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
CAMKMT_chr2_44356947_44777592	44588648	T T	TGGGGGGA others(174): Show TGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	198	0.0051	181	c.377 others(202): Show c.377-115629_377-115628insATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(174): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG GAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp2 HG02630.hp2 others(4): Show HG01106.hp2 HG01167.hp2 HG02630.hp2 HG02922.hp2 HG02970.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 others(4): Show a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011	7	340	0.0206	181	c.104 others(200): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCC TTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	550778	T T	TCCCCGTC others(174): Show TCCCCGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGCCGGTGAGGGT CCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGGTCAGTGAGGGC CCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGCC CCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG01891.hp1 HG02055.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0002 a0006c0026t0001 a0006c0026t0002	a0006c0026t0001g0281 a0006c0026t0002g0282 a0006c0026t0001g0281 a0006c0026t0002g0282	2	410	0.0049	181	c.206 others(198): Show c.2067-521_2067-520insCGTCGGTGAGGGTCCCGGTCGGTGAGGG TCCCCTGCCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGG GTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGG CCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTC CCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(174): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGGCTGACCCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	382	0.0026	181	c.297 others(198): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCTGACCCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCG GGC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(174): Show CATATATCTCATATATATGATATATATATCTCATATATCTCATATATATG ATATATATATCTCATATATCTCATATATATGATATATATATCTCATATAT CTCATATATATGATATATATATATCTCATATATCTCATATATATGATATA TATATCTCATATATATGATATATCTATCTCAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0008 a0005c0013t0008	a0005c0013t0008g0060 a0005c0013t0008g0060	1	274	0.0037	181	c.225 others(200): Show c.225+31732_225+31733insATGAGATAGATATATCATATATATGA GATATATATATCATATATATGAGATATATGAGATATATATATATCATATA TATGAGATATATGAGATATATATATCATATATATGAGATATATGAGATAT ATATATCATATATATGAGATATATGAGATATATATATCATATATATGAGA TATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(174): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0015	1	410	0.0024	181	c.-22 others(192): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(174): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	410	0.0024	181	c.-22 others(192): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(174): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	181	c.-22 others(192): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(174): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02056.hp1 HG01981.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	424	0.0047	181	c.-29 others(198): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(174): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	424	0.0024	181	c.-29 others(198): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATTTATATAAATA TATATATAACATATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(174): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGGAGAGAGGG AGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAA GGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp2 HG02630.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0042 a0001c0015t0001 a0001c0001t0042 a0001c0015t0001	a0001c0001t0042g0026 a0001c0015t0001g0027 a0001c0001t0042g0026 a0001c0015t0001g0027	2	320	0.0063	181	c.-12 others(198): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCCT CCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(174): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGGG AGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAA GGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0057 a0006c0033t0057	a0006c0033t0057g0025 a0006c0033t0057g0025	1	320	0.0031	181	c.-12 others(198): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCCT CCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(174): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGGGGGGAGGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGGG AGAGAAGGAAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAA GGGAGGAAGGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18989.hp2 NA18992.hp1 NA18970.hp2 NA18989.hp2 NA18992.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0035 a0007c0010t0004g0036 a0007c0010t0004g0199 a0007c0010t0004g0035 a0007c0010t0004g0036 a0007c0010t0004g0199	3	320	0.0094	181	c.-12 others(198): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCCCCTCCCCCTCTCCTCCCCCTACCCT CCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEP72_chr5_607340_658553	648328	A A	ATGGACTG others(174): Show ATGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACCACGA GGCATGGACTGTGAGATGGGACTGTGAGGTATGTGACCATGGGGTGTGGG CTGTGAGGTATCAACCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACTGT GAGGTATGACTGTGAGGTGTGACTGTGAGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01433.hp1 others(14): Show HG00735.hp1 HG01069.hp2 HG01433.hp1 HG01981.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18942.hp1 NA18982.hp1 NA20752.