Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1628644	GTCTGACT others(45): Show GTCTGACTTACTGTGGAGCAGGAATTAAGAGCCTGAGCTGACCTCACATT CTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02895.hp1 others(2): Show HG02258.hp1 HG02258.hp2 HG02895.hp1 HG03486.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0005 a0001c0003t0001 a0001c0003t0006 a0002c0001t0005	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 others(2): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0002c0001t0005g0028 a0002c0001t0005g0035	5	40	0.1250	-52	c.159 others(71): Show c.1590+1831_1590+1882delAATTAAGAGCCTGAGCTGACCTCACA TTCTCTCTGACTTACTGTGGAGCAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33009287	TGTGTATA others(45): Show TGTGTATATGTGTATATACACATGTGTGTATATGTGTATATGTGTATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0122 a0002c0012t0002g0122	1	126	0.0079	-52	c.93+ others(69): Show c.93+10800_93+10851delGTGTATATACACATATACACATATACAC ACATGTGTATATACACATATACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	746324	TCATGCCC others(45): Show TCATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACC CAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00558.hp2 others(136): Show HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0010 a0016	a0001c0001 a0001c0019 a0002c0002 others(5): Show a0001c0001 a0001c0019 a0002c0002 a0003c0003 a0005c0007 a0006c0028 a0010c0015 a0016c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0019t0004 a0002c0002t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0005c0007t0003 a0006c0028t0004 a0010c0015t0003 a0016c0027t0003	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 others(117): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0335 a0001c0001t0003g0320 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0237 a0001c0001t0006g0068 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0104 a0001c0019t0004g0173 a0002c0002t0001g0029 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0110 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0153 a0003c0003t0003g0156 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0188 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0003t0003g0193 a0003c0003t0003g0214 a0003c0003t0004g0109 a0003c0003t0007g0101 a0003c0003t0007g0102 a0003c0003t0007g0160 a0003c0003t0007g0161 a0003c0003t0007g0231 a0003c0003t0007g0232 a0003c0003t0008g0100 a0003c0003t0008g0154 a0003c0003t0008g0155 a0003c0003t0008g0180 a0005c0007t0003g0142 a0006c0028t0004g0172 a0010c0015t0003g0181 a0016c0027t0003g0141	139	378	0.3677	-52	c.102 others(71): Show c.1024+4975_1024+5026delCCTGTGACGCCCTCCTTACCGTCCTG CTGCCCCCCACCCAACATGCCCAGGG	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	746441	CTGTGACG others(45): Show CTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGG GTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01934.hp2 others(1): Show HG00323.hp1 HG00642.hp1 HG01934.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0005 a0002c0002t0001 a0003c0005t0005	a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0262 others(1): Show a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0262 a0003c0005t0005g0290	4	378	0.0106	-52	c.102 others(71): Show c.1024+5002_1024+5053delTGCCCCCCACCCAACATGCCCAGGGT TTGTGACGCCCTCCTTACCGTCCTGC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF6_chrX_107201611_107249247	107204793	ATTATTTA others(45): Show ATTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAAT TAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02257.hp2 others(10): Show HG01109.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0112 a0001c0001t0001g0113 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125	13	296	0.0439	-52	c.-19 others(63): Show c.-1900_-1849delTTATTTAAATAAATTTTAAATAAATTATTTAAAT AAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1817		chrX	TogoVar
