCTAATTTTTTTT TACTTTCTTGAAGCAGCGGGGGGTTGGGGGGTCTCACCTTGTTGCCCAGG CTGGTCTCAGACTCTTCCTGGGCTCAATCACTTCTCTCACCCCAGCTTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCTGGCTAATTT TTTTTTACTTTCTTGAAGCAGCGGGGGGTTGGGGGGGTCTCACCTTGTTG CCCAGGCTGGTCTCAGACTCTTCCTGGGCTCAATCACTTCTCTCACCCCA GCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCA	CDCA2	ENSG00000184661.14	transcript	ENST00000330560.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(304): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCACCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCT CTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG03540.hp1 others(1): Show HG02055.hp1 HG02630.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0006t0021	a0001c0001t0001g0032 a0001c0003t0001g0038 a0001c0003t0005g0054 others(1): Show a0001c0001t0001g0032 a0001c0003t0001g0038 a0001c0003t0005g0054 a0001c0006t0021g0004	4	106	0.0377	311	c.169 others(332): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCA CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCT CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(304): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCT CTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02809.hp1 HG00738.hp2 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0049 a0001c0003t0002 a0001c0006t0049	a0001c0003t0002g0002 a0001c0006t0049g0071 a0001c0003t0002g0002 a0001c0006t0049g0071	2	106	0.0189	311	c.169 others(332): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCGCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCT CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(304): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCT CTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	311	c.169 others(332): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(304): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCT CTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(8): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG01243.hp1 HG01346.hp2 HG01884.hp2 HG02109.hp1 HG02895.hp1 NA18522.hp2 NA18941.hp1 NA18960.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0008 a0004c0024	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 others(7): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0002c0002t0012 a0002c0004t0003 a0002c0004t0026 a0002c0008t0001 a0002c0008t0025 a0004c0024t0028	a0001c0001t0002g0007 a0001c0001t0009g0013 a0001c0001t0014g0106 others(8): Show a0001c0001t0002g0007 a0001c0001t0009g0013 a0001c0001t0014g0106 a0001c0001t0017g0065 a0002c0002t0012g0082 a0002c0002t0012g0104 a0002c0004t0003g0011 a0002c0004t0026g0050 a0002c0008t0001g0028 a0002c0008t0025g0024 a0004c0024t0028g0016	11	106	0.1038	311	c.169 others(332): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCT CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(304): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCT CTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02630.hp1 HG02040.hp1 HG02040.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0025 a0001c0001 a0002c0025	a0001c0001t0002 a0001c0001t0051 a0002c0025t0047 a0001c0001t0002 a0001c0001t0051 a0002c0025t0047	a0001c0001t0002g0060 a0001c0001t0051g0083 a0002c0025t0047g0051 a0001c0001t0002g0060 a0001c0001t0051g0083 a0002c0025t0047g0051	3	106	0.0283	311	c.169 others(332): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCT CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCTTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(304): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCT CTCCCTGACCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0029 a0001c0006t0006g0029	1	106	0.0094	311	c.169 others(332): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCG CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCCTCCCTCCCTCTCTCTCCCTGACCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65814365	T T	TGAAAAAG others(304): Show TGAAAAAGATAAATGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02559.hp2 others(1): Show HG01516.hp2 HG01517.hp2 HG02559.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0027 a0002c0004t0033 a0002c0004t0061 a0001c0006t0027 a0002c0004t0033 a0002c0004t0061	a0001c0006t0027g0147 a0001c0006t0027g0148 a0002c0004t0033g0079 others(1): Show a0001c0006t0027g0147 a0001c0006t0027g0148 a0002c0004t0033g0079 a0002c0004t0061g0146	4	208	0.0192	311	c.506 others(326): Show c.506-105_506-104insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAGAAAAAGATAAATGA	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(304): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0045 a0002c0004t0045	a0002c0004t0045g0002 a0002c0004t0045g0002	1	208	0.0048	311	c.626 others(328): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDS2_chr20_5122008_5202887	5168260	T T	TAAAAATT others(304): Show TAAAAATTATCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0032 a0001c0004t0016g0032	1	348	0.0029	311	c.58- others(326): Show c.58-5249_58-5248insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAATTATCTGGG	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPP_chr9_92320953_92625529	92520052	A A	AGGGAAGA others(304): Show AGGGAAGATTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG02976.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	260	0.0077	311	c.565 others(330): Show c.565-91249_565-91248insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCGGGAAGATTTCTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPV_chr17_16337537_16358469	16345411	A A	AATATAAA others(304): Show AATATAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02922.hp2 others(2): Show HG02451.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037	5	356	0.0140	311	c.580 others(326): Show c.580-701_580-700insATATATTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTAATTTTTATAT	CENPV	ENSG00000166582.11	transcript	ENST00000299736.5	protein_coding	3/4			chr17	TogoVar
