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
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(292): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGGGGGACCTGGGG GTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGGG AGTGGGAAGTCGGGGTGTTGGGGGGGGGAGTGAGGGGGTTAGTGGGAAGA GAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTG GGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGT GAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG04199.hp1 HG00438.hp1 HG00673.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0058 a0001c0001t0003g0090 a0001c0001t0003g0035 a0001c0001t0003g0058 a0001c0001t0003g0090	3	277	0.0108	299	c.-80 others(308): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCC ACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAA CCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCCAACAC CCCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCC CCCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTC CACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(292): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGGAGTGGGGGACCTGGG GGTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGG GAGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGA GAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTG GGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGT GAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0179 a0001c0002t0003g0179	1	275	0.0036	299	c.-80 others(308): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCC ACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAA CCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACC CCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCCC CCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCCAACCCCCCACTTTC CACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MSI2_chr17_57251523_57689689	57539630	G G	GCAGTGAG others(292): Show GCAGTGAGCTGAGGTCGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAA GACTCTCAAAAAAAAAAAAAAATTACTCCATCCTAGCACCCTACCACAAT AACTATTGTTTGCCTTCTTCCTGACATGCACATAAAATGTTTTTAAAGTT GGTTGTAACTGTGGGGTTAATATTTGTTGAGTGAGGTGTGGGCTCTGCCT CATCTGAGTTTTCTGTCCTGCCAGGGACACCTAGGAGTTCCAAACCAGCA AGATGTGATTCAATGCAGCTGAGCATCCTTCACCTCTGAGTCTCCTCTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(118): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0092 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0003t0037 a0001c0004t0070	a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0045 others(118): Show a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0002g0014 a0001c0001t0002g0044 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0003g0009 a0001c0001t0003g0054 a0001c0001t0003g0077 a0001c0001t0003g0101 a0001c0001t0003g0138 a0001c0001t0003g0147 a0001c0001t0004g0002 a0001c0001t0005g0031 a0001c0001t0005g0043 a0001c0001t0005g0060 a0001c0001t0005g0091 a0001c0001t0006g0022 a0001c0001t0006g0039 a0001c0001t0006g0083 a0001c0001t0006g0104 a0001c0001t0007g0042 a0001c0001t0007g0050 a0001c0001t0007g0079 a0001c0001t0008g0066 a0001c0001t0009g0049 a0001c0001t0009g0088 a0001c0001t0009g0132 a0001c0001t0010g0118 a0001c0001t0011g0121 a0001c0001t0012g0018 a0001c0001t0012g0081 a0001c0001t0012g0089 a0001c0001t0013g0111 a0001c0001t0013g0133 a0001c0001t0014g0160 a0001c0001t0014g0163 a0001c0001t0015g0115 a0001c0001t0015g0157 a0001c0001t0016g0154 a0001c0001t0016g0155 a0001c0001t0018g0158 a0001c0001t0019g0034 a0001c0001t0019g0070 a0001c0001t0021g0038 a0001c0001t0021g0078 a0001c0001t0022g0102 a0001c0001t0023g0084 a0001c0001t0023g0139 a0001c0001t0024g0094 a0001c0001t0024g0096 a0001c0001t0025g0027 a0001c0001t0025g0136 a0001c0001t0026g0112 a0001c0001t0026g0148 a0001c0001t0027g0150 a0001c0001t0029g0149 a0001c0001t0030g0119 a0001c0001t0033g0120 a0001c0001t0035g0123 a0001c0001t0036g0074 a0001c0001t0038g0164 a0001c0001t0040g0162 a0001c0001t0041g0156 a0001c0001t0043g0117 a0001c0001t0045g0068 a0001c0001t0046g0061 a0001c0001t0047g0071 a0001c0001t0048g0110 a0001c0001t0049g0017 a0001c0001t0050g0037 a0001c0001t0052g0092 a0001c0001t0053g0021 a0001c0001t0054g0023 a0001c0001t0055g0030 a0001c0001t0056g0020 a0001c0001t0057g0144 a0001c0001t0058g0007 a0001c0001t0059g0127 a0001c0001t0060g0040 a0001c0001t0061g0105 a0001c0001t0062g0006 a0001c0001t0063g0140 a0001c0001t0065g0005 a0001c0001t0067g0130 a0001c0001t0071g0016 a0001c0001t0072g0145 a0001c0001t0074g0080 a0001c0001t0075g0015 a0001c0001t0076g0093 a0001c0001t0078g0141 a0001c0001t0079g0106 a0001c0001t0080g0134 a0001c0001t0081g0024 a0001c0001t0082g0107 a0001c0001t0083g0058 a0001c0001t0084g0097 a0001c0001t0085g0143 a0001c0001t0086g0063 a0001c0001t0087g0069 a0001c0001t0088g0035 a0001c0001t0089g0003 a0001c0001t0092g0114 a0001c0001t0095g0059 a0001c0001t0097g0067 a0001c0001t0098g0001 a0001c0001t0099g0098 a0001c0001t0100g0129 a0001c0001t0102g0013 a0001c0001t0103g0153 a0001c0003t0037g0116 a0001c0004t0070g0072	121	153	0.7909	299	c.454 others(316): Show c.454+9907_454+9908insAGTGAGCTGAGGTCGTGCCACTGCACTC TAGCCTGGGTGACAGAGTAAGACTCTCAAAAAAAAAAAAAAATTACTCCA TCCTAGCACCCTACCACAATAACTATTGTTTGCCTTCTTCCTGACATGCA CATAAAATGTTTTTAAAGTTGGTTGTAACTGTGGGGTTAATATTTGTTGA GTGAGGTGTGGGCTCTGCCTCATCTGAGTTTTCTGTCCTGCCAGGGACAC CTAGGAGTTCCAAACCAGCAAGATGTGATTCAATGCAGCTGAGCATCCTT CACCTCTGAGTCTCCTCTGTC	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSI2_chr17_57251523_57689689	57539630	G G	GCAGTGAG others(292): Show GCAGTGAGCTGAGGTCGTGCCACTGCACTCTAGCCTGGGTGACAGTGTAA GACTCTCAAAAAAAAAAAAAAATTACTCCATCCTAGCACCCTACCACAAT AACTATTGTTTGCCTTCTTCCTGACATGCACATAAAATGTTTTTAAAGTT GGTTGTAACTGTGGGGTTAATATTTGTTGAGTGAGGTGTGGGCTCTGCCT CATCTGAGTTTTCTGTCCTGCCAGGGACACCTAGGAGTTCCAAACCAGCA AGATGTGATTCAATGCAGCTGAGCATCCTTCACCTCTGAGTCTCCTCTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG02630.