Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EGFL6_chrX_13564601_13638575	13573754	TTTGATTT others(23): Show TTTGATTTGGTCTTCTGCTCTAAGACCAGTG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02451.hp1 HG02622.hp1 others(9): Show HG02293.hp1 HG02451.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03516.hp1 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0002c0003 a0005c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0001 a0001c0008t0001 a0002c0003t0005 a0002c0003t0006 a0005c0012t0001	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0049 others(9): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0005t0001g0055 a0001c0008t0001g0056 a0002c0003t0005g0048 a0002c0003t0005g0052 a0002c0003t0005g0053 a0002c0003t0006g0043 a0005c0012t0001g0054	12	300	0.0400	-30	c.74+ others(45): Show c.74+3823_74+3852delATTTGGTCTTCTGCTCTAAGACCAGTGTTG		EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL6_chrX_13564601_13638575	13577296	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(182): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0012	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0017 a0001c0018 a0002c0002 a0002c0003 a0003c0006 a0004c0010 a0008c0015 a0012c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0005t0001 a0001c0005t0002 a0001c0007t0003 a0001c0017t0003 a0001c0018t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0003c0006t0002 a0003c0006t0004 a0003c0006t0006 a0004c0010t0003 a0008c0015t0007 a0012c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0060 others(178): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0250 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0130 a0001c0001t0003g0162 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0179 a0001c0001t0003g0212 a0001c0001t0003g0294 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0295 a0001c0001t0009g0214 a0001c0001t0010g0097 a0001c0004t0001g0069 a0001c0004t0001g0196 a0001c0004t0002g0132 a0001c0004t0002g0133 a0001c0004t0002g0134 a0001c0004t0003g0004 a0001c0004t0003g0064 a0001c0004t0004g0059 a0001c0004t0008g0015 a0001c0005t0001g0160 a0001c0005t0002g0127 a0001c0007t0003g0101 a0001c0007t0003g0177 a0001c0007t0003g0178 a0001c0017t0003g0078 a0001c0018t0002g0067 a0002c0002t0004g0095 a0002c0002t0004g0207 a0002c0002t0004g0213 a0002c0002t0004g0215 a0002c0002t0005g0020 a0002c0002t0005g0080 a0002c0002t0005g0166 a0002c0002t0005g0167 a0002c0002t0006g0104 a0002c0002t0006g0106 a0002c0002t0006g0135 a0002c0002t0006g0146 a0002c0002t0006g0156 a0002c0002t0007g0018 a0002c0002t0007g0019 a0002c0002t0007g0022 a0002c0003t0004g0158 a0002c0003t0004g0159 a0002c0003t0004g0164 a0002c0003t0005g0081 a0002c0003t0007g0011 a0003c0006t0002g0129 a0003c0006t0002g0138 a0003c0006t0004g0291 a0003c0006t0006g0005 a0004c0010t0003g0090 a0008c0015t0007g0010 a0012c0022t0001g0038	185	269	0.6877	-30	c.74+ others(45): Show c.74+7363_74+7392delTTATATATATATATATATATATATATATAT		EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
EGLN1_chr1_231358756_231427287	231359054	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG02886.hp1 others(6): Show HG02451.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp2 NA18954.hp1 NA18956.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(6): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0009g0192 a0001c0001t0010g0073 a0001c0001t0012g0104 a0001c0001t0012g0153 a0001c0001t0021g0063	9	34	0.2647	-30	c.73 others(41): Show c.7327_*7356delTATATATATATATATATATATATATATATA		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding					4701		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231424127	CTAATACT others(23): Show CTAATACTTCTTAGGCTTCCTTTTGCTATAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	336	0.0030	-30	c.-22 others(41): Show c.-2269_-2240delCTATAGCAAAAGGAAGCCTAAGAAGTATTA		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding					1841		chr1	TogoVar
