Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ETV6_chr12_11644674_11900377	11893827	TATATATA others(13): Show TATATATATATATATACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0157 a0001c0001t0064g0157	1	262	0.0038	-20	c.27 others(31): Show c.2783_*2802delTATATATATATATACACACA	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	8/8	2783	INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1C_chr21_32407706_32520387	32501984	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00741.hp1 others(17): Show HG00140.hp2 HG00639.hp2 HG00741.hp1 HG01106.hp1 HG01261.hp2 HG01975.hp1 HG02129.hp2 HG02165.hp1 HG02559.hp2 HG02630.hp1 HG03209.hp2 HG03490.hp2 NA18939.hp2 NA18941.hp1 NA18947.hp2 NA18977.hp2 NA18979.hp2 NA18984.hp2 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0010t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0095 others(17): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0248 a0001c0001t0001g0286 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0173 a0001c0002t0001g0335 a0001c0002t0002g0267 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0002g0322 a0001c0007t0001g0265 a0001c0010t0001g0228	20	346	0.0578	-20	c.859 others(35): Show c.859+540_859+559delTCTTTCTTTCTTTCTTTCTT	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVC2_chr4_5557439_5713559	5683771	CCCAGGAA others(13): Show CCCAGGAACACACACAGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01069.hp2 others(33): Show HG00280.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01168.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01993.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp1 HG03669.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19085.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0011 a0012 a0021 a0028	a0001c0001 a0001c0003 a0001c0011 others(19): Show a0001c0001 a0001c0003 a0001c0011 a0001c0016 a0001c0022 a0002c0002 a0002c0007 a0002c0012 a0002c0015 a0002c0017 a0002c0043 a0002c0053 a0003c0006 a0003c0013 a0003c0074 a0005c0008 a0005c0071 a0006c0025 a0011c0076 a0012c0027 a0021c0066 a0028c0044	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(21): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0011t0001 a0001c0016t0001 a0001c0016t0002 a0001c0022t0001 a0002c0002t0002 a0002c0007t0001 a0002c0012t0002 a0002c0015t0001 a0002c0017t0001 a0002c0043t0002 a0002c0053t0002 a0003c0006t0002 a0003c0013t0002 a0003c0074t0002 a0005c0008t0001 a0005c0071t0001 a0006c0025t0002 a0011c0076t0001 a0012c0027t0002 a0021c0066t0001 a0028c0044t0002	a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0003t0001g0188 others(33): Show a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0003t0001g0188 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0003g0007 a0001c0011t0001g0202 a0001c0011t0001g0206 a0001c0016t0001g0189 a0001c0016t0002g0171 a0001c0022t0001g0187 a0001c0022t0001g0203 a0002c0002t0002g0184 a0002c0007t0001g0186 a0002c0012t0002g0079 a0002c0012t0002g0181 a0002c0012t0002g0200 a0002c0015t0001g0093 a0002c0017t0001g0078 a0002c0043t0002g0037 a0002c0053t0002g0159 a0003c0006t0002g0272 a0003c0013t0002g0230 a0003c0013t0002g0238 a0003c0013t0002g0240 a0003c0074t0002g0239 a0005c0008t0001g0255 a0005c0008t0001g0264 a0005c0008t0001g0277 a0005c0071t0001g0237 a0006c0025t0002g0110 a0011c0076t0001g0263 a0012c0027t0002g0233 a0012c0027t0002g0244 a0021c0066t0001g0250 a0028c0044t0002g0038	36	292	0.1233	-20	c.816 others(37): Show c.816+1579_816+1598delCCAGCTGTGTGTGTTCCTGG	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	6/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5748760	TCATCCAT others(13): Show TCATCCATCCATCCATCCACC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(62): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01192.hp1 HG01433.hp1 HG01884.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18949.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18979.hp1 NA18995.