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(14): Show a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0005c0007t0001g0076	17	91	0.1868	181	c.177 others(198): Show c.1778+457_1778+637dupCACGAGGCATGGACTGTGAGATGGGACT GTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGTATGACTGTGAGGTGTGAC TGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGT GAC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	648483	A A	ATGACTGT others(174): Show ATGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGTGTGACCACGAGGCATGGACTGTGAGATGGGACTG TGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	91	0.0110	181	c.177 others(198): Show c.1778+637_1778+638insCACGAGGCATGGACTGTGAGATGGGACT GTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGAC TGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGT GAC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP47_chrX_35914734_36390317	36182762	T T	TAAAAAAA others(174): Show TAAAAAAACTCCATAAAGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA AAACAAAAAAACAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0033 a0033	a0033c0078 a0033c0078	a0033c0078t0003 a0033c0078t0003	a0033c0078t0003g0134 a0033c0078t0003g0134	1	216	0.0046	181	c.610 others(200): Show c.6104+3356_6104+3357insGAGGCAGGAGAATGGCGTGAACCTGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAA AAAAAAAAAACAAAAAAACAAAAAAAAAAAAAAACAAAAAAAAAAACTCC ATAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	40/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36182762	T T	TAAAAAAA others(174): Show TAAAAAAACTCCATAAAGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAACAAAAAAAAAAAA AAACAAAAAAACAAAACAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp1 HG02809.hp2 NA19240.hp1	a0007 a0052 a0007 a0052	a0007c0077 a0052c0036 a0007c0077 a0052c0036	a0007c0077t0001 a0052c0036t0001 a0007c0077t0001 a0052c0036t0001	a0007c0077t0001g0140 a0052c0036t0001g0010 a0007c0077t0001g0140 a0052c0036t0001g0010	2	216	0.0093	181	c.610 others(200): Show c.6104+3356_6104+3357insGAGGCAGGAGAATGGCGTGAACCTGG GAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAAAAAACAAAAA AAAAAAAAAACAAAAAAACAAAACAAAAAAAAAACAAAAAAAAAAACTCC ATAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	40/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GAGGGGAG others(174): Show GAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAG GTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACAC TGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTGGTCACACTGAGGGGA GGTGGTCACACTGTGAGGGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	236	0.0042	181	c.351 others(200): Show c.3514-2756_3514-2755insAGGGGAGGTGGTCATACTGTGAGTGA GGAGGTAGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTC ACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTG AGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTAGT CACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHCHD3_chr7_132779870_133087090	132983159	T T	TAAAAATA others(174): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAG CGGGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03654.hp2 HG03669.hp1 others(1): Show HG01361.hp2 HG03654.hp2 HG03669.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	4	310	0.0129	181	c.252 others(198): Show c.252-7874_252-7873insTTTTTTTTTTTTTTTTTTGAGACGGAGT CCCGCTGTTTAGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATT TTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHODL_chr21_18239833_18272370	18251523	T T	TTATTTTA others(174): Show TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATA TTTATTTTATTTATTTATTTTAATATATAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	402	0.0025	181	c.80- others(196): Show c.80-4979_80-4978insATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTT A	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLPX_chr15_65143219_65190342	65145939	A A	ATATATAT others(174): Show ATATATATATATATAAATATATATATAAATATATATATAAATATATATAT AAATATATATATAAATATATATATAAATATATATATAAATATATATATAA ATATATATATAAATATATATAAATATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	190	0.0053	181	c.48 others(192): Show c.4883_*4884insATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATATTTATATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATATATA	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2279		chr15	TogoVar
CNBD1_chr8_86861415_87387859	87136856	T T	TTTATATT others(174): Show TTTATATTAAATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTAAATATAAATATATATATTTATA TTAAATATAAATATATATATTTATATTAAATATAAATATATATATTTATA TTATATATATATTTATATTAAATATAAATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	152	0.0066	181	c.432 others(200): Show c.432-69136_432-69135insTATATTAAATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTA AATATAAATATATATATTTATATTAAATATAAATATATATATTTATATTA AATATAAATATATATATTTATATTATATATATATTTATATTAAATATAAA TATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(174): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAA GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAAAGAAAG AAAAGAAAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0174 a0003c0003t0004g0174	1	268	0.0037	181	c.