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
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(307): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0027 a0001c0013t0001g0027	1	362	0.0028	314	c.-74 others(331): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP12_chr19_53788741_53829314	53794571	C C	CGGCCTCC others(307): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCA TAATTTTTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGTG GGGTAGTGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGTG ATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGACTACAGAGTAGCTGGGA CTATAGGTGCGTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGCAGAG ACAGGGATTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGG TGATCTGCTCATCTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18944.hp2 NA18981.hp2 others(1): Show HG02129.hp1 NA18944.hp2 NA18981.hp2 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0004 a0001c0003t0006	a0001c0003t0004g0077 a0001c0003t0004g0139 a0001c0003t0004g0140 others(1): Show a0001c0003t0004g0077 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0006g0270	4	416	0.0096	314	c.309 others(331): Show c.3099-436_3099-435insAAGATGAGCAGATCACCTGAGGTCAGGA GTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTAAAAAT ACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCTACTCT GTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTAGGACATGG GACGTGGAGGTTGCAGTGAGCCGAGATCACACTACCCCACTCCAGCCTGG GTGACAGCAAGACTCAGTATATAAAAAAAAAAAATTATGGCCGGGCATGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53794571	C C	CGGCCTCC others(307): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCA TAATTTTTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGTG GGGTAGTGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGTG ATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGACTACAGAGTAGCTGGGA CTATAGGTGCGTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGCAGAG ACAGGGATTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTGAAG CAATCTGCTCATCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0013 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0016 a0001c0022 a0001c0023 a0001c0031 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0038 a0003c0007 a0005c0011 a0006c0012 a0008c0018 a0009c0020 a0011c0014 a0013c0030 a0014c0019 a0018c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0011 a0001c0015t0001 a0001c0015t0013 a0001c0016t0002 a0001c0022t0001 a0001c0023t0002 a0001c0031t0005 a0002c0004t0002 a0002c0004t0005 a0002c0005t0002 a0002c0005t0005 a0002c0008t0002 a0002c0008t0005 a0002c0009t0002 a0002c0038t0002 a0003c0007t0003 a0005c0011t0001 a0005c0011t0003 a0006c0012t0002 a0006c0012t0008 a0008c0018t0002 a0009c0020t0003 a0011c0014t0004 a0013c0030t0001 a0014c0019t0003 a0018c0036t0002	a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0268 others(183): Show a0001c0001t0001g0242 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0355 a0001c0001t0001g0397 a0001c0001t0002g0133 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0108 a0001c0001t0006g0378 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0398 a0001c0002t0001g0402 a0001c0002t0001g0403 a0001c0002t0001g0405 a0001c0002t0001g0407 a0001c0002t0001g0409 a0001c0002t0002g0054 a0001c0002t0002g0115 a0001c0002t0002g0146 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0038 a0001c0002t0003g0052 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0084 a0001c0002t0003g0089 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0136 a0001c0002t0006g0226 a0001c0002t0008g0123 a0001c0003t0001g0003 a0001c0003t0001g0252 a0001c0003t0001g0298 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0354 a0001c0003t0001g0395 a0001c0003t0001g0396 a0001c0003t0001g0400 a0001c0003t0002g0050 a0001c0003t0002g0118 a0001c0003t0002g0121 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0134 a0001c0003t0003g0027 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0039 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0063 a0001c0003t0003g0065 a0001c0003t0003g0100 a0001c0003t0003g0145 a0001c0003t0004g0055 a0001c0003t0004g0064 a0001c0003t0004g0068 a0001c0003t0004g0075 a0001c0003t0004g0076 a0001c0003t0004g0078 a0001c0003t0004g0081 a0001c0003t0004g0083 a0001c0003t0004g0085 a0001c0003t0004g0086 a0001c0003t0004g0092 a0001c0003t0004g0107 a0001c0003t0004g0112 a0001c0003t0004g0142 a0001c0003t0004g0143 a0001c0003t0004g0144 