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0005 a0008 a0009 a0011 a0012 a0016 a0018 a0036 a0037 a0040 a0054 a0064 a0067	a0001c0002 a0001c0004 a0001c0023 others(22): Show a0001c0002 a0001c0004 a0001c0023 a0001c0040 a0001c0044 a0001c0059 a0002c0005 a0004c0006 a0004c0011 a0004c0020 a0005c0007 a0005c0019 a0008c0028 a0009c0022 a0011c0035 a0012c0037 a0016c0034 a0018c0108 a0018c0118 a0036c0053 a0037c0054 a0040c0056 a0054c0078 a0064c0096 a0067c0104	a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 others(32): Show a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0013 a0001c0004t0022 a0001c0023t0003 a0001c0040t0003 a0001c0044t0001 a0001c0059t0030 a0002c0005t0001 a0002c0005t0002 a0002c0005t0015 a0004c0006t0001 a0004c0006t0018 a0004c0011t0002 a0004c0011t0003 a0004c0020t0001 a0005c0007t0003 a0005c0019t0005 a0008c0028t0007 a0009c0022t0001 a0011c0035t0023 a0012c0037t0012 a0016c0034t0015 a0018c0108t0001 a0018c0118t0001 a0036c0053t0001 a0037c0054t0001 a0040c0056t0012 a0054c0078t0001 a0064c0096t0001 a0067c0104t0005	a0001c0002t0002g0098 a0001c0002t0002g0147 a0001c0002t0002g0332 others(62): Show a0001c0002t0002g0098 a0001c0002t0002g0147 a0001c0002t0002g0332 a0001c0002t0003g0009 a0001c0002t0003g0057 a0001c0002t0003g0105 a0001c0002t0003g0156 a0001c0002t0003g0339 a0001c0002t0003g0342 a0001c0004t0001g0007 a0001c0004t0001g0014 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0073 a0001c0004t0001g0145 a0001c0004t0001g0157 a0001c0004t0001g0262 a0001c0004t0001g0269 a0001c0004t0004g0047 a0001c0004t0005g0260 a0001c0004t0007g0146 a0001c0004t0013g0352 a0001c0004t0022g0039 a0001c0004t0022g0334 a0001c0023t0003g0160 a0001c0023t0003g0162 a0001c0040t0003g0168 a0001c0044t0001g0110 a0001c0059t0030g0081 a0002c0005t0001g0019 a0002c0005t0001g0038 a0002c0005t0001g0048 a0002c0005t0001g0243 a0002c0005t0001g0322 a0002c0005t0001g0335 a0002c0005t0002g0123 a0002c0005t0015g0071 a0002c0005t0015g0355 a0004c0006t0001g0003 a0004c0006t0001g0104 a0004c0006t0018g0239 a0004c0011t0002g0102 a0004c0011t0003g0103 a0004c0020t0001g0266 a0004c0020t0001g0267 a0005c0007t0003g0217 a0005c0007t0003g0229 a0005c0007t0003g0233 a0005c0007t0003g0311 a0005c0019t0005g0213 a0008c0028t0007g0305 a0009c0022t0001g0195 a0009c0022t0001g0265 a0011c0035t0023g0353 a0012c0037t0012g0254 a0016c0034t0015g0206 a0016c0034t0015g0307 a0018c0108t0001g0247 a0018c0118t0001g0244 a0036c0053t0001g0321 a0037c0054t0001g0271 a0040c0056t0012g0316 a0054c0078t0001g0363 a0064c0096t0001g0308 a0067c0104t0005g0264	65	369	0.1762	-20	c.109 others(37): Show c.1098+473_1098+492delCCCATCCATCCATCCATCCA	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVC_chr4_5706201_5819305	5794251	TTATATGT others(13): Show TTATATGTATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0284 a0001c0004t0005g0284	1	369	0.0027	-20	c.188 others(37): Show c.1886+540_1886+559delGTATTTATATATTTATATAT	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVC_chr4_5706201_5819305	5813319	AGCCTCCC others(13): Show AGCCTCCCCAGTAGCTGGGAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0052 a0001c0004t0043g0052	1	369	0.0027	-20	c.22 others(31): Show c.2283_*2302delGCCTCCCCAGTAGCTGGGAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	21/21	2283		chr4	TogoVar
EVI5L_chr19_7825218_7869976	7831502	AGCGCCCA others(13): Show AGCGCCCACACTGGAGCCTTG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0254	1	396	0.0025	-20	c.-48 others(37): Show c.-48+1123_-48+1142delCGCCCACACTGGAGCCTTGG	EVI5L	ENSG00000142459.9	transcript	ENST00000538904.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EVI5_chr1_92503696_92790108	92513510	AATATATA others(13): Show AATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01256.hp1 others(3): Show HG01106.hp1 HG01109.hp2 HG01256.hp1 HG01981.hp2 HG03704.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0152 a0002c0002t0004g0153 a0002c0002t0004g0158 others(3): Show a0002c0002t0004g0152 a0002c0002t0004g0153 a0002c0002t0004g0158 a0002c0002t0004g0164 a0002c0002t0004g0165 a0002c0002t0004g0166	6	168	0.0357	-20	c.12 others(29): Show c.126_*145delATATATATATATATATATAT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20	126		chr1	TogoVar