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0022 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0022 a0001c0001t0093	a0001c0001t0007g0100 a0001c0001t0009g0146 a0001c0001t0022g0073 others(1): Show a0001c0001t0007g0100 a0001c0001t0009g0146 a0001c0001t0022g0073 a0001c0001t0093g0032	4	36	0.1111	299	c.454 others(316): Show c.454+9907_454+9908insAGTGAGCTGAGGTCGTGCCACTGCACTC TAGCCTGGGTGACAGTGTAAGACTCTCAAAAAAAAAAAAAAATTACTCCA TCCTAGCACCCTACCACAATAACTATTGTTTGCCTTCTTCCTGACATGCA CATAAAATGTTTTTAAAGTTGGTTGTAACTGTGGGGTTAATATTTGTTGA GTGAGGTGTGGGCTCTGCCTCATCTGAGTTTTCTGTCCTGCCAGGGACAC CTAGGAGTTCCAAACCAGCAAGATGTGATTCAATGCAGCTGAGCATCCTT CACCTCTGAGTCTCCTCTGTC	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	767828	G G	GGGGCGTG others(292): Show GGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGG GGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGG AGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0132 a0009c0012t0001g0132	1	338	0.0030	299	c.159 others(316): Show c.1596+361_1596+362insCGTGGAGGGGGGCGCGTGGAGGAGGAGG GGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCG CGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGTGCGTGGAGGAGGAGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(292): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGG TGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGT GGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGC TGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0343	1	4	0.2500	299	c.160 others(316): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCACCATCACCACCACCACCATCGCCGCCACCACCACCA TCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO9A_chr15_71817291_72123150	72027108	T T	TAAGAGTT others(292): Show TAAGAGTTATATACCCTTAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0268 a0002c0003t0032g0268	1	306	0.0033	299	c.998 others(314): Show c.998+622_998+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTAAGGGTATATAACTCTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	4/41			chr15	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(292): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATACATAATATAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 NA18948.hp2 others(2): Show HG02809.hp2 HG02970.hp2 NA18948.hp2 NA19077.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0001t0178 a0001c0001t0179 others(2): Show a0001c0001t0043 a0001c0001t0178 a0001c0001t0179 a0001c0002t0008 a0001c0002t0111	a0001c0001t0043g0327 a0001c0001t0178g0157 a0001c0001t0179g0155 others(2): Show a0001c0001t0043g0327 a0001c0001t0178g0157 a0001c0001t0179g0155 a0001c0002t0008g0284 a0001c0002t0111g0026	5	28	0.1786	299	c.308 others(314): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(292): Show ACTAGAGTTCTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCGCCCAGGC TGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC GCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGT CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	290	0.0034	299	c.553 others(314): Show c.553-814_553-813insTTTTTTTTTGAGACGGAGTTTTGCTCTGTC GCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(292): Show CAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	193	0.0052	299	c.98 others(308): Show c.980_*981insTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGC AGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTT TTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(292): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01258.hp2 others(1): Show HG00735.hp1 HG01192.hp1 HG01258.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0072	4	196	0.0204	299	c.98 others(308): Show c.980_*981insTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGT GCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT TTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(292): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG04228.hp2 HG01074.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	215	0.0093	299	c.29 others(310): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(292): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04115.hp1 HG03688.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0296 a0001c0001t0001g0281 a0001c0001t0001g0296	2	254	0.0079	299	c.373 others(316): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGTCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(292): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAG GAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGA GGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAG GGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGA GGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA19083.hp2 HG02071.