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
CDKN2A_chr9_21962752_21999392	21981002	ACGTGTAT others(133): Show ACGTGTATATATATATATACGTGTATATATATATACGTGTATATATATAT ATACGTGTATATATATATACGTGTATATATATATATACGTGTATATATAT ACGTGTATATATATATATACGTGTATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	404	0.0025	-140	c.194 others(17): Show c.194-9934_194-9795del	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CENPE_chr4_103100811_103203343	103112785	TATATATA others(133): Show TATATATACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATA AGTGTATATATATACTTATAAGTATATAAGTGTACATATATACTTATAAG TATATAAGTGTACATATATACTTATAAGTATATAAGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 NA18612.hp1 others(1): Show HG02717.hp2 HG02886.hp1 NA18612.hp1 NA19010.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0007 a0002c0002 a0011c0016 a0001c0007 a0002c0002 a0011c0016	a0001c0007t0001 a0002c0002t0001 a0011c0016t0001 a0001c0007t0001 a0002c0002t0001 a0011c0016t0001	a0001c0007t0001g0095 a0002c0002t0001g0028 a0002c0002t0001g0051 others(1): Show a0001c0007t0001g0095 a0002c0002t0001g0028 a0002c0002t0001g0051 a0011c0016t0001g0093	4	320	0.0125	-140	c.754 others(19): Show c.7540+1530_7540+1669del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CEP131_chr17_81184596_81227965	81209608	GCGCTCGG others(133): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCG GACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0275 a0007c0010t0001g0275	1	384	0.0026	-140	c.178 others(15): Show c.178-726_178-587del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81209853	GCGCTCGG others(133): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCCGAGAAGCG GACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01106.hp1 others(20): Show HG00323.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02717.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18947.hp2 NA19030.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0019 a0029 a0038 a0041	a0001c0003 a0002c0002 a0007c0010 others(4): Show a0001c0003 a0002c0002 a0007c0010 a0019c0025 a0029c0041 a0038c0053 a0041c0057	a0001c0003t0002 a0002c0002t0002 a0007c0010t0002 others(5): Show a0001c0003t0002 a0002c0002t0002 a0007c0010t0002 a0019c0025t0002 a0019c0025t0008 a0029c0041t0001 a0038c0053t0002 a0041c0057t0001	a0001c0003t0002g0006 a0001c0003t0002g0012 a0001c0003t0002g0046 others(17): Show a0001c0003t0002g0006 a0001c0003t0002g0012 a0001c0003t0002g0046 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0069 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0087 a0002c0002t0002g0051 a0002c0002t0002g0060 a0007c0010t0002g0107 a0019c0025t0002g0071 a0019c0025t0008g0070 a0029c0041t0001g0244 a0038c0053t0002g0032 a0041c0057t0001g0139	23	384	0.0599	-140	c.178 others(15): Show c.178-971_178-832del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CFAP46_chr10_132803392_132947570	132918164	CCCCCTCT others(133): Show CCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGAC GCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGA TGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0003 a0025c0033t0003	a0025c0033t0003g0237 a0025c0033t0003g0237	1	246	0.0041	-140	c.198 others(16): Show c.1986+89_1986+228del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CHFR_chr12_132827356_132892605	132836097	ACTCACAG others(133): Show ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0352 a0001c0001t0072g0352	1	378	0.0027	-140	c.53 others(11): Show c.5317_*5456del	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5317		chr12	TogoVar
CLCN7_chr16_1439935_1480028	1459560	GCAGCACA others(133): Show GCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGCTCAGCACACACTTCG GGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCCCAGGGAAGG GGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGGGGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02572.hp2 others(9): Show HG01891.hp2 HG02109.hp1 HG02572.hp2 HG02630.hp1 HG02896.hp2 HG02976.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18948.hp1 NA18997.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0022	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0015 a0001c0002t0034 a0001c0002t0042 a0001c0007t0002 a0001c0007t0004 a0001c0022t0048	a0001c0001t0001g0278 a0001c0001t0005g0040 a0001c0002t0001g0105 others(9): Show a0001c0001t0001g0278 a0001c0001t0005g0040 a0001c0002t0001g0105 a0001c0002t0015g0268 a0001c0002t0015g0275 a0001c0002t0034g0277 a0001c0002t0042g0269 a0001c0007t0002g0169 a0001c0007t0002g0170 a0001c0007t0002g0171 a0001c0007t0004g0177 a0001c0022t0048g0172	12	404	0.0297	-140	c.595 others(15): Show c.595-513_595-374del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	6/24			chr16	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(133): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATATATATATATATATAT ATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(43): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG03490.