DNAH14_chr1_224924675_225404286	225078791	TCTCTCTC others(45): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTC TCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02015.hp1 others(13): Show HG00642.hp2 HG01081.hp1 HG02015.hp1 HG02071.hp2 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG03017.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18955.hp2 NA18974.hp2 NA19056.hp2 NA19084.hp1	a0001 a0005 a0018 others(8): Show a0001 a0005 a0018 a0033 a0034 a0073 a0074 a0075 a0082 a0088 a0091	a0001c0001 a0005c0005 a0005c0031 others(9): Show a0001c0001 a0005c0005 a0005c0031 a0018c0017 a0033c0030 a0034c0101 a0073c0118 a0074c0117 a0075c0116 a0082c0093 a0088c0111 a0091c0107	a0001c0001t0001 a0005c0005t0001 a0005c0031t0001 others(9): Show a0001c0001t0001 a0005c0005t0001 a0005c0031t0001 a0018c0017t0001 a0033c0030t0001 a0034c0101t0001 a0073c0118t0001 a0074c0117t0001 a0075c0116t0001 a0082c0093t0001 a0088c0111t0001 a0091c0107t0001	a0001c0001t0001g0167 a0001c0001t0001g0182 a0005c0005t0001g0150 others(13): Show a0001c0001t0001g0167 a0001c0001t0001g0182 a0005c0005t0001g0150 a0005c0005t0001g0238 a0005c0031t0001g0145 a0005c0031t0001g0146 a0018c0017t0001g0111 a0033c0030t0001g0236 a0033c0030t0001g0237 a0034c0101t0001g0203 a0073c0118t0001g0192 a0074c0117t0001g0191 a0075c0116t0001g0190 a0082c0093t0001g0188 a0088c0111t0001g0184 a0091c0107t0001g0175	16	240	0.0667	-52	c.242 others(69): Show c.2425-400_2425-349delTCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTCTCTCCCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335569	ATATACGC others(45): Show ATATACGCATATGTGCATATATGTATATACGCATACGTATATGTGTATAT ACG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01261.hp2 others(26): Show HG00639.hp2 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp2 HG03491.hp2 HG06807.hp1 NA18522.hp2 NA18999.hp1 NA19056.hp2 NA20300.hp2	a0007 a0010 a0017 others(13): Show a0007 a0010 a0017 a0022 a0024 a0033 a0035 a0045 a0064 a0069 a0078 a0079 a0080 a0095 a0100 a0111	a0007c0009 a0007c0048 a0010c0010 others(16): Show a0007c0009 a0007c0048 a0010c0010 a0017c0015 a0022c0023 a0024c0054 a0024c0056 a0033c0030 a0035c0036 a0035c0086 a0045c0076 a0064c0049 a0069c0078 a0078c0089 a0079c0091 a0080c0090 a0095c0105 a0100c0088 a0111c0119	a0007c0009t0001 a0007c0048t0001 a0010c0010t0001 others(16): Show a0007c0009t0001 a0007c0048t0001 a0010c0010t0001 a0017c0015t0001 a0022c0023t0001 a0024c0054t0001 a0024c0056t0001 a0033c0030t0001 a0035c0036t0001 a0035c0086t0001 a0045c0076t0001 a0064c0049t0001 a0069c0078t0001 a0078c0089t0001 a0079c0091t0001 a0080c0090t0001 a0095c0105t0001 a0100c0088t0001 a0111c0119t0001	a0007c0009t0001g0004 a0007c0009t0001g0005 a0007c0009t0001g0006 others(26): Show a0007c0009t0001g0004 a0007c0009t0001g0005 a0007c0009t0001g0006 a0007c0009t0001g0016 a0007c0048t0001g0008 a0010c0010t0001g0030 a0010c0010t0001g0031 a0010c0010t0001g0032 a0010c0010t0001g0033 a0017c0015t0001g0085 a0017c0015t0001g0086 a0017c0015t0001g0087 a0022c0023t0001g0040 a0022c0023t0001g0077 a0024c0054t0001g0222 a0024c0056t0001g0224 a0033c0030t0001g0236 a0033c0030t0001g0237 a0035c0036t0001g0100 a0035c0086t0001g0098 a0045c0076t0001g0001 a0064c0049t0001g0096 a0069c0078t0001g0219 a0078c0089t0001g0027 a0079c0091t0001g0029 a0080c0090t0001g0026 a0095c0105t0001g0128 a0100c0088t0001g0028 a0111c0119t0001g0240	29	240	0.1208	-52	c.100 others(73): Show c.10081-1696_10081-1645delTATACGCATATGTGCATATATGTA TATACGCATACGTATATGTGTATATACG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85			chr1	TogoVar
DNAH7_chr2_195732703_196073837	195982157	AAAAAGTG others(45): Show AAAAAGTGGGCAAATTATCTGAATAGATATTTTTCAAAAGACATACAAAT GGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0094 a0003c0004t0003g0094	1	256	0.0039	-52	c.183 others(71): Show c.1833+2423_1833+2474delGCCATTTGTATGTCTTTTGAAAAATA TCTATTCAGATAATTTGCCCACTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	15/64			chr2	TogoVar
DNAI2_chr17_74269234_74319884	74301862	AGAAGGAA others(45): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18747.hp2 NA18944.hp1 others(2): Show HG04184.hp2 NA18747.hp2 NA18944.hp1 NA18952.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0002g0388	5	398	0.0126	-52	c.987 others(67): Show c.987+742_987+793delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301914	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	398	0.0025	-52	c.987 others(67): Show c.987+794_987+845delGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301962	GGAAAGAA others(45): Show GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19056.hp2 HG03225.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0002 a0001c0001t0001 a0002c0011t0002	a0001c0001t0001g0111 a0002c0011t0002g0387 a0001c0001t0001g0111 a0002c0011t0002g0387	2	398	0.0050	-52	c.987 others(67): Show c.987+798_987+849delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74319753	CCGTCTCA others(45): Show CCGTCTCAAAAAAAAAAAAAAAAATCATTGCTACTTGGAGATGGTCACCG ATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0168 a0005c0009t0001g0168	1	398	0.0025	-52	c.52 others(63): Show c.5221_*5272delCGTCTCAAAAAAAAAAAAAAAAATCATTGCTACT TGGAGATGGTCACCGATG	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding		4870		chr17	TogoVar
