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
EPHX2_chr8_27486143_27550564	27501324	TTTCTTCT others(2): Show TTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp2 others(44): Show HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA19075.hp1 NA19085.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0013 a0015 a0019	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0002c0003 a0002c0011 a0004c0015 a0006c0016 a0013c0037 a0015c0036 a0019c0026	a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 others(10): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 a0001c0005t0003 a0001c0013t0002 a0002c0003t0003 a0002c0003t0005 a0002c0011t0001 a0004c0015t0004 a0006c0016t0001 a0013c0037t0004 a0015c0036t0002 a0019c0026t0002	a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0101 others(42): Show a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0002t0002g0012 a0001c0002t0002g0031 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0247 a0001c0002t0002g0251 a0001c0004t0003g0011 a0001c0004t0003g0035 a0001c0004t0003g0288 a0001c0004t0003g0289 a0001c0005t0003g0097 a0001c0013t0002g0233 a0002c0003t0003g0005 a0002c0003t0003g0028 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0056 a0002c0003t0003g0066 a0002c0003t0003g0069 a0002c0003t0003g0075 a0002c0003t0003g0274 a0002c0003t0005g0064 a0002c0011t0001g0201 a0002c0011t0001g0202 a0004c0015t0004g0254 a0006c0016t0001g0008 a0006c0016t0001g0160 a0013c0037t0004g0044 a0015c0036t0002g0055 a0019c0026t0002g0256	47	136	0.3456	-9	c.186 others(24): Show c.186+377_186+385delCTTCTTCTT		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPM2A_chr6_145620305_145740520	145669159	CTTAGAAA others(2): Show CTTAGAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show HG02135.hp2 HG02155.hp1 NA18963.hp2 NA19002.hp2 NA19003.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0011g0272	6	318	0.0189	-9	c.476 others(28): Show c.476+16954_476+16962delTTTTTCTAA		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3						chr6	TogoVar
EPM2A_chr6_145620305_145740520	145735101	CCGGGGCC others(2): Show CCGGGGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show HG02135.hp2 HG02155.hp1 NA18963.hp2 NA19002.hp2 NA19003.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0011g0272	6	318	0.0189	-9	c.301 others(22): Show c.301+88_301+96delCAGGCCCCG		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3						chr6	TogoVar
EPPK1_chr8_143852324_143883467	143860560	CGGCGGCG others(2): Show CGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01192.hp1 HG02300.hp1 HG02559.hp1 others(29): Show HG01192.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA18986.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0011 a0022 others(21): Show a0001 a0011 a0022 a0025 a0027 a0028 a0040 a0042 a0043 a0071 a0094 a0096 a0105 a0111 a0112 a0113 a0114 a0115 a0119 a0122 a0137 a0155 a0166 a0168	a0001c0001 a0011c0044 a0022c0120 others(22): Show a0001c0001 a0011c0044 a0022c0120 a0025c0025 a0027c0027 a0027c0057 a0028c0018 a0040c0051 a0042c0045 a0043c0043 a0071c0135 a0094c0159 a0096c0218 a0105c0126 a0111c0198 a0112c0128 a0113c0124 a0114c0058 a0115c0167 a0119c0125 a0122c0211 a0137c0223 a0155c0129 a0166c0061 a0168c0196	a0001c0001t0002 a0011c0044t0001 a0022c0120t0003 others(24): Show a0001c0001t0002 a0011c0044t0001 a0022c0120t0003 a0025c0025t0003 a0025c0025t0013 a0027c0027t0010 a0027c0057t0010 a0028c0018t0001 a0040c0051t0001 a0040c0051t0004 a0042c0045t0001 a0043c0043t0001 a0071c0135t0005 a0094c0159t0005 a0096c0218t0005 a0105c0126t0004 a0111c0198t0004 a0112c0128t0001 a0113c0124t0001 a0114c0058t0010 a0115c0167t0010 a0119c0125t0001 a0122c0211t0003 a0137c0223t0003 a0155c0129t0001 a0166c0061t0004 a0168c0196t0002	a0001c0001t0002g0100 a0011c0044t0001g0271 a0022c0120t0003g0146 others(27): Show a0001c0001t0002g0100 a0011c0044t0001g0271 a0022c0120t0003g0146 a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0027c0027t0010g0031 a0027c0057t0010g0229 a0028c0018t0001g0017 a0028c0018t0001g0128 a0040c0051t0001g0056 a0040c0051t0004g0060 a0042c0045t0001g0103 a0042c0045t0001g0125 a0043c0043t0001g0032 a0071c0135t0005g0070 a0094c0159t0005g0243 a0096c0218t0005g0248 a0105c0126t0004g0231 a0111c0198t0004g0058 a0112c0128t0001g0241 a0113c0124t0001g0126 a0114c0058t0010g0074 a0115c0167t0010g0118 a0119c0125t0001g0127 a0122c0211t0003g0182 a0137c0223t0003g0114 a0155c0129t0001g0242 a0166c0061t0004g0268 a0168c0196t0002g0106	32	422	0.0758	-9	c.126 others(20): Show c.12685_12693delACCGCCGCC	p.Thr others(15): Show p.Thr4229_Ala4231del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	12768/16005	12685/15267	4229/5088			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862162	CGGCGGCG others(2): Show CGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02165.hp1 HG02280.hp1 HG02280.hp2 others(40): Show HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18957.hp1 NA18971.