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA19005.hp1 NA19058.hp1 NA19065.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0008c0009t0001	a0001c0001t0001g0000 a0001c0001t0005g0000 a0002c0002t0002g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0005g0000 a0002c0002t0002g0000 a0008c0009t0001g0000	46	466	0.0987	-140	c.48 others(11): Show c.4889_*5028del	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
CLSTN2_chr3_139930185_140582397	140419684	TATATATA others(133): Show TATATATACGTATATGAATATGTATATATGTATATATACGTATATACATG TATATACGTATATATACACATATACGTGTATACACGTGTATACACGTATA TACACGTATACGTGTATATACGTGTATATACGTATATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0008 a0002c0002t0033g0008	1	110	0.0091	-140	c.638 others(17): Show c.638-1440_638-1301del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16			chr3	TogoVar
CNN2_chr19_1021608_1044065	1033743	GGGGAGCG others(133): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(95): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18951.hp2 NA18956.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0015 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0002t0004 a0001c0003t0003 a0001c0005t0007 a0001c0013t0001 a0001c0015t0011 a0002c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0025 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0006g0001 a0001c0001t0011g0022 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0192 a0001c0001t0015g0140 a0001c0001t0018g0111 a0001c0001t0018g0116 a0001c0001t0026g0001 a0001c0001t0028g0001 a0001c0001t0029g0136 a0001c0002t0004g0025 a0001c0002t0004g0266 a0001c0003t0003g0112 a0001c0005t0007g0026 a0001c0013t0001g0054 a0001c0015t0011g0060 a0002c0010t0001g0001 a0002c0010t0001g0006	98	390	0.2513	-140	c.390 others(17): Show c.390+1187_390+1326del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034096	GAGCGTGG others(133): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACA CATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02451.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0025 a0001c0001t0022 a0001c0001t0025	a0001c0001t0022g0061 a0001c0001t0025g0056 a0001c0001t0022g0061 a0001c0001t0025g0056	2	390	0.0051	-140	c.390 others(17): Show c.390+1415_390+1554del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034932	GACCGGGA others(133): Show GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	390	0.0026	-140	c.391 others(17): Show c.391-1159_391-1020del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNTRL_chr9_121069955_121182610	121090037	ATTATAGT others(133): Show ATTATAGTTATTACATTATAATACATTATAGTATTACAATCATTACATCA TTATTTCATTATAATTATGAAATGCTATGAAGTAAAATATTATTAAAACA TTATGATTAGAAATAGCCAGCTTTTTTGGTATATTCATGGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(55): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01261.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp2 NA20129.hp2 NA21309.hp1	a0001 a0021 a0022 others(1): Show a0001 a0021 a0022 a0023	a0001c0001 a0021c0030 a0022c0028 others(1): Show a0001c0001 a0021c0030 a0022c0028 a0023c0029	a0001c0001t0001 a0001c0001t0003 a0021c0030t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0021c0030t0001 a0022c0028t0001 a0023c0029t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0194 others(53): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0021c0030t0001g0235 a0022c0028t0001g0212 a0023c0029t0001g0224	58	330	0.1758	-140	c.218 others(14): Show c.218-234_218-95del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	3/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A3_chr2_227159624_227319792	227203130	CATATATG others(133): Show CATATATGTGTATATATGTGTATATATACATATATGTGTATATATGTGTA TATGTGTGTATATATACATATATGTGTATATACACACATATATGTGTATA TATGTGTATATATACATATATGTATATATACATATATGTGT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0010 a0003c0039t0010	a0003c0039t0010g0005 a0003c0039t0010g0005	1	344	0.0029	-140	c.88- others(17): Show c.88-34821_88-34682del	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRLF2_chrX_1185490_1217649	1211493	ATAAGTGG others(133): Show ATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGATGGATGTATTGGT GGATGGATGGGTGGATGGATGGATGGATGGATAAGTGGATAAAAGTGTGG