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
EEFSEC_chr3_128148481_128413646	128176981	G G	GATTATTA others(8): Show GATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG01109.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0204 a0001c0003t0001g0205	2	169	0.0118	15	c.316 others(34): Show c.316+23174_316+23188dupATTATTATTATTATT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128293660	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG01243.hp2 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0065 a0001c0008t0001g0014 a0001c0002t0001g0065 a0001c0008t0001g0014	2	241	0.0083	15	c.786 others(34): Show c.786+28892_786+28906dupAAAAAAAAAAAAAAA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG2_chr1_108555100_108644322	108560122	A A	AGGCGGCG others(8): Show AGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02886.hp1 HG03491.hp1 HG02886.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0211 a0001c0001t0027g0183 a0001c0001t0002g0211 a0001c0001t0027g0183	2	198	0.0101	15	c.-29 others(24): Show c.-299_-285dupGCGGCGGCGGCGGCG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/11	284	INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36198344	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	344	0.0029	15	c.879 others(34): Show c.879-40637_879-40623dupAAAAAAAAAAAGAAA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271798	C C	CCTATTCT others(8): Show CCTATTCTATTCTATT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19030.hp1 NA18979.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0022 a0001c0001t0001 a0002c0005t0022	a0001c0001t0001g0119 a0002c0005t0022g0195 a0001c0001t0001g0119 a0002c0005t0022g0195	2	200	0.0100	15	c.931 others(32): Show c.931-9246_931-9232dupCTATTCTATTCTATT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89842637	G G	GATATGAT others(8): Show GATATGATATGATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0270 a0001c0009t0014g0270	1	94	0.0106	15	c.411 others(34): Show c.411-45314_411-45313insTATATCATATCATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47423802	C C	CACCCTCC others(8): Show CACCCTCCTGCACCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp2 HG03041.hp2 HG01106.hp1 HG02809.hp2 HG03041.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0011 a0003c0008t0004g0012 a0003c0008t0004g0053 a0003c0008t0004g0011 a0003c0008t0004g0012 a0003c0008t0004g0053	3	354	0.0085	15	c.249 others(34): Show c.2495-6005_2495-5991dupACCTTACCCTCCTGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01496.hp2 others(21): Show HG00423.hp2 HG01081.hp2 HG01496.hp2 HG02165.hp1 HG02486.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG03041.hp2 HG03239.hp2 HG03471.hp2 NA18944.hp1 NA18948.hp2 NA18956.hp2 NA18965.hp2 NA18971.hp2 NA18982.hp1 NA18997.hp1 NA19062.hp2 NA19067.hp1 NA19075.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0010 a0003c0008 others(1): Show a0001c0001 a0002c0010 a0003c0008 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0002c0010t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0010t0001 a0003c0008t0004 a0006c0007t0001 a0006c0007t0010	a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0114 others(21): Show a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0002g0242 a0002c0010t0001g0268 a0002c0010t0001g0271 a0003c0008t0004g0011 a0003c0008t0004g0053 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0010g0061	24	66	0.3636	15	c.249 others(34): Show c.2495-4932_2495-4918dupTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47441998	C C	CTTTTATT others(8): Show CTTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(27): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG01106.hp1 HG02056.hp2 HG02647.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18948.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18990.hp1 NA18993.hp2 NA19004.hp2 NA19009.