EVI5_chr1_92503696_92790108	92513547	ATATATAT others(13): Show ATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0015 a0001c0001t0040g0015	1	168	0.0060	-20	c.89 others(28): Show c.89_*108delCATATATATATATATATATA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20	89		chr1	TogoVar
EVI5_chr1_92503696_92790108	92744596	TCTCTCAC others(13): Show TCTCTCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02109.hp1 others(3): Show HG01109.hp1 HG02055.hp2 HG02109.hp1 HG03041.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0022 a0001c0001t0043 a0001c0001t0012 a0001c0001t0022 a0001c0001t0043	a0001c0001t0012g0130 a0001c0001t0012g0131 a0001c0001t0012g0132 others(3): Show a0001c0001t0012g0130 a0001c0001t0012g0131 a0001c0001t0012g0132 a0001c0001t0022g0134 a0001c0001t0022g0135 a0001c0001t0043g0042	6	168	0.0357	-20	c.-81 others(37): Show c.-81-7989_-81-7970delTGTGTGTGTGTGTGTGAGAG	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92744598	TCTCACAC others(13): Show TCTCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0133 a0001c0001t0012g0133	1	168	0.0060	-20	c.-81 others(37): Show c.-81-7991_-81-7972delTGTGTGTGTGTGTGTGTGAG	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19			chr1	TogoVar
EXD3_chr9_137301896_137428162	137328581	GCTACACG others(13): Show GCTACACGGGACTACACGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01975.hp1 HG02965.hp2 others(4): Show HG01884.hp2 HG01975.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp2 NA18951.hp2 NA19043.hp2	a0002 a0004 a0019 others(3): Show a0002 a0004 a0019 a0020 a0022 a0024	a0002c0002 a0004c0009 a0019c0019 others(3): Show a0002c0002 a0004c0009 a0019c0019 a0020c0014 a0022c0015 a0024c0017	a0002c0002t0001 a0004c0009t0001 a0019c0019t0001 others(3): Show a0002c0002t0001 a0004c0009t0001 a0019c0019t0001 a0020c0014t0001 a0022c0015t0001 a0024c0017t0001	a0002c0002t0001g0011 a0002c0002t0001g0076 a0004c0009t0001g0014 others(4): Show a0002c0002t0001g0011 a0002c0002t0001g0076 a0004c0009t0001g0014 a0019c0019t0001g0022 a0020c0014t0001g0074 a0022c0015t0001g0072 a0024c0017t0001g0007	7	82	0.0854	-20	c.199 others(39): Show c.1999-4458_1999-4439delTCCCGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137328741	GCTACACG others(13): Show GCTACACGGGACTACACGGGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	82	0.0122	-20	c.199 others(39): Show c.1999-4618_1999-4599delTCCCGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137328931	ACTACACG others(13): Show ACTACACGGGGCTACACGGGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0024 a0014c0029t0001g0024	1	82	0.0122	-20	c.199 others(39): Show c.1999-4808_1999-4789delCCCCGTGTAGCCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329199	TACACGGG others(13): Show TACACGGGGCTACACGGGACG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0022 a0019c0019t0001g0022	1	82	0.0122	-20	c.199 others(39): Show c.1999-5076_1999-5057delCGTCCCGTGTAGCCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137330573	GCTACACA others(13): Show GCTACACAGGACTACACAGGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0005 a0008c0020t0001g0005	1	82	0.0122	-20	c.199 others(39): Show c.1999-6450_1999-6431delTCCTGTGTAGTCCTGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501193	CTATATAT others(13): Show CTATATATATTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	272	0.0037	-20	c.238 others(39): Show c.2381-1513_2381-1494delATATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133558189	CTCTTTTC others(13): Show CTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp1 NA19010.hp2 others(2): Show HG02647.hp2 HG02976.hp1 NA19010.hp2 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0004	a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0002t0001g0014 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0002t0001g0014 a0001c0004t0001g0009 a0001c0004t0004g0037	5	102	0.0490	-20	c.141 others(41): Show c.1418-71808_1418-71789delTTTTCTTTTCTTTTCTTTTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787370	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(40): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00738.hp1 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01261.hp2 HG01496.