GTGAATGCATGGATAGATGGATGTATTGGTGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02451.hp1 HG02615.hp1	a0002 a0002	a0002c0005 a0002c0015 a0002c0005 a0002c0015	a0002c0005t0002 a0002c0015t0002 a0002c0005t0002 a0002c0015t0002	a0002c0005t0002g0013 a0002c0015t0002g0012 a0002c0005t0002g0013 a0002c0015t0002g0012	2	167	0.0120	-140	c.79+ others(14): Show c.79+923_79+1062del	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240923940	TCCCCACA others(133): Show TCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0099 a0007c0006t0001g0099	1	350	0.0029	-140	c.488 others(17): Show c.488+1312_488+1451del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79745246	ATGCGCGT others(133): Show ATGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTC CCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCC CGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp1 HG02647.hp1 others(7): Show HG00735.hp1 HG02071.hp1 HG02647.hp1 HG02965.hp2 HG03195.hp1 HG03471.hp2 NA18612.hp1 NA18969.hp2 NA18977.hp2 NA19058.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0002 a0004c0004 a0005c0015 others(1): Show a0002c0002 a0004c0004 a0005c0015 a0006c0010	a0002c0002t0001 a0004c0004t0001 a0005c0015t0005 others(1): Show a0002c0002t0001 a0004c0004t0001 a0005c0015t0005 a0006c0010t0001	a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0242 others(7): Show a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0242 a0002c0002t0001g0257 a0002c0002t0001g0267 a0002c0002t0001g0329 a0004c0004t0001g0322 a0004c0004t0001g0323 a0005c0015t0005g0369 a0006c0010t0001g0259	10	378	0.0265	-140	c.274 others(19): Show c.2748-8390_2748-8251del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745539	CCCCGCGT others(133): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02109.hp1 HG02886.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0030 a0001c0001 a0010c0030	a0001c0001t0001 a0010c0030t0001 a0001c0001t0001 a0010c0030t0001	a0001c0001t0001g0084 a0010c0030t0001g0082 a0001c0001t0001g0084 a0010c0030t0001g0082	2	378	0.0053	-140	c.274 others(19): Show c.2748-8085_2748-7946del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745727	CGTTCTGT others(133): Show CGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGT CCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0308 a0004c0004t0001g0308	1	378	0.0027	-140	c.274 others(19): Show c.2748-7917_2748-7778del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745903	CCCCGCGT others(133): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp2 others(4): Show HG00280.hp1 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG02559.hp1 NA18962.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0003c0005t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0004g0184 others(4): Show a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0004g0184 a0002c0002t0001g0247 a0002c0002t0001g0252 a0003c0005t0002g0129 a0003c0005t0002g0130	7	378	0.0185	-140	c.274 others(19): Show c.2748-7693_2748-7554del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15932009	GGAATGAG others(133): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0043 a0001c0011t0043	a0001c0011t0043g0301 a0001c0011t0043g0301	1	386	0.0026	-140	c.198 others(17): Show c.198+2062_198+2201del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932303	AGGAGAGG others(133): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0134 a0001c0002t0134	a0001c0002t0134g0291 a0001c0002t0134g0291	1	386	0.0026	-140	c.198 others(17): Show c.198+1768_198+1907del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932409	GGAATGAG others(133): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTG AGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0304	1	386	0.0026	-140	c.198 others(17): Show c.198+1662_198+1801del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933569	GGAATGAG others(133): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0194 a0002c0001t0006g0194	1	386	0.0026	-140	c.198 others(15): Show c.198+502_198+641del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760445	ATATATAT others(133): Show ATATATATATACATACATATATATATGTATATATATGTATGTATATATAT ATACATATATATGTATATATATGTATATATATATATACATACATATATAT GTATATATATATGTATATATATATACACATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(20): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01168.hp1 HG01257.hp1 HG01261.hp2 HG02257.hp1 HG02280.hp1 HG02698.hp1 HG02970.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03834.hp2 NA18966.