a0001c0003t0005g0051 a0001c0003t0005g0113 a0001c0003t0005g0114 a0001c0003t0005g0116 a0001c0003t0005g0117 a0001c0003t0005g0119 a0001c0003t0005g0120 a0001c0003t0005g0122 a0001c0003t0005g0124 a0001c0003t0005g0125 a0001c0003t0005g0129 a0001c0003t0005g0131 a0001c0003t0005g0132 a0001c0003t0006g0255 a0001c0003t0006g0311 a0001c0003t0011g0141 a0001c0015t0001g0308 a0001c0015t0013g0281 a0001c0016t0002g0046 a0001c0016t0002g0047 a0001c0022t0001g0353 a0001c0023t0002g0053 a0001c0031t0005g0008 a0002c0004t0002g0149 a0002c0004t0002g0165 a0002c0004t0002g0166 a0002c0004t0002g0168 a0002c0004t0002g0171 a0002c0004t0002g0173 a0002c0004t0002g0190 a0002c0004t0002g0191 a0002c0004t0002g0196 a0002c0004t0002g0198 a0002c0004t0002g0205 a0002c0004t0002g0208 a0002c0004t0002g0212 a0002c0004t0002g0215 a0002c0004t0002g0223 a0002c0004t0005g0193 a0002c0005t0002g0147 a0002c0005t0002g0148 a0002c0005t0002g0162 a0002c0005t0002g0177 a0002c0005t0002g0178 a0002c0005t0002g0195 a0002c0005t0002g0203 a0002c0005t0002g0214 a0002c0005t0002g0217 a0002c0005t0002g0218 a0002c0005t0002g0220 a0002c0005t0002g0221 a0002c0005t0005g0172 a0002c0005t0005g0210 a0002c0008t0002g0187 a0002c0008t0002g0204 a0002c0008t0002g0206 a0002c0008t0002g0211 a0002c0008t0005g0150 a0002c0009t0002g0153 a0002c0009t0002g0154 a0002c0009t0002g0155 a0002c0038t0002g0207 a0003c0007t0003g0020 a0003c0007t0003g0022 a0003c0007t0003g0023 a0003c0007t0003g0024 a0003c0007t0003g0025 a0003c0007t0003g0026 a0003c0007t0003g0138 a0005c0011t0001g0388 a0005c0011t0003g0105 a0005c0011t0003g0137 a0006c0012t0002g0128 a0006c0012t0002g0135 a0006c0012t0008g0130 a0008c0018t0002g0048 a0008c0018t0002g0049 a0009c0020t0003g0017 a0011c0014t0004g0040 a0013c0030t0001g0236 a0014c0019t0003g0006 a0018c0036t0002g0219	187	416	0.4495	314	c.309 others(331): Show c.3099-436_3099-435insAAGATGAGCAGATTGCTTCAGGTCAGGA GTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTAAAAAT ACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCTACTCT GTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTAGGACATGG GACGTGGAGGTTGCAGTGAGCCGAGATCACACTACCCCACTCCAGCCTGG GTGACAGCAAGACTCAGTATATAAAAAAAAAAAATTATGGCCGGGCATGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53794571	C C	CGGCCTCC others(307): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCA TAATTTTTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGTG GGGTAGTGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGTG ATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGACTACAGAGTAGCTGGGA CTATAGGTGCGTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGCAGAG ACAGGGATTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTGAAG CTATCTGCTCATCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02615.hp2 others(3): Show HG02280.hp2 HG02615.hp1 HG02615.hp2 HG03139.hp2 NA18906.hp1 NA19043.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0017 a0002c0005 a0002c0035 others(2): Show a0001c0017 a0002c0005 a0002c0035 a0010c0033 a0010c0037	a0001c0017t0001 a0002c0005t0002 a0002c0035t0002 others(2): Show a0001c0017t0001 a0002c0005t0002 a0002c0035t0002 a0010c0033t0002 a0010c0037t0002	a0001c0017t0001g0404 a0001c0017t0001g0410 a0002c0005t0002g0158 others(3): Show a0001c0017t0001g0404 a0001c0017t0001g0410 a0002c0005t0002g0158 a0002c0035t0002g0169 a0010c0033t0002g0157 a0010c0037t0002g0152	6	416	0.0144	314	c.309 others(331): Show c.3099-436_3099-435insAAGATGAGCAGATAGCTTCAGGTCAGGA GTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTAAAAAT ACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCTACTCT GTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTAGGACATGG GACGTGGAGGTTGCAGTGAGCCGAGATCACACTACCCCACTCCAGCCTGG GTGACAGCAAGACTCAGTATATAAAAAAAAAAAATTATGGCCGGGCATGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53794571	C C	CGGCCTCC others(307): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCA TAATTTTTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGTG GGGTAGTGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGTG ATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGACTACAGAGTAGCTGGGA CTATAGGTGCGTGCTACCATGCCCAGCTAATTTTTGTATTTTTAGCAGAG ACAGGGATTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTGAAG CAATCTGCTCATCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20805.hp1 HG00733.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0356 a0001c0003t0001g0380 a0001c0003t0001g0356 a0001c0003t0001g0380	2	416	0.0048	314	c.309 others(331): Show c.3099-436_3099-435insAAGATGAGCAGATTGCTTCAGGTCAGGA GTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTAAAAAT ACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCTACTCT GTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACTAGGACATGG GACGTGGAGGTTGCAGTGAGCCGAGATCACACTACCCCACTCCAGCCTGG GTGACAGCAAGACTCAGTATATAAAAAAAAAAAATTATGGCCGGGCATGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCC	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9			chr19	TogoVar