-46 others(200): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TCCTTCTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL4A2_chr13_110302284_110518209	110481949	G G	GTTGCTGG others(174): Show GTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACATTGGT CGGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCTTCCGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	372	0.0027	181	c.275 others(198): Show c.2759-566_2759-565insTGCTGGAGACACACTGTTCTGTCCTTCC GTTGCTGGAGACACATTGGTCGGTCCTTCCATTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAG ACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCC GTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(174): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCC CCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0317 a0001c0005t0002g0317	1	348	0.0029	181	c.927 others(196): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCC CCCGCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCC C	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588117	G G	GCCCCCGT others(174): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCCCCCCG TGTCACCCGCGTGTCACCCACAGAAACACGGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	348	0.0029	181	c.928 others(196): Show c.928-544_928-543insACAGATACACGGCCCCCGTGTCAGCCACAG ATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCC CCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACC C	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(174): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0073 a0002c0003t0003g0073	1	348	0.0029	181	c.928 others(196): Show c.928-442_928-441insCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC C	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(174): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	324	0.0031	181	c.101 others(198): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(174): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	324	0.0031	181	c.101 others(198): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(174): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	324	0.0031	181	c.101 others(198): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(174): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	324	0.0031	181	c.101 others(198): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(174): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0072 a0002c0009t0001g0072	1	324	0.0031	181	c.101 others(198): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(174): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18968.hp2 NA18939.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0039 a0001c0001t0001g0073	2	324	0.0062	181	c.101 others(198): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(174): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	181	c.101 others(198): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(174): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18954.hp2 HG01981.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0087 a0001c0001t0001g0115	2	324	0.0062	181	c.101 others(198): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(174): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	324	0.0031	181	c.101 others(198): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTCT others(174): Show TTCTTTCTTTCTTTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT TCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGTTCTT TCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTT TCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02083.hp1 HG02083.hp2 others(2): Show HG00544.hp1 HG02083.hp1 HG02083.hp2 HG04115.hp1 NA18990.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0002 a0001c0001t0024 a0005c0012t0002 a0001c0001t0002 a0001c0001t0024 a0005c0012t0002	a0001c0001t0002g0166 a0001c0001t0002g0233 a0001c0001t0002g0271 others(2): Show a0001c0001t0002g0166 a0001c0001t0002g0233 a0001c0001t0002g0271 a0001c0001t0024g0269 a0005c0012t0002g0272	5	424	0.0118	181	c.918 others(196): Show c.918+556_918+557insCTTTCTTTCTTTTTCTCTCTTTCTTTCTTT CTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTT TTTCTTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTTCTTCTTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCC T	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(174): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0015 a0001c0002t0007g0015	1	380	0.0026	181	c.-11 others(192): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATATATATTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(174): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0015 a0001c0002t0007g0015	1	380	0.0026	181	c.-11 others(192): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATATATTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(174): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0011 a0001c0002t0009g0011	1	380	0.0026	181	c.-11 others(192): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATATTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DEPDC1B_chr5_60591912_60705166	60667360	T T	TAAAATGG others(174): Show TAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATATA CAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATAT ACAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATAT ATACAAAAAATGGATATTTTACATATATACAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01168.hp2 others(14): Show HG01070.hp1 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG02145.