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0260 others(20): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0260 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0369 a0001c0001t0005g0043 a0001c0001t0006g0327 a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0342 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0016g0348	23	378	0.0609	-140	c.22+ others(17): Show c.22+21617_22+21756del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051865	CCGGGAGA others(133): Show CCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGG GCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGC GGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA18939.hp1 NA18945.hp1 others(1): Show HG02135.hp1 NA18939.hp1 NA18945.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0073 a0001c0001t0003 a0001c0001t0073	a0001c0001t0003g0332 a0001c0001t0003g0345 a0001c0001t0003g0347 others(1): Show a0001c0001t0003g0332 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0073g0346	4	408	0.0098	-140	c.-75 others(9): Show c.-759_-620del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		234		chr17	TogoVar
DCDC2C_chr2_3698575_3853008	3786348	CGTGTGTC others(133): Show CGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTG TGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCG GTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00642.hp1 others(72): Show HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG01099.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp2 NA19081.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0004c0007 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0022 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0005t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0002 a0002c0004t0003 a0004c0007t0002 a0005c0014t0013	a0001c0001t0001g0020 a0001c0001t0001g0111 a0001c0001t0001g0112 others(72): Show a0001c0001t0001g0020 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0249 a0001c0001t0001g0310 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0101 a0001c0001t0002g0157 a0001c0001t0002g0297 a0001c0001t0003g0004 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0003g0165 a0001c0001t0003g0317 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0061 a0001c0001t0004g0316 a0001c0001t0004g0321 a0001c0001t0005g0288 a0001c0001t0006g0051 a0001c0001t0006g0251 a0001c0001t0012g0269 a0001c0001t0022g0073 a0001c0001t0026g0050 a0001c0002t0001g0006 a0001c0002t0001g0123 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0232 a0001c0002t0001g0306 a0001c0002t0002g0003 a0001c0002t0002g0071 a0001c0002t0002g0096 a0001c0002t0003g0005 a0001c0002t0003g0043 a0001c0002t0003g0063 a0001c0002t0003g0097 a0001c0002t0003g0103 a0001c0002t0003g0107 a0001c0002t0003g0125 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0139 a0001c0002t0003g0155 a0001c0002t0004g0052 a0001c0002t0004g0279 a0001c0002t0004g0283 a0001c0002t0006g0284 a0001c0005t0001g0248 a0002c0003t0001g0213 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0239 a0002c0003t0003g0208 a0002c0003t0004g0008 a0002c0004t0002g0182 a0002c0004t0002g0184 a0002c0004t0002g0188 a0002c0004t0003g0183 a0002c0004t0003g0199 a0002c0004t0003g0207 a0002c0004t0003g0318 a0004c0007t0002g0028 a0005c0014t0013g0241	75	324	0.2315	-140	c.106 others(19): Show c.1065+1486_1065+1625del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX11_chr12_31068860_31109799	31098490	CCAGCTGT others(133): Show CCAGCTGTGCTGGATTCCAGTTACACAGATATATAGCATTTCATGTAGCT GCTTCTCTCTTGTTAGGTGTGCAAGCTATTTGCAGTTTTCTGTTTTGAGC ATGACTGTGATAAATATAACCGCATTTCTGCACAGTGGTGA	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	418	0.0024	-140	c.187 others(17): Show c.1875+495_1875+634del	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX51_chr12_132131594_132149319	132134650	CCCCGAGT others(133): Show CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-140	c.44 others(11): Show c.4482_*4621del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1943		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134673	GCTCCTCC others(133): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18940.hp1 NA18959.hp2 others(1): Show HG02602.hp2 NA18940.hp1 NA18959.hp2 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0009c0013 a0002c0005 a0009c0013	a0002c0005t0005 a0009c0013t0005 a0002c0005t0005 a0009c0013t0005	a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087 a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087	4	334	0.0120	-140	c.44 others(11): Show c.4459_*4598del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1920		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136200	CCCGAGTG others(133): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02735.hp1 NA18986.hp1 others(1): Show HG00280.hp1 HG02735.hp1 NA18986.hp1 NA19070.hp1	a0001 a0005 a0001 a0005	a0001c0020 a0005c0007 a0001c0020 a0005c0007	a0001c0020t0029 a0005c0007t0011 a0005c0007t0022 a0001c0020t0029 a0005c0007t0011 a0005c0007t0022	a0001c0020t0029g0070 a0005c0007t0011g0019 a0005c0007t0011g0084 others(1): Show a0001c0020t0029g0070 a0005c0007t0011g0019 a0005c0007t0011g0084 a0005c0007t0022g0085	4	334	0.0120	-140	c.29 others(11): Show c.2932_*3071del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		393		chr12	TogoVar
