Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HS3ST6_chr16_1906475_1923415	1920165	C C	CGGTCTCA others(170): Show CGGTCTCAGCAGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCATC CCCACGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTGAGT CCCCACGGTCTCAGCTGTTCCCACGGTCTCAGGAGTCCCCACAGTCTCAG CTATCCCCACGGTCTCAGCCATCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(127): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02257.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013	a0001c0001 a0001c0007 a0001c0023 others(8): Show a0001c0001 a0001c0007 a0001c0023 a0003c0003 a0004c0006 a0005c0005 a0006c0008 a0007c0009 a0010c0020 a0012c0021 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0007t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0003 a0001c0023t0001 a0003c0003t0001 a0004c0006t0001 a0005c0005t0001 a0006c0008t0003 a0007c0009t0001 a0010c0020t0001 a0012c0021t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0002g0086 a0001c0007t0003g0012 a0001c0007t0003g0087 a0001c0023t0001g0089 a0003c0003t0001g0052 a0003c0003t0001g0081 a0003c0003t0001g0088 a0004c0006t0001g0010 a0004c0006t0001g0049 a0004c0006t0001g0054 a0005c0005t0001g0011 a0006c0008t0003g0019 a0007c0009t0001g0025 a0007c0009t0001g0051 a0010c0020t0001g0038 a0012c0021t0001g0041 a0013c0013t0001g0035	130	433	0.3002	177	c.-18 others(188): Show c.-1843_-1842insACGGGGATGGCTGAGACCGTGGGGATAGCTGAGA CTGTGGGGACTCCTGAGACCGTGGGAACAGCTGAGACCGTGGGGACTCAG ACCGTGGGGACGGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGATGGC TGAGACCGTGGGGGCTCCTGAGACCGTGGGGACTGCTGAGACC		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1751		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920165	C C	CGGTCTCA others(170): Show CGGTCTCAGCAGTCCCCACGGTCTCCGGAGCCCCCACGGTCTCAGCCATC CCCACGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTGAGT CCCCACGGTCTCAGCTGTTCCCACGGTCTCAGGAGTCCCCACAGTCTCAG CTATCCCCACGGTCTCAGCCATCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0048 a0009c0011t0001g0048	1	433	0.0023	177	c.-18 others(188): Show c.-1843_-1842insACGGGGATGGCTGAGACCGTGGGGATAGCTGAGA CTGTGGGGACTCCTGAGACCGTGGGAACAGCTGAGACCGTGGGGACTCAG ACCGTGGGGACGGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGATGGC TGAGACCGTGGGGGCTCCGGAGACCGTGGGGACTGCTGAGACC		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1751		chr16	TogoVar
HSPBAP1_chr3_122734999_122798831	122747767	A A	AGCCCCCC others(170): Show AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGTCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACC CCGTCCAGGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	350	0.0029	177	c.825 others(194): Show c.825+4823_825+4824insCTGACCCCCCCACCTCCCTCCTGGACGG GGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGACGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC		HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7						chr3	TogoVar
HSPBAP1_chr3_122734999_122798831	122747769	C C	CCCCCCCG others(170): Show CCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGTCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCC CGTCCAGGAGGGAGGTGGGGGGATCAGG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0159 a0002c0002t0003g0159	1	350	0.0029	177	c.825 others(194): Show c.825+4821_825+4822insCCTGATCCCCCCACCTCCCTCCTGGACG GGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGACGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG		HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7						chr3	TogoVar
IFT140_chr16_1505427_1617072	1599403	G G	GCCGTCCG others(170): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGG GGTCAGCCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(133): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0005 others(14): Show a0001 a0003 a0005 a0007 a0008 a0010 a0013 a0014 a0015 a0016 a0018 a0022 a0023 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0004 others(30): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0014 a0001c0020 a0001c0037 a0001c0043 a0001c0054 a0001c0057 a0003c0005 a0003c0017 a0003c0018 a0003c0019 a0003c0032 a0003c0059 a0005c0039 a0007c0013 a0007c0060 a0008c0040 a0010c0015 a0010c0016 a0013c0023 a0014c0042 a0015c0056 a0016c0038 a0018c0061 a0022c0028 a0023c0030 a0025c0024 a0026c0027 a0027c0041 a0028c0029	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(35): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0004t0001 a0001c0004t0003 a0001c0008t0001 a0001c0014t0003 a0001c0014t0006 a0001c0020t0003 a0001c0037t0001 a0001c0043t0001 a0001c0054t0001 a0001c0057t0003 a0003c0005t0001 