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19080.hp1 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0002 a0011 a0012 others(25): Show a0002 a0011 a0012 a0022 a0025 a0027 a0029 a0031 a0033 a0039 a0040 a0042 a0090 a0094 a0096 a0098 a0106 a0107 a0109 a0111 a0112 a0114 a0115 a0122 a0137 a0144 a0155 a0170	a0002c0002 a0011c0028 a0011c0044 others(29): Show a0002c0002 a0011c0028 a0011c0044 a0011c0060 a0012c0011 a0022c0120 a0025c0025 a0027c0027 a0027c0057 a0029c0019 a0031c0052 a0033c0033 a0033c0117 a0039c0042 a0040c0051 a0042c0045 a0090c0072 a0094c0159 a0096c0218 a0098c0204 a0106c0189 a0107c0063 a0109c0212 a0111c0198 a0112c0128 a0114c0058 a0115c0167 a0122c0211 a0137c0223 a0144c0077 a0155c0129 a0170c0059	a0002c0002t0001 a0011c0028t0001 a0011c0044t0001 others(31): Show a0002c0002t0001 a0011c0028t0001 a0011c0044t0001 a0011c0060t0001 a0012c0011t0002 a0022c0120t0003 a0025c0025t0003 a0025c0025t0013 a0027c0027t0010 a0027c0057t0010 a0029c0019t0001 a0031c0052t0001 a0033c0033t0002 a0033c0117t0002 a0039c0042t0004 a0040c0051t0001 a0040c0051t0004 a0042c0045t0001 a0090c0072t0002 a0094c0159t0005 a0096c0218t0005 a0098c0204t0005 a0106c0189t0022 a0107c0063t0004 a0109c0212t0003 a0111c0198t0004 a0112c0128t0001 a0114c0058t0010 a0115c0167t0010 a0122c0211t0003 a0137c0223t0003 a0144c0077t0002 a0155c0129t0001 a0170c0059t0010	a0002c0002t0001g0059 a0011c0028t0001g0265 a0011c0028t0001g0266 others(37): Show a0002c0002t0001g0059 a0011c0028t0001g0265 a0011c0028t0001g0266 a0011c0044t0001g0271 a0011c0060t0001g0267 a0012c0011t0002g0173 a0022c0120t0003g0146 a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0027c0027t0010g0031 a0027c0057t0010g0229 a0029c0019t0001g0006 a0031c0052t0001g0062 a0031c0052t0001g0342 a0033c0033t0002g0292 a0033c0033t0002g0312 a0033c0117t0002g0339 a0039c0042t0004g0067 a0039c0042t0004g0071 a0040c0051t0001g0056 a0040c0051t0004g0060 a0042c0045t0001g0103 a0042c0045t0001g0125 a0090c0072t0002g0338 a0094c0159t0005g0243 a0096c0218t0005g0248 a0098c0204t0005g0237 a0106c0189t0022g0048 a0107c0063t0004g0270 a0109c0212t0003g0184 a0111c0198t0004g0058 a0112c0128t0001g0241 a0114c0058t0010g0074 a0115c0167t0010g0118 a0122c0211t0003g0182 a0137c0223t0003g0114 a0144c0077t0002g0291 a0155c0129t0001g0242 a0170c0059t0010g0147	43	421	0.1021	-9	c.110 others(20): Show c.11083_11091delACCGCCGCC	p.Thr others(15): Show p.Thr3695_Ala3697del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11166/16005	11083/15267	3695/5088			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(2): Show TGGCGGCGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18972.hp1 NA18974.hp1 NA19084.hp2 NA18972.hp1 NA18974.hp1 NA19084.hp2	a0047 a0161 a0047 a0161	a0047c0140 a0047c0232 a0161c0154 a0047c0140 a0047c0232 a0161c0154	a0047c0140t0003 a0047c0232t0003 a0161c0154t0003 a0047c0140t0003 a0047c0232t0003 a0161c0154t0003	a0047c0140t0003g0079 a0047c0232t0003g0078 a0161c0154t0003g0080 a0047c0140t0003g0079 a0047c0232t0003g0078 a0161c0154t0003g0080	3	264	0.0114	-9	c.110 others(20): Show c.11074_11082delGCCGCCGCC	p.Ala others(15): Show p.Ala3692_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	11074/15267	3692/5088			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	CCCGCACC others(2): Show CCCGCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00733.hp1 others(36): Show HG00423.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG02004.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18953.hp1 NA18972.hp1 NA18974.hp1 NA19009.hp2 NA19079.hp1 NA19084.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0003 a0004 a0005 others(19): Show a0003 a0004 a0005 a0006 a0007 a0010 a0020 a0026 a0036 a0037 a0045 a0047 a0053 a0075 a0076 a0101 a0110 a0131 a0143 a0161 a0169 a0171	a0003c0006 a0004c0005 a0005c0007 others(28): Show a0003c0006 a0004c0005 a0005c0007 a0006c0009 a0006c0085 a0007c0047 a0007c0048 a0007c0142 a0007c0148 a0010c0020 a0010c0137 a0010c0141 a0010c0146 a0020c0088 a0020c0112 a0026c0035 a0036c0039 a0037c0049 a0045c0034 a0047c0140 a0047c0232 a0053c0145 a0075c0151 a0076c0086 a0101c0227 a0110c0138 a0131c0147 a0143c0118 a0161c0154 a0169c0110 a0171c0150	a0003c0006t0002 a0003c0006t0006 a0004c0005t0002 others(31): Show a0003c0006t0002 a0003c0006t0006 a0004c0005t0002 a0005c0007t0003 a0005c0007t0023 a0006c0009t0002 a0006c0085t0002 a0007c0047t0001 a0007c0048t0012 a0007c0142t0001 a0007c0148t0001 a0010c0020t0002 a0010c0020t0007 a0010c0137t0014 a0010c0141t0014 a0010c0146t0002 a0020c0088t0001 a0020c0112t0001 a0026c0035t0007 a0036c0039t0007 a0037c0049t0006 a0045c0034t0002 a0047c0140t0003 a0047c0232t0003 a0053c0145t0013 a0075c0151t0002 a0076c0086t0007 a0101c0227t0002 a0110c0138t0012 a0131c0147t0002 a0143c0118t0002 a0161c0154t0003 a0169c0110t0002 a0171c0150t0003	