DNAJC12_chr10_67791669_67843188	67819687	AAAGAAAG others(45): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGGAAGGAAGGA AGG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	384	0.0026	-52	c.157 others(69): Show c.157+3575_157+3626delCCTTCCTTCCTTCCTTCCTTGCTTCCTT CCTTCCTTCCTTCCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC18_chr5_139405203_139444525	139436269	TAGAGATA others(45): Show TAGAGATAATGTATTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGTC TCA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0205	1	314	0.0032	-52	c.227 others(69): Show c.227+1051_227+1102delTGAGACCAGGAGTTTGAGACCAGCCTGG GCAACACAGCAATACATTATCTCT	DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding	2/7			chr5	TogoVar
DOCK4_chr7_111721110_112211399	112066670	CATATACA others(45): Show CATATACATATATACATATACATATATATATATATATATATATATATATA TAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	106	0.0094	-52	c.38- others(69): Show c.38-62591_38-62540delATATATATATATATATATATATATATAT ATATGTATATGTATATATGTATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOK7_chr4_3458306_3499482	3476221	GCCCCGCC others(45): Show GCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTC TCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(71): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp1 HG03579.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18966.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0016 a0021	a0001c0001 a0001c0012 a0002c0002 others(7): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0005c0024 a0006c0006 a0009c0010 a0016c0025 a0021c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0012t0003 a0002c0002t0001 a0003c0003t0004 a0003c0003t0029 a0004c0004t0006 a0005c0024t0008 a0006c0006t0002 a0009c0010t0001 a0016c0025t0003 a0021c0021t0003	a0001c0001t0002g0201 a0001c0001t0002g0293 a0001c0001t0003g0003 others(63): Show a0001c0001t0002g0201 a0001c0001t0002g0293 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0089 a0001c0001t0003g0160 a0001c0001t0003g0182 a0001c0001t0003g0196 a0001c0001t0003g0202 a0001c0001t0003g0216 a0001c0001t0003g0242 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0302 a0001c0001t0003g0308 a0001c0001t0003g0321 a0001c0001t0003g0324 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0337 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0023g0332 a0001c0012t0003g0014 a0002c0002t0001g0041 a0002c0002t0001g0210 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0345 a0003c0003t0004g0289 a0003c0003t0004g0323 a0003c0003t0004g0331 a0003c0003t0004g0335 a0003c0003t0029g0156 a0004c0004t0006g0292 a0005c0024t0008g0282 a0006c0006t0002g0203 a0006c0006t0002g0254 a0006c0006t0002g0280 a0006c0006t0002g0281 a0006c0006t0002g0283 a0006c0006t0002g0310 a0006c0006t0002g0320 a0009c0010t0001g0340 a0016c0025t0003g0355 a0021c0021t0003g0351	74	404	0.1832	-52	c.332 others(66): Show c.332-116_332-65delGCCTGCCCGTGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCTCACCCC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 NA18906.hp2 NA18973.hp1 HG02145.hp2 NA18906.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0099 a0001c0001t0056 a0001c0001t0099	a0001c0001t0056g0123 a0001c0001t0056g0132 a0001c0001t0099g0065 a0001c0001t0056g0123 a0001c0001t0056g0132 a0001c0001t0099g0065	3	426	0.0070	-52	c.65 others(61): Show c.651_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	651		chr21	TogoVar
DPAGT1_chr11_119091510_119106853	119100144	CCTTATCT others(45): Show CCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCC CAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	422	0.0024	-52	c.643 others(66): Show c.643+66_643+117delTTGGGAAATTCAGGGGAAAAAAGCAATATGC ATAGTAATTATAGAAGATAAG	DPAGT1	ENSG00000172269.20	transcript	ENST00000354202.9	protein_coding	4/8			chr11	TogoVar