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1	a0003 a0006 a0008 others(2): Show a0003 a0006 a0008 a0009 a0013	a0003c0004 a0003c0008 a0006c0007 others(3): Show a0003c0004 a0003c0008 a0006c0007 a0008c0011 a0009c0012 a0013c0017	a0003c0004t0001 a0003c0004t0002 a0003c0008t0004 others(4): Show a0003c0004t0001 a0003c0004t0002 a0003c0008t0004 a0006c0007t0001 a0008c0011t0001 a0009c0012t0002 a0013c0017t0001	a0003c0004t0001g0141 a0003c0004t0002g0214 a0003c0004t0002g0216 others(26): Show a0003c0004t0001g0141 a0003c0004t0002g0214 a0003c0004t0002g0216 a0003c0004t0002g0219 a0003c0004t0002g0224 a0003c0004t0002g0228 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0238 a0003c0004t0002g0239 a0003c0004t0002g0244 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0008t0004g0005 a0003c0008t0004g0011 a0003c0008t0004g0012 a0003c0008t0004g0053 a0006c0007t0001g0059 a0006c0007t0001g0062 a0006c0007t0001g0064 a0008c0011t0001g0049 a0008c0011t0001g0050 a0009c0012t0002g0004 a0009c0012t0002g0215 a0009c0012t0002g0241 a0013c0017t0001g0209	30	147	0.2041	15	c.12 others(26): Show c.1284_*1285insTTTTATTTTATTTTA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding		687		chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG03453.hp2 others(5): Show HG01891.hp1 HG02717.hp2 HG03453.hp2 HG03669.hp1 NA18970.hp1 NA18970.hp2 NA18988.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0268 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0003g0014 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0002t0004g0112	8	40	0.2000	15	c.25+ others(30): Show c.25+9612_25+9626dupAAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30078719	G G	GGTAGAAA others(8): Show GGTAGAAAAGACAGAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp2 NA19001.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0010 a0001c0001t0001g0208	2	246	0.0081	15	c.302 others(32): Show c.3027+226_3027+240dupCAGATGTAGAAAAGA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096678	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0136 a0005c0007t0002g0136	1	240	0.0042	15	c.432 others(34): Show c.4321+3742_4321+3743insATATATATATATATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22			chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0160 a0007c0007t0001g0160	1	47	0.0213	15	c.303 others(34): Show c.3032+3719_3032+3733dupAAAAAAAAAAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43614177	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG03130.hp2 others(6): Show HG02572.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 NA18967.hp1 NA19030.hp2 NA20129.hp1	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0013 a0024 a0026	a0001c0001 a0006c0006 a0007c0007 others(4): Show a0001c0001 a0006c0006 a0007c0007 a0007c0014 a0013c0018 a0024c0036 a0026c0042	a0001c0001t0001 a0006c0006t0001 a0007c0007t0001 others(4): Show a0001c0001t0001 a0006c0006t0001 a0007c0007t0001 a0007c0014t0002 a0013c0018t0001 a0024c0036t0001 a0026c0042t0001	a0001c0001t0001g0255 a0006c0006t0001g0271 a0006c0006t0001g0273 others(6): Show a0001c0001t0001g0255 a0006c0006t0001g0271 a0006c0006t0001g0273 a0007c0007t0001g0158 a0007c0014t0002g0015 a0007c0014t0002g0017 a0013c0018t0001g0090 a0024c0036t0001g0138 a0026c0042t0001g0275	9	68	0.1324	15	c.256 others(34): Show c.2562+1634_2562+1648dupTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	21/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32905759	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp2 others(42): Show HG00280.hp1 HG00280.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG04199.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1 NA19085.hp2 NA20129.hp2	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0014 a0015 a0016 a0018 a0019 a0021 a0022 a0025 a0032 a0036 a0038 a0042 a0048 a0050	a0002c0002 a0003c0003 a0004c0004 others(16): Show a0002c0002 a0003c0003 a0004c0004 a0005c0013 a0006c0005 a0014c0019 a0015c0020 a0016c0026 a0018c0014 a0019c0017 a0021c0061 a0022c0031 a0025c0027 a0032c0060 a0036c0059 a0038c0044 a0042c0067 a0048c0039 a0050c0038	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(19): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0004c0004t0001 