CFAP90_chr5_7825378_7856133	7845926	T T	TGACACTC others(304): Show TGACACTCACATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGAGGTTTCACAGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0074 a0001c0005t0006g0074	1	420	0.0024	311	c.147 others(328): Show c.147+4948_147+4949insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACTGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATGTGAGTGTC	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114200056	T T	TGCTTACG others(304): Show TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTC CCCCGCTGAGGGGTGACGGCGTGTCCCCGTGCTTACGGTCCCCGCTGAGG GGTGACGGCGTGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTAACAGGGC GTCCCCTCGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCT TATGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0344 a0001c0001t0006g0344	1	400	0.0025	311	c.172 others(326): Show c.172-268_172-267insCTTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGC TTACGGTCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGCTTACGGTCCCC GCTGAGGCGTAACAGGGCGTCCCCTCGCGTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTATG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(304): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCGCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03195.hp2 HG03225.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0204 a0003c0007t0001g0211 a0003c0007t0001g0204 a0003c0007t0001g0211	2	428	0.0047	311	c.217 others(328): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(304): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02976.hp1 others(2): Show HG02145.hp2 HG02622.hp1 HG02976.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129	5	384	0.0130	311	c.215 others(326): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CMSS1_chr3_99812862_100186732	99936540	T T	TAATTTTT others(304): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19043.hp2 NA18973.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0019 a0001c0001t0001 a0002c0002t0019	a0001c0001t0001g0197 a0002c0002t0019g0012 a0001c0001t0001g0197 a0002c0002t0019g0012	2	232	0.0086	311	c.64+ others(330): Show c.64+118512_64+118513insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAATTTTTGTATTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136902	A A	ATAAATTA others(304): Show ATAAATTATATATTTATATTATATATAAATTATATATTTATATTATATAT AAATATATATATTTATATAAAATATAAATATATATATTATATATAATATA AATATATATATTTATATATGTATATTTATATATAATATAAATTATATAAT TTATATTATATATAAATTATATAATTTATATTATATATAAATATATATAT TTATATTCTATATAAATTATATAATTTATATTCTATATAAATTATATAAT TTATATTCTATATAAATTATATAATTTATATTCTATATAAATATATATAT TTATATTCTATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	152	0.0066	311	c.432 others(330): Show c.432-69078_432-69077insTATATTATATATAAATTATATATTTA TATTATATATAAATATATATATTTATATAAAATATAAATATATATATTAT ATATAATATAAATATATATATTTATATATGTATATTTATATATAATATAA ATTATATAATTTATATTATATATAAATTATATAATTTATATTATATATAA ATATATATATTTATATTCTATATAAATTATATAATTTATATTCTATATAA ATTATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAA ATATATATATTTATATTCTATGTAAATTATATATT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT2_chr12_70238433_70359993	70286106	T T	TCATATTT others(304): Show TCATATTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGG ACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01069.hp2 others(27): Show HG00323.hp1 HG00609.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03710.hp1 HG04204.hp1 NA18906.hp1 NA18942.hp2 NA18954.hp2 NA18970.hp2 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012	a0001c0001t0003g0248 a0001c0001t0003g0265 a0001c0001t0004g0244 others(27): Show a0001c0001t0003g0248 a0001c0001t0003g0265 a0001c0001t0004g0244 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0263 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0253 a0001c0001t0005g0255 a0001c0001t0005g0257 a0001c0001t0005g0262 a0001c0001t0005g0273 a0001c0001t0007g0250 a0001c0001t0007g0252 a0001c0001t0007g0259 a0001c0001t0007g0269 a0001c0001t0012g0241	30	280	0.1071	311	c.48+ others(326): Show c.48+7841_48+7842insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG TGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCATATTTTC	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(304): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02145.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0014 a0001c0001t0001g0042	2	223	0.0090	311	c.-42 others(322): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNTNAP5_chr2_124020287_124926219	124759501	T T	TCATCTGT others(304): Show TCATCTGTGGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0055 a0001c0002t0016g0055	1	64	0.0156	311	c.223 others(330): Show c.2235-4155_2235-4154insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCATCTGTGGTATTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL12A1_chr6_75079326_75211053	75143568	T T	TAAGAAGG others(304): Show TAAGAAGGTTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0028 a0028	a0028c0049 a0028c0049	a0028c0049t0005 a0028c0049t0005	a0028c0049t0005g0192 a0028c0049t0005g0192	1	206	0.0049	311	c.469 others(328): Show c.4691-181_4691-180insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGAAAAACCTTCTT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	25/65			chr6	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(304): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18983.hp1 NA19065.hp1 others(2): Show NA18954.hp2 NA18983.hp1 NA19065.hp1 NA19077.