DPP9_chr19_4670227_4728842	4672234	CATATATA others(45): Show CATATATATGAATATATATTCATATATATGAATATATATATTAATATATT CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	314	0.0032	-52	c.42 others(63): Show c.4278_*4329delATGAATATATTAATATATATATTCATATATATGA ATATATATTCATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2992		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672286	TATATATA others(45): Show TATATATATACTTATATTCATATATTCATATATATACTTATATTCATATA TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	314	0.0032	-52	c.42 others(63): Show c.4226_*4277delGAATATATGAATATAAGTATATATATGAATATAT GAATATAAGTATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2940		chr19	TogoVar
DRC7_chr16_57689806_57736805	57729109	GATGGATG others(45): Show GATGGATGAGTGGGTGGGTAGATGGATGAATGGATGGATGGGTGGATGGA TGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(161): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0006 a0009 a0011 a0012 a0015 a0019 a0020 a0021 a0023 a0025 a0026	a0002c0002 a0002c0012 a0002c0045 others(23): Show a0002c0002 a0002c0012 a0002c0045 a0003c0003 a0003c0017 a0003c0034 a0003c0035 a0004c0005 a0004c0015 a0004c0016 a0004c0018 a0004c0041 a0004c0043 a0006c0008 a0006c0010 a0009c0009 a0009c0020 a0011c0013 a0012c0044 a0015c0039 a0019c0026 a0020c0027 a0021c0029 a0023c0033 a0025c0031 a0026c0036	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(29): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0012t0002 a0002c0045t0002 a0003c0003t0001 a0003c0003t0006 a0003c0017t0001 a0003c0034t0001 a0003c0035t0001 a0004c0005t0001 a0004c0005t0003 a0004c0015t0001 a0004c0016t0001 a0004c0016t0003 a0004c0018t0001 a0004c0041t0001 a0004c0043t0001 a0006c0008t0003 a0006c0010t0003 a0009c0009t0002 a0009c0009t0004 a0009c0020t0002 a0011c0013t0001 a0012c0044t0003 a0015c0039t0001 a0019c0026t0008 a0020c0027t0001 a0021c0029t0003 a0023c0033t0001 a0025c0031t0001 a0026c0036t0001	a0002c0002t0001g0081 a0002c0002t0002g0005 a0002c0002t0002g0010 others(135): Show a0002c0002t0001g0081 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0022 a0002c0002t0002g0025 a0002c0002t0002g0090 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0143 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0155 a0002c0002t0002g0225 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0259 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0303 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0319 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0012t0002g0033 a0002c0012t0002g0308 a0002c0012t0002g0310 a0002c0045t0002g0243 a0003c0003t0001g0002 a0003c0003t0001g0009 a0003c0003t0001g0019 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0133 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0156 a0003c0003t0001g0191 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0267 a0003c0003t0001g0299 a0003c0003t0006g0321 a0003c0017t0001g0030 a0003c0034t0001g0311 a0003c0035t0001g0237 a0004c0005t0001g0017 a0004c0005t0001g0018 a0004c0005t0001g0045 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0070 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0107 a0004c0005t0001g0246 a0004c0005t0001g0279 a0004c0005t0001g0291 a0004c0005t0003g0078 a0004c0005t0003g0252 a0004c0015t0001g0069 a0004c0015t0001g0074 a0004c0015t0001g0075 a0004c0016t0001g0295 a0004c0016t0003g0289 a0004c0018t0001g0166 a0004c0018t0001g0175 a0004c0041t0001g0052 a0004c0043t0001g0298 a0006c0008t0003g0015 a0006c0008t0003g0071 a0006c0008t0003g0101 a0006c0008t0003g0104 a0006c0008t0003g0105 a0006c0008t0003g0274 a0006c0008t0003g0280 a0006c0008t0003g0293 a0006c0010t0003g0015 a0006c0010t0003g0031 a0006c0010t0003g0102 a0006c0010t0003g0207 a0006c0010t0003g0297 a0009c0009t0002g0083 a0009c0009t0002g0214 a0009c0009t0004g0014 a0009c0009t0004g0073 a0009c0009t0004g0205 a0009c0020t0002g0072 a0011c0013t0001g0036 a0011c0013t0001g0221 a0011c0013t0001g0222 a0012c0044t0003g0304 a0015c0039t0001g0160 a0019c0026t0008g0117 a0020c0027t0001g0106 a0021c0029t0003g0084 a0023c0033t0001g0235 a0025c0031t0001g0144 a0026c0036t0001g0294	164	388	0.4227	-52	