a0004c0004t0003 a0005c0013t0001 a0006c0005t0003 a0014c0019t0005 a0015c0020t0003 a0016c0026t0001 a0018c0014t0002 a0019c0017t0007 a0021c0061t0001 a0022c0031t0002 a0025c0027t0003 a0032c0060t0001 a0036c0059t0003 a0038c0044t0002 a0042c0067t0004 a0048c0039t0002 a0050c0038t0002	a0002c0002t0001g0192 a0002c0002t0001g0263 a0002c0002t0001g0269 others(42): Show a0002c0002t0001g0192 a0002c0002t0001g0263 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0002g0039 a0002c0002t0002g0048 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0003g0265 a0002c0002t0003g0274 a0003c0003t0002g0137 a0004c0004t0001g0091 a0004c0004t0003g0060 a0004c0004t0003g0061 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0074 a0004c0004t0003g0078 a0004c0004t0003g0082 a0004c0004t0003g0087 a0004c0004t0003g0089 a0004c0004t0003g0191 a0005c0013t0001g0202 a0006c0005t0003g0066 a0006c0005t0003g0070 a0006c0005t0003g0071 a0006c0005t0003g0075 a0006c0005t0003g0076 a0006c0005t0003g0239 a0014c0019t0005g0221 a0014c0019t0005g0234 a0015c0020t0003g0081 a0015c0020t0003g0256 a0016c0026t0001g0281 a0018c0014t0002g0042 a0019c0017t0007g0219 a0021c0061t0001g0240 a0022c0031t0002g0232 a0025c0027t0003g0094 a0032c0060t0001g0080 a0036c0059t0003g0072 a0038c0044t0002g0204 a0042c0067t0004g0193 a0048c0039t0002g0045 a0050c0038t0002g0262	45	158	0.2848	15	c.108 others(32): Show c.1089-789_1089-788insAAAAAAAAAAAAAAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935192	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0005 a0014c0019t0005	a0014c0019t0005g0221 a0014c0019t0005g0221	1	115	0.0087	15	c.279 others(34): Show c.2790+3867_2790+3881dupTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55904966	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG02922.hp1 others(1): Show HG00738.hp2 HG01070.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0004t0010 a0001c0001t0002 a0001c0002t0001 a0001c0004t0010	a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0002t0001g0089 others(1): Show a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0002t0001g0089 a0001c0004t0010g0291	4	338	0.0118	15	c.517 others(34): Show c.517+12698_517+12699insAAAAAAAAAAAAAAA	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11			chr2	TogoVar
EFHB_chr3_19874472_19939217	19892855	C C	CTAAAATA others(8): Show CTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02717.hp1 others(3): Show HG02145.hp1 HG02622.hp2 HG02717.hp1 HG02976.hp1 HG03139.hp1 HG06807.hp2	a0007 a0009 a0007 a0009	a0007c0008 a0009c0012 a0007c0008 a0009c0012	a0007c0008t0001 a0009c0012t0002 a0007c0008t0001 a0009c0012t0002	a0007c0008t0001g0020 a0007c0008t0001g0083 a0007c0008t0001g0087 others(2): Show a0007c0008t0001g0020 a0007c0008t0001g0083 a0007c0008t0001g0087 a0009c0012t0002g0260 a0009c0012t0002g0261	6	316	0.0190	15	c.172 others(34): Show c.1725+3817_1725+3831dupTTTTATTTTATTTTA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	167	0.0060	15	c.128 others(34): Show c.1289-2850_1289-2849insTTCTTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFL1_chr15_82125233_82267734	82133566	T T	TGTTAACA others(8): Show TGTTAACATTGGGGAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0157 a0003c0004t0001g0157	1	366	0.0027	15	c.317 others(34): Show c.3175-3020_3175-3006dupTTCCCCAATGTTAAC	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	19/19			chr15	TogoVar
EFL1_chr15_82125233_82267734	82198579	G G	GTCACTTA others(8): Show GTCACTTAAAGCAACC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	366	0.0027	15	c.175 others(36): Show c.1750+16137_1750+16138insGGTTGCTTTAAGTGA	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107395034	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18994.hp1 HG00280.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0162 a0001c0001t0003g0148 a0001c0001t0001g0162 a0001c0001t0003g0148	2	50	0.0400	15	c.419 others(32): Show c.419-7278_419-7264dupAAAAAAAAAAAAAAA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107399318	C C	CGGAAAGG others(8): Show CGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00558.hp1 others(27): Show HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 NA18950.hp1 NA18965.hp2 NA18982.