EHMT1_chr9_137614005_137841127	137795412	CACACACA others(23): Show CACACACACACACACACTCTCACACTCACAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0072 a0001c0005t0001g0072	1	168	0.0060	-30	c.250 others(49): Show c.2506-3391_2506-3362delCACACACTCTCACACTCACATACACA CACA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	16/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02886.hp2 others(5): Show HG01891.hp2 HG02630.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03225.hp2 HG06807.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0026 a0002c0002 a0002c0004 a0003c0026	a0002c0002t0003 a0002c0004t0003 a0002c0004t0005 others(1): Show a0002c0002t0003 a0002c0004t0003 a0002c0004t0005 a0003c0026t0001	a0002c0002t0003g0161 a0002c0002t0003g0334 a0002c0002t0003g0335 others(5): Show a0002c0002t0003g0161 a0002c0002t0003g0334 a0002c0002t0003g0335 a0002c0004t0003g0036 a0002c0004t0003g0038 a0002c0004t0003g0039 a0002c0004t0005g0037 a0003c0026t0001g0011	8	157	0.0510	-30	c.406 others(47): Show c.4065+283_4065+312delATATATATATATATATATATATATATAT AT		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B3_chr1_44845522_44991595	44972260	CACACACA others(23): Show CACACACATATACACACACAAACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00639.hp2 others(73): Show HG00323.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02486.hp2 HG02559.hp1 HG02698.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18971.hp1 NA18972.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18988.hp2 NA19000.hp1 NA19009.hp2 NA19043.hp2 NA19058.hp1 NA19068.hp2 NA19077.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0006 a0006c0007 a0001c0002 a0002c0006 a0006c0007	a0001c0002t0001 a0001c0002t0004 a0002c0006t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0002c0006t0001 a0006c0007t0001	a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 others(73): Show a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0004g0184 a0002c0006t0001g0219 a0006c0007t0001g0166	76	320	0.2375	-30	c.294 others(47): Show c.294+6025_294+6054delATGTGTGTGTTTGTGTGTGTATATGTGT GT		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF3A_chr10_119028670_119085817	119042184	CCCTCGCC others(23): Show CCCTCGCCTGGGACCCCGGTCATCATCCATG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02040.hp2 HG02451.hp2 HG02630.hp2 others(1): Show HG02040.hp2 HG02451.hp2 HG02630.hp2 HG03225.hp2	a0004 a0004	a0004c0007 a0004c0014 a0004c0007 a0004c0014	a0004c0007t0012 a0004c0007t0021 a0004c0014t0018 a0004c0007t0012 a0004c0007t0021 a0004c0014t0018	a0004c0007t0012g0328 a0004c0007t0012g0329 a0004c0007t0021g0025 others(1): Show a0004c0007t0012g0328 a0004c0007t0012g0329 a0004c0007t0021g0025 a0004c0014t0018g0241	4	348	0.0115	-30	c.330 others(39): Show c.3306_3335delCATGGATGATGACCGGGGTCCCAGGCGAGG	p.Met others(15): Show p.Met1103_Gly1112del	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	19/22	3476/6659	3306/4149	1102/1382			chr10	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01516.hp2 others(7): Show HG01070.hp1 HG01071.hp2 HG01516.hp2 HG01517.hp2 HG02698.hp2 HG03130.hp1 HG03579.hp2 HG03831.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0004t0001 a0001c0004t0004 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0004 a0001c0007t0001	a0001c0002t0001g0002 a0001c0004t0001g0005 a0001c0004t0004g0014 others(1): Show a0001c0002t0001g0002 a0001c0004t0001g0005 a0001c0004t0004g0014 a0001c0007t0001g0005	10	314	0.0318	-30	c.-10 others(40): Show c.-1004_-975delTATATATATATATATATATATATATATATA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571880	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	429	0.0023	-30	c.-96 others(39): Show c.-961_-932delATATATATATATATATATATATATATATAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					944		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571882	TATATATA others(23): Show TATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01169.hp2 others(14): Show HG00642.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG04115.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA19007.hp1 NA19012.hp1 NA19062.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0002g0001	17	434	0.0392	-30	c.-95 others(39): Show c.-959_-930delATATATATATATATATATATATATATAAAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					942		chr17	TogoVar