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04184.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0002t0002 a0001c0003t0014 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0005t0007 a0001c0005t0011 a0001c0005t0012 a0001c0006t0010 a0001c0007t0008	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0002g0003 a0001c0001t0002g0050 a0001c0001t0002g0100 a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0003g0057 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0005g0040 a0001c0001t0006g0059 a0001c0001t0009g0001 a0001c0001t0009g0046 a0001c0001t0017g0094 a0001c0001t0019g0085 a0001c0002t0002g0071 a0001c0003t0014g0049 a0001c0003t0018g0058 a0001c0004t0001g0009 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0087 a0001c0004t0002g0029 a0001c0004t0002g0030 a0001c0004t0004g0037 a0001c0004t0004g0044 a0001c0004t0004g0082 a0001c0004t0008g0028 a0001c0005t0007g0025 a0001c0005t0007g0069 a0001c0005t0011g0043 a0001c0005t0012g0024 a0001c0006t0010g0035 a0001c0006t0010g0084 a0001c0007t0008g0081	43	102	0.4216	-20	c.151 others(41): Show c.1515-29953_1515-29934delTGTGTGTGTGTGTGTGTGAG	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787948	CATATATT others(13): Show CATATATTTATATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	102	0.0098	-20	c.151 others(41): Show c.1515-29370_1515-29351delTTATATATTTATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787955	TTATATAT others(13): Show TTATATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19065.hp1 HG02976.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0083 a0001c0002t0001g0014 a0001c0001t0001g0083 a0001c0002t0001g0014	2	102	0.0196	-20	c.151 others(41): Show c.1515-29362_1515-29343delTTATATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133787963	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0065	1	102	0.0098	-20	c.151 others(41): Show c.1515-29332_1515-29313delATATATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857148	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	102	0.0098	-20	c.173 others(41): Show c.1735-38417_1735-38398delATATATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857257	ATATATAT others(13): Show ATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	102	0.0098	-20	c.173 others(41): Show c.1735-38325_1735-38306delCACGTATATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857305	ATATATAT others(13): Show ATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	102	0.0098	-20	c.173 others(41): Show c.1735-38277_1735-38258delCACGTATATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC5_chr14_57195507_57273905	57201433	CACACACA others(13): Show CACACACACGTGTGTATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0172 a0001c0001t0048g0172	1	214	0.0047	-20	c.71 others(31): Show c.7156_*7175delATATATACACACGTGTGTGT	EXOC5	ENSG00000070367.17	transcript	ENST00000621441.5	protein_coding	18/18	7156		chr14	TogoVar
EXOC6B_chr2_72170984_72831033	72539743	TGTGTGTG others(13): Show TGTGTGTGCGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	104	0.0096	-20	c.915 others(39): Show c.915+19690_915+19709delGCGCGCGCGCGCGCACACAC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	8/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631453	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0075 a0001c0002t0005g0075	1	104	0.0096	-20	c.670 others(39): Show c.670-55805_670-55786delCTCTCTCTCTCTATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631455	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18522.hp1 HG01109.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0010 a0001c0002t0003 a0001c0003t0010	a0001c0002t0003g0071 a0001c0003t0010g0074 a0001c0002t0003g0071 a0001c0003t0010g0074	2	104	0.0192	-20	c.670 others(39): Show c.670-55807_670-55788delCTCTCTCTCTCTCTATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631459	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp1 HG03041.