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0044 a0001c0001t0049 a0001c0001t0064 a0001c0001t0072 a0001c0001t0084	a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0147 others(27): Show a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0003g0068 a0001c0001t0003g0125 a0001c0001t0003g0179 a0001c0001t0005g0119 a0001c0001t0005g0142 a0001c0001t0009g0023 a0001c0001t0009g0035 a0001c0001t0009g0053 a0001c0001t0009g0118 a0001c0001t0011g0061 a0001c0001t0011g0079 a0001c0001t0011g0178 a0001c0001t0016g0106 a0001c0001t0017g0087 a0001c0001t0017g0101 a0001c0001t0018g0149 a0001c0001t0019g0160 a0001c0001t0020g0114 a0001c0001t0022g0155 a0001c0001t0024g0067 a0001c0001t0024g0117 a0001c0001t0044g0037 a0001c0001t0049g0024 a0001c0001t0064g0188 a0001c0001t0072g0168 a0001c0001t0084g0062	30	82	0.3659	15	c.419 others(34): Show c.419-11562_419-11548dupTTTCCTTTCCTTTCC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107435315	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0087	1	93	0.0108	15	c.126 others(32): Show c.126-7821_126-7807dupAAAAAAAAAAAAAAA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107448866	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 a0001c0001t0003 a0001c0001t0017 a0001c0001t0021	a0001c0001t0003g0068 a0001c0001t0017g0101 a0001c0001t0021g0064 a0001c0001t0003g0068 a0001c0001t0017g0101 a0001c0001t0021g0064	3	96	0.0313	15	c.126 others(34): Show c.126-21372_126-21358dupTATTTTATTTTATTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107516174	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	9	0.1111	15	c.126 others(34): Show c.126-88666_126-88665insCACACACACACACAC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107617258	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0025 a0001c0001t0043g0025	1	190	0.0053	15	c.125 others(34): Show c.125+53230_125+53231insCTCTCTCTCTCTCTC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132013969	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03139.hp2 NA18522.hp1 others(2): Show HG02818.hp1 HG03139.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0017 a0003c0004t0008 a0003c0004t0017	a0003c0004t0008g0096 a0003c0004t0008g0147 a0003c0004t0008g0148 others(2): Show a0003c0004t0008g0096 a0003c0004t0008g0147 a0003c0004t0008g0148 a0003c0004t0017g0281 a0003c0004t0017g0282	5	314	0.0159	15	c.30 others(26): Show c.3074_*3075insAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		328		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01993.hp1 HG00642.hp2 HG00738.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0016 a0001c0003t0003 a0001c0003t0016	a0001c0003t0003g0039 a0001c0003t0003g0044 a0001c0003t0016g0291 a0001c0003t0003g0039 a0001c0003t0003g0044 a0001c0003t0016g0291	3	271	0.0111	15	c.30 others(26): Show c.3082_*3083insAAAAAAAAAAAAAAT	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		336		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	AAAAATAT others(8): Show AAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18949.hp1 NA18950.hp1 others(1): Show HG04204.hp1 NA18949.hp1 NA18950.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0169 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0211	4	272	0.0147	15	c.30 others(26): Show c.3082_*3083insAAAATATATATATAT	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		336		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp1 HG01934.hp1 others(12): Show HG01169.hp1 HG01884.hp1 HG01934.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG02976.hp1 HG03471.