a0003c0005t0003 a0003c0017t0001 a0003c0018t0001 a0003c0019t0003 a0003c0032t0008 a0003c0059t0001 a0005c0039t0001 a0007c0013t0001 a0007c0060t0001 a0008c0040t0003 a0010c0015t0003 a0010c0016t0001 a0013c0023t0001 a0014c0042t0001 a0015c0056t0001 a0016c0038t0001 a0018c0061t0001 a0022c0028t0001 a0023c0030t0003 a0025c0024t0001 a0026c0027t0003 a0027c0041t0001 a0028c0029t0003	a0001c0001t0003g0123 a0001c0002t0001g0013 a0001c0002t0001g0041 others(133): Show a0001c0001t0003g0123 a0001c0002t0001g0013 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0061 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0224 a0001c0002t0001g0311 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0003g0064 a0001c0002t0003g0090 a0001c0002t0003g0106 a0001c0002t0003g0208 a0001c0002t0010g0186 a0001c0004t0001g0066 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0092 a0001c0004t0001g0095 a0001c0004t0001g0105 a0001c0004t0001g0117 a0001c0004t0003g0014 a0001c0004t0003g0079 a0001c0004t0003g0082 a0001c0004t0003g0088 a0001c0004t0003g0101 a0001c0004t0003g0108 a0001c0004t0003g0112 a0001c0004t0003g0114 a0001c0004t0003g0115 a0001c0004t0003g0124 a0001c0004t0003g0130 a0001c0004t0003g0189 a0001c0008t0001g0203 a0001c0008t0001g0211 a0001c0008t0001g0216 a0001c0008t0001g0221 a0001c0008t0001g0222 a0001c0014t0003g0103 a0001c0014t0006g0209 a0001c0014t0006g0215 a0001c0020t0003g0138 a0001c0020t0003g0139 a0001c0037t0001g0127 a0001c0043t0001g0219 a0001c0054t0001g0119 a0001c0057t0003g0214 a0003c0005t0001g0141 a0003c0005t0001g0142 a0003c0005t0001g0143 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0005t0001g0146 a0003c0005t0001g0148 a0003c0005t0001g0150 a0003c0005t0001g0155 a0003c0005t0001g0156 a0003c0005t0001g0157 a0003c0005t0003g0063 a0003c0005t0003g0135 a0003c0005t0003g0149 a0003c0005t0003g0151 a0003c0005t0003g0153 a0003c0005t0003g0154 a0003c0017t0001g0058 a0003c0017t0001g0059 a0003c0018t0001g0133 a0003c0018t0001g0152 a0003c0019t0003g0136 a0003c0019t0003g0137 a0003c0032t0008g0003 a0003c0059t0001g0050 a0005c0039t0001g0158 a0007c0013t0001g0191 a0007c0013t0001g0192 a0007c0013t0001g0193 a0007c0013t0001g0194 a0007c0060t0001g0195 a0008c0040t0003g0187 a0010c0015t0003g0053 a0010c0015t0003g0055 a0010c0016t0001g0054 a0010c0016t0001g0056 a0013c0023t0001g0048 a0013c0023t0001g0060 a0014c0042t0001g0109 a0015c0056t0001g0068 a0016c0038t0001g0094 a0018c0061t0001g0116 a0022c0028t0001g0057 a0023c0030t0003g0198 a0025c0024t0001g0111 a0026c0027t0003g0134 a0027c0041t0001g0062 a0028c0029t0003g0188	136	334	0.4072	177	c.369 others(194): Show c.369+2966_369+2967insGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30						chr16	TogoVar
IFT140_chr16_1505427_1617072	1599403	G G	GTCGTCCG others(170): Show GTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGG GGTCAGCCCCCCCACCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20905.hp2 HG01081.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0096 a0001c0002t0001g0073 a0001c0002t0001g0096	2	334	0.0060	177	c.369 others(194): Show c.369+2966_369+2967insGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGA		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30						chr16	TogoVar
IFT80_chr3_160251986_160404225	160312944	A A	AATATATA others(170): Show AATATATATTATATATAAATATATAATATATAATAAATATATATTATATA TAAATATATTATATATAATAAATATATATTATATATAAATATATAATATA TATAATAAATATATATTATATATAAATATATAATATATATAATAAATATA TATTATATATAAATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	212	0.0047	177	c.958 others(194): Show c.958-5164_958-5163insATTATATATTATATATTTATATATAATA TATATTTATTATATATATTATATATTTATATATAATATATATTTATTATA TATATTATATATTTATATATAATATATATTTATTATATATAATATATTTA TATATAATATATATTTATTATATATTATATATTTATATATAATATATAT		IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19						chr3	TogoVar
IHO1_chr3_49194498_49263106	49200499	G G	GAGAGGAG others(170): Show GAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGGGAGAGAGAGAAAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0024 a0002c0003t0002g0024	1	196	0.0051	177	c.-16 others(192): Show c.-16+927_-16+928insGAGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAAAG AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAGAAAAGAAAAGAA		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