a0003c0006t0002g0214 a0003c0006t0006g0213 a0004c0005t0002g0082 others(33): Show a0003c0006t0002g0214 a0003c0006t0006g0213 a0004c0005t0002g0082 a0005c0007t0003g0009 a0005c0007t0003g0140 a0005c0007t0023g0257 a0006c0009t0002g0105 a0006c0085t0002g0259 a0007c0047t0001g0129 a0007c0047t0001g0255 a0007c0048t0012g0018 a0007c0142t0001g0081 a0007c0148t0001g0256 a0010c0020t0002g0134 a0010c0020t0007g0135 a0010c0137t0014g0138 a0010c0141t0014g0131 a0010c0146t0002g0133 a0020c0088t0001g0087 a0020c0112t0001g0216 a0026c0035t0007g0104 a0036c0039t0007g0215 a0037c0049t0006g0091 a0045c0034t0002g0012 a0047c0140t0003g0079 a0047c0232t0003g0078 a0053c0145t0013g0132 a0075c0151t0002g0137 a0076c0086t0007g0260 a0101c0227t0002g0141 a0110c0138t0012g0139 a0131c0147t0002g0136 a0143c0118t0002g0130 a0161c0154t0003g0080 a0169c0110t0002g0090 a0171c0150t0003g0258	39	190	0.2053	-9	c.-46 others(22): Show c.-46+34_-46+42delCGGGTGCGG		EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1						chr8	TogoVar
EPS15L1_chr19_16350247_16476970	16351095	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(15): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01261.hp2 HG01496.hp2 HG02055.hp2 HG02109.hp2 HG02602.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp1 HG03540.hp2 HG04115.hp2 NA18522.hp2 NA18949.hp2 NA18955.hp2 NA18962.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0067 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264	18	208	0.0865	-9	c.46 others(20): Show c.4601_*4609delTTTTTTTTT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding					4151		chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16393077	TATAATAA others(2): Show TATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01243.hp2 others(30): Show HG00099.hp1 HG00609.hp1 HG01243.hp2 HG01496.hp2 HG02015.hp2 HG02040.hp1 HG02155.hp1 HG02293.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18949.hp2 NA18962.hp2 NA18971.hp2 NA18998.hp2 NA19030.hp2 NA19066.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0051 others(30): Show a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0004t0001g0045	33	56	0.5893	-9	c.196 others(26): Show c.1967-646_1967-638delTATTATTAT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	18/23						chr19	TogoVar
EPS15_chr1_51349263_51524266	51357392	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show HG00738.hp1 HG01516.hp1 HG01517.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 a0002c0001t0008g0123	4	137	0.0292	-9	c.254 others(26): Show c.2545-555_2545-547delATATATATA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
ERAP1_chr5_96769484_96812945	96794171	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01168.hp1 others(12): Show HG00639.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01516.hp1 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG03130.hp1	a0008 a0008	a0008c0008 a0008c0025 a0008c0008 a0008c0025	a0008c0008t0002 a0008c0008t0003 a0008c0025t0003 a0008c0008t0002 a0008c0008t0003 a0008c0025t0003	a0008c0008t0002g0051 a0008c0008t0003g0005 a0008c0008t0003g0022 others(7): Show a0008c0008t0002g0051 a0008c0008t0003g0005 a0008c0008t0003g0022 a0008c0008t0003g0053 a0008c0008t0003g0054 a0008c0008t0003g0055 a0008c0008t0003g0056 a0008c0008t0003g0206 a0008c0008t0003g0207 a0008c0025t0003g0052	15	90	0.1667	-9	c.920 others(24): Show c.920-223_920-215delAAAAAAAAA		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	5/18						chr5	TogoVar
ERAP2_chr5_96871500_96924703	96904984	TTTTTTAA others(2): Show TTTTTTAACC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01123.hp1 others(10): Show HG00642.hp1 HG00735.hp1 HG01123.hp1 HG01168.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG03239.hp2 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA20752.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0012 a0005c0006t0001g0194 a0005c0006t0001g0241 others(7): Show a0005c0006t0001g0012 a0005c0006t0001g0194 a0005c0006t0001g0241 a0005c0006t0001g0242 a0005c0006t0001g0245 a0005c0006t0001g0295 a0005c0006t0001g0296 a0005c0006t0001g0297 a0005c0006t0001g0298 a0005c0006t0001g0299	13	396	0.0328	-9	c.201 others(28): Show c.2012+1432_2012+1440delCCTTTTTAA		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERAP2_chr5_96871500_96924703	96921425	ACTTAGAA others(2): Show ACTTAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG03130.hp1 HG01243.hp2 HG02647.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0138 a0002c0002t0001g0034 a0002c0002t0001g0138	3	396	0.0076	-9	c.38 others(20): Show c.3821_*3829delCTTAGAAAG		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding					1723		chr5	TogoVar