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0039 a0001c0002t0001 a0001c0002t0004 a0001c0002t0035 a0001c0010t0005	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0005g0164 others(12): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0005g0164 a0001c0001t0005g0173 a0001c0001t0005g0195 a0001c0001t0015g0204 a0001c0001t0017g0064 a0001c0001t0017g0138 a0001c0001t0039g0210 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0207 a0001c0002t0004g0175 a0001c0002t0035g0177 a0001c0010t0005g0162	15	81	0.1852	15	c.8-1 others(30): Show c.8-11028_8-11014dupTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFTUD2_chr17_44844948_44904445	44849758	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	245	0.0041	15	c.15 others(26): Show c.1501_*1515dupTTTTTTTTTTTTTTT	EFTUD2	ENSG00000108883.13	transcript	ENST00000426333.7	protein_coding		189		chr17	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG03453.hp1 others(1): Show HG02280.hp2 HG02451.hp1 HG03453.hp1 HG03471.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 others(1): Show a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0008c0015t0007	a0002c0003t0004g0234 a0002c0003t0005g0053 a0002c0003t0007g0011 others(1): Show a0002c0003t0004g0234 a0002c0003t0005g0053 a0002c0003t0007g0011 a0008c0015t0007g0010	4	65	0.0615	15	c.118 others(32): Show c.1184-441_1184-427dupTTTTTTTTTTTTTTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL7_chr9_136657916_136677678	136672492	C C	CCCCTGGC others(8): Show CCCCTGGCTACCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0121 a0001c0001t0018g0121	1	430	0.0023	15	c.22 others(24): Show c.220_*234dupCACCCTGGCTACCCC	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	11/11	235	INFO_REALIGN_3_PRIME	chr9	TogoVar
EGFR_chr7_55014017_55216628	55027991	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0034 a0001c0016t0001g0034	1	150	0.0067	15	c.88+ others(30): Show c.88+8626_88+8627insTATATATATATATAT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27			chr7	TogoVar
EGFR_chr7_55014017_55216628	55187304	A A	ATCTAAGT others(8): Show ATCTAAGTCAGTGCCG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02922.hp2 HG03579.hp1 HG01993.hp1 HG02922.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0022 a0001c0043t0001 a0001c0001t0022 a0001c0043t0001	a0001c0001t0022g0014 a0001c0001t0022g0246 a0001c0043t0001g0205 a0001c0001t0022g0014 a0001c0001t0022g0246 a0001c0043t0001g0205	3	134	0.0224	15	c.247 others(34): Show c.2470-4412_2470-4411insAAGTCAGTGCCGTCT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55187304	A A	ATCTAAGT others(8): Show ATCTAAGTCAGTGCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(111): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18945.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0014 a0001c0015 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0030 a0001c0032 a0001c0035 a0001c0039 a0001c0042 a0002c0006 a0002c0008 a0002c0017 a0002c0026 a0002c0027 a0002c0038 a0003c0045 a0004c0029	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(69): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0023 a0001c0003t0056 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0004t0025 a0001c0004t0045 a0001c0004t0048 a0001c0004t0060 a0001c0004t0065 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0006 a0001c0005t0008 a0001c0005t0013 a0001c0005t0020 a0001c0005t0025 a0001c0005t0032 a0001c0007t0003 a0001c0007t0005 a0001c0007t0006 a0001c0007t0009 a0001c0007t0010 a0001c0007t0013 a0001c0007t0046 a0001c0012t0004 a0001c0012t0057 a0001c0014t0003 a0001c0014t0008 a0001c0014t0020 a0001c0015t0001 a0001c0020t0001 a0001c0020t0004 a0001c0021t0003 a0001c0021t0020 a0001c0022t0001 a0001c0022t0054 a0001c0023t0024 a0001c0030t0001 a0001c0032t0003 a0001c0035t0003 a0001c0039t0006 a0001c0042t0004 a0002c0006t0002 a0002c0006t0005 a0002c0006t0009 a0002c0006t0010 a0002c0008t0002 a0002c0008t0006 a0002c0008t0009 a0002c0008t0037 a0002c0008t0038 a0002c0008t0044 a0002c0008t0047 a0002c0008t0052 a0002c0008t0062 a0002c0017t0007 a0002c0017t0014 a0002c0026t0003 a0002c0027t0004 a0002c0038t0001 a0003c0045t0013 a0004c0029t0040	a0001c0001t0001g0080 a0001c0001t0003g0001 a0001c0001t0003g0003 others(110): Show a0001c0001t0001g0080 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0076 a0001c0003t0001g0240 a0001c0003t0023g0247 a0001c0003t0056g0179 a0001c0004t0001g0007 a0001c0004t0001g0053 a0001c0004t0001g0166 