INPP5A_chr10_132532787_132788480	132774981	G G	GGAGAGAG others(170): Show GGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGGGGCA GGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0185 a0001c0005t0001g0186	2	204	0.0098	177	c.978 others(194): Show c.978-2687_978-2686insAGAGGGGCAGAGAGGAGGGGCAGGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGG GGGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775115	G G	GGGCAGGG others(170): Show GGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGA GGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01255.hp2 others(12): Show HG01071.hp1 HG01167.hp2 HG01255.hp2 HG01952.hp1 HG02083.hp2 HG02135.hp1 HG02738.hp1 HG03579.hp2 NA18962.hp1 NA18971.hp2 NA19087.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0004 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0115 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0017g0182 a0001c0003t0004g0199 a0001c0003t0004g0202 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0004g0203	15	204	0.0735	177	c.978 others(194): Show c.978-2544_978-2543insAGATGGGCAGAGAGGAGGGGCAGGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGG GGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
ISOC2_chr19_55447985_55466642	55455873	A A	AGGGTCTG others(170): Show AGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTGTGAGGGAGG AGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGCCTGGACTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00673.hp2 others(70): Show HG00408.hp1 HG00438.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp1 HG01433.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02451.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18976.hp1 NA18978.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0004c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0003g0048 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0159 a0001c0001t0005g0033 a0001c0001t0005g0072 a0001c0001t0008g0046 a0001c0001t0011g0147 a0004c0008t0001g0142	73	380	0.1921	177	c.139 others(190): Show c.139-29_139-28insAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTC CCTCACACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCC		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5						chr19	TogoVar
ISOC2_chr19_55447985_55466642	55455913	C C	GTGAGGGA others(170): Show GTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGCCTGGACTCCTGGGTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03669.hp1 NA20905.hp1 others(1): Show HG03654.hp1 HG03669.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0143 a0001c0001t0003g0022 a0001c0001t0003g0143	4	380	0.0105	177	c.139 others(190): Show c.139-68_139-67insACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAC		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5						chr19	TogoVar
ISOC2_chr19_55447985_55466642	55455945	G G	GGTCTGAG others(170): Show GGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGCCTGGACTCCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	380	0.0026	177	c.139 others(192): Show c.139-101_139-100insTCAGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGAC		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5						chr19	TogoVar
ITPR2_chr12_26330352_26838194	26785266	T T	TCTGCCCG others(170): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGGGGGAGGGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0123 a0001c0002t0046g0123	1	142	0.0070	177	c.163 others(194): Show c.163+4890_163+4891insGGGGCTGACCCCCCCTCCCCCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
KCNIP4_chr4_20723606_21953772	21920860	C C	CACTGTAC others(170): Show CACTGTACATTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp1 HG01243.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0074 a0001c0001t0001g0075 a0001c0001t0002g0074	2	80	0.0250	177	c.61+ others(194): Show c.61+27710_61+27711insCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAGAAAATGTACAGT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21920860	C C	CACTGTAC others(170): Show CACTGTACATTTTCTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	80	0.0125	177	c.61+ others(194): Show c.61+27710_61+27711insCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAGAAAATGTACAGT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63442851	T T	TTATCACC others(170): Show TTATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACC ACCACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCAC CATCACCATCACCACCACCACCATCACCATCACCATTACCACCACCATTA CCACCACCATCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0106 a0001c0003t0106	a0001c0003t0106g0311 a0001c0003t0106g0311	1	330	0.0030	177	c.691 others(192): Show c.691-321_691-320insGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATA		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442893	