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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(88): Show AAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCA CCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18991.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0012	a0001c0001 a0001c0007 a0002c0003 others(4): Show a0001c0001 a0001c0007 a0002c0003 a0002c0006 a0006c0012 a0008c0013 a0012c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0007t0001 a0002c0003t0001 a0002c0006t0001 a0006c0012t0001 a0008c0013t0001 a0012c0009t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0021 a0001c0001t0002g0058 a0001c0001t0002g0167 a0001c0001t0003g0057 a0001c0001t0003g0166 a0001c0001t0006g0130 a0001c0007t0001g0136 a0001c0007t0001g0139 a0001c0007t0001g0140 a0001c0007t0001g0151 a0002c0003t0001g0029 a0002c0003t0001g0107 a0002c0006t0001g0042 a0002c0006t0001g0094 a0002c0006t0001g0138 a0006c0012t0001g0150 a0008c0013t0001g0129 a0012c0009t0005g0106	161	398	0.4045	95	c.53 others(106): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AAATTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(88): Show AAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCAC CTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	398	0.0025	95	c.53 others(106): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTTTGAGATGGAGTC TCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAA AAAATTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(88): Show AAAAAAAATTTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCA CCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(151): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0013	a0001c0001 a0001c0004 a0001c0011 others(7): Show a0001c0001 a0001c0004 a0001c0011 a0002c0003 a0003c0002 a0004c0005 a0005c0008 a0007c0016 a0011c0017 a0013c0015	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 others(7): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0001 a0005c0008t0001 a0007c0016t0001 a0011c0017t0001 a0013c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0114 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0048 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0063 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0118 a0001c0004t0001g0145 a0001c0011t0001g0068 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0023 a0002c0003t0001g0029 a0002c0003t0001g0037 a0002c0003t0001g0041 a0002c0003t0001g0049 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0121 a0002c0003t0001g0156 a0002c0003t0001g0160 a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0022 a0003c0002t0001g0039 a0003c0002t0001g0040 a0003c0002t0001g0044 a0003c0002t0001g0076 a0003c0002t0001g0080 a0003c0002t0001g0084 a0003c0002t0001g0086 a0003c0002t0001g0093 a0004c0005t0001g0056 a0004c0005t0001g0164 a0004c0005t0001g0165 a0005c0008t0001g0038 a0007c0016t0001g0085 a0011c0017t0001g0104 a0013c0015t0001g0091	154	398	0.3869	95	c.53 others(106): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AAAATTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(88): Show AAAAAAAATTTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCA TCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02809.hp2 HG03209.hp1 others(1): Show HG01243.hp1 HG02809.hp2 HG03209.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0030 a0002c0003t0001g0154 a0002c0003t0001g0155	4	398	0.0101	95	c.53 others(106): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGATGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AAAATTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153756	A A	AAAAAAAT others(88): Show AAAAAAATTTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCAC CTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG02145.hp1 others(12): Show HG00735.hp2 HG00741.hp1 HG02145.hp1 HG02523.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0050 a0002c0003t0001g0108 others(5): Show a0002c0003t0001g0009 a0002c0003t0001g0050 a0002c0003t0001g0108 a0002c0003t0001g0119 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0158 a0002c0003t0001g0159	15	398	0.0377	95	c.53 others(106): Show c.5305_*5306insAAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTC TCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAA AAAAATTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4908		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153764	T T	TTTTTTTT others(88): Show TTTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCACCTGGACAG CAGAGACTCCATCTCAAAAAAAAAAAAAAAGGAAATTTAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	95	c.52 others(106): Show c.5297_*5298insTTTTTTTTAAATTTCCTTTTTTTTTTTTTTTGAG ATGGAGTCTCTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAG GTTTAAAAAAA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4900		chr19	TogoVar