NOCT_chr4_139010781_139050939	139029001	G G	GCTAATTT others(307): Show GCTAATTTTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0210 a0001c0001t0026g0210	1	384	0.0026	314	c.190 others(333): Show c.190+12847_190+12848insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTAATTTTTGTATTTTT	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOD2_chr16_50688606_50738075	50726245	G G	GCCAAAAT others(307): Show GCCAAAATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02895.hp2 others(4): Show HG01891.hp2 HG02717.hp1 HG02895.hp2 HG03130.hp1 HG03453.hp2 HG06807.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0182 a0004c0007t0002g0071 a0004c0007t0002g0072 others(4): Show a0001c0001t0002g0182 a0004c0007t0002g0071 a0004c0007t0002g0072 a0004c0007t0002g0073 a0004c0007t0002g0110 a0004c0007t0002g0111 a0004c0007t0002g0183	7	312	0.0224	314	c.288 others(331): Show c.2885+684_2885+685insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCAAAATTCTT	NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162110292	A A	ACCAGCCA others(307): Show ACCAGCCAAATAACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02080.hp2 others(1): Show HG00609.hp1 HG00673.hp1 HG02080.hp2 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 others(1): Show a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0004t0003g0167	4	182	0.0220	314	c.105 others(333): Show c.105+40027_105+40028insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGCCAAATAACTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(307): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0180	1	324	0.0031	314	c.140 others(331): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPAS3_chr14_32933879_33809173	33586234	A A	ATCAGATG others(307): Show ATCAGATGTTTTTTTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0047 a0002c0005t0047	a0002c0005t0047g0051 a0002c0005t0047g0051	1	92	0.0109	314	c.558 others(333): Show c.558+26035_558+26036insTTTGTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGTCAGATGTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33586234	A A	ATCAGATG others(307): Show ATCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0057 a0001c0001t0027g0057	1	92	0.0109	314	c.558 others(333): Show c.558+26035_558+26036insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGTCAGATGTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(307): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTC TCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02630.hp2 HG02647.hp1 others(2): Show HG01069.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0055 a0001c0001t0023 a0001c0001t0024 a0001c0001t0055	a0001c0001t0023g0009 a0001c0001t0023g0231 a0001c0001t0024g0235 others(1): Show a0001c0001t0023g0009 a0001c0001t0023g0231 a0001c0001t0024g0235 a0001c0001t0055g0059	5	326	0.0153	314	c.433 others(331): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGA GGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGAGGAGGGGAGAG GAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(307): Show TGTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCACCC TCCCCTCTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTCCCCCTTC CCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0300 a0001c0001t0111g0300	1	326	0.0031	314	c.433 others(331): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGGAGGGG GAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGTGGGAGGGGA GGGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(307): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0193 a0001c0001t0081g0193	1	326	0.0031	314	c.433 others(331): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(307): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp1 NA18950.hp1 others(3): Show HG02027.hp2 HG02132.hp1 NA18950.hp1 NA18980.hp1 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0080	a0001c0001t0008g0007 a0001c0001t0009g0206 a0001c0001t0009g0211 others(2): Show a0001c0001t0008g0007 a0001c0001t0009g0206 