C C	CCACCATC others(170): Show CCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCATCACCACCATCACCATCACCACCAC CACCATCACCATCACCATTACCACCACCATTACCACCACCATCACCATCA CCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0306 a0001c0003t0003g0306	1	330	0.0030	177	c.691 others(192): Show c.691-363_691-362insATGGTGGTGGTGGTGGTGGTGGTGATGGTG ATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGATGGTGGT GGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGA TAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KDM4C_chr9_6752973_7180648	6808086	T T	TGCCCGGC others(170): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04204.hp1 HG01192.hp1 HG04204.hp1	a0002 a0004 a0002 a0004	a0002c0045 a0004c0005 a0002c0045 a0004c0005	a0002c0045t0002 a0004c0005t0002 a0002c0045t0002 a0004c0005t0002	a0002c0045t0002g0211 a0004c0005t0002g0008 a0002c0045t0002g0211 a0004c0005t0002g0008	2	266	0.0075	177	c.320 others(194): Show c.320+2339_320+2340insGAGGTGGGGGGTCAGCCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG		KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6808099	G G	GCCCCGTC others(170): Show GCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0122 a0001c0027t0001g0122	1	266	0.0038	177	c.320 others(194): Show c.320+2339_320+2340insGAGGTGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAGG		KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF17_chr1_20659014_20723007	20712616	A A	ATAGATAA others(170): Show ATAGATAATATTATCTATATTATATATAGATAATATTATCTATATTATAT ATATAGATAATATTATCTATATTATATATATAGATAATATTATCTATATT ATATATAGATAATATTATCTATATTATATATATAGATAATATTATCTATA TTATATATAGATAATATTATCTATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0047 a0003c0011t0002g0047	1	414	0.0024	177	c.480 others(192): Show c.480+837_480+838insATATATAGATAATATTATCTATATATAATA TAGATAATATTATCTATATATATAATATAGATAATATTATCTATATATAA TATAGATAATATTATCTATATATATAATATAGATAATATTATCTATATAT ATAATATAGATAATATTATCTATATATAATATAGATAATATTATCTA		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(170): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAACATAGATAATATTATCTATATCTATAACA TAGATAATATTATCTATATCTATAACATAGATAATATTATCTATATCTAT AACATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	414	0.0024	177	c.480 others(192): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATGTTAT AGATATAGATAATATTATCTATGTTATAGATATAGATAATATTATCTATG TTATAGATATAGATAATATTATCTATGTTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATCTATATCTATAATATAGATAATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(170): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAACA TAGATAATATTATCTATATCTATAACATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01952.hp2 HG02040.hp1 others(23): Show HG01256.hp1 HG01952.hp2 HG02040.hp1 HG02083.hp2 HG02602.hp2 HG02723.hp1 HG03239.hp2 HG03710.hp1 HG04115.hp2 NA18947.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18979.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp1 NA19002.hp2 NA19004.hp1 NA19030.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0037	a0001c0001 a0001c0083 a0002c0016 others(10): Show a0001c0001 a0001c0083 a0002c0016 a0002c0039 a0003c0011 a0003c0042 a0003c0089 a0003c0109 a0003c0126 a0004c0006 a0004c0050 a0004c0088 a0037c0082	a0001c0001t0001 a0001c0001t0002 a0001c0083t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0083t0001 a0002c0016t0001 a0002c0039t0001 a0003c0011t0001 a0003c0011t0002 a0003c0042t0001 a0003c0089t0001 a0003c0109t0001 a0003c0126t0001 a0004c0006t0001 a0004c0050t0001 a0004c0088t0001 a0037c0082t0001	a0001c0001t0001g0260 a0001c0001t0002g0257 a0001c0083t0001g0249 others(23): Show a0001c0001t0001g0260 a0001c0001t0002g0257 a0001c0083t0001g0249 a0002c0016t0001g0250 a0002c0039t0001g0258 a0002c0039t0001g0280 a0003c0011t0001g0242 a0003c0011t0001g0247 a0003c0011t0001g0268 a0003c0011t0002g0251 a0003c0042t0001g0252 a0003c0042t0001g0254 a0003c0089t0001g0253 a0003c0109t0001g0167 a0003c0126t0001g0300 a0004c0006t0001g0245 a0004c0006t0001g0248 a0004c0006t0001g0255 a0004c0006t0001g0256 a0004c0006t0001g0259 a0004c0006t0001g0269 a0004c0006t0001g0281 a0004c0006t0001g0284 a0004c0050t0001g0194 a0004c0088t0001g0261 a0037c0082t0001g0264	26	414	0.0628	177	c.480 others(192): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATGTTATAGATATAGATAATATTATCTATG TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATCTATATCTATAATATAGATAATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(170): Show GATATTATCTATATTATAGATATAGATATTTATATCTATAATATAGATAT AGATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01952.hp1 HG01978.hp1 others(17): Show HG00609.hp2 HG01952.hp1 HG01978.hp1 NA18947.hp2 NA18967.hp1 NA18968.