DNAH10_chr12_123757301_123940714	123908121	T T	TCTGTCTC others(88): Show TCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCC CTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	170	0.0059	95	c.981 others(114): Show c.9816-1103_9816-1102insTCTGTCTCCTCCCTGTCTCCCTGTCT CCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTC TCTGTCTCCTCCCTGTCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(88): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	95	c.29 others(106): Show c.2939_*2940insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATAT ATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DOP1B_chr21_36151824_36299274	36161122	T T	TTACTGTT others(88): Show TTACTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	292	0.0034	95	c.-26 others(112): Show c.-26-3569_-26-3568insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC TACTGTTGTTTTTTTTT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89634769	T T	TCCCTTCC others(88): Show TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	250	0.0040	95	c.105 others(112): Show c.105-1129_105-1128insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634818	C C	CCCTTCCT others(88): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	250	0.0040	95	c.105 others(112): Show c.105-1088_105-1087insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(88): Show TTATATATATATAAATATATATTATATATATATAATATATATTATATATA TATAAATATATATTAATATATATAAATATATATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01952.hp1 others(2): Show HG00280.hp1 HG00323.hp2 HG01952.hp1 NA19066.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0034 a0001c0001t0002 a0001c0001t0018 a0001c0001t0034	a0001c0001t0002g0001 a0001c0001t0002g0069 a0001c0001t0018g0076 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0069 a0001c0001t0018g0076 a0001c0001t0034g0001 a0001c0001t0034g0063	5	360	0.0139	95	c.-17 others(106): Show c.-1789_-1788insTATATATATATAAATATATATTATATATATATAA TATATATTATATATATATAAATATATATTAATATATATAAATATATATTA TATATATATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1049		chr1	TogoVar
DR1_chr1_93340907_93374493	93344858	T T	TATATATA others(88): Show TATATATATATAATATATATTATATATATATAATATATATTATATATATA TATAAATATATATTATATATATATATAAATATATATTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0053 a0001c0001t0119g0053	1	360	0.0028	95	c.-17 others(106): Show c.-1788_-1787insATATATATATAATATATATTATATATATATAATA TATATTATATATATATATAAATATATATTATATATATATATAAATATATA TTATATATATA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1048		chr1	TogoVar
DR1_chr1_93340907_93374493	93344877	A A	ATTATATA others(88): Show ATTATATATATATAATATATATTATATATATATAAATATATATTAATATA TATAAATATATATTATATATATATAATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA20752.hp2 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0095 a0001c0001t0002 a0001c0001t0095	a0001c0001t0002g0041 a0001c0001t0095g0029 a0001c0001t0002g0041 a0001c0001t0095g0029	2	360	0.0056	95	c.-17 others(106): Show c.-1769_-1768insTTATATATATATAATATATATTATATATATATAA ATATATATTAATATATATAAATATATATTATATATATATAATATATATAT ATATATATTTT	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1029		chr1	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(88): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	95	c.-49 others(106): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(88): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	95	c.-49 others(106): Show c.-4989_-4988insAGAAGAAGAAGAAAGAAGAAGAAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DYSF_chr2_71448561_71691763	71662936	A A	ATGTGTGT others(88): Show ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(78): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp1 NA18994.