EIF4G3_chr1_20801479_21181897	20943970	TTTTTTGT others(23): Show TTTTTTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19091.hp2 HG03130.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0019 a0001c0001t0023g0299 a0001c0001t0002g0019 a0001c0001t0023g0299	2	142	0.0141	-30	c.824 others(47): Show c.824-1670_824-1641delCACACACACACACACACACACACACAAA AA		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36						chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	87045294	AAGACACA others(23): Show AAGACACATGCACACGTATGTTTATTGCGGC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	194	0.0052	-30	c.189 others(49): Show c.189+14001_189+14030delGCCGCAATAAACATACGTGTGCATGT GTCT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21						chr7	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01496.hp2 others(10): Show HG00438.hp1 HG01106.hp1 HG01496.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG03486.hp1 HG03669.hp2 HG03927.hp2 NA18952.hp1 NA18966.hp1 NA18983.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0050 a0001c0001t0001g0165 a0001c0001t0001g0169 others(10): Show a0001c0001t0001g0050 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0303 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0340 a0001c0001t0003g0152 a0001c0001t0003g0264 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0017g0299	13	14	0.9286	-30	c.-15 others(49): Show c.-15-17760_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23796948	TAACTATA others(23): Show TAACTATAAAGAATGAGGACAGGGACAATGG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0307 a0001c0001t0004g0307	1	350	0.0029	-30	c.-16 others(49): Show c.-16+28828_-16+28857delCCATTGTCCCTGTCCTCATTCTTTAT AGTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11465265	TACACCAC others(23): Show TACACCACACACATACACACACACACACCAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	286	0.0035	-30	c.333 others(45): Show c.333+877_333+906delGTGGTGTGTGTGTGTGTATGTGTGTGGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELF1_chr13_40926924_41024316	40953976	CAAAGACT others(23): Show CAAAGACTGTAGCCTTACCCTAAGGCTTTAA	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	360	0.0028	-30	c.254 others(47): Show c.254-2570_254-2541delTTAAAGCCTTAGGGTAAGGCTACAGTCT TT		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8						chr13	TogoVar
ELL2_chr5_95880098_95966851	95927688	CGTGTGTA others(23): Show CGTGTGTATATAGACATACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19086.hp1 HG01978.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0214 a0001c0001t0002g0215	2	102	0.0196	-30	c.196 others(47): Show c.196-8173_196-8144delATATGTGTGTGTGTATGTCTATATACAC AC		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11						chr5	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(23): Show GCACATACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02622.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0174 a0001c0005t0007g0175	2	162	0.0123	-30	c.135 others(49): Show c.135+12298_135+12327delTGTGTGTGTGTGTGTGTGTGTGTGTA TGTG		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11						chr19	TogoVar
ELMO1_chr7_36847906_37453864	37188425	CACACACA others(23): Show CACACACACACACACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	90	0.0111	-30	c.108 others(51): Show c.1086+22931_1086+22960delTTGCGTGTGTGTGTGTGTGTGTGT GTGTGT		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21						chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	102	0.0098	-30	c.-11 others(41): Show c.-1162_-1133delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding					814		chr11	TogoVar
ELOVL7_chr5_60746791_60849269	60802089	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01258.hp2 others(3): Show HG01109.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127	6	255	0.0235	-30	c.-85 others(47): Show c.-85-2889_-85-2860delGTATATATATATATATATATATATATAT AT		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	GGGAGAGG others(23): Show GGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04228.hp1 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0032 a0001c0001t0017g0035 a0001c0001t0007g0032 a0001c0001t0017g0035	2	218	0.0092	-30	c.-85 others(49): Show c.