a0001c0001t0009g0211 a0001c0001t0010g0204 a0001c0001t0080g0197	6	326	0.0184	314	c.433 others(331): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(307): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTTCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0212 a0001c0001t0010g0212	1	326	0.0031	314	c.433 others(331): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGAAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(307): Show ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTT ATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAATATATTT TTATATATATTTTATGTACGTAAAATATATTTATATATATATTTTATGTA CGTAAAATATATTTATATATATATTTTATGTATATTTTATGTATATAAAA TATATTTTATGTATATTTTATGTATATAAAATATATTTTATGTATATTTT ATGTATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	420	0.0048	314	c.360 others(329): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTATGT ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTT ATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAAATATATT TATATATATATTTTATGTACGTAAAATATATTTATATATATATTTTATGT ATATTTTATGTATATAAAATATATTTTATGTATATTTTATGTATATAAAA TATATTTTATGTATATTTTATGTATATAAAATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(307): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0164 a0004c0004t0009g0164	1	360	0.0028	314	c.-30 others(325): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(307): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	242	0.0041	314	c.361 others(331): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(307): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0004 a0001c0001t0019g0004	1	242	0.0041	314	c.361 others(331): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(307): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG01928.hp2 others(4): Show HG01192.hp2 HG01891.hp1 HG01928.hp2 HG02132.hp2 HG02486.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0029 a0001c0001t0033	a0001c0001t0001g0063 a0001c0001t0001g0195 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0021g0019 a0001c0001t0029g0134 a0001c0001t0033g0241	7	242	0.0289	314	c.361 others(331): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(307): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACCAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	242	0.0041	314	c.361 others(331): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(307): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	242	0.0041	314	c.361 others(331): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(307): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0150 a0004c0008t0002g0150	1	242	0.0041	314	c.361 others(331): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(307): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	296	0.0034	314	c.-20 others(323): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OPCML_chr11_132409981_133537501	133451680	T T	TAAAAATA others(307): Show TAAAAATACAAAAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03453.hp1 others(1): Show HG02965.hp1 HG02965.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0001c0001t0032	a0001c0001t0006g0006 a0001c0001t0010g0066 a0001c0001t0025g0054 others(1): Show a0001c0001t0006g0006 a0001c0001t0010g0066 a0001c0001t0025g0054 a0001c0001t0032g0065	4	68	0.0588	314	c.61+ others(331): Show c.61+80583_61+80584insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGAATTTTTGTATTTTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(307): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG03130.hp2 HG02257.hp1 HG02451.hp1 HG03130.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0015 a0004c0008t0015	a0004c0008t0015g0039 a0004c0008t0015g0105 a0004c0008t0015g0039 a0004c0008t0015g0105	3	398	0.0075	314	c.-23 others(325): Show c.-2349_-2348insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(307): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0229 a0005c0005t0003g0229	1	328	0.0031	314	c.-12 others(331): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR51A7_chr11_4898783_4914462	4902306	C C	CTAGAATT others(307): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGACTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03130.hp1 NA19240.hp1 HG02886.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0025 a0001c0001t0001g0034	3	452	0.0066	314	c.-15 others(325): Show c.-1570_-1569insTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGACTACA	OR51A7	ENSG00000176895.9	transcript	ENST00000641490.1	protein_coding		1476		chr11	TogoVar