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0242 others(14): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0005g0244 a0001c0001t0005g0275	17	292	0.0582	181	c.314 others(200): Show c.314+19601_314+19602insTTGTATATATGTAAAATATCCATTTT TTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCATT TTTTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCA TTTTTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCC ATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKB_chr7_14140049_14907751	14211704	T T	TATTTACT others(174): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTATT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTT TGTGATTTTATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	148	0.0068	181	c.212 others(202): Show c.2123-33554_2123-33553insTATCACAAAACATGAGAGTAAATA AAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCAC AAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACA TGAGAGTAAATAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAG AGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DNAH10_chr12_123757301_123940714	123911733	G G	GGGAGGGG others(174): Show GGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGG TCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(21): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02602.hp1 HG03041.hp2 HG03239.hp1 HG03688.hp2 HG03710.hp1 HG04184.hp1 NA18944.hp1 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18977.hp2 NA18979.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0018 a0028 a0036 a0055 a0063 a0065	a0001c0001 a0001c0002 a0001c0041 others(11): Show a0001c0001 a0001c0002 a0001c0041 a0001c0046 a0001c0067 a0002c0029 a0003c0019 a0006c0026 a0018c0017 a0028c0069 a0036c0055 a0055c0049 a0063c0056 a0065c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(11): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0046t0001 a0001c0067t0001 a0002c0029t0001 a0003c0019t0002 a0006c0026t0002 a0018c0017t0001 a0028c0069t0001 a0036c0055t0002 a0055c0049t0001 a0063c0056t0001 a0065c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0064 others(21): Show a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0099 a0001c0002t0002g0072 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0046t0001g0153 a0001c0067t0001g0082 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0006c0026t0002g0079 a0006c0026t0002g0081 a0018c0017t0001g0076 a0018c0017t0001g0101 a0028c0069t0001g0056 a0036c0055t0002g0069 a0055c0049t0001g0078 a0063c0056t0001g0073 a0065c0034t0001g0055	24	170	0.1412	181	c.101 others(202): Show c.10134+1063_10134+1064insAGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCT GTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAJB8_chr3_128457437_128471890	128464755	G G	GCCTTCTT others(174): Show GCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCTTTCCCTTCCCTTCCCTTCCGTTCCCTGCCTTCCT TCCCTCCTCCCTCCCTCCCTTTCCCCTCCTTCCTTCATTTCCTCCTTCCT TCCTTCCTTCCTTCCTCCCTTTCTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 NA18522.hp1 HG02257.hp2 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0060 a0001c0003t0001g0041 a0001c0003t0001g0060	3	458	0.0066	181	c.-86 others(198): Show c.-866+520_-866+521insAAGGAAGGAGAAAGGGAGGAAGGAAGGA AGGAAGGAAGGAGGAAATGAAGGAAGGAGGGGAAAGGGAGGGAGGGAGGA GGGAAGGAAGGCAGGGAACGGAAGGGAAGGGAAGGGAAAGAAGGAGGGAA GGAGGGAGGGAGGAAGGGAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA AGG	DNAJB8	ENSG00000179407.4	transcript	ENST00000319153.4	protein_coding	2/2			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(174): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATCATATATATCATATATATCATATATATATCATATATAT CATATATATCATATATATGATATATATATCAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	212	0.0047	181	c.316 others(200): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCATATATATCATATATATCATATA TATCATATATATATCATATATATCATATATATCATATATATGATATATAT ATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(174): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATGATATATATATCATATATATCATATATATCATATATAT CATATATATCATATATATGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18993.hp2 NA19091.hp2 HG02071.hp2 NA18993.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0076	3	212	0.0142	181	c.316 others(200): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCATATATATGATATATATATCATA TATATCATATATATCATATATATCATATATATCATATATATGATATATAT ATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DPEP1_chr16_89608642_89643433	89618921	T T	TCCCTCCC others(174): Show TCCCTCCCTGCAGCCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	250	0.0040	181	c.-10 others(200): Show c.-107+5215_-107+5216insCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCT GCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619093	G G	GCCCCCCC others(174): Show GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp2 NA18612.hp2 others(1): Show HG02027.hp1 HG02129.hp2 NA18612.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0109 a0001c0001t0001g0119 a0002c0002t0001g0102 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0119 a0002c0002t0001g0102 a0002c0002t0004g0149	4	250	0.0160	181	c.-10 others(200): Show c.-107+5380_-107+5381insCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619093	G G	GCCCCCCC others(174): Show GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTGCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp2 HG02896.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0097 a0001c0001t0001g0099	2	250	0.0080	181	c.-10 others(200): Show c.-107+5380_-107+5381insCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTGCCCTCCCTGCAGCCCCCTGCC CCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619485	C C	CCTGCCCC others(174): Show CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCATGCCCCCTGCTCCCCTCCCTGCAGCTCCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	250	0.0040	181	c.-10 others(200): Show c.-107+5766_-107+5767insCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCTGCTCCCCTCCCTGCAG CTCCA	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar

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