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0008 a0001c0002t0001 a0002c0004t0008	a0001c0002t0001g0007 a0002c0004t0008g0002 a0001c0002t0001g0007 a0002c0004t0008g0002	2	104	0.0192	-20	c.670 others(39): Show c.670-55811_670-55792delCTCTCTCTCTCTCTCTCTAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72636353	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02717.hp1 others(6): Show HG02257.hp1 HG02451.hp1 HG02717.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0029 a0001c0001t0003g0040 a0001c0001t0003g0041 others(6): Show a0001c0001t0003g0029 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0019g0043	9	104	0.0865	-20	c.670 others(39): Show c.670-60705_670-60686delGCTTCCTTCCTTCCTTCCTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72671749	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01123.hp1 others(5): Show HG00642.hp1 HG01109.hp2 HG01123.hp1 HG01256.hp1 HG01261.hp2 HG02145.hp2 HG03492.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0003t0010 others(2): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0010 a0001c0003t0015 a0001c0003t0023	a0001c0002t0003g0071 a0001c0003t0001g0082 a0001c0003t0001g0093 others(5): Show a0001c0002t0003g0071 a0001c0003t0001g0082 a0001c0003t0001g0093 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0010g0074 a0001c0003t0015g0099 a0001c0003t0023g0092	8	104	0.0769	-20	c.669 others(39): Show c.669+46334_669+46353delTTCTTTCTTTCTTTCTTTCT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72810336	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG03927.hp2 HG00323.hp2 HG01261.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0015 a0001c0003t0001 a0001c0003t0015	a0001c0003t0001g0082 a0001c0003t0001g0098 a0001c0003t0015g0090 a0001c0003t0001g0082 a0001c0003t0001g0098 a0001c0003t0015g0090	3	104	0.0289	-20	c.113 others(39): Show c.113+15442_113+15461delATTTATTTATTTATTTATTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92896179	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02451.hp1 HG02723.hp1 others(1): Show HG01192.hp2 HG02451.hp1 HG02723.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0004g0097	4	288	0.0139	-20	c.412 others(37): Show c.412+1161_412+1180delATTTTTTTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92896181	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02896.hp2 NA18956.hp1 others(2): Show HG01433.hp1 HG02896.hp2 NA18956.hp1 NA19011.hp2 NA19060.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0006c0008t0002	a0001c0001t0001g0007 a0001c0001t0002g0076 a0001c0001t0002g0093 others(2): Show a0001c0001t0001g0007 a0001c0001t0002g0076 a0001c0001t0002g0093 a0001c0001t0009g0248 a0006c0008t0002g0091	5	288	0.0174	-20	c.412 others(37): Show c.412+1178_412+1197delTTTTTTTTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC7_chr17_76076016_76108787	76102417	GACACACA others(13): Show GACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03098.hp2 HG03471.hp1 others(1): Show HG01074.hp1 HG03098.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 others(1): Show a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054	4	366	0.0109	-20	c.127 others(35): Show c.127-574_127-555delGTGTGTGTGTGTGTGTGTGT	EXOC7	ENSG00000182473.22	transcript	ENST00000589210.6	protein_coding	2/18			chr17	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01099.hp1 others(8): Show HG00639.hp1 HG01074.hp2 HG01099.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0171 a0001c0001t0005g0016	11	412	0.0267	-20	c.-36 others(31): Show c.-3636_-3617delACACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38492785	CACACACA others(13): Show CACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG01256.hp1 others(5): Show HG01106.hp1 HG01175.hp1 HG01256.hp1 NA18956.hp2 NA18990.hp1 NA19070.hp2 NA19075.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0155 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0191	8	412	0.0194	-20	c.-35 others(31): Show c.-3582_-3563delACACACACACACACACACAT	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3554		chr3	TogoVar