c.239 others(69): Show c.2391+596_2391+647delAGATGGATGAATGGATGGATGGGTGGAT GGATGAATGGATGAGTGGGTGGGT	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57729290	ATGGATGA others(45): Show ATGGATGAGTGAGTGGGTGGATGGATGGATGAGTGGGTGGATGGATGGAT GGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0065 a0004c0005t0001g0065	1	388	0.0026	-52	c.239 others(69): Show c.2391+721_2391+772delGGTGGATGGATGGATGAGTGGGTGGATG GATGGATGGGTGGATGAGTGAGTG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUXA_chr19_57149021_57172485	57172030	GGGGGCGG others(45): Show GGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGCG CGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG03453.hp1 NA19084.hp1 HG01258.hp2 HG03453.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0002g0011 a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0002g0011	3	446	0.0067	-52	c.-46 others(63): Show c.-4639_-4588delTCGCGCGCCCCCGCCCCCTCGCACGCCCCCGCCC CCTCGCACGCCCCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4546		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172053	GGGGGCGT others(45): Show GGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGG GGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	446	0.0022	-52	c.-46 others(63): Show c.-4662_-4611delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC CGCCCCCTCGCACGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4569		chr19	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	369	0.0027	-52	c.23 others(63): Show c.2383_*2434delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EFCAB9_chr5_172189172_172208454	172189813	GAAAGGAA others(45): Show GAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAA GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02280.hp1 others(11): Show HG00639.hp1 HG01884.hp2 HG02280.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	14	408	0.0343	-52	c.-43 others(63): Show c.-4359_-4308delAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGA GAAAGGGAAAGGAAAGGA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding		4358		chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591847	TATATATA others(45): Show TATATATAATATAAAAAATATATATATAATATATAATATATATATTATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG01175.hp2 others(10): Show HG00099.hp2 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01358.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0034 a0001c0001t0044 a0001c0001t0060 a0001c0001t0067	a0001c0001t0001g0185 a0001c0001t0003g0130 a0001c0001t0003g0189 others(10): Show a0001c0001t0001g0185 a0001c0001t0003g0130 a0001c0001t0003g0189 a0001c0001t0004g0099 a0001c0001t0005g0097 a0001c0001t0017g0180 a0001c0001t0018g0110 a0001c0001t0025g0115 a0001c0001t0025g0164 a0001c0001t0034g0131 a0001c0001t0044g0082 a0001c0001t0060g0088 a0001c0001t0067g0175	13	190	0.0684	-52	c.125 others(71): Show c.125+78590_125+78641delTATATATAATATATATATTATATATT ATATATATATTTTTTATATTATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFL7_chr9_136657916_136677678	136671235	GGGCAGGC others(45): Show GGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGATGAGGCGTCGGGGGG GGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18747.hp2 NA18939.hp1 others(8): Show HG03017.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18967.hp1 NA18998.hp2 NA19007.hp2 NA19064.hp2 NA19065.hp2 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0019g0073	11	432	0.0255	-52	c.636 others(67): Show c.636+255_636+306delATGAGGCGTCGGGGGGGGAGGCAGGCAGTC CAGGGTGGACCTGCTGGAGGAG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4A1_chr17_7567825_7584006	7571860	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA AAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02148.hp1 NA20752.hp2 others(1): Show HG01192.hp2 HG02148.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	4	436	0.0092	-52	c.-98 others(61): Show c.-981_-930delATATATATATATATATATATATATATATATATATAT ATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		964		chr17	TogoVar