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0111 a0003c0004t0089 a0001c0001t0111 a0003c0004t0089	a0001c0001t0111g0258 a0003c0004t0089g0296 a0001c0001t0111g0258 a0003c0004t0089g0296	2	33	0.0606	299	c.563 others(318): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(292): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAA TGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGA GGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAA GGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGA GGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02965.hp1 HG02630.hp2 HG02717.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0055 a0001c0001t0008 a0001c0001t0029 a0001c0001t0055	a0001c0001t0008g0214 a0001c0001t0029g0069 a0001c0001t0055g0023 a0001c0001t0008g0214 a0001c0001t0029g0069 a0001c0001t0055g0023	3	34	0.0882	299	c.563 others(318): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(292): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAATGAA GGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGA GGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAAGGGA AGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGAGGGA AAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0171 a0001c0001t0095g0171	1	32	0.0313	299	c.563 others(318): Show c.563-25477_563-25476insTCCCTCCCTCCCTCCCTCTCTCCCTC CCTTTCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCT CCCTCCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCC TTTTCCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCT CCCTCTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCT CCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(292): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAGGAAA TGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGAGGGA GGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAGGGAA GGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGAGGGA GGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	32	0.0313	299	c.563 others(318): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCT CCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(292): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAG GAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGA GGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAG GGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGA GGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01074.hp1 others(22): Show HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02683.hp1 HG03491.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 NA18964.hp2 NA18975.hp1 NA18986.hp1 NA18990.hp2 NA19011.hp2 NA19054.hp2 NA19063.hp2 NA19085.hp2 NA19088.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0036 a0001c0001t0063 a0001c0001t0086 a0002c0003t0013	a0001c0001t0001g0126 a0001c0001t0002g0093 a0001c0001t0002g0099 others(22): Show a0001c0001t0001g0126 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0155 a0001c0001t0002g0236 a0001c0001t0002g0261 a0001c0001t0002g0282 a0001c0001t0002g0294 a0001c0001t0004g0095 a0001c0001t0004g0133 a0001c0001t0006g0071 a0001c0001t0009g0014 a0001c0001t0013g0021 a0001c0001t0015g0180 a0001c0001t0016g0129 a0001c0001t0016g0153 a0001c0001t0016g0235 a0001c0001t0021g0117 a0001c0001t0021g0118 a0001c0001t0036g0145 a0001c0001t0036g0146 a0001c0001t0063g0052 a0001c0001t0086g0228 a0002c0003t0013g0063	25	56	0.4464	299	c.563 others(318): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCT CCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(292): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGGACGGAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGGAAGGAAGGAAAGGGAG GAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGAAGGAAGGGA GGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAATGAAAGGAAG GGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGAAGGAGAGGA GGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	32	0.0313	299	c.563 others(318): Show c.563-25477_563-25476insTCCCTCCCTCTCTCCCTCCCTTTCTT CCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCTCCCT TCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTTCCTC CCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCTCA CCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTCCGTCCCT CCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(292): Show CAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTC TTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCAC CTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCC CACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAG CCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	120	0.0083	299	c.-16 others(320): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCACCT CTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCA CCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGC CCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGC AGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTC TGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTC CTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851526	T T	TGTCCGTG others(292): Show TGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0370 a0001c0001t0005g0370	1	392	0.0026	299	c.-65 others(314): Show c.