EXOSC7_chr3_44971244_45016471	44975766	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0064 a0004c0004t0001g0064	1	340	0.0029	-20	c.-51 others(29): Show c.-511_-492delCTCTCTCACACACACACACA	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding		477		chr3	TogoVar
EXPH5_chr11_108500435_108598768	108532352	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0069 a0002c0002t0040g0069	1	314	0.0032	-20	c.444 others(37): Show c.444-4188_444-4169delAAAAAATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108573139	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	314	0.0032	-20	c.119 others(39): Show c.119+20259_119+20278delTTTCTTTCTTTCTTTCTTTC	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586494	CCTTTCCT others(13): Show CCTTTCCTCCCTCCCCATCCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG02145.hp1 others(4): Show HG01496.hp1 HG01981.hp1 HG02145.hp1 HG02965.hp1 HG02970.hp2 HG03491.hp1 NA19082.hp1	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0008 a0010 a0018	a0003c0003 a0004c0004 a0005c0005 others(3): Show a0003c0003 a0004c0004 a0005c0005 a0008c0009 a0010c0008 a0018c0021	a0003c0003t0002 a0004c0004t0042 a0005c0005t0003 others(4): Show a0003c0003t0002 a0004c0004t0042 a0005c0005t0003 a0008c0009t0002 a0008c0009t0047 a0010c0008t0006 a0018c0021t0001	a0003c0003t0002g0298 a0004c0004t0042g0156 a0005c0005t0003g0203 others(4): Show a0003c0003t0002g0298 a0004c0004t0042g0156 a0005c0005t0003g0203 a0008c0009t0002g0121 a0008c0009t0047g0122 a0010c0008t0006g0120 a0018c0021t0001g0297	7	314	0.0223	-20	c.119 others(37): Show c.119+6904_119+6923delAGGATGGGGAGGGAGGAAAG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586598	CCTTTCCT others(13): Show CCTTTCCTCCCTCCCCATCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01261.hp1 others(14): Show HG00733.hp2 HG01175.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02145.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03491.hp1 HG03834.hp1 NA18956.hp1 NA18992.hp2 NA19062.hp2 NA19082.hp1	a0003 a0004 a0005 others(5): Show a0003 a0004 a0005 a0006 a0008 a0010 a0018 a0024	a0003c0003 a0003c0044 a0004c0004 others(6): Show a0003c0003 a0003c0044 a0004c0004 a0005c0005 a0006c0006 a0008c0009 a0010c0008 a0018c0021 a0024c0039	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(14): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0011 a0003c0003t0025 a0003c0003t0035 a0003c0044t0002 a0004c0004t0042 a0005c0005t0003 a0005c0005t0009 a0006c0006t0001 a0006c0006t0049 a0008c0009t0002 a0008c0009t0047 a0010c0008t0006 a0018c0021t0001 a0024c0039t0003	a0003c0003t0001g0291 a0003c0003t0002g0298 a0003c0003t0005g0289 others(14): Show a0003c0003t0001g0291 a0003c0003t0002g0298 a0003c0003t0005g0289 a0003c0003t0011g0295 a0003c0003t0025g0006 a0003c0003t0035g0290 a0003c0044t0002g0296 a0004c0004t0042g0156 a0005c0005t0003g0203 a0005c0005t0009g0293 a0006c0006t0001g0292 a0006c0006t0049g0309 a0008c0009t0002g0121 a0008c0009t0047g0122 a0010c0008t0006g0120 a0018c0021t0001g0297 a0024c0039t0003g0294	17	314	0.0541	-20	c.119 others(37): Show c.119+6800_119+6819delAGGATGGGGAGGGAGGAAAG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117858712	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02886.hp1 HG02559.hp1 HG02630.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0017 a0001c0002t0028 a0001c0007t0013 a0001c0002t0017 a0001c0002t0028 a0001c0007t0013	a0001c0002t0017g0188 a0001c0002t0028g0010 a0001c0007t0013g0014 a0001c0002t0017g0188 a0001c0002t0028g0010 a0001c0007t0013g0014	3	190	0.0158	-20	c.963 others(39): Show c.963-21531_963-21512delCTTCCTTCCTTCCTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19043.hp1 HG02074.