DEAF1_chr11_639233_700222	647806	AGTGCTGG others(133): Show AGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGG TGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACC CAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(85): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18951.hp1 NA18959.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18995.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19064.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0004c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001 a0004c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(85): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0200 a0001c0001t0001g0303 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0341 a0001c0003t0001g0032 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0180 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0002c0005t0001g0004 a0002c0005t0001g0005 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0263 a0002c0005t0001g0264 a0004c0012t0001g0270	88	345	0.2551	-140	c.159 others(19): Show c.1594-3292_1594-3153del	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DECR2_chr16_396885_417482	408030	CCTGTCTC others(133): Show CCTGTCTCCGGGCCTCTGTCTCCGGCCCTCTGTCTCCGGGCCCCTGTCTC CGGGCCCCTGTCTCCAGCCCCCTGTCTCCGGACCTCTGTCTCCGGGCCCC TGTCTCCGGGCCTCTGTCTCCGGCCCCCTGTCTCCGGGCCT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19067.hp1 NA19088.hp2 NA19056.hp1 NA19067.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0033 a0001c0005t0001g0092 a0001c0001t0001g0033 a0001c0005t0001g0092	3	367	0.0082	-140	c.337 others(15): Show c.337+498_337+637del	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB1_chr8_6865592_6882936	6882789	AGCTGGAT others(133): Show AGCTGGATTTCTGACCCTGGATGGAAGGCGCTGGATTTCTGACCCTGGAT GGAAGGCGCTGGATTTCTGGCCCTGGATGGAAGGAGCTGGATTTCTGGTC CTGGATGGAAGGAGCTGGATTTCTGACCCTGGATGGAAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	478	0.0021	-140	c.-50 others(11): Show c.-5072_-4933del	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding		4854		chr8	TogoVar
DLC1_chr8_13078361_13519851	13453399	TATGTGTA others(133): Show TATGTGTATATATATATATATATATGTGTATATATATATGTATATATATA CATATATATATGTATATATATACATATATATGTATATATATACATATATA TATGTATATATATATACATATATATATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0020 a0001c0011t0020	a0001c0011t0020g0202 a0001c0011t0020g0202	1	212	0.0047	-140	c.102 others(21): Show c.1023+45510_1023+45649del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103430	TTTGGTTA others(133): Show TTTGGTTAACGGTGATGACTGGCGGGGCCTTGGTTAACGTTGATGACTGG CGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGAT GACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18906.hp2 HG02895.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0003t0001 a0001c0002t0022 a0001c0003t0001	a0001c0002t0022g0034 a0001c0003t0001g0027 a0001c0002t0022g0034 a0001c0003t0001g0027	2	40	0.0500	-140	c.74- others(19): Show c.74-155414_74-155275del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103465	AACGTTGA others(133): Show AACGTTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCC TTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGC GGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-140	c.74- others(19): Show c.74-155382_74-155243del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103469	TTGATGAC others(133): Show TTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGG TTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGG CCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG02071.hp1 others(5): Show HG00639.hp2 HG01361.hp2 HG02071.hp1 HG02074.hp2 HG02895.hp2 HG02922.hp1 HG03492.hp2 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0010 a0002c0001 others(3): Show a0001c0002 a0001c0010 a0002c0001 a0002c0004 a0002c0007 a0003c0005	a0001c0002t0002 a0001c0002t0009 a0001c0002t0023 others(5): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0023 a0001c0010t0025 a0002c0001t0003 a0002c0004t0026 a0002c0007t0008 a0003c0005t0002	