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0009 a0015 a0019 a0022 a0023 a0026 a0029	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0030 a0001c0054 a0001c0057 a0001c0058 a0001c0075 a0001c0076 a0001c0077 a0001c0081 a0001c0084 a0002c0021 a0002c0023 a0002c0068 a0002c0071 a0003c0042 a0003c0043 a0005c0040 a0005c0061 a0006c0029 a0009c0062 a0015c0036 a0019c0033 a0022c0035 a0023c0070 a0026c0064 a0029c0082	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0002 a0001c0007t0002 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0002 a0001c0030t0001 a0001c0054t0001 a0001c0057t0002 a0001c0058t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0081t0001 a0001c0084t0001 a0002c0021t0001 a0002c0023t0001 a0002c0023t0002 a0002c0068t0001 a0002c0071t0001 a0003c0042t0001 a0003c0043t0001 a0005c0040t0002 a0005c0061t0002 a0006c0029t0001 a0009c0062t0001 a0015c0036t0001 a0019c0033t0001 a0022c0035t0001 a0023c0070t0001 a0026c0064t0001 a0029c0082t0001	a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0069 others(78): Show a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0161 a0001c0002t0002g0151 a0001c0002t0002g0159 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0181 a0001c0003t0001g0066 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0001g0105 a0001c0003t0001g0117 a0001c0003t0001g0123 a0001c0003t0001g0157 a0001c0005t0001g0029 a0001c0005t0001g0056 a0001c0005t0001g0136 a0001c0005t0002g0146 a0001c0005t0002g0152 a0001c0006t0002g0153 a0001c0006t0002g0170 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0011t0001g0075 a0001c0012t0001g0071 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0017t0001g0034 a0001c0018t0001g0137 a0001c0019t0001g0044 a0001c0019t0002g0165 a0001c0030t0001g0081 a0001c0054t0001g0040 a0001c0057t0002g0158 a0001c0058t0001g0107 a0001c0075t0001g0134 a0001c0076t0001g0055 a0001c0077t0001g0120 a0001c0081t0001g0010 a0001c0084t0001g0031 a0002c0021t0001g0086 a0002c0021t0001g0090 a0002c0023t0001g0072 a0002c0023t0002g0017 a0002c0068t0001g0038 a0002c0071t0001g0150 a0003c0042t0001g0067 a0003c0043t0001g0030 a0005c0040t0002g0013 a0005c0061t0002g0143 a0006c0029t0001g0104 a0009c0062t0001g0128 a0015c0036t0001g0118 a0019c0033t0001g0064 a0022c0035t0001g0051 a0023c0070t0001g0189 a0026c0064t0001g0036 a0029c0082t0001g0101	81	192	0.4219	95	c.488 others(114): Show c.4887-1321_4887-1227dupTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71662991	T T	TGTGTGTG others(88): Show TGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTGTGTGTGT GTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCTGCATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0054 a0001c0024t0001g0054	1	192	0.0052	95	c.488 others(114): Show c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATACGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71663040	T T	TGTGTGCA others(88): Show TGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCTGCATATGTG TGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp1 HG03209.hp2 others(1): Show HG00735.hp1 HG02615.hp1 HG03209.hp2 NA19043.hp1	a0001 a0013 a0001 a0013	a0001c0026 a0001c0041 a0013c0078 a0001c0026 a0001c0041 a0013c0078	a0001c0026t0001 a0001c0041t0002 a0013c0078t0001 a0001c0026t0001 a0001c0041t0002 a0013c0078t0001	a0001c0026t0001g0048 a0001c0026t0001g0049 a0001c0041t0002g0144 others(1): Show a0001c0026t0001g0048 a0001c0026t0001g0049 a0001c0041t0002g0144 a0013c0078t0001g0190	4	192	0.0208	95	c.488 others(114): Show c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGCG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71662936	A A	ATGTGTGT others(88): Show ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp2 others(83): Show HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18979.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0016 a0020 a0024 a0026 a0028 a0032	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0031 a0001c0057 a0001c0058 a0001c0080 a0001c0081 a0001c0082 a0001c0087 a0001c0090 a0002c0021 a0002c0023 a0002c0071 a0002c0076 a0003c0043 a0003c0044 a0005c0034 a0005c0035 a0006c0064 a0006c0077 a0008c0030 a0010c0065 a0016c0038 a0020c0036 a0024c0073 a0026c0049 a0028c0067 a0032c0088	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0002 a0001c0007t0004 a0001c0008t0001 a0001c0009t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0002 a0001c0017t0001 a0001c0018t0001 a0001c0019t0002 a0001c0031t0001 a0001c0057t0002 a0001c0058t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0087t0001 a0001c0090t0001 a0002c0021t0001 a0002c0021t0002 a0002c0023t0001 a0002c0071t0001 a0002c0076t0001 a0003c0043t0001 a0003c0044t0001 a0005c0034t0002 a0005c0035t0001 a0006c0064t0001 a0006c0077t0004 a0008c0030t0001 a0010c0065t0001 a0016c0038t0001 a0020c0036t0001 a0024c0073t0001 a0026c0049t0001 a0028c0067t0001 a0032c0088t0001	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0078 others(83): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0194 a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0002g0156 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0003t0001g0014 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0055 a0001c0003t0001g0076 