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0003 a0001c0003t0002 a0001c0001t0002 a0001c0002t0003 a0001c0003t0002	a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0002t0003g0269 others(2): Show a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0002t0003g0269 a0001c0003t0002g0186 a0001c0003t0002g0196	5	324	0.0154	311	c.365 others(330): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(304): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(218): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0002c0005 a0002c0008 a0002c0027 a0002c0033 a0002c0034 a0003c0014 a0004c0012 a0004c0023 a0005c0010 a0005c0029 a0007c0036 a0010c0030 a0011c0022 a0013c0018 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0009t0005 a0001c0011t0001 a0002c0005t0001 a0002c0008t0001 a0002c0027t0003 a0002c0033t0001 a0002c0034t0012 a0003c0014t0002 a0004c0012t0001 a0004c0012t0002 a0004c0023t0002 a0005c0010t0002 a0005c0029t0002 a0007c0036t0001 a0010c0030t0002 a0011c0022t0002 a0013c0018t0002 a0014c0019t0002	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 others(218): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0007g0006 a0001c0001t0013g0068 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0249 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0324 a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0002t0002g0165 a0001c0002t0002g0206 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0285 a0001c0002t0002g0323 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0238 a0001c0002t0003g0241 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0259 a0001c0002t0003g0262 a0001c0002t0003g0265 a0001c0002t0003g0268 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0320 a0001c0002t0004g0293 a0001c0002t0004g0295 a0001c0002t0004g0296 a0001c0002t0004g0305 a0001c0002t0004g0307 a0001c0002t0005g0240 a0001c0002t0005g0267 a0001c0002t0006g0287 a0001c0002t0014g0292 a0001c0002t0015g0253 a0001c0002t0016g0242 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0030 a0001c0003t0001g0042 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0066 a0001c0003t0001g0072 a0001c0003t0001g0076 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0104 a0001c0003t0001g0116 a0001c0003t0001g0125 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0191 a0001c0003t0002g0050 a0001c0003t0002g0109 a0001c0003t0002g0117 a0001c0003t0002g0119 a0001c0003t0002g0121 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0145 a0001c0004t0001g0217 a0001c0004t0001g0227 a0001c0004t0001g0274 a0001c0004t0001g0282 a0001c0004t0002g0155 a0001c0004t0002g0163 a0001c0004t0002g0173 a0001c0004t0002g0220 a0001c0004t0002g0276 a0001c0004t0002g0283 a0001c0004t0002g0284 a0001c0004t0002g0322 a0001c0004t0003g0237 a0001c0004t0003g0254 a0001c0004t0003g0258 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0248 a0001c0004t0005g0270 a0001c0006t0001g0012 a0001c0006t0001g0019 a0001c0006t0002g0059 a0001c0006t0002g0069 a0001c0007t0001g0180 a0001c0007t0001g0208 a0001c0007t0001g0290 a0001c0007t0003g0182 a0001c0009t0001g0179 a0001c0009t0001g0215 a0001c0009t0005g0239 a0001c0011t0001g0001 a0002c0005t0001g0183 a0002c0008t0001g0110 a0002c0027t0003g0264 a0002c0033t0001g0309 a0002c0034t0012g0153 a0003c0014t0002g0028 a0004c0012t0001g0026 a0004c0012t0002g0089 a0004c0023t0002g0090 a0005c0010t0002g0103 a0005c0010t0002g0107 a0005c0029t0002g0230 a0007c0036t0001g0225 a0010c0030t0002g0189 a0011c0022t0002g0135 a0013c0018t0002g0098 a0014c0019t0002g0097	221	324	0.6821	311	c.365 others(330): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(304): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp2 HG02071.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0221 a0001c0004t0001g0228 a0001c0002t0001g0221 a0001c0004t0001g0228	2	324	0.0062	311	c.365 others(330): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(304): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	324	0.0031	311	c.365 others(330): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(304): Show CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAGGCAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0252 a0002c0004t0001g0252	1	344	0.0029	311	c.85- others(328): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116163180	T T	TAGAATGT others(304): Show TAGAATGTATTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(55): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp2 NA18991.hp1 NA19001.hp1 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19082.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0011 others(53): Show a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067	58	350	0.1657	311	c.510 others(330): Show c.510+29016_510+29017insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGAATGTATTTCTT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(304): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0125 a0001c0003t0002g0125	1	140	0.0071	311	c.540 others(326): Show c.540+714_540+715insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB1_chr2_207524962_207610988	207607677	T T	TATCATAC others(304): Show TATCATACATACATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAATGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	308	0.0033	311	c.10 others(324): Show c.10619_*10620insATCATACATACATTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAATGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCC	CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding		1690		chr2	TogoVar

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