-85-19899_-85-19870delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(69): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02647.hp1 HG02809.hp1 HG02922.hp2 HG03209.hp2 HG03486.hp1 HG04184.hp2 NA18941.hp1 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp2 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0272 a0001c0001t0004g0003 a0001c0001t0004g0009 others(62): Show a0001c0001t0001g0272 a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0261 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0220 a0001c0001t0005g0237 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0271 a0001c0001t0005g0276 a0001c0001t0006g0221 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0007g0148 a0001c0001t0016g0009 a0001c0001t0018g0030 a0001c0001t0019g0266	72	81	0.8889	-30	c.617 others(47): Show c.617+6427_617+6456delATATATATATATATATATATATATATAT AT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	CTTCTATT others(23): Show CTTCTATTCTATTCTATTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp2 HG02055.hp2 others(1): Show HG01070.hp1 HG01884.hp2 HG02055.hp2 HG02622.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0005 a0001c0001 a0004c0004 a0006c0005	a0001c0001t0002 a0004c0004t0002 a0006c0005t0004 a0001c0001t0002 a0004c0004t0002 a0006c0005t0004	a0001c0001t0002g0122 a0004c0004t0002g0126 a0006c0005t0004g0123 others(1): Show a0001c0001t0002g0122 a0004c0004t0002g0126 a0006c0005t0004g0123 a0006c0005t0004g0124	4	48	0.0833	-30	c.-17 others(47): Show c.-17-4720_-17-4691delATTCTATTCTATTCTATTCTATTCTATT CT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50488545	TGGGTGGG others(23): Show TGGGTGGGGGAGAGGGTGTTGGGGGAGAAGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0002 a0001c0001t0134g0002	1	350	0.0029	-30	c.63 others(41): Show c.6302_*6331delTGTTGGGGGAGAAGAGGGTGGGGGAGAGGG		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7				6302	INFO_REALIGN_3_PRIME	chr19	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02896.hp2 others(3): Show HG02486.hp1 HG02615.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0028 a0001c0001t0038 others(2): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0038 a0002c0002t0016 a0003c0003t0036	a0001c0001t0002g0161 a0001c0001t0028g0175 a0001c0001t0038g0211 others(3): Show a0001c0001t0002g0161 a0001c0001t0028g0175 a0001c0001t0038g0211 a0002c0002t0016g0110 a0002c0002t0016g0111 a0003c0003t0036g0160	6	8	0.7500	-30	c.376 others(47): Show c.376+6225_376+6254delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11						chr4	TogoVar
EML1_chr14_99788413_99947060	99919398	CCACACAC others(23): Show CCACACACACACATACGCATGCACACAGACA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19005.hp2 HG02155.hp1 NA19005.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0003 a0003c0002t0001 a0003c0002t0003	a0003c0002t0001g0154 a0003c0002t0003g0155 a0003c0002t0001g0154 a0003c0002t0003g0155	2	279	0.0072	-30	c.182 others(49): Show c.1821-1378_1821-1349delTACGCATGCACACAGACACACACACA CACA		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42226424	CCGAGGCG others(23): Show CCGAGGCGGGCGGATCATGAGGTCAGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00609.hp1 others(56): Show HG00099.hp2 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01123.hp1 HG01192.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02622.hp1 HG03225.hp2 HG03579.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp2 NA19089.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0003c0003t0003 a0004c0004t0003 a0009c0013t0003	a0001c0001t0002g0121 a0001c0001t0003g0118 a0001c0001t0003g0119 others(56): Show a0001c0001t0002g0121 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0003g0354 a0001c0001t0006g0127 a0001c0001t0011g0148 a0001c0001t0011g0149 a0001c0001t0011g0184 a0001c0001t0015g0154 a0001c0001t0018g0175 a0003c0003t0003g0185 a0004c0004t0003g0138 a0004c0004t0003g0141 a0004c0004t0003g0142 a0004c0004t0003g0143 a0004c0004t0003g0144 a0009c0013t0003g0153	59	356	0.1657	-30	c.26- others(47): Show c.26-19076_26-19047delGCGGGCGGATCATGAGGTCAGGAGATCG AG		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796734	ATATATTA others(23): Show ATATATTATATATATTATATGTTTTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18973.hp1 HG00438.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0248 a0002c0002t0001g0249	2	330	0.0061	-30	c.-42 others(41): Show c.-4261_-4232delATATATAAAACATATAATATATATAATATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3782		chr14	TogoVar