a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0023g0005 others(5): Show a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0023g0005 a0001c0010t0025g0012 a0002c0001t0003g0022 a0002c0004t0026g0016 a0002c0007t0008g0040 a0003c0005t0002g0031	8	40	0.2000	-140	c.74- others(19): Show c.74-155174_74-155035del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1316409	GTGTGCGA others(133): Show GTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGAAACTCG GCAGCTTTTAAAAATAGAGCGTGTGCGAGTGCAGCGTCTCTCCAACAGTG GTCTACACTCGAGACACTCGGCAGCGTTTAAAAATAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	-140	c.106 others(19): Show c.106+57570_106+57709del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	782502	GTCCCGTC others(133): Show GTCCCGTCACGCGGCGTCAGAAACTCGCATCTTCCTGGTGTGGCCGCCTC CCGTCACGCGGCGTCAGAAACTCGGATCTTCCCGGCGTGGCCGCGTCCCG TTACGCAGCGTCAGAAACTCGATATTCCTGGCGTGGCCGCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 HG03130.hp1 HG02723.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317	3	378	0.0079	-140	c.243 others(19): Show c.2431+2370_2431+2509del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH9_chr17_11593470_11974748	11694638	CTTGCTTT others(133): Show CTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCT CGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCT TTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(30): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00621.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01978.hp1 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02165.hp2 HG02451.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG03239.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18950.hp2 NA18964.hp2 NA18968.hp2 NA19012.hp1 NA19085.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0004 others(16): Show a0001 a0003 a0004 a0005 a0006 a0011 a0022 a0031 a0035 a0038 a0039 a0040 a0041 a0044 a0048 a0049 a0057 a0058 a0077	a0001c0001 a0001c0012 a0001c0014 others(30): Show a0001c0001 a0001c0012 a0001c0014 a0001c0099 a0001c0100 a0001c0117 a0003c0006 a0003c0007 a0003c0013 a0003c0048 a0003c0104 a0003c0105 a0004c0042 a0004c0043 a0004c0120 a0005c0004 a0006c0044 a0006c0047 a0006c0103 a0011c0035 a0022c0028 a0031c0066 a0035c0040 a0038c0101 a0039c0102 a0040c0045 a0041c0049 a0044c0041 a0048c0052 a0049c0098 a0057c0060 a0058c0061 a0077c0144	a0001c0001t0001 a0001c0012t0001 a0001c0014t0001 others(30): Show a0001c0001t0001 a0001c0012t0001 a0001c0014t0001 a0001c0099t0001 a0001c0100t0001 a0001c0117t0001 a0003c0006t0001 a0003c0007t0001 a0003c0013t0001 a0003c0048t0001 a0003c0104t0001 a0003c0105t0001 a0004c0042t0001 a0004c0043t0001 a0004c0120t0001 a0005c0004t0001 a0006c0044t0001 a0006c0047t0001 a0006c0103t0001 a0011c0035t0001 a0022c0028t0001 a0031c0066t0001 a0035c0040t0001 a0038c0101t0001 a0039c0102t0001 a0040c0045t0001 a0041c0049t0001 a0044c0041t0001 a0048c0052t0001 a0049c0098t0001 a0057c0060t0001 a0058c0061t0001 a0077c0144t0001	a0001c0001t0001g0124 a0001c0012t0001g0035 a0001c0014t0001g0143 others(30): Show a0001c0001t0001g0124 a0001c0012t0001g0035 a0001c0014t0001g0143 a0001c0099t0001g0095 a0001c0100t0001g0056 a0001c0117t0001g0027 a0003c0006t0001g0042 a0003c0007t0001g0151 a0003c0013t0001g0057 a0003c0048t0001g0130 a0003c0104t0001g0107 a0003c0105t0001g0048 a0004c0042t0001g0040 a0004c0043t0001g0140 a0004c0120t0001g0178 a0005c0004t0001g0092 a0006c0044t0001g0167 a0006c0047t0001g0068 a0006c0103t0001g0134 a0011c0035t0001g0078 a0022c0028t0001g0086 a0031c0066t0001g0158 a0035c0040t0001g0123 a0038c0101t0001g0110 a0039c0102t0001g0083 a0040c0045t0001g0168 a0041c0049t0001g0159 a0044c0041t0001g0041 a0048c0052t0001g0141 a0049c0098t0001g0053 a0057c0060t0001g0064 a0058c0061t0001g0111 a0077c0144t0001g0065	33	178	0.1854	-140	c.487 others(17): Show c.4872+193_4872+332del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIPR1_chr2_3183970_3382818	3352103	GGACACCT others(133): Show GGACACCTTTGATCAGCATATCCATGCTACAGAAGCGACCTGCCCCTGAG CCACCCACACTGTCTGTTCCGGACACCTTTGATCAGCATATCCATGCTAC AGAAGCGACCTGCCCCTGAGCCATCCATACTGTCTGTTCCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0002g0010 a0001c0005t0001g0104	2	250	0.0080	-140	c.126 others(17): Show c.126+2307_126+2446del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8			chr2	TogoVar