ERBB3_chr12_56075165_56108505	56103756	AAAGCCCT others(2): Show AAAGCCCTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18945.hp1 NA18946.hp2 others(5): Show HG00423.hp2 NA18945.hp1 NA18946.hp2 NA18956.hp1 NA18966.hp1 NA18981.hp2 NA19064.hp2 NA19081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0020 a0003c0004t0008g0021 a0003c0004t0008g0150 others(3): Show a0003c0004t0008g0020 a0003c0004t0008g0021 a0003c0004t0008g0150 a0003c0004t0008g0230 a0003c0004t0008g0231 a0003c0004t0008g0237	8	390	0.0205	-9	c.17 others(20): Show c.1702_*1710delAAGCCCTAT		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding					252		chr12	TogoVar
ERBB4_chr2_211370717_212543802	211464973	TTTTTTTT others(2): Show TTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp1 others(17): Show HG01069.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02258.hp1 HG02615.hp1 HG02895.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0002t0001 a0001c0002t0013 a0001c0002t0018 a0002c0003t0001	a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0005g0015 others(17): Show a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0007g0043 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0012g0001 a0001c0001t0015g0034 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0030g0056 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0018g0010 a0002c0003t0001g0014	20	56	0.3571	-9	c.248 others(30): Show c.2488-33882_2488-33874delGAAAAAAAA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211518061	AATTCCTC others(2): Show AATTCCTCAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 NA19043.hp2 HG03225.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0001c0001t0002 a0001c0001t0005 a0001c0001t0022	a0001c0001t0002g0047 a0001c0001t0005g0044 a0001c0001t0022g0006 a0001c0001t0002g0047 a0001c0001t0005g0044 a0001c0001t0022g0006	3	56	0.0536	-9	c.248 others(30): Show c.2487+43833_2487+43841delATGAGGAAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211580897	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 a0001c0001t0004 a0001c0001t0024 a0001c0001t0027	a0001c0001t0004g0003 a0001c0001t0024g0038 a0001c0001t0027g0055 a0001c0001t0004g0003 a0001c0001t0024g0038 a0001c0001t0027g0055	3	55	0.0545	-9	c.230 others(30): Show c.2302-18818_2302-18810delATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211701756	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02717.hp1 others(7): Show HG02145.hp2 HG02258.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG03239.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0023 a0001c0001t0029 a0001c0002t0001 a0001c0002t0018 a0001c0004t0021	a0001c0001t0001g0021 a0001c0001t0003g0017 a0001c0001t0003g0040 others(7): Show a0001c0001t0001g0021 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0007g0018 a0001c0001t0023g0012 a0001c0001t0029g0054 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0018g0010 a0001c0004t0021g0009	10	19	0.5263	-9	c.148 others(26): Show c.1489+202_1489+210delTTTTTTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	12/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211839152	AAGGAGGA others(2): Show AAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18906.hp2 NA19240.hp2 HG02615.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 a0001c0001t0002 a0001c0001t0004 a0001c0001t0028	a0001c0001t0002g0024 a0001c0001t0004g0008 a0001c0001t0028g0053 a0001c0001t0002g0024 a0001c0001t0004g0008 a0001c0001t0028g0053	3	8	0.3750	-9	c.422 others(28): Show c.422-51002_422-50994delCCTCCTCCT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211944142	ACATATAC others(2): Show ACATATACAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19240.hp1 HG02895.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0050 a0001c0001t0019g0002 a0001c0001t0003g0050 a0001c0001t0019g0002	2	56	0.0357	-9	c.421 others(26): Show c.421+3279_421+3287delGTGTATATG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212072940	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02809.hp2 others(8): Show HG02145.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029	a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0003g0049 others(8): Show a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0004g0011 a0001c0001t0005g0044 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0009g0023 a0001c0001t0017g0029 a0001c0001t0024g0038 a0001c0001t0029g0054	11	56	0.1964	-9	c.234 others(28): Show c.234+51803_234+51811delGTTGTTGTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212233963	TTTATTAT others(2): Show TTTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01891.hp1 others(6): Show HG01175.hp2 HG01243.hp1 HG01891.hp1 HG02258.hp2 HG02717.hp1 HG03239.hp2 HG03471.hp2 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 a0001c0002t0016 a0002c0003t0001	a0001c0001t0003g0049 a0001c0001t0005g0015 a0001c0001t0007g0018 others(6): Show a0001c0001t0003g0049 a0001c0001t0005g0015 a0001c0001t0007g0018 a0001c0001t0009g0046 a0001c0001t0010g0022 