OS9_chr12_57689132_57726557	57689483	C C	CATTATAG others(307): Show CATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18940.hp1 NA19055.hp1 HG03490.hp1 NA18940.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015	3	352	0.0085	314	c.-46 others(325): Show c.-4679_-4678insATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding		4648		chr12	TogoVar
OSGIN1_chr16_83948240_83971332	83950870	C C	CATACACA others(307): Show CATACACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACACACGCACACATGGGCACATGTGCACACATGCACATACATA CTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACGCACATGTGCACACATGCACATACA TACTGGCACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02257.hp2 others(4): Show HG00639.hp2 HG02055.hp2 HG02257.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0002g0034 a0001c0001t0002g0201 a0001c0001t0003g0184 others(3): Show a0001c0001t0002g0034 a0001c0001t0002g0201 a0001c0001t0003g0184 a0001c0002t0003g0174 a0001c0003t0003g0178 a0001c0003t0003g0181	7	350	0.0200	314	c.-25 others(325): Show c.-2533_-2532insATACACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACACACGCACACATGGGCACATGTGCAC ACATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACACACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACGCACATGTGC ACACATGCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2369		chr16	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(307): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0036 a0001c0041t0036	a0001c0041t0036g0344 a0001c0041t0036g0344	1	356	0.0028	314	c.92+ others(329): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(307): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	178	0.0056	314	c.773 others(329): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARD3B_chr2_204540475_205625162	204787186	T T	TAAGAGAT others(307): Show TAAGAGATCACTTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCTG AGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0011 a0008c0014t0011	a0008c0014t0011g0023 a0008c0014t0011g0023	1	54	0.0185	314	c.222 others(335): Show c.222+100920_222+100921insGGCCGGGCGCGGTGGCTCACGCCT GTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTA GGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAGAGATCACTTCACC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204787186	T T	TAAGAGAT others(307): Show TAAGAGATCACTTCACCGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCTG AGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02723.hp2 others(1): Show HG02145.hp1 HG02257.hp2 HG02723.hp2 HG02976.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0015 a0002c0002 a0003c0010 others(1): Show a0001c0015 a0002c0002 a0003c0010 a0010c0025	a0001c0015t0006 a0002c0002t0004 a0003c0010t0019 others(1): Show a0001c0015t0006 a0002c0002t0004 a0003c0010t0019 a0010c0025t0022	a0001c0015t0006g0024 a0002c0002t0004g0029 a0003c0010t0019g0030 others(1): Show a0001c0015t0006g0024 a0002c0002t0004g0029 a0003c0010t0019g0030 a0010c0025t0022g0009	4	54	0.0741	314	c.222 others(335): Show c.222+100920_222+100921insGGCCGGGCGCGGTGGCTCACGCCT GTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTA GGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAGAGATCACTTCACC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(307): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAG TGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGG TGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	380	0.0026	314	c.255 others(333): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCA CCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCAC TCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGT CACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(307): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGT GATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGG TGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	380	0.0026	314	c.255 others(333): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCA CCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCAC TCACTGTCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGGTGGT others(307): Show GTGGTGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGG TGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	380	0.0026	314	c.255 others(333): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCA CCTTCACCACTCACTGTCGTCACCACCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCATCACCTTCACCACTCACTGTCGTCACCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981592	A A	ATGATGGT others(307): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18994.hp2 NA19084.hp1 others(1): Show HG02523.hp1 NA18994.hp2 NA19084.