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0005 a0001c0009 a0001c0047 others(7): Show a0001c0005 a0001c0009 a0001c0047 a0001c0049 a0002c0003 a0002c0010 a0002c0025 a0003c0037 a0003c0073 a0004c0030	a0001c0005t0001 a0001c0009t0001 a0001c0047t0008 others(7): Show a0001c0005t0001 a0001c0009t0001 a0001c0047t0008 a0001c0049t0001 a0002c0003t0001 a0002c0010t0001 a0002c0025t0001 a0003c0037t0001 a0003c0073t0001 a0004c0030t0001	a0001c0005t0001g0119 a0001c0005t0001g0123 a0001c0005t0001g0124 others(17): Show a0001c0005t0001g0119 a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0132 a0001c0005t0001g0196 a0001c0009t0001g0126 a0001c0009t0001g0136 a0001c0047t0008g0139 a0001c0049t0001g0143 a0002c0003t0001g0195 a0002c0010t0001g0044 a0002c0010t0001g0130 a0002c0010t0001g0131 a0002c0010t0001g0133 a0002c0010t0001g0177 a0002c0025t0001g0147 a0003c0037t0001g0266 a0003c0073t0001g0276 a0004c0030t0001g0049	20	414	0.0483	177	c.480 others(192): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATCTAT ATCTATATTATAGATATAAATATCTATATCTATAATATAGATAATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KLC1_chr14_103624211_103706544	103673759	T T	TAAAAATA others(170): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0083 a0001c0007t0014g0083	1	368	0.0027	177	c.126 others(194): Show c.1261+341_1261+342insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAA		KLC1	ENSG00000126214.22	transcript	ENST00000334553.11	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr14	TogoVar
LAMC1_chr1_183018420_183150592	183149540	C C	CCTCACAC others(170): Show CCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTC ACACCCCTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCACACCACACAGCTCACACCCCTGTCCT CCTCACACACCACACAGCCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	308	0.0033	177	c.67 others(188): Show c.6750_*6751insCTCACACACCACACAGCCCACACCCCTCTCCTCA CACACCAGACAGCTCACACCCCTCCTCCTCACACACCACACAGCCCACAC CCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACCACACAGC TCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCT		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					3949		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGCG others(170): Show CGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGT GAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGA TGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0042 a0001c0001t0010g0042	1	260	0.0039	177	c.717 others(194): Show c.717-2270_717-2269insCGGGTGCGGGTGCAGGTGAGGGTGCTGA TGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(170): Show ATATATTATATATTATATATAATATATATTATATATATTATATATTATAT ATATAATATATATTATATATTTTATATATATTATATATATAATATATAAT ATATATTTTATATATATAAAATATATAATATATATTATATATTATATATA TAAAATATATAATATATATTATATATTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0233 a0001c0001t0012g0233	1	278	0.0036	177	c.199 others(194): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATATTATATATTATATATATAATATATATTATATATTTTATATATATTAT ATATATAATATATAATATATATTTTATATATATAAAATATATAATATATA TTATATATTATATATATAAAATATATAATATATATTATATATTTTATAT		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN28B_chr6_104952107_105088332	105023557	A A	ATATATTA others(170): Show ATATATTATATATTATATATAATATATATTATATATTTTATATATTTTAT ATATATAATATATATTATATATTTTATATATATAAAATATATAATATATA ATATATATTATATATATAAAATATATAATATATAATATATATTATATATA TAAAATATATAATATATATTATATATTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	278	0.0036	177	c.199 others(194): Show c.199-2736_199-2735insTATATATTATATATAATATATATTATAT ATTTTATATATTTTATATATATAATATATATTATATATTTTATATATATA AAATATATAATATATAATATATATTATATATATAAAATATATAATATATA ATATATATTATATATATAAAATATATAATATATATTATATATTTTATAT		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	896052	C C	CCCACACG others(170): Show CCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGGAGGGGTTGTGAG GCTCAGCCACCCACACGCAGGCTGCATGGTCCACAGACACGCCTCGGAGG GGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGGTCCACACACACG CCTCGGAGGGGTTGTGAGGCTCAGCCAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02559.hp2 others(5): Show HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02976.