a0001c0003t0001g0098 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0002g0161 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0087 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0006t0002g0151 a0001c0006t0002g0176 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0008t0001g0126 a0001c0009t0001g0053 a0001c0013t0002g0186 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0017t0001g0101 a0001c0017t0001g0133 a0001c0018t0001g0088 a0001c0019t0002g0171 a0001c0019t0002g0187 a0001c0031t0001g0120 a0001c0057t0002g0162 a0001c0058t0001g0009 a0001c0080t0001g0068 a0001c0081t0001g0086 a0001c0082t0001g0018 a0001c0087t0001g0198 a0001c0090t0001g0024 a0002c0021t0001g0042 a0002c0021t0002g0149 a0002c0023t0001g0036 a0002c0023t0001g0123 a0002c0071t0001g0079 a0002c0076t0001g0138 a0003c0043t0001g0116 a0003c0044t0001g0023 a0005c0034t0002g0153 a0005c0035t0001g0122 a0006c0064t0001g0140 a0006c0077t0004g0019 a0008c0030t0001g0016 a0010c0065t0001g0058 a0016c0038t0001g0015 a0020c0036t0001g0115 a0024c0073t0001g0144 a0026c0049t0001g0104 a0028c0067t0001g0075 a0032c0088t0001g0090	86	208	0.4135	95	c.500 others(114): Show c.5004-1321_5004-1227dupTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71662991	T T	TGTGTGTG others(88): Show TGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTGTGTGTGT GTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCTGCATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0085 a0001c0024t0001g0085	1	208	0.0048	95	c.500 others(114): Show c.5004-1227_5004-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATACGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71663040	T T	TGTGTGCA others(88): Show TGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCTGCATATGTG TGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp1 HG03209.hp2 others(1): Show HG00735.hp1 HG02615.hp1 HG03209.hp2 NA19043.hp1	a0001 a0014 a0001 a0014	a0001c0026 a0001c0042 a0014c0083 a0001c0026 a0001c0042 a0014c0083	a0001c0026t0001 a0001c0042t0001 a0014c0083t0002 a0001c0026t0001 a0001c0042t0001 a0014c0083t0002	a0001c0026t0001g0095 a0001c0026t0001g0097 a0001c0042t0001g0141 others(1): Show a0001c0026t0001g0095 a0001c0026t0001g0097 a0001c0042t0001g0141 a0014c0083t0002g0150	4	208	0.0192	95	c.500 others(114): Show c.5004-1227_5004-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGCG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EBI3_chr19_4224523_4242528	4228508	G G	GTCTCTGT others(88): Show GTCTCTGTCTCTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTC TGTGTCCTCCTCTCATCTGTCTCTCTGACTCTCTCATCTTTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA19081.hp1 HG01192.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	2	438	0.0046	95	c.-10 others(106): Show c.-1043_-1042insTCTCTGTCTCTGTCTCTGTCATCTCCCTGTCTCT CTATCCCTCTATCTCTGTGTCCTCCTCTCATCTGTCTCTCTGACTCTCTC ATCTTTGTCTC	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		1014		chr19	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(88): Show GGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGG CGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18964.hp1 NA18977.hp1 others(4): Show NA18942.hp2 NA18964.hp1 NA18977.hp1 NA18982.hp2 NA19007.hp2 NA19057.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0161	7	420	0.0167	95	c.-26 others(104): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCG TGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCG GGGCGTGCC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
EFCAB6_chr22_43523778_43817305	43675337	T T	TAGTATAG others(88): Show TAGTATAGTATAATTATAGTATATAATTATACTATATTATACTATAATAT ATACTATATATTATATACTATATATATATATATACTATAGTATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01257.hp2 others(2): Show HG01074.hp1 HG01099.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0145 others(2): Show a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147	5	290	0.0172	95	c.141 others(114): Show c.1419+2658_1419+2659insTATATACTATAGTATATATATATATA TAGTATATAATATATAGTATATATTATAGTATAATATAGTATAATTATAT ACTATAATTATACTATACT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	13/31			chr22	TogoVar