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0010 a0002c0002t0002g0259 a0002c0002t0002g0261	4	380	0.0105	314	c.255 others(333): Show c.2556+1339_2556+1340insCCACCACCTTCACCACTCACTGTCGT CACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981672	A A	ATGATGGT others(307): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	380	0.0026	314	c.255 others(333): Show c.2556+1259_2556+1260insCCACCACCTTCACCACTCACTGTCGT CACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCATCACCTTCACCACTCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCDH11X_chrX_91774375_92628230	92301721	G G	GCAGCTTC others(307): Show GCAGCTTCCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	154	0.0065	314	c.314 others(335): Show c.3144+38593_3144+38594insTTTCTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGCTTCCTTTTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92301721	G G	GCAGCTTC others(307): Show GCAGCTTCCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp1 HG04199.hp1 HG02976.hp2 HG03540.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0018 a0001c0002t0021 a0001c0001t0002 a0001c0001t0018 a0001c0002t0021	a0001c0001t0002g0016 a0001c0001t0018g0087 a0001c0002t0021g0006 a0001c0001t0002g0016 a0001c0001t0018g0087 a0001c0002t0021g0006	3	154	0.0195	314	c.314 others(335): Show c.3144+38593_3144+38594insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGCTTCCTTTTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH7_chr4_30715369_31151800	31071941	T T	TAAATAAC others(307): Show TAAATAACTACTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	1	214	0.0047	314	c.339 others(335): Show c.3392-70518_3392-70517insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAATAACTACTCTT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNX4_chr14_60086923_60153221	60108768	A A	AATATTGA others(307): Show AATATTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp2 HG02896.hp2 others(2): Show HG01175.hp1 HG02683.hp2 HG02896.hp2 NA18942.hp1 NA18950.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0020 a0001c0001 a0022c0020	a0001c0001t0007 a0001c0001t0021 a0001c0001t0038 others(1): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0038 a0022c0020t0007	a0001c0001t0007g0040 a0001c0001t0021g0129 a0001c0001t0021g0145 others(2): Show a0001c0001t0007g0040 a0001c0001t0021g0129 a0001c0001t0021g0145 a0001c0001t0038g0130 a0022c0020t0007g0040	5	308	0.0162	314	c.689 others(329): Show c.689+454_689+455insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCATATTGATTTTTT	PCNX4	ENSG00000126773.13	transcript	ENST00000406854.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PDE11A_chr2_177618244_178077777	177679087	T T	TAAGAAAA others(307): Show TAAGAAAAGAGAGGCCAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCCGCCTGGGCCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp2 others(2): Show HG02109.hp2 HG02257.hp1 HG02559.hp2 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0032 a0001c0001 a0001c0003 a0001c0032	a0001c0001t0008 a0001c0001t0014 a0001c0003t0014 others(1): Show a0001c0001t0008 a0001c0001t0014 a0001c0003t0014 a0001c0032t0068	a0001c0001t0008g0030 a0001c0001t0008g0148 a0001c0001t0014g0051 others(2): Show a0001c0001t0008g0030 a0001c0001t0008g0148 a0001c0001t0014g0051 a0001c0003t0014g0151 a0001c0032t0068g0170	5	170	0.0294	314	c.242 others(333): Show c.2423+1738_2423+1739insTTCTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTGGCCCAGGCGGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGGCCTGGCCTCTCTTTTCTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	16/19			chr2	TogoVar