EML5_chr14_88607431_88797953	88796741	ATATATAT others(23): Show ATATATATTATATGTTTTATATATTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03490.hp1 HG03492.hp2 others(5): Show HG03225.hp1 HG03490.hp1 HG03492.hp2 HG04115.hp1 NA18951.hp1 NA18957.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0010 a0001c0001 a0002c0002 a0011c0010	a0001c0001t0002 a0001c0001t0003 a0002c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0003 a0011c0010t0003	a0001c0001t0002g0096 a0001c0001t0002g0136 a0001c0001t0002g0167 others(5): Show a0001c0001t0002g0096 a0001c0001t0002g0136 a0001c0001t0002g0167 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0054 a0002c0002t0003g0093 a0011c0010t0003g0080	8	269	0.0297	-30	c.-42 others(41): Show c.-4268_-4239delATATATAATATATAAAACATATAATATATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3789		chr14	TogoVar
EML5_chr14_88607431_88797953	88796780	TTATATGT others(23): Show TTATATGTTATATATATTATATATTATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	330	0.0030	-30	c.-43 others(41): Show c.-4307_-4278delGTATATAATATATAATATATATAACATATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3828		chr14	TogoVar
ENDOV_chr17_80410167_80443086	80421578	CGGACCAG others(23): Show CGGACCAGGTCCTGGGGGGGTCTGCTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	418	0.0024	-30	c.229 others(45): Show c.229-238_229-209delTGGGGGGGTCTGCTCCTATGGACCAGGTCC		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	2	0.5000	-30	c.594 others(47): Show c.594+1769_594+1798delTATATATATATATATATATATATATATA TA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENOSF1_chr18_665318_717630	666888	GGGAGATG others(23): Show GGGAGATGGTGATGGAGATGGTGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01257.hp2 HG01258.hp1 HG00280.hp2 HG01257.hp2 HG01258.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0313 a0004c0008t0001g0352 a0004c0008t0001g0353 a0001c0001t0001g0313 a0004c0008t0001g0352 a0004c0008t0001g0353	3	385	0.0078	-30	c.73 others(41): Show c.7387_*7416delATCACCATCACCATCTCCATCACCATCTCC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3429		chr18	TogoVar
ENOSF1_chr18_665318_717630	666933	TGATGGAG others(23): Show TGATGGAGATGGTGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02109.hp2 NA19057.hp1 others(1): Show HG02004.hp1 HG02109.hp2 NA19057.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0003c0007 a0001c0006 a0003c0004 a0003c0007	a0001c0006t0004 a0003c0004t0003 a0003c0007t0003 a0001c0006t0004 a0003c0004t0003 a0003c0007t0003	a0001c0006t0004g0304 a0003c0004t0003g0371 a0003c0007t0003g0344 others(1): Show a0001c0006t0004g0304 a0003c0004t0003g0371 a0003c0007t0003g0344 a0003c0007t0003g0373	4	328	0.0122	-30	c.73 others(41): Show c.7342_*7371delTCCATCTCCATCACCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3384		chr18	TogoVar
ENOSF1_chr18_665318_717630	666957	AGATGGAG others(23): Show AGATGGAGATGGTGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	297	0.0034	-30	c.73 others(41): Show c.7318_*7347delACCATCTCCATCTCCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3360		chr18	TogoVar
ENOSF1_chr18_665318_717630	667029	TGATGGAG others(23): Show TGATGGAGATGGTGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0093 a0002c0002t0009g0093	1	372	0.0027	-30	c.72 others(41): Show c.7246_*7275delTCCATCTCCATCACCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3288		chr18	TogoVar