EIF5B_chr2_99332389_99406326	99400191	CAGTAGAG others(45): Show CAGTAGAGATTTTTATACATTAATCTTGATCTGTTTTAATCTTGATCTGT TTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG03486.hp1 HG02257.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0072 a0001c0003t0013g0073 a0001c0003t0013g0072 a0001c0003t0013g0073	2	342	0.0059	-52	c.83 others(61): Show c.830_*881delAGTAGAGATTTTTATACATTAATCTTGATCTGTTTT AATCTTGATCTGTTTT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	24/24	830	INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3218818	ACTCTAGA others(45): Show ACTCTAGAGCTTTCACAGTGAGTCAGGTGCACACCCAACATGGCCCTGAT ACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	250	0.0040	-52	c.417 others(69): Show c.417-4622_417-4571delCGTATCAGGGCCATGTTGGGTGTGCACC TGACTCACTGTGAAAGCTCTAGAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELK3_chr12_96189375_96274824	96226489	GAGATGTC others(45): Show GAGATGTCCACATGTGCACACCCATGCCCACACAGATGTCCACATGTCCA CAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01952.hp2 HG01993.hp1 others(2): Show HG01070.hp1 HG01952.hp2 HG01993.hp1 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 others(2): Show a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019	5	354	0.0141	-52	c.207 others(69): Show c.207+2748_207+2799delCAGATGTCCACATGTCCACACAGATGTC CACATGTGCACACCCATGCCCACA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
EMID1_chr22_29200896_29264597	29239873	CATCAACC others(45): Show CATCAACCTCCCAAGCAGCTGGGACTACAGGCGCCTGCCACCACACCCAG CTA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00642.hp2 others(57): Show HG00438.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19081.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0002 a0003c0003 a0004c0004 others(1): Show a0001c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0002t0002 a0003c0003t0001 a0003c0003t0002 others(6): Show a0001c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0005c0006t0003	a0001c0002t0002g0192 a0003c0003t0001g0028 a0003c0003t0001g0210 others(56): Show a0001c0002t0002g0192 a0003c0003t0001g0028 a0003c0003t0001g0210 a0003c0003t0001g0226 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0002g0040 a0003c0003t0002g0085 a0003c0003t0002g0321 a0003c0003t0003g0004 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0058 a0003c0003t0003g0067 a0003c0003t0003g0084 a0003c0003t0003g0086 a0003c0003t0003g0088 a0003c0003t0003g0139 a0003c0003t0003g0168 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0205 a0003c0003t0003g0208 a0003c0003t0003g0222 a0003c0003t0003g0224 a0003c0003t0003g0260 a0003c0003t0003g0292 a0003c0003t0003g0298 a0003c0003t0005g0282 a0003c0003t0005g0283 a0003c0003t0005g0322 a0003c0003t0005g0324 a0004c0004t0001g0057 a0004c0004t0001g0213 a0004c0004t0002g0119 a0004c0004t0002g0145 a0004c0004t0002g0323 a0004c0004t0003g0071 a0004c0004t0003g0081 a0004c0004t0003g0082 a0004c0004t0003g0083 a0004c0004t0003g0103 a0004c0004t0003g0104 a0004c0004t0003g0113 a0004c0004t0003g0114 a0004c0004t0003g0118 a0004c0004t0003g0132 a0004c0004t0003g0172 a0004c0004t0003g0185 a0004c0004t0003g0209 a0004c0004t0003g0215 a0004c0004t0003g0216 a0004c0004t0003g0221 a0004c0004t0003g0306 a0005c0006t0003g0066	60	348	0.1724	-52	c.107 others(71): Show c.1075-3537_1075-3486delTGCCACCACACCCAGCTAATCAACCT CCCAAGCAGCTGGGACTACAGGCGCC	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMP1_chr12_13191726_13224941	13220496	GAGGGAAC others(45): Show GAGGGAACCACCCTCATGATCCAATCACCTTCCACGGGGTCCCTCCCTCA ACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	444	0.0023	-52	c.58 others(63): Show c.5806_*5857delAGGGAACCACCCTCATGATCCAATCACCTTCCAC GGGGTCCCTCCCTCAACA	EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding		556		chr12	TogoVar
EMP3_chr19_48320552_48335553	48334432	TTCTTTCT others(45): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(136): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18971.hp1 NA18982.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(23): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0003g0009 a0001c0001t0007g0028	139	376	0.3697	-52	c.39 others(63): Show c.3963_*4014delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTC	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3880		chr19	TogoVar