a0001c0004t0003g0077 a0001c0004t0003g0117 a0001c0004t0003g0194 a0001c0004t0004g0130 a0001c0004t0004g0162 a0001c0004t0005g0082 a0001c0004t0006g0017 a0001c0004t0006g0104 a0001c0004t0008g0065 a0001c0004t0008g0066 a0001c0004t0008g0068 a0001c0004t0008g0069 a0001c0004t0008g0070 a0001c0004t0008g0071 a0001c0004t0010g0229 a0001c0004t0016g0075 a0001c0004t0025g0015 a0001c0004t0045g0168 a0001c0004t0048g0088 a0001c0004t0060g0106 a0001c0004t0065g0067 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0003g0010 a0001c0005t0003g0012 a0001c0005t0003g0016 a0001c0005t0003g0048 a0001c0005t0003g0118 a0001c0005t0003g0185 a0001c0005t0004g0112 a0001c0005t0004g0138 a0001c0005t0006g0049 a0001c0005t0006g0079 a0001c0005t0006g0097 a0001c0005t0006g0101 a0001c0005t0008g0131 a0001c0005t0013g0226 a0001c0005t0020g0128 a0001c0005t0025g0242 a0001c0005t0032g0231 a0001c0007t0003g0215 a0001c0007t0005g0005 a0001c0007t0005g0036 a0001c0007t0006g0042 a0001c0007t0006g0081 a0001c0007t0009g0020 a0001c0007t0009g0041 a0001c0007t0009g0146 a0001c0007t0010g0227 a0001c0007t0013g0233 a0001c0007t0013g0234 a0001c0007t0046g0019 a0001c0012t0004g0161 a0001c0012t0057g0178 a0001c0014t0003g0011 a0001c0014t0003g0094 a0001c0014t0008g0175 a0001c0014t0020g0084 a0001c0015t0001g0026 a0001c0015t0001g0027 a0001c0015t0001g0078 a0001c0015t0001g0110 a0001c0020t0001g0158 a0001c0020t0004g0182 a0001c0021t0003g0089 a0001c0021t0020g0157 a0001c0022t0001g0018 a0001c0022t0054g0211 a0001c0023t0024g0208 a0001c0030t0001g0177 a0001c0032t0003g0214 a0001c0035t0003g0004 a0001c0039t0006g0006 a0001c0042t0004g0155 a0002c0006t0002g0052 a0002c0006t0005g0087 a0002c0006t0005g0149 a0002c0006t0005g0150 a0002c0006t0005g0151 a0002c0006t0005g0197 a0002c0006t0005g0198 a0002c0006t0009g0083 a0002c0006t0009g0090 a0002c0006t0009g0093 a0002c0006t0009g0165 a0002c0006t0010g0218 a0002c0008t0002g0100 a0002c0008t0006g0248 a0002c0008t0009g0098 a0002c0008t0037g0059 a0002c0008t0038g0043 a0002c0008t0044g0054 a0002c0008t0047g0115 a0002c0008t0052g0212 a0002c0008t0062g0172 a0002c0017t0007g0188 a0002c0017t0014g0127 a0002c0017t0014g0129 a0002c0026t0003g0114 a0002c0027t0004g0148 a0002c0038t0001g0092 a0003c0045t0013g0238 a0004c0029t0040g0207	114	245	0.4653	15	c.247 others(34): Show c.2470-4412_2470-4411insAAGTCAGTGCTGTCT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(28): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02148.hp1 HG02257.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp2 HG06807.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0019 a0001c0039 a0002c0002 a0002c0008 a0003c0045	a0001c0001t0028 a0001c0004t0006 a0001c0004t0008 others(19): Show a0001c0001t0028 a0001c0004t0006 a0001c0004t0008 a0001c0004t0045 a0001c0004t0060 a0001c0005t0003 a0001c0005t0006 a0001c0005t0013 a0001c0005t0020 a0001c0005t0032 a0001c0007t0006 a0001c0007t0013 a0001c0007t0046 a0001c0014t0003 a0001c0014t0008 a0001c0014t0020 a0001c0019t0006 a0001c0039t0006 a0002c0002t0001 a0002c0008t0006 a0002c0008t0038 a0003c0045t0013	a0001c0001t0028g0144 a0001c0004t0006g0104 a0001c0004t0008g0066 others(28): Show a0001c0001t0028g0144 a0001c0004t0006g0104 a0001c0004t0008g0066 a0001c0004t0008g0069 a0001c0004t0008g0070 a0001c0004t0045g0168 a0001c0004t0060g0106 a0001c0005t0003g0012 a0001c0005t0003g0118 a0001c0005t0003g0185 a0001c0005t0006g0049 a0001c0005t0006g0079 a0001c0005t0006g0097 a0001c0005t0006g0101 a0001c0005t0013g0226 a0001c0005t0020g0128 a0001c0005t0032g0231 a0001c0007t0006g0081 a0001c0007t0013g0233 a0001c0007t0013g0234 a0001c0007t0046g0019 a0001c0014t0003g0094 a0001c0014t0008g0175 a0001c0014t0020g0084 a0001c0019t0006g0095 a0001c0019t0006g0116 a0001c0039t0006g0006 a0002c0002t0001g0038 a0002c0008t0006g0248 a0002c0008t0038g0043 a0003c0045t0013g0238	31	50	0.6200	15	c.270 others(34): Show c.2702-2538_2702-2524dupTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109951146	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02723.hp1 others(6): Show HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG06807.hp2 NA19030.hp2	a0001 a0002 a0025 a0001 