PDE2A_chr11_72571141_72679422	72609864	T T	TAAAAGAC others(307): Show TAAAAGACCACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02148.hp2 NA18960.hp1 others(3): Show HG01175.hp1 HG02148.hp2 NA18960.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0170	6	292	0.0206	314	c.145 others(331): Show c.145-1114_145-1113insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAACTGTGGTCTTTT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PDE8B_chr5_77205680_77433256	77395390	T T	TAGGCGTG others(307): Show TAGGCGTGAGCCACCGCGCCCGGCCAATTCAATTTATTTTTTATTTATTT ATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGTGG TGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTC CTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCC CGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTTCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(38): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG02004.hp2 HG02040.hp2 HG02165.hp1 HG02273.hp2 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03654.hp2 HG03942.hp1 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18963.hp1 NA18971.hp2 NA18979.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0043	a0001c0001t0001g0300 a0001c0001t0002g0062 a0001c0001t0002g0066 others(38): Show a0001c0001t0001g0300 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0149 a0001c0001t0002g0170 a0001c0001t0003g0068 a0001c0001t0015g0063 a0001c0002t0001g0237 a0001c0002t0002g0055 a0001c0002t0002g0157 a0001c0002t0003g0116 a0001c0002t0003g0190 a0001c0002t0004g0048 a0001c0002t0004g0072 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0004g0100 a0001c0002t0004g0103 a0001c0002t0004g0126 a0001c0002t0004g0159 a0001c0002t0004g0186 a0001c0002t0004g0203 a0001c0002t0004g0235 a0001c0002t0004g0244 a0001c0002t0004g0254 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0282 a0001c0002t0004g0285 a0001c0002t0004g0286 a0001c0002t0004g0298 a0001c0002t0004g0299 a0001c0002t0005g0154 a0001c0002t0005g0156 a0001c0002t0005g0202 a0001c0002t0005g0264 a0001c0002t0005g0291 a0001c0002t0011g0109 a0001c0002t0014g0054 a0001c0002t0043g0160	41	314	0.1306	314	c.116 others(333): Show c.1168-4837_1168-4836insGCCAATTCAATTTATTTTTTATTTAT TTATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGT GGTGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTC TCCTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCT CCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTT CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77395390	T T	TAGGCGTG others(307): Show TAGGCGTGAGCCACCGTGCCCGGCCAATTCAATTTATTTTTTATTTATTT ATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGTGG TGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTC CTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCC CGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTTCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(208): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0002c0004 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0002t0002 a0001c0002t0016 a0001c0002t0018 a0001c0002t0023 a0001c0002t0032 a0001c0003t0007 a0001c0003t0008 a0001c0006t0007 a0001c0008t0003 a0001c0010t0005 a0001c0011t0005 a0002c0004t0002 a0002c0004t0024 a0003c0005t0005 a0003c0005t0006 a0004c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(208): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0087 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0001t0001g0295 a0001c0001t0002g0041 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0212 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0233 a0001c0001t0002g0252 a0001c0001t0002g0281 a0001c0001t0002g0301 a0001c0001t0003g0002 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0165 a0001c0001t0003g0172 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0207 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0258 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0309 a0001c0001t0004g0011 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0151 a0001c0001t0004g0173 a0001c0001t0004g0230 a0001c0001t0004g0269 a0001c0001t0004g0284 a0001c0001t0005g0008 a0001c0001t0005g0022 a0001c0001t0005g0052 a0001c0001t0005g0089 a0001c0001t0005g0094 a0001c0001t0005g0096 a0001c0001t0005g0105 a0001c0001t0005g0114 a0001c0001t0005g0145 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0204 a0001c0001t0005g0234 a0001c0001t0005g0262 a0001c0001t0005g0266 a0001c0001t0005g0274 a0001c0001t0005g0314 a0001c0001t0006g0047 a0001c0001t0006g0059 a0001c0001t0006g0092 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0121 a0001c0001t0006g0127 a0001c0001t0006g0142 a0001c0001t0006g0187 a0001c0001t0006g0208 a0001c0001t0006g0220 a0001c0001t0006g0224 a0001c0001t0006g0228 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0248 a0001c0001t0006g0260 a0001c0001t0006g0278 a0001c0001t0006g0283 a0001c0001t0006g0297 a0001c0001t0007g0003 a0001c0001t0007g0009 a0001c0001t0007g0134 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0024 