EGFLAM_chr5_38253559_38470480	38396045	T T	TTCACTGT others(88): Show TTCACTGTACCCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02622.hp2 others(11): Show HG01884.hp1 HG02109.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0012 a0020 a0021	a0001c0001 a0001c0010 a0002c0009 others(6): Show a0001c0001 a0001c0010 a0002c0009 a0003c0008 a0004c0031 a0004c0033 a0012c0016 a0020c0038 a0021c0030	a0001c0001t0001 a0001c0010t0001 a0001c0010t0006 others(9): Show a0001c0001t0001 a0001c0010t0001 a0001c0010t0006 a0002c0009t0001 a0002c0009t0003 a0003c0008t0002 a0003c0008t0010 a0004c0031t0013 a0004c0033t0003 a0012c0016t0015 a0020c0038t0009 a0021c0030t0001	a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0010t0001g0089 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0010t0001g0089 a0001c0010t0001g0108 a0001c0010t0006g0098 a0002c0009t0001g0074 a0002c0009t0003g0071 a0003c0008t0002g0152 a0003c0008t0010g0132 a0004c0031t0013g0157 a0004c0033t0003g0161 a0012c0016t0015g0133 a0020c0038t0009g0096 a0021c0030t0001g0019	14	190	0.0737	95	c.713 others(114): Show c.713-10063_713-10062insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGG CTCACTGTACCCACTCTTT	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
ELF2_chr4_139052265_139182218	139151026	A A	AACAAGAA others(88): Show AACAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	342	0.0029	95	c.-25 others(116): Show c.-251-11530_-251-11529insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTGT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083995	A A	ATATGATA others(88): Show ATATGATATATATAACATATATATGATATATAACATATATATGATATATA TCATATATATAACATATATGTGATATATATGATATATATATAACAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	338	0.0030	95	c.221 others(114): Show c.221+21501_221+21502insATGTTATATATATATCATATATATCA CATATATGTTATATATATGATATATATCATATATATGTTATATATCATAT ATATGTTATATATATCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ENTR1_chr9_136396922_136415614	136403327	G G	GAGAAAGG others(88): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	412	0.0024	95	c.120 others(112): Show c.1209-441_1209-440insTCCCCCGGCAAACCCCACCCCTTGCTCC CTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTG GGACCCTGTCCCTTTCT	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403390	C C	CCCAGGGA others(88): Show CCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTCC CAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	412	0.0024	95	c.120 others(112): Show c.1209-504_1209-503insAACCCTGTCCCTTTCTCCCCCGGCAAAC CCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCCGGCAAACCC CACCCCTTGCTCCCTGG	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(88): Show CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCC CGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02895.hp2 others(2): Show HG02257.hp2 HG02280.hp1 HG02895.hp2 HG03041.hp1 NA19240.hp2	a0044 a0048 a0123 others(2): Show a0044 a0048 a0123 a0126 a0148	a0044c0038 a0048c0312 a0123c0237 others(2): Show a0044c0038 a0048c0312 a0123c0237 a0126c0309 a0148c0292	a0044c0038t0004 a0048c0312t0001 a0123c0237t0021 others(2): Show a0044c0038t0004 a0048c0312t0001 a0123c0237t0021 a0126c0309t0001 a0148c0292t0004	a0044c0038t0004g0051 a0048c0312t0001g0053 a0123c0237t0021g0052 others(2): Show a0044c0038t0004g0051 a0048c0312t0001g0053 a0123c0237t0021g0052 a0126c0309t0001g0050 a0148c0292t0004g0049	5	424	0.0118	95	c.-46 others(108): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG GTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTG CGGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
ERBB4_chr2_211370717_212543802	212373950	T T	TCCATATA others(88): Show TCCATATATATATCCATATATATCCATATATATATATCCATATATATCCA TATATATATATCCATATATATCCATATATATATATCCATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	56	0.0179	95	c.82+ others(114): Show c.82+164498_82+164499insGATATATATGGATATATATATATGGA TATATATGGATATATATATATGGATATATATGGATATATATATATGGATA TATATGGATATATATATGG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373951	C C	CCATATAT others(88): Show CCATATATATCCATATATATATCCATATATATATCCATATATATCCATAT ATATATATCCATATATATCCATATATATATATCCATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	56	0.0179	95	c.82+ others(114): Show c.82+164497_82+164498insATGGATATATATGGATATATATATAT GGATATATATGGATATATATATATGGATATATATGGATATATATATGGAT ATATATATGGATATATATG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	56040597	A A	ATATGTAT others(88): Show ATATGTATACATATACATGTATATGTATACATATACATATACATGTATAT GTATACATACATATATATCTATATATGTATATATAATATATAGATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	74	0.0135	95	c.164 others(116): Show c.1642-21567_1642-21566insCATCTATATATTATATATACATAT ATAGATATATATGTATGTATACATATACATGTATATGTATATGTATACAT ATACATGTATATGTATACATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERICH1_chr8_659200_736224	696086	T T	TTCCTCTC others(88): Show TTCCTCTCCATCAGCCTGCACCTGTGCTCGCTCCTCTCACCCTCCACTCC TCTCCTTCCTCCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0237 