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0006t0001	a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0006g0050 others(5): Show a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0006g0050 a0001c0002t0011g0292 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287	8	294	0.0272	177	c.664 others(194): Show c.664-2981_664-2980insATGGCTGAGCCTCACAACCCCTCCGAGG CGTGTGTGTGGACCGTGCAGCCTGCGTGTGGGTGGCTGAGCCTCACAACC CCTCCGAGGCGTGTCTGTGGACCATGCAGCCTGCGTGTGGGTGGCTGAGC CTCACAACCCCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCGTGTGG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(170): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGC AGTGGCGTGGGGGGCGGGGCAGTGGCGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0117 a0117	a0117c0037 a0117c0037	a0117c0037t0004 a0117c0037t0004	a0117c0037t0004g0042 a0117c0037t0004g0042	1	310	0.0032	177	c.143 others(194): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTG CCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LRP1_chr12_57123483_57218361	57198537	C C	CGTCATCG others(170): Show CGTCATCGTGGACACCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCGCAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18984.hp1 NA18984.hp1	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0002 a0016c0039t0002	a0016c0039t0002g0234 a0016c0039t0002g0234	1	276	0.0036	177	c.955 others(186): Show c.9558_9559insCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCGCAGCGGTCATCGTGGACACC	p.Thr others(192): Show p.Thr3186_Lys3187insProProLeuProProProProProProPro ProProProProProProProProProProProProProProProProPr oProProProProProProProProProProProProProProProProP roProProProProProProProProAlaAlaValIleValAspThr	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	60/89	10041/14923	9559/13635	3187/4544		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC24_chr8_144517388_144532033	144531368	C C	CGAGCAGC others(170): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01358.hp2 HG01123.hp2 HG01261.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0001 a0002c0002t0003g0001 a0002c0002t0001g0001 a0002c0002t0003g0001	3	398	0.0075	177	c.-46 others(188): Show c.-4645_-4469dupCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4336		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531859	G G	GGGCTAGA others(170): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	177	c.-49 others(188): Show c.-4960_-4959insTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4827		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531997	G G	GGCAGAAG others(170): Show GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	177	c.-50 others(188): Show c.-5098_-5097insTGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGC		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4965		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(170): Show ACATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCACTTACACCCACGCTTAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	290	0.0035	177	c.129 others(196): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTA C		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10						chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(170): Show ACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCACTTACACCCACGCTTAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0037 a0008c0014t0001g0037	1	290	0.0035	177	c.129 others(196): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTA C		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10						chr10	TogoVar
LY75_chr2_159798355_159909756	159874063	A A	ATATTGTA others(170): Show ATATTGTAAATATATATAAATATATTGTAAATATATATAGTAAATATATA TAAATATATTGTAAATATATATATTGTAAATATATATATTGTAAATATAT ATAAATATATTGTAAATATATGTTTTGTAAATATATAAATATATATATGT TTTGTAAATATATATAAATATATATATG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0315 a0012c0016t0001g0315	1	330	0.0030	177	c.197 others(196): Show c.1974+1380_1974+1381insCATATATATATTTATATATATTTACA AAACATATATATATTTATATATTTACAAAACATATATTTACAATATATTT ATATATATTTACAATATATATATTTACAATATATATATTTACAATATATT TATATATATTTACTATATATATTTACAATATATTTATATATATTTACAAT A		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(170): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	436	0.0023	177	c.40 others(188): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGTTAG		LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding					3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(170): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	436	0.0023	177	c.40 others(188): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAAG		LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding					3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(170): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0236	