-65-490_-65-489insGTCCGTGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NME4_chr16_392199_405754	397738	G G	GGTGGGGG others(292): Show GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGGGTGGGGGGGGTGAGGGGAGTCGGGTGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	354	0.0028	299	c.91+ others(312): Show c.91+425_91+426insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGGGGGGGGTGAGGGGAG TCGGGTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGT	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4			chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(292): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	141	0.0071	299	c.175 others(320): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTA AAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAA GTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTC TTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTA AAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAA GTACTTTTTAAAAAGTATTCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(292): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAGTACTT TTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(38): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02735.hp1 HG02970.hp2 HG03139.hp1 HG03492.hp2 HG04184.hp1 NA18948.hp1 NA18957.hp1 NA18957.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19057.hp1 NA19062.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0006c0009t0007	a0001c0001t0001g0092 a0001c0001t0003g0111 a0001c0001t0003g0116 others(38): Show a0001c0001t0001g0092 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0113 a0001c0001t0004g0122 a0001c0001t0004g0131 a0001c0001t0004g0135 a0001c0001t0004g0141 a0001c0001t0004g0167 a0001c0001t0007g0149 a0001c0001t0010g0110 a0001c0001t0011g0161 a0001c0001t0017g0127 a0001c0001t0021g0157 a0001c0001t0022g0126 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0039 a0002c0002t0002g0033 a0002c0002t0002g0037 a0003c0004t0001g0058 a0006c0009t0007g0166	41	48	0.8542	299	c.175 others(320): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(292): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTT TTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0006 a0001c0003t0015g0006	1	8	0.1250	299	c.175 others(320): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(292): Show GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CAGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0068 a0001c0003t0004g0068	1	188	0.0053	299	c.346 others(318): Show c.3466+2928_3466+2929insACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(292): Show GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC TGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02451.hp1 HG00140.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0004 a0002c0006t0004 a0001c0003t0004 a0002c0006t0004	a0001c0003t0004g0048 a0002c0006t0004g0119 a0001c0003t0004g0048 a0002c0006t0004g0119	2	189	0.0106	299	c.346 others(318): Show c.3466+2928_3466+2929insACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCTGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRXN2_chr11_64601174_64728197	64706110	A A	ATATATAT others(292): Show ATATATATAATATATATAATATATATTATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATAAAGTATATATA TAATATATATAATATATATTATATATAAAGTATATATATAATATATATAA TATATATTATATATATAAAGTATATATATAATATATATAATATATATTAT ATATATAAAGTATATATATAATATATATAATATATATTATATATATAAAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0240 a0001c0003t0003g0240	1	304	0.0033	299	c.730 others(316): Show c.730+6859_730+6860insCTTTATATATATAATATATATTATATAT ATTATATATATACTTTATATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATATATTATATATATACTTTATAT ATAATATATATTATATATATTATATATATACTTTATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATAATAT ATATTATATATATTATATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(292): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0332 a0003c0003t0006g0332	1	313	0.0032	299	c.-30 others(310): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCCTG others(292): Show TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	147	0.0068	299	c.360 others(318): Show c.360+30272_360+30273insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949084	C C	CCCCCTGC others(292): Show CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCT CCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	235	0.0043	299	c.360 others(318): Show c.360+30234_360+30235insAGAGGAGGAGGCAGCGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTOF_chr2_26452203_26483124	26476523	C C	CCCCTTCC others(292): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTC CCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	260	0.0038	299	c.436 others(314): Show c.436-207_436-206insCTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476523	C C	CCCCTTCC others(292): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTC CCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0139 a0004c0013t0001g0139	1	234	0.0043	299	c.267 others(316): Show c.2677-207_2677-206insCTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PACSIN3_chr11_47172522_47191434	47181261	C C	CAAAAAAA others(292): Show CAAAAAAAAAGAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	356	0.0028	299	c.212 others(314): Show c.212-572_212-571insTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTTTTTTCTTTTTTTTT	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding	4/10			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	62	0.0161	