a0002c0005t0001g0237	1	378	0.0027	95	c.170 others(112): Show c.170-3475_170-3474insGTGGAGGGTGAGAGGAGCGAGTGCAGGC TGATGGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAGCACAGGTG CAGGCTGATGGAGAGGA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERN1_chr17_64034142_64135144	64035086	G G	GAATCCTA others(88): Show GAATCCTAAGCATAAGTTACTCATTCAAACAATTTTAGAAGTTTAAATTT AAAAAGAGTCCAGCCTGAGGACTGCTGCACTTCAGTAAGTGAGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0166 a0001c0002t0008g0166	1	234	0.0043	95	c.89 others(106): Show c.8901_*8902insAAACTCACTTACTGAAGTGCAGCAGTCCTCAGGC TGGACTCTTTTTAAATTTAAACTTCTAAAATTGTTTGAATGAGTAACTTA TGCTTAGGATT	ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding		4055		chr17	TogoVar
ERP44_chr9_99974185_100104000	100100920	A A	ATTATATA others(88): Show ATTATATATGCATATATAATATATATTATATATGCATATATAATATATAT TATATATGTATATATAATATATATTATATGTATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	220	0.0046	95	c.-20 others(106): Show c.-2081_-2080insATATATATTATATATACATATAATATATATTATA TATACATATATAATATATATTATATATGCATATATAATATATATTATATA TGCATATATAA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1921		chr9	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(88): Show TTATATATATATTATTTTATATGCATATAAAATATTATTTTATATGCATA TAAAATAATATATATATATTATTTTATATGCATATAAAATAATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0099 a0001c0003t0002g0099	1	250	0.0040	95	c.643 others(112): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATATTATTT TATATGCATATAAAATAATATATATATATTATTTTATATGCATATAAAAT AATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ETFA_chr15_76210353_76316469	76230514	C C	CCGCGCCC others(88): Show CCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTACTCAGGCTGGAGTGCAGTGACGCAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0115 a0001c0001t0003g0103 a0001c0001t0003g0115	2	336	0.0060	95	c.882 others(110): Show c.882+818_882+819insATTGCGTCACTGCACTCCAGCCTGAGTAAC AGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGGCCGGGCGCG	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	10/11			chr15	TogoVar
F10_chr13_113117799_113154529	113151454	T T	TGAGCAGC others(88): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0370 a0001c0002t0001g0370	1	412	0.0024	95	c.19 others(106): Show c.1937_*1938insGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACC CTGAGGACCGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
F10_chr13_113117799_113154529	113151492	A A	AAAGTGAT others(88): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02809.hp1 HG02132.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0231 a0001c0002t0001g0058 a0001c0002t0001g0231	2	412	0.0049	95	c.19 others(106): Show c.1975_*1976insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1964		chr13	TogoVar
F10_chr13_113117799_113154529	113151587	A A	AAAGTGAT others(88): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01952.hp1 HG02132.hp2 others(13): Show HG00639.hp1 HG01952.hp1 HG02132.hp2 HG02135.hp1 HG03834.hp1 HG04115.hp1 NA18952.hp2 NA18956.hp1 NA18961.hp2 NA18969.hp1 NA18972.hp1 NA18975.hp2 NA18988.hp1 NA18991.hp1 NA19004.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0050 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0237 a0001c0002t0001g0133 a0001c0002t0001g0232 a0001c0002t0001g0328 a0001c0002t0001g0342 a0001c0002t0001g0344 a0001c0002t0001g0365	16	412	0.0388	95	c.20 others(106): Show c.2070_*2071insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2059		chr13	TogoVar
F10_chr13_113117799_113154529	113151676	A A	ATGGGAGA others(88): Show ATGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAG ACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA19043.hp1 HG02818.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0057 a0002c0008t0001g0280 a0001c0001t0001g0057 a0002c0008t0001g0280	2	412	0.0049	95	c.21 others(106): Show c.2159_*2160insTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGA GAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTG GGGAGCGAAGG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2148		chr13	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(88): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0015 a0002c0003 a0005c0018 a0005c0019 a0007c0016 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0015t0001 a0002c0003t0001 a0005c0018t0001 a0005c0019t0001 a0007c0016t0001 a0009c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(168): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0371 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0002g0132 a0001c0001t0002g0154 a0001c0001t0002g0310 a0001c0002t0001g0003 a0001c0002t0001g0102 a0001c0002t0001g0160 a0001c0002t0001g0170 a0001c0002t0001g0313 a0001c0002t0001g0338 a0001c0002t0001g0369 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0298 a0001c0006t0001g0290 a0001c0006t0001g0302 a0001c0006t0001g0303 a0001c0015t0001g0128 a0002c0003t0001g0002 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0281 a0002c0003t0001g0366 a0002c0003t0001g0367 a0005c0018t0001g0300 a0005c0019t0001g0363 a0007c0016t0001g0056 a0009c0013t0001g0189	186	412	0.4515	95	c.21 others(106): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