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0002t0016g0019 a0002c0003t0001g0014	9	25	0.3600	-9	c.83- others(28): Show c.83-109069_83-109061delTAATAATAA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212522446	GTTGAATA others(2): Show GTTGAATAGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02965.hp2 others(4): Show HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022	a0001c0001t0003g0040 a0001c0001t0004g0011 a0001c0001t0006g0039 others(4): Show a0001c0001t0003g0040 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0014g0007 a0001c0001t0022g0006	7	56	0.1250	-9	c.82+ others(26): Show c.82+15994_82+16002delGCTATTCAA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERC1_chr12_986223_1500931	1090863	GTTGTTAT others(2): Show GTTGTTATTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG01081.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0047 a0002c0002t0065 a0001c0001t0047 a0002c0002t0065	a0001c0001t0047g0121 a0002c0002t0065g0131 a0001c0001t0047g0121 a0002c0002t0065g0131	2	155	0.0129	-9	c.108 others(28): Show c.1086+7286_1086+7294delGTTATTATT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090866	GTTATTAT others(2): Show GTTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG01891.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0053 a0002c0002t0084 a0001c0001t0053 a0002c0002t0084	a0001c0001t0053g0039 a0002c0002t0084g0100 a0001c0001t0053g0039 a0002c0002t0084g0100	2	145	0.0138	-9	c.108 others(28): Show c.1086+7324_1086+7332delTATTATTAT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1129320	CAACAAAA others(2): Show CAACAAAACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp1 others(42): Show HG00323.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03669.hp1 NA18966.hp2 NA18982.hp2 NA19030.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0003c0004 a0006c0008 a0009c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0042 a0001c0001t0051 a0001c0001t0053 a0001c0001t0060 a0001c0013t0045 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0002c0002t0022 a0002c0002t0029 a0002c0002t0039 a0002c0002t0044 a0002c0002t0050 a0002c0002t0055 a0002c0002t0066 a0002c0002t0078 a0003c0004t0001 a0003c0004t0003 a0006c0008t0017 a0009c0009t0012	a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0003g0029 others(42): Show a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0003g0029 a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0009g0072 a0001c0001t0012g0112 a0001c0001t0013g0041 a0001c0001t0018g0074 a0001c0001t0018g0080 a0001c0001t0020g0141 a0001c0001t0021g0153 a0001c0001t0030g0159 a0001c0001t0032g0129 a0001c0001t0042g0085 a0001c0001t0051g0079 a0001c0001t0053g0039 a0001c0001t0060g0130 a0001c0013t0045g0073 a0002c0002t0002g0037 a0002c0002t0008g0135 a0002c0002t0008g0136 a0002c0002t0008g0137 a0002c0002t0008g0155 a0002c0002t0012g0115 a0002c0002t0022g0075 a0002c0002t0022g0139 a0002c0002t0029g0117 a0002c0002t0039g0104 a0002c0002t0044g0040 a0002c0002t0050g0138 a0002c0002t0055g0146 a0002c0002t0066g0134 a0002c0002t0078g0154 a0003c0004t0001g0059 a0003c0004t0001g0063 a0003c0004t0003g0053 a0003c0004t0003g0056 a0006c0008t0017g0140 a0009c0009t0012g0110	45	160	0.2813	-9	c.157 others(30): Show c.1570-12294_1570-12286delAACTAACAA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1225450	ACACACAC others(2): Show ACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0040 a0002c0002t0036 a0002c0002t0040	a0002c0002t0036g0082 a0002c0002t0040g0070 a0002c0002t0036g0082 a0002c0002t0040g0070	2	121	0.0165	-9	c.235 others(30): Show c.2352-11318_2352-11310delCACACACAC		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1241844	CTTCTTTT others(2): Show CTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02809.hp1 others(3): Show HG02145.hp1 HG02258.hp2 HG02809.hp1 HG02896.hp2 HG03225.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0086 a0002c0002t0054 a0002c0002t0058 others(3): Show a0001c0001t0086 a0002c0002t0054 a0002c0002t0058 a0002c0002t0062 a0002c0002t0073 a0002c0002t0088	a0001c0001t0086g0095 a0002c0002t0054g0076 a0002c0002t0058g0123 others(3): Show a0001c0001t0086g0095 a0002c0002t0054g0076 a0002c0002t0058g0123 a0002c0002t0062g0142 a0002c0002t0073g0052 a0002c0002t0088g0108	6	146	0.0411	-9	c.248 others(28): Show c.2487+4943_2487+4951delCTTTTTTTT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1356212	AAGTGTGT others(2): Show AAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02886.hp2 others(2): Show HG02055.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0055 a0002c0002t0010 a0002c0002t0055	a0002c0002t0010g0087 a0002c0002t0010g0089 a0002c0002t0010g0090 others(2): Show a0002c0002t0010g0087 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0091 a0002c0002t0055g0146	5	101	0.0495	-9	c.278 others(30): Show c.2781-15620_2781-15612delAGTGTGTGT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1487372	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02109.hp1 others(10): Show HG01243.