ENTPD8_chr9_137429364_137446357	137436339	GGCCGGAT others(45): Show GGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCGCCCTCCCC GGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02015.hp2 HG02027.hp2 others(20): Show HG00544.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp1 HG02132.hp2 HG03831.hp2 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA19002.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0012 a0001c0001t0002 a0003c0003t0002 a0003c0003t0012	a0001c0001t0002g0004 a0001c0001t0002g0064 a0001c0001t0002g0076 others(7): Show a0001c0001t0002g0004 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0104 a0003c0003t0002g0069 a0003c0003t0012g0075	23	392	0.0587	-52	c.787 others(66): Show c.787-115_787-64delACCGGGGAGGGCGCACAGGGTATGGGCGCGG GGCTGGCGTGGGTCATCCGGC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137436391	TGCCGGAT others(45): Show TGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCCCCCTCCCC GGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03669.hp1 homoSapiens_chm13v2.hp1 HG00280.hp2 HG03669.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0072 a0001c0001t0001g0038 a0001c0001t0001g0072	3	392	0.0077	-52	c.786 others(66): Show c.786+78_787-116delCCCGGGGAGGGGGCACAGGGTATGGGCGCGG GGCTGGCGTGGGTCATCCGGC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
EP300_chr22_41087592_41185077	41169168	ATGTGAAA others(45): Show ATGTGAAAATATATCATACAAATCGGGTGGGAATTTCTTTTCTCCAAAAA TAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0171 a0002c0003t0001g0171	1	300	0.0033	-52	c.417 others(69): Show c.4172+303_4173-282delGTGAAAATATATCATACAAATCGGGTGG GAATTTCTTTTCTCCAAAAATAGT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	131946143	AGTGGTGC others(45): Show AGTGGTGCGATCATAGTTCAGTACAGCCTCCACCTCCTGGGATCAAGCTA TCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	208	0.0048	-52	c.-39 others(63): Show c.-3928_-3877delGTGGTGCGATCATAGTTCAGTACAGCCTCCACCT CCTGGGATCAAGCTATCC	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		3798		chr12	TogoVar
EPHA8_chr1_22558489_22608595	22599684	AAGGAAAG others(45): Show AAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGGAGGGAGGGAAGGA AGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	342	0.0029	-52	c.238 others(69): Show c.2388+641_2388+692delAAAGGAGGGAGGGAGGAAGGAGGGAAGG AAGGGAGGGAGGGAAGGAAGGAGG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERC1_chr12_986223_1500931	1122223	ATCTCTAT others(45): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0138 a0002c0002t0070g0138	1	162	0.0062	-52	c.156 others(71): Show c.1569+6192_1569+6243delCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56207103	TATTTTAG others(45): Show TATTTTAGAGACTCTAATATGTTTGCTGTGGGCATCTTTATGATAATATT ATG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03834.hp2 others(2): Show HG02647.hp1 HG03098.hp1 HG03834.hp2 NA18962.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0040 a0001c0001t0005g0071 a0001c0001t0007g0002 others(2): Show a0001c0001t0002g0040 a0001c0001t0005g0071 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0012g0023	5	74	0.0676	-52	c.107 others(73): Show c.1075-33635_1075-33584delCATAATATTATCATAAAGATGCCC ACAGCAAACATATTAGAGTCTCTAAAAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56348915	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG AAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0016 a0001c0002t0003g0018 a0001c0002t0002g0016 a0001c0002t0003g0018	2	74	0.0270	-52	c.658 others(71): Show c.658-52532_658-52481delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56348927	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAGGAAAG AAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	74	0.0135	-52	c.658 others(71): Show c.658-52544_658-52493delTTTCTTTCCTTCTTTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERICH1_chr8_659200_736224	699727	TCACAGGC others(45): Show TCACAGGCGCACAGACACGCACACGTGCACACTCACACAGCCGCACAGAC CCG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp1 HG02027.hp1 others(5): Show HG00423.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG03704.hp2 NA18612.hp1 NA18969.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0217	8	378	0.0212	-52	c.170 others(69): Show c.170-7167_170-7116delCGGGTCTGTGCGGCTGTGTGAGTGTGCA CGTGTGCGTGTCTGTGCGCCTGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(45): Show CTATATATATATATATATATATATATATGTATATATATATATATATATAT ATA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG01993.hp2 others(4): Show HG01433.hp1 HG01496.hp2 HG01993.hp2 HG02071.hp2 HG02897.hp2 HG04204.