F10_chr13_113117799_113154529	113151727	C C	CCCTGAGG others(88): Show CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGA GAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01891.hp2 HG02165.hp2 others(22): Show HG00597.hp1 HG01891.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19010.hp2 NA19058.hp1 NA19065.hp1 NA19070.hp2 NA19083.hp1 NA19091.hp1 NA19091.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0001 a0012c0020t0001 a0001c0001t0001 a0012c0020t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0019 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0315 a0001c0001t0001g0316 a0012c0020t0001g0127	25	412	0.0607	95	c.22 others(106): Show c.2210_*2211insCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGG GGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGAA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2199		chr13	TogoVar
F10_chr13_113117799_113154529	113151727	C C	CCCTGAGG others(88): Show CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGA GAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	412	0.0024	95	c.22 others(106): Show c.2210_*2211insCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGG GGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2199		chr13	TogoVar
F10_chr13_113117799_113154529	113154227	G G	GGCGGGGC others(88): Show GGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGG CGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	412	0.0024	95	c.47 others(106): Show c.4710_*4711insGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGC AGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGG GGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4699		chr13	TogoVar
F5_chr1_169506951_169591481	169554159	T T	TGACCTCC others(88): Show TGACCTCCCTACCCTCCCTGAATTTTTAATAGAAAGTACATTCACGTAAT TTTTATTACAGAGAAAACTCTCACTTTTCTCTGATAACCCTCAATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02559.hp1 HG02602.hp2 others(3): Show HG00733.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02818.hp1 NA21309.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0002c0019 a0003c0018 others(2): Show a0002c0003 a0002c0019 a0003c0018 a0003c0022 a0005c0006	a0002c0003t0001 a0002c0003t0004 a0002c0019t0001 others(3): Show a0002c0003t0001 a0002c0003t0004 a0002c0019t0001 a0003c0018t0003 a0003c0022t0004 a0005c0006t0001	a0002c0003t0001g0220 a0002c0003t0004g0275 a0002c0019t0001g0284 others(3): Show a0002c0003t0001g0220 a0002c0003t0004g0275 a0002c0019t0001g0284 a0003c0018t0003g0091 a0003c0022t0004g0256 a0005c0006t0001g0294	6	306	0.0196	95	c.111 others(114): Show c.1118+1022_1118+1023insCATTGAGGGTTATCAGAGAAAAGTGA GAGTTTTCTCTGTAATAAAAATTACGTGAATGTACTTTCTATTAAAAATT CAGGGAGGGTAGGGAGGTC	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	7/24			chr1	TogoVar
F5_chr1_169506951_169591481	169554159	T T	TGACCTCC others(88): Show TGACCTCCCTACCCTCCCTGAATTTTTAATAGAAAGTACATTCACGTAAT TTTTATTACAGTGAAAACTCTCACTTTTCTCTGATAACCCTCAATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0051 a0004c0051	a0004c0051t0003 a0004c0051t0003	a0004c0051t0003g0279 a0004c0051t0003g0279	1	306	0.0033	95	c.111 others(114): Show c.1118+1022_1118+1023insCATTGAGGGTTATCAGAGAAAAGTGA GAGTTTTCACTGTAATAAAAATTACGTGAATGTACTTTCTATTAAAAATT CAGGGAGGGTAGGGAGGTC	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	7/24			chr1	TogoVar
F5_chr1_169506951_169591481	169554162	C C	CCTCCCTA others(88): Show CCTCCCTACCCTCCCTGAATTTTTAATAGAAAGTACATTCACGTAATTTT TATTACAGAGAAAACTCTCACTTTTCTCTGATAACCCTCAATGGAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0003 a0011c0036t0003	a0011c0036t0003g0049 a0011c0036t0003g0049	1	306	0.0033	95	c.111 others(114): Show c.1118+1019_1118+1020insATCCATTGAGGGTTATCAGAGAAAAG TGAGAGTTTTCTCTGTAATAAAAATTACGTGAATGTACTTTCTATTAAAA ATTCAGGGAGGGTAGGGAG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	7/24			chr1	TogoVar

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