1	436	0.0023	177	c.40 others(188): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAAG		LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding					3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(170): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	436	0.0023	177	c.40 others(188): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAAG		LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding					3887		chr4	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGGGC others(170): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCATGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02056.hp1 HG02056.hp2 others(5): Show HG01496.hp1 HG02056.hp1 HG02056.hp2 HG02738.hp2 HG03688.hp1 HG03831.hp2 NA18947.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 a0001c0001t0058 a0001c0001t0080 a0001c0001t0174 a0001c0001t0211	a0001c0001t0002g0189 a0001c0001t0005g0297 a0001c0001t0011g0332 others(5): Show a0001c0001t0002g0189 a0001c0001t0005g0297 a0001c0001t0011g0332 a0001c0001t0029g0271 a0001c0001t0058g0227 a0001c0001t0080g0190 a0001c0001t0174g0239 a0001c0001t0211g0269	8	370	0.0216	177	c.855 others(194): Show c.855+9420_855+9421insCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CATGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGGGC others(170): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCATGC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0274 a0001c0001t0024g0274	1	370	0.0027	177	c.855 others(194): Show c.855+9412_855+9413insGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCATGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGGGC others(170): Show TGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCATGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	370	0.0027	177	c.855 others(194): Show c.855+9393_855+9394insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCC		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGGGG others(170): Show TGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCATGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0019 a0001c0001t0097g0019	1	370	0.0027	177	c.855 others(194): Show c.855+9382_855+9383insGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGG		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117430035	A A	ACCCCCCC others(170): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCATGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02135.hp2 HG02738.hp1 others(2): Show HG01192.hp1 HG02135.hp2 HG02738.hp1 HG04204.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0043 others(2): Show a0001c0001t0010 a0001c0001t0023 a0001c0001t0043 a0001c0001t0142 a0001c0001t0193	a0001c0001t0010g0318 a0001c0001t0023g0203 a0001c0001t0043g0010 others(2): Show a0001c0001t0010g0318 a0001c0001t0023g0203 a0001c0001t0043g0010 a0001c0001t0142g0097 a0001c0001t0193g0291	5	370	0.0135	177	c.855 others(194): Show c.855+9420_855+9421insCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC ATGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117430057	C C	CGGGGCGG others(170): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0306 a0001c0001t0065g0306	1	370	0.0027	177	c.855 others(194): Show c.855+9420_855+9421insCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC ATGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGC		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(170): Show AACCCTCCACCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCC CCCATAGGGACCCTCCCACCCCATCTCTCCCCACAGGGACCCCCTCACCC CATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGAC CCTCCCACCCCATCTCTCCCCCATAGGG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	330	0.0030	177	c.92+ others(192): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGG AGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGTGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19477857	G G	GGGGAGGG others(170): Show GGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGGGGGGA GGGGCGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GGGGAGGGGGGAGGGGGGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG02630.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0136 a0002c0002t0003g0137	2	163	0.0123	177	c.525 others(194): Show c.525+8624_525+8625insTCCCCCCTCTCCCCCCTCCCCCCTCCCC CCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCGCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCCTCCCCCTCCCCCCTCCCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar

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