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0177 a0001c0001t0009g0107 a0001c0001t0009g0155 a0001c0001t0009g0175 a0001c0001t0009g0185 a0001c0001t0009g0191 a0001c0001t0009g0214 a0001c0001t0009g0225 a0001c0001t0009g0227 a0001c0001t0009g0229 a0001c0001t0009g0236 a0001c0001t0009g0249 a0001c0001t0009g0255 a0001c0001t0009g0287 a0001c0001t0010g0075 a0001c0001t0010g0076 a0001c0001t0010g0120 a0001c0001t0010g0161 a0001c0001t0010g0192 a0001c0001t0010g0197 a0001c0001t0010g0200 a0001c0001t0011g0023 a0001c0001t0011g0136 a0001c0001t0011g0223 a0001c0001t0012g0069 a0001c0001t0012g0070 a0001c0001t0012g0079 a0001c0001t0012g0080 a0001c0001t0014g0082 a0001c0001t0014g0125 a0001c0001t0015g0138 a0001c0001t0017g0095 a0001c0001t0017g0245 a0001c0001t0017g0246 a0001c0001t0018g0081 a0001c0001t0019g0182 a0001c0001t0019g0188 a0001c0001t0019g0259 a0001c0001t0021g0124 a0001c0001t0021g0148 a0001c0001t0021g0150 a0001c0001t0022g0010 a0001c0001t0024g0043 a0001c0001t0025g0213 a0001c0001t0025g0289 a0001c0001t0026g0035 a0001c0001t0029g0106 a0001c0001t0029g0141 a0001c0001t0030g0271 a0001c0001t0031g0162 a0001c0001t0031g0215 a0001c0001t0033g0073 a0001c0001t0034g0005 a0001c0001t0035g0288 a0001c0001t0036g0084 a0001c0001t0037g0026 a0001c0001t0040g0020 a0001c0001t0041g0006 a0001c0001t0042g0017 a0001c0001t0044g0119 a0001c0002t0002g0053 a0001c0002t0002g0097 a0001c0002t0016g0019 a0001c0002t0016g0031 a0001c0002t0018g0021 a0001c0002t0018g0179 a0001c0002t0023g0305 a0001c0002t0023g0307 a0001c0002t0032g0037 a0001c0003t0007g0004 a0001c0003t0008g0131 a0001c0003t0008g0132 a0001c0003t0008g0133 a0001c0003t0008g0137 a0001c0006t0007g0313 a0001c0008t0003g0018 a0001c0010t0005g0232 a0001c0011t0005g0101 a0002c0004t0002g0147 a0002c0004t0024g0143 a0003c0005t0005g0277 a0003c0005t0006g0174 a0004c0009t0003g0046	211	314	0.6720	314	c.116 others(333): Show c.1168-4843_1168-4842insTGCCCGGCCAATTCAATTTATTTTTT ATTTATTTATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAG TGCAGTGGTGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CTATTCTCCTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCC ACCGCTCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTTTCAAAGTGCTGGGATTACAGGCGTGAGCCACCG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77395390	T T	TAGGCGTG others(307): Show TAGGCGTGAGCCACCGTGCCCGGCCAATTCAATTTATTTTTTATTTATTT ATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGTGG TGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTC CTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCC CGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGTC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTTCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG03540.hp2 others(1): Show HG02451.hp2 HG03041.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0025 a0001c0001t0020g0032 a0001c0001t0020g0176 others(1): Show a0001c0001t0007g0025 a0001c0001t0020g0032 a0001c0001t0020g0176 a0001c0001t0020g0183	4	314	0.0127	314	c.116 others(333): Show c.1168-4843_1168-4842insTGCCCGGCCAATTCAATTTATTTTTT ATTTATTTATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAG TGCAGTGGTGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CTATTCTCCTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCC ACCGCTCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCG TGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTTTCAAAGTGCTGGGATTACAGGCGTGAGCCACCG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77395390	T T	TAGGCGTG others(307): Show TAGGCGTGAGCCACCGTGCCCGGCCAATTCAATTTATTTTTTATTTATTT ATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGTGG TGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTC CTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCC CGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGTTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTTCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0302 a0001c0001t0022g0302	1	314	0.0032	314	c.116 others(333): Show c.1168-4843_1168-4842insTGCCCGGCCAATTCAATTTATTTTTT ATTTATTTATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAG TGCAGTGGTGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CTATTCTCCTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCC ACCGCTCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGTTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTTTCAAAGTGCTGGGATTACAGGCGTGAGCCACCG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar

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