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0224 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0002g0345	7	442	0.0158	-52	c.58+ others(67): Show c.58+8707_58+8758delATATATATATATATATATATATATATGTAT ATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERVH48-1_chr21_42911803_42930630	42920027	TGAGGACA others(45): Show TGAGGACAAATGAGGATAGGGCAGAGACGTTGCAGGACAGGTTTGTACCC GAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0003c0003t0003 a0003c0003t0006 a0004c0004t0010 a0004c0004t0022 a0005c0005t0003	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0022 others(76): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0082 a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0004g0004 a0001c0001t0004g0027 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0017 a0001c0001t0005g0032 a0001c0001t0005g0039 a0001c0001t0005g0051 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0006g0010 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0046 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0007g0018 a0001c0001t0007g0024 a0001c0001t0007g0037 a0001c0001t0007g0057 a0001c0001t0007g0067 a0001c0001t0007g0075 a0001c0001t0008g0011 a0001c0001t0008g0085 a0001c0001t0010g0026 a0001c0001t0012g0019 a0001c0001t0012g0087 a0001c0001t0013g0023 a0001c0001t0013g0045 a0001c0001t0015g0029 a0001c0001t0017g0040 a0001c0001t0018g0093 a0001c0001t0018g0094 a0001c0001t0019g0061 a0001c0001t0020g0052 a0001c0001t0021g0076 a0001c0001t0023g0071 a0001c0001t0024g0077 a0001c0001t0025g0074 a0001c0001t0026g0066 a0001c0001t0027g0086 a0001c0001t0028g0089 a0001c0001t0029g0091 a0001c0001t0030g0092 a0003c0003t0003g0020 a0003c0003t0003g0088 a0003c0003t0006g0047 a0004c0004t0010g0025 a0004c0004t0010g0058 a0004c0004t0022g0059 a0005c0005t0003g0090	225	420	0.5357	-52	c.-28 others(69): Show c.-285-788_-285-737delGTCGGGTACAAACCTGTCCTGCAACGTC TCTGCCCTATCCTCATTTGTCCTC	ERVH48-1	ENSG00000233056.4	transcript	ENST00000447535.2	protein_coding	1/1			chr21	TogoVar
ESYT2_chr7_158725997_158834509	158729491	AGGAGCAG others(45): Show AGGAGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGCGGGAGG GTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02015.hp1 HG02155.hp1 others(4): Show HG00735.hp1 HG02015.hp1 HG02155.hp1 HG02622.hp2 HG03130.hp2 NA18954.hp1 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007	a0003c0003t0004g0018 a0003c0003t0005g0248 a0003c0003t0005g0286 others(4): Show a0003c0003t0004g0018 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0360 a0003c0003t0005g0361 a0003c0003t0007g0327 a0003c0003t0007g0337	7	370	0.0189	-52	c.46 others(63): Show c.4664_*4715delAACCCTCCCGCCTCCACGCTTGCTCCTCCCCCAC TATCTCCACACCTGCTCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1505		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158797021	GCAGGCGA others(45): Show GCAGGCGAGAGGGCAGCAGGACAGCCTCCCGACAGAGACGGGAAAAGGCA CCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01257.hp1 others(9): Show HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 others(2): Show a0001c0001 a0002c0002 a0002c0010 a0002c0022 a0002c0023	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0002c0002t0018 a0002c0010t0006 a0002c0022t0022 a0002c0023t0039	a0001c0001t0001g0180 a0002c0002t0001g0181 a0002c0002t0006g0003 others(8): Show a0001c0001t0001g0180 a0002c0002t0001g0181 a0002c0002t0006g0003 a0002c0002t0006g0177 a0002c0002t0006g0184 a0002c0002t0012g0183 a0002c0002t0018g0143 a0002c0002t0018g0144 a0002c0010t0006g0178 a0002c0022t0022g0179 a0002c0023t0039g0182	12	370	0.0324	-52	c.507 others(67): Show c.507+869_507+920delTGGTGCCTTTTCCCGTCTCTGTCGGGAGGC TGTCCTGCTGCCCTCTCGCCTG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	3/22			chr7	TogoVar
ETS1_chr11_128453765_128592558	128585090	GGAAAGAA others(45): Show GGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAAA GAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0038 a0001c0002t0009g0038	1	286	0.0035	-52	c.-15 others(69): Show c.-15+2346_-15+2397delTTCTTTTCTTTCTTTCTTCTTTCTTTCC TTCCTTCCTTCCTTTCTTTCTTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar

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