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03225.hp1 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0011 a0002c0002t0034 others(5): Show a0002c0002t0008 a0002c0002t0011 a0002c0002t0034 a0002c0002t0037 a0002c0002t0058 a0002c0002t0062 a0002c0002t0066 a0002c0002t0080	a0002c0002t0008g0135 a0002c0002t0008g0137 a0002c0002t0008g0155 others(10): Show a0002c0002t0008g0135 a0002c0002t0008g0137 a0002c0002t0008g0155 a0002c0002t0011g0122 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0011g0128 a0002c0002t0034g0158 a0002c0002t0037g0151 a0002c0002t0058g0123 a0002c0002t0062g0142 a0002c0002t0066g0134 a0002c0002t0080g0106	13	40	0.3250	-9	c.321 others(28): Show c.3214-2701_3214-2693delTTTTTTTTT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55571124	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02145.hp2 HG02258.hp1 others(10): Show HG01169.hp1 HG02145.hp2 HG02258.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03540.hp1 HG03540.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0002g0011 a0001c0001t0002g0037 others(10): Show a0001c0001t0001g0016 a0001c0001t0002g0011 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0005g0062 a0001c0001t0006g0027 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0002t0001g0006 a0001c0004t0001g0028 a0001c0004t0001g0031	13	41	0.3171	-9	c.40 others(28): Show c.40-59857_*40-59849delTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55719941	ATTCCTTT others(2): Show ATTCCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01167.hp1 others(1): Show HG00741.hp1 HG00741.hp2 HG01167.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0001t0002g0036 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0001t0002g0036 a0002c0003t0001g0039	4	72	0.0556	-9	c.271 others(30): Show c.2712+14821_2712+14829delAGAAAGGAA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55759462	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp1 HG01099.hp2 others(13): Show HG01071.hp2 HG01099.hp1 HG01099.hp2 HG02040.hp1 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03834.hp1 NA19043.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0003c0005t0003 a0004c0006t0004	a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0061 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0002g0008 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0003g0070 a0001c0001t0004g0020 a0001c0001t0005g0062 a0001c0001t0010g0045 a0001c0002t0001g0003 a0001c0002t0001g0042 a0001c0002t0001g0067 a0001c0002t0002g0012 a0003c0005t0003g0065 a0004c0006t0004g0059	16	23	0.6957	-9	c.256 others(30): Show c.2565-24553_2565-24545delTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55828457	TGGCAGCA others(2): Show TGGCAGCAGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0057 a0001c0001t0002g0066	2	41	0.0488	-9	c.256 others(30): Show c.2564+59923_2564+59931delCCTGCTGCC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55952166	CACACACA others(2): Show CACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG01099.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0001t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0011g0047 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0011g0047 a0001c0002t0001g0067	4	64	0.0625	-9	c.226 others(28): Show c.2268-1615_2268-1607delTGTGTGTGT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56186114	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03195.hp2 others(1): Show HG03041.hp2 HG03130.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0010g0045	4	15	0.2667	-9	c.107 others(30): Show c.1075-12603_1075-12595delTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17						chr3	TogoVar
ERCC1_chr19_45402334_45428917	45425082	ATTTTTTT others(2): Show ATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(115): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18973.hp1 NA18989.hp1 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0002t0002 a0004c0008t0004	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 others(80): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0184 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0025 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0160 a0001c0001t0005g0114 a0001c0001t0015g0019 a0001c0001t0017g0140 a0001c0001t0017g0143 a0001c0001t0018g0109 a0001c0001t0018g0146 a0001c0001t0020g0050 a0001c0001t0030g0154 a0001c0001t0031g0157 a0001c0001t0032g0118 a0001c0001t0033g0119 a0001c0001t0034g0188 a0001c0002t0002g0001 a0001c0002t0002g0013 a0004c0008t0004g0111	118	212	0.5566	-9	c.-13 others(20): Show c.-1318_-1310delAAAAAAAAA		ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding					1166		chr19	TogoVar