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCC CCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	62	0.0161	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCCTCCCTCCC CCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	62	0.0161	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(292): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	62	0.0161	299	c.155 others(316): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCTCCC CTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811324	T T	TTTCCTTC others(292): Show TTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCC TCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTTCCTTCCTTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0077 a0001c0002t0057g0077	1	153	0.0065	299	c.773 others(314): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTT CCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCT CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCC CTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TTCCTTTCCTTCCTTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(292): Show AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGAC TGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0229 a0001c0001t0001g0231	2	338	0.0059	299	c.4-1 others(312): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(292): Show AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGAC TGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	337	0.0030	299	c.4-1 others(312): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACAGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(292): Show AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGAC TGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTTAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	337	0.0030	299	c.4-1 others(312): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTAACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCNT_chr21_46319156_46450769	46413025	C C	CGGGAGAG others(292): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC GAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCA GCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGC TGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0174 a0003c0003t0001g0174	1	329	0.0030	299	c.615 others(316): Show c.6150+140_6150+141insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCAGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGG CGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413145	C C	CGGGAGAG others(292): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCG GCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGC TGGACACGCAGCAGCAAGGTGTGGGGAGCGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	327	0.0031	299	c.615 others(316): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTC CCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGG AGCGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413205	C C	CGGGAGAG others(292): Show CGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGC GAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCG GGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGT GTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCG GCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGC TGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	321	0.0031	299	c.615 others(316): Show c.6150+231_6150+232insGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCC CCTGGGAGAGGCTGGACACGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTC CCCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCC TCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	7	0.1429	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCCTCCCCCTCCCTCATCCCCTCCCCCC TCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	7	0.1429	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGGAGG GCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	7	0.1429	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGG GCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(292): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCCATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	7	0.1429	299	c.-37 others(310): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGGA GGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGG GCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PEX10_chr1_2398974_2417564	2401346	C C	CTCCTCCC others(292): Show CTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCTCCTTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCC TCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCC CTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCC TCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0036 a0001c0002t0004g0036	1	320	0.0031	299	c.44 others(310): Show c.4419_*4420insAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAAG GAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAGGGAGG AGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGAGGAGGGAG GAGGAGGAAGCAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGA GGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGAGGAGGAAGGAGGGAGG AAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGAAGG GAGGAGGAGGGAGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2627		chr1	TogoVar

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