ESYT2_chr7_158725997_158834509	158803880	GGAGAAGG others(133): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(131): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0002c0002 a0005c0012 a0007c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0043 a0001c0006t0001 a0001c0007t0001 a0001c0007t0036 a0001c0011t0001 a0002c0002t0042 a0005c0012t0001 a0007c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(129): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0013g0114 a0001c0001t0024g0112 a0001c0001t0027g0064 a0001c0001t0028g0095 a0001c0001t0029g0094 a0001c0001t0031g0019 a0001c0001t0043g0129 a0001c0006t0001g0138 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0036g0032 a0001c0011t0001g0139 a0001c0011t0001g0140 a0002c0002t0042g0027 a0005c0012t0001g0005 a0005c0012t0001g0006 a0007c0025t0001g0041	134	370	0.3622	-140	c.331 others(17): Show c.331-4948_331-4809del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158803912	CGCCGAGA others(133): Show CGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGA GGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACC CAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03654.hp2 NA18522.hp2 others(1): Show HG02723.hp2 HG03654.hp2 NA18522.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0024 a0001c0001 a0001c0011 a0001c0024	a0001c0001t0001 a0001c0011t0001 a0001c0024t0001 a0001c0001t0001 a0001c0011t0001 a0001c0024t0001	a0001c0001t0001g0055 a0001c0001t0001g0172 a0001c0011t0001g0102 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0172 a0001c0011t0001g0102 a0001c0024t0001g0326	4	370	0.0108	-140	c.331 others(17): Show c.331-4980_331-4841del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158803949	TCGAGAAG others(133): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACTGTTGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	370	0.0027	-140	c.331 others(17): Show c.331-5017_331-4878del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72401506	TATATATA others(133): Show TATATATATACATATATACATATATATATATATATATATGTGTATATATA TATATATATACATATATATATATATACATATATATATATATATATATGTG TATATATATATATATACATATATATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	104	0.0096	-140	c.198 others(21): Show c.1981-21776_1981-21637del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848876	ATATATAT others(133): Show ATATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATATTTATATATATTTATATATATATTTATATATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp2 HG02622.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0018 a0001c0001t0001 a0005c0010t0018	a0001c0001t0001g0121 a0005c0010t0018g0280 a0001c0001t0001g0121 a0005c0010t0018g0280	2	400	0.0050	-140	c.183 others(17): Show c.183+4843_183+4982del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FBXO25_chr8_401958_482967	402605	CCCCCCAG others(133): Show CCCCCCAGACATGAGTTTACCTGTATAGCAAACCTGTACATGTAGGGTGA TGAAATAATCTGTACAACAAACCCCCAGACATGAGTTTACCTGTATAGCA AACCTGTACATGTAGGGTGATGAAATAATCTGTACAACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01433.hp2 others(16): Show HG01257.hp2 HG01258.hp2 HG01433.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 NA19058.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0009 a0003c0003t0020 a0003c0003t0034 others(9): Show a0001c0001t0009 a0003c0003t0020 a0003c0003t0034 a0003c0003t0036 a0003c0003t0046 a0003c0003t0047 a0003c0003t0058 a0003c0003t0062 a0003c0003t0064 a0003c0003t0129 a0003c0003t0133 a0003c0003t0135	a0001c0001t0009g0307 a0003c0003t0020g0036 a0003c0003t0020g0342 others(13): Show a0001c0001t0009g0307 a0003c0003t0020g0036 a0003c0003t0020g0342 a0003c0003t0020g0351 a0003c0003t0034g0301 a0003c0003t0034g0303 a0003c0003t0036g0032 a0003c0003t0046g0033 a0003c0003t0047g0347 a0003c0003t0047g0349 a0003c0003t0058g0305 a0003c0003t0062g0302 a0003c0003t0064g0300 a0003c0003t0129g0348 a0003c0003t0133g0299 a0003c0003t0135g0304	19	412	0.0461	-140	c.-44 others(11): Show c.-4468_-4329del	FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding		4352		chr8	TogoVar
FCHO2_chr5_72951041_73095522	73016367	TGTTTAAA others(133): Show TGTTTAAATATTAAAAAAGATTTTAAATTGTTTAAATATTAAAAAAGATT TTAAATTGTTTAAATATTAAAAAAGATTTTAAATTGTTTAAATATTAAAA AAGATTTTAAATTGTTTAAATATTAAAAAAGATTTTAAATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	286	0.0035	-140	c.700 others(15): Show c.700-705_700-566del	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FCRL1_chr1_157789403_157825120	157800804	CACTGACT others(133): Show CACTGACTTTAGTACTGCGATATAGTCAGGATAGCTGGAACTGCTAACAG TATTTCTCTTCTGTGGCAGATTATGTTAAATAGTTACATTCGTTTGTTTG TTTGTTTGAGACAGAGTCTCACTCTGTCACCAGGCTAGAGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	406	0.0025	-140	c.100 others(17): Show c.1003+517_1003+656del	FCRL1	ENSG00000163534.15	transcript	ENST00000368176.8	protein_coding	6/10			chr1	TogoVar

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