a0002 a0025	a0001c0001 a0002c0002 a0025c0028 a0001c0001 a0002c0002 a0025c0028	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0020 a0001c0001t0034 a0002c0002t0001 a0025c0028t0001	a0001c0001t0002g0124 a0001c0001t0007g0118 a0001c0001t0007g0121 others(6): Show a0001c0001t0002g0124 a0001c0001t0007g0118 a0001c0001t0007g0121 a0001c0001t0012g0232 a0001c0001t0020g0011 a0001c0001t0020g0230 a0001c0001t0034g0011 a0002c0002t0001g0015 a0025c0028t0001g0016	9	106	0.0849	15	c.940 others(32): Show c.940+5912_940+5926dupAAAATAAAATAAAAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109970824	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0236 a0001c0001t0022g0236	1	139	0.0072	15	c.172 others(34): Show c.1724+1713_1724+1727dupAAAAAAAAAAAAAAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231391092	T T	TTTTTGTG others(8): Show TTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0095	1	125	0.0080	15	c.892 others(34): Show c.892-16994_892-16993insCACACACACACAAAA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EGLN1_chr1_231358756_231427287	231406165	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0095	1	139	0.0072	15	c.891 others(34): Show c.891+14832_891+14833insTTTTTTTTTTTTTTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EHBP1_chr2_62700713_63051487	62895278	T T	TATCATCA others(8): Show TATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	114	0.0088	15	c.118 others(36): Show c.1185+20774_1185+20788dupATCATCATCATCATC	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02809.hp2 others(1): Show HG02622.hp1 HG02717.hp1 HG02809.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0003 a0002c0007t0003 a0001c0002t0003 a0002c0007t0003	a0001c0002t0003g0027 a0001c0002t0003g0225 a0001c0002t0003g0288 others(1): Show a0001c0002t0003g0027 a0001c0002t0003g0225 a0001c0002t0003g0288 a0002c0007t0003g0032	4	285	0.0140	15	c.915 others(32): Show c.915+5056_915+5057insAAAAAAAAAAATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0289 a0001c0002t0003g0289	1	282	0.0035	15	c.915 others(32): Show c.915+5056_915+5057insAAAAAAAAATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47733751	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp2 HG02015.hp2 others(5): Show HG00673.hp1 HG01358.hp2 HG02015.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp2 HG03834.hp1 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0009 a0001c0001 a0001c0011 a0002c0009	a0001c0001t0001 a0001c0011t0012 a0002c0009t0001 a0001c0001t0001 a0001c0011t0012 a0002c0009t0001	a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0136 a0001c0001t0001g0267 a0001c0011t0012g0077 a0002c0009t0001g0131	8	86	0.0930	15	c.916 others(32): Show c.916-2608_916-2594dupAAAAAAAAAAAAAAA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31243460	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0205 a0001c0001t0067g0205	1	55	0.0182	15	c.228 others(30): Show c.228-811_228-810insCTTTCTTTCTTTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31243460	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0176 a0001c0001t0007g0176	1	55	0.0182	15	c.228 others(30): Show c.228-811_228-810insCTTTCTTTTTTTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31243460	C C	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02897.hp1 HG02976.hp2 others(1): Show HG02717.hp2 HG02897.hp1 HG02976.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0028 a0001c0001t0002 a0001c0001t0010 a0001c0001t0028	a0001c0001t0002g0156 a0001c0001t0010g0153 a0001c0001t0010g0155 others(1): Show a0001c0001t0002g0156 a0001c0001t0010g0153 a0001c0001t0010g0155 a0001c0001t0028g0154	4	58	0.0690	15	c.228 others(30): Show c.228-811_228-810insCTTTTTTTTTTTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41973311	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0074 a0001c0002t0012g0074	1	307	0.0033	15	c.-81 others(24): Show c.-818_-817insCAACAACAACAACAA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding		755		chr15	TogoVar

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