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0020 a0001c0006t0009 a0001c0005t0020 a0001c0006t0009	a0001c0005t0020g0067 a0001c0006t0009g0074 a0001c0005t0020g0067 a0001c0006t0009g0074	2	190	0.0105	-20	c.963 others(39): Show c.963-21663_963-21644delTTTCTTTCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973800	AGAAAGGA others(13): Show AGAAAGGAAAGGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG03490.hp1 others(5): Show HG01884.hp2 HG02723.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp1 HG04199.hp1 NA18948.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0136 a0001c0001t0005g0026 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0136 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0041 a0001c0001t0009g0049 a0001c0001t0012g0175 a0001c0002t0002g0046	8	190	0.0421	-20	c.962 others(41): Show c.962+136265_962+136284delCTTTCCTTTCCTTTCCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117980694	GGTGGTTT others(13): Show GGTGGTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(61): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18962.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp2 NA18990.hp2 NA18999.hp1 NA19043.hp1 NA19062.hp1 NA19066.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0047 a0001c0001t0049 a0001c0001t0061 a0001c0001t0063 a0001c0001t0071 a0001c0002t0004 a0001c0002t0010 a0001c0002t0017 a0001c0002t0022 a0001c0002t0042 a0001c0002t0045 a0001c0002t0058 a0001c0002t0066 a0001c0003t0007 a0001c0003t0017 a0001c0004t0001 a0001c0004t0005 a0001c0004t0011 a0001c0004t0013 a0001c0004t0015 a0001c0004t0060 a0001c0005t0002 a0001c0005t0010 a0001c0005t0020 a0001c0005t0026 a0001c0005t0029 a0001c0005t0057 a0001c0006t0009 a0001c0007t0013 a0001c0008t0006 a0001c0008t0016 a0001c0010t0056 a0001c0011t0008	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0113 others(60): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0113 a0001c0001t0002g0053 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0003g0057 a0001c0001t0003g0139 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0055 a0001c0001t0006g0033 a0001c0001t0006g0144 a0001c0001t0007g0150 a0001c0001t0008g0069 a0001c0001t0009g0049 a0001c0001t0009g0075 a0001c0001t0009g0159 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0012g0175 a0001c0001t0017g0187 a0001c0001t0023g0169 a0001c0001t0024g0178 a0001c0001t0033g0015 a0001c0001t0035g0017 a0001c0001t0037g0157 a0001c0001t0040g0077 a0001c0001t0047g0127 a0001c0001t0049g0058 a0001c0001t0061g0167 a0001c0001t0063g0170 a0001c0001t0071g0181 a0001c0002t0004g0001 a0001c0002t0010g0083 a0001c0002t0017g0188 a0001c0002t0022g0137 a0001c0002t0042g0124 a0001c0002t0045g0063 a0001c0002t0058g0104 a0001c0002t0066g0179 a0001c0003t0007g0133 a0001c0003t0017g0186 a0001c0004t0001g0043 a0001c0004t0001g0101 a0001c0004t0005g0060 a0001c0004t0011g0138 a0001c0004t0013g0004 a0001c0004t0013g0005 a0001c0004t0015g0158 a0001c0004t0060g0165 a0001c0005t0002g0115 a0001c0005t0010g0082 a0001c0005t0020g0067 a0001c0005t0026g0002 a0001c0005t0029g0008 a0001c0005t0057g0132 a0001c0006t0009g0074 a0001c0007t0013g0014 a0001c0008t0006g0162 a0001c0008t0016g0163 a0001c0010t0056g0081 a0001c0011t0008g0160	64	190	0.3368	-20	c.962 others(41): Show c.962+129371_962+129390delAAAAAAAAAAAAAAAACCAC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118019246	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0178 a0001c0001t0024g0178	1	190	0.0053	-20	c.962 others(39): Show c.962+90819_962+90838delTTTCTTTCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118041665	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18948.hp2 HG02615.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0037 a0001c0001t0003 a0001c0001t0037	a0001c0001t0003g0071 a0001c0001t0037g0157 a0001c0001t0003g0071 a0001c0001t0037g0157	2	190	0.0105	-20	c.962 others(39): Show c.962+68400_962+68419delCTTCCTTCCTTCCTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118070226	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0011 a0001c0001t0032g0011	1	190	0.0053	-20	c.962 others(39): Show c.962+39839_962+39858delCACACACACACACACACACA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar

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