ERCC3_chr2_127252290_127299144	127295967	TAAAAAAA others(2): Show TAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02738.hp1 HG02818.hp1 others(3): Show HG02630.hp1 HG02738.hp1 HG02818.hp1 HG03139.hp2 HG03209.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0006 a0001c0001 a0001c0010 a0003c0006	a0001c0001t0002 a0001c0010t0001 a0003c0006t0002 a0001c0001t0002 a0001c0010t0001 a0003c0006t0002	a0001c0001t0002g0050 a0001c0001t0002g0242 a0001c0001t0002g0243 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0010t0001g0237 a0003c0006t0002g0240	6	193	0.0311	-9	c.-18 others(20): Show c.-1895_-1887delTTTTTTTTT		ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding					1824		chr2	TogoVar
ERCC6L2_chr9_95870691_96023447	95873306	GTCTCAAA others(2): Show GTCTCAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01346.hp1 others(1): Show HG00280.hp2 HG00642.hp2 HG01346.hp1 HG03688.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0013c0016t0001 a0001c0001t0001 a0013c0016t0001	a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0083 a0013c0016t0001g0086	4	390	0.0103	-9	c.-27 others(20): Show c.-2732_-2724delTCTCAAAAA		ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding					2384		chr9	TogoVar
ERF_chr19_42242569_42260128	42253859	AGCCGCCG others(2): Show AGCCGCCGCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02258.hp2 others(1): Show HG01884.hp2 HG02145.hp1 HG02258.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	263	0.0152	-9	c.22+ others(24): Show c.22+1110_22+1118delGGCGGCGGC		ERF	ENSG00000105722.10	transcript	ENST00000222329.9	protein_coding	1/3						chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172910520	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(141): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(141): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0288 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0002g0191 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0229 a0001c0001t0002g0239 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0318 a0001c0001t0003g0034 a0001c0001t0003g0061 a0001c0001t0003g0154 a0001c0001t0003g0210 a0001c0001t0003g0267 a0001c0001t0003g0284 a0001c0001t0003g0296 a0001c0001t0003g0311 a0001c0001t0003g0316 a0001c0001t0004g0326 a0001c0001t0006g0192 a0001c0001t0006g0270 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0007g0314 a0001c0001t0008g0150 a0001c0001t0008g0187 a0001c0001t0008g0205 a0001c0001t0009g0329 a0001c0001t0010g0058 a0001c0001t0011g0099 a0001c0001t0011g0117 a0001c0001t0017g0234 a0001c0001t0019g0068 a0001c0001t0022g0315 a0001c0001t0027g0091 a0001c0001t0028g0088 a0001c0001t0033g0085 a0002c0003t0002g0012	144	244	0.5902	-9	c.250 others(24): Show c.250+772_250+780delTTTTTTTTT		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172923360	AGGAGGAG others(2): Show AGGAGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01257.hp2 others(14): Show HG00140.hp1 HG00280.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG02280.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp2 HG03486.hp1 NA18612.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA19074.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0209 others(14): Show a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0306 a0001c0001t0002g0138 a0001c0001t0002g0191 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0005g0005 a0001c0001t0005g0156 a0001c0001t0005g0162 a0001c0001t0005g0206 a0001c0001t0005g0301 a0001c0001t0005g0308 a0001c0001t0026g0215 a0001c0001t0030g0089	17	332	0.0512	-9	c.376 others(24): Show c.376-627_376-619delGGGAGGAGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38440787	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00558.hp2 others(72): Show HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03492.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18952.hp2 NA18972.hp1 NA18974.hp1 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA19003.hp2 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19078.hp2 NA19079.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0120 others(72): Show a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0237 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0001g0323 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0002g0086 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0002g0185 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0322 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0003g0110 a0001c0001t0003g0118 a0001c0001t0003g0131 a0001c0001t0003g0162 a0001c0001t0003g0195 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0281 a0001c0001t0003g0298 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0308 a0001c0001t0003g0321 a0001c0001t0003g0337 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0051 a0001c0001t0005g0032 a0001c0001t0006g0006 a0001c0001t0006g0036 a0001c0001t0007g0022 a0001c0001t0008g0094 a0001c0001t0008g0171 a0001c0001t0010g0192 a0001c0001t0011g0278 a0001c0001t0013g0093 a0001c0001t0013g0331 a0001c0001t0026g0125 a0001c0001t0028g0284 a0001c0001t0029g0232	75	103	0.7282	-9	c.236 others(26): Show c.236+4608_236+4616delTTTTTTTTT		ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9						chr21	TogoVar