ENOSF1_chr18_665318_717630	667346	AGATGGTG others(23): Show AGATGGTGATGGTGATGGAGATGGTGATGGT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	275	0.0036	-30	c.69 others(41): Show c.6930_*6959delCCATCACCATCTCCATCACCATCACCATCT		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2972		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02273.hp1 HG02523.hp2 others(4): Show HG02080.hp1 HG02273.hp1 HG02523.hp2 HG02572.hp2 HG03486.hp1 NA18999.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0030 a0001c0010t0006	a0001c0001t0002g0022 a0001c0001t0002g0059 a0001c0001t0002g0082 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0059 a0001c0001t0002g0082 a0001c0001t0006g0141 a0001c0001t0010g0129 a0001c0001t0030g0150 a0001c0010t0006g0161	7	144	0.0486	-30	c.161 others(51): Show c.1612-11120_1612-11091delATATATATATATATATATATATAT ATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02055.hp2 HG02109.hp1 others(5): Show HG01074.hp2 HG02055.hp2 HG02109.hp1 HG02486.hp1 HG02717.hp1 HG03041.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 a0001c0002t0006 a0001c0003t0011	a0001c0001t0003g0118 a0001c0001t0005g0168 a0001c0001t0005g0170 others(5): Show a0001c0001t0003g0118 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0032g0167 a0001c0002t0006g0169 a0001c0003t0011g0171	8	48	0.1667	-30	c.-42 others(41): Show c.-4246_-4217delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3612		chr13	TogoVar
ENSA_chr1_150617125_150634612	150631286	TGAACCTA others(23): Show TGAACCTAACCAAGAGAGTCTGTGACAATGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	-30	c.-18 others(41): Show c.-1846_-1817delCCATTGTCACAGACTCTCTTGGTTAGGTTC		ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding					1675		chr1	TogoVar
ENTHD1_chr22_39738044_39898760	39768987	CACACACT others(23): Show CACACACTAACTTGTGTATATGTACATATAT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	215	0.0047	-30	c.833 others(47): Show c.833-3408_833-3379delATATATGTACATATACACAAGTTAGTGT GT		ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6						chr22	TogoVar
ENTREP2_chr15_29115252_29575979	29219614	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0035 a0002c0004t0003 a0002c0003t0035 a0002c0004t0003	a0002c0003t0035g0104 a0002c0004t0003g0111 a0002c0003t0035g0104 a0002c0004t0003g0111	2	39	0.0513	-30	c.388 others(49): Show c.388-23080_388-23051delATATATATATATATATATATATATAT ATAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10						chr15	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01516.hp2 others(2): Show HG01106.hp1 HG01109.hp1 HG01516.hp2 HG01517.hp1 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 others(2): Show a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0002c0003t0002g0150	5	189	0.0265	-30	c.387 others(47): Show c.3875-842_3875-813delTATATATATATATATATATATATATATA TA		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EPAS1_chr2_46292407_46391697	46362953	AGTGGTGG others(23): Show AGTGGTGGTGGTGGTGGTGGTGGTAGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	316	0.0032	-30	c.779 others(47): Show c.779+1887_779+1916delAGTGGTGGTGGTGGTGGTGGTGGTGGTG GT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365506	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	428	0.0023	-30	c.-39 others(41): Show c.-3999_-3970delTATATATATATATATATATATATATATATT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3804		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365508	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02145.hp1 NA18959.hp1 HG02129.hp2 HG02145.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0176 a0001c0001t0001g0320 a0001c0001t0001g0002 a0001c0001t0001g0176 a0001c0001t0001g0320	3	377	0.0080	-30	c.-39 others(41): Show c.-3997_-3968delTATATATATATATATATATATATATATTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3802		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365510	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG02040.hp2 others(1): Show HG01074.hp2 HG01255.hp2 HG02040.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0008t0001g0057	4	408	0.0098	-30	c.-39 others(41): Show c.-3995_-3966delTATATATATATATATATATATATATTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3800		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG03209.hp2 others(2): Show HG02723.hp2 HG03041.hp1 HG03209.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0330 a0001c0001t0001g0331 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333	5	414	0.0121	-30	c.-39 others(41): Show c.-3993_-3964delTATATATATATATATATATATATTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3798		chr2	TogoVar

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