ERI1_chr8_8997897_9038338	9017515	GTAGGCCT others(2): Show GTAGGCCTAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 NA20805.hp1 HG01081.hp2 HG01168.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0016 a0002c0003t0015g0016	3	424	0.0071	-9	c.583 others(24): Show c.583-779_583-771delGGCCTAATA		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9021761	ATTTGTTT others(2): Show ATTTGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(45): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp1 HG04228.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0044 a0001c0002t0004 others(3): Show a0001c0001t0004 a0001c0001t0044 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025 a0001c0002t0029	a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0048 others(38): Show a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0210 a0001c0001t0044g0062 a0001c0002t0004g0005 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0022 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0080 a0001c0002t0004g0081 a0001c0002t0004g0082 a0001c0002t0004g0083 a0001c0002t0004g0084 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0088 a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0024g0022 a0001c0002t0024g0106 a0001c0002t0025g0102 a0001c0002t0025g0103 a0001c0002t0029g0085	48	424	0.1132	-9	c.807 others(26): Show c.807+1310_807+1318delGTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44342857	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG02027.hp1 others(5): Show HG00544.hp1 HG00733.hp2 HG02027.hp1 HG02083.hp2 HG03704.hp1 HG04199.hp1 NA19082.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0173 a0001c0001t0001g0312	8	206	0.0388	-9	c.212 others(26): Show c.212-3544_212-3536delAAAAAAAAA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERICH1_chr8_659200_736224	663531	GGGACAGG others(2): Show GGGACAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02970.hp1 HG03130.hp2 HG01255.hp1 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0314 a0001c0003t0002g0315 a0001c0003t0002g0316 a0001c0003t0002g0314 a0001c0003t0002g0315 a0001c0003t0002g0316	3	376	0.0080	-9	c.10 others(20): Show c.1063_*1071delTGCCTGTCC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding					668		chr8	TogoVar
ERICH1_chr8_659200_736224	695829	TCCTCCCT others(2): Show TCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA20300.hp2 NA20752.hp1 HG04184.hp2 NA20300.hp2 NA20752.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0002 a0012c0011t0002 a0001c0001t0002 a0012c0011t0002	a0001c0001t0002g0273 a0001c0001t0002g0332 a0012c0011t0002g0244 a0001c0001t0002g0273 a0001c0001t0002g0332 a0012c0011t0002g0244	3	376	0.0080	-9	c.170 others(26): Show c.170-3226_170-3218delGGAGGGAGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	695973	CCACTCCT others(2): Show CCACTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp2 HG03453.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006 a0008c0017	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0003c0004t0002 a0004c0006t0002 a0008c0017t0002	a0001c0001t0002g0352 a0001c0002t0001g0021 a0001c0002t0001g0025 others(24): Show a0001c0001t0002g0352 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0002g0300 a0001c0002t0002g0326 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0336 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0002g0351 a0003c0004t0002g0324 a0003c0004t0002g0325 a0004c0006t0002g0249 a0004c0006t0002g0250 a0004c0006t0002g0327 a0008c0017t0002g0367	27	375	0.0720	-9	c.170 others(26): Show c.170-3370_170-3362delAGAGGAGTG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	696092	TCCCTCCT others(2): Show TCCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01952.hp1 HG02055.hp1 others(7): Show HG01099.hp1 HG01952.hp1 HG02055.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG03098.hp1 HG03490.hp1 NA19002.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0002c0005t0001 a0002c0005t0002	a0001c0001t0002g0252 a0001c0002t0002g0342 a0001c0002t0002g0344 others(7): Show a0001c0001t0002g0252 a0001c0002t0002g0342 a0001c0002t0002g0344 a0001c0002t0002g0349 a0001c0003t0001g0217 a0001c0003t0001g0223 a0001c0003t0004g0228 a0002c0005t0001g0234 a0002c0005t0001g0235 a0002c0005t0002g0285	10	376	0.0266	-9	c.170 others(26): Show c.170-3489_170-3481delGGAGGAGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar

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