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
ENOX1_chr13_43208130_43791972	43616170	C C	CTAGATAG others(11): Show CTAGATAGATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0002 a0001c0002t0029g0002	1	188	0.0053	18	c.-21 others(39): Show c.-219+51308_-219+51309insTATATATATATCTATCTA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43651695	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01258.hp1 HG01978.hp2 others(25): Show HG00609.hp1 HG01258.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02083.hp2 HG02273.hp2 HG02615.hp2 HG02818.hp1 HG02922.hp2 HG03540.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp2 NA18906.hp1 NA18944.hp2 NA18959.hp2 NA18961.hp1 NA18977.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0022 a0001c0001t0034 a0001c0002t0001 a0001c0002t0029	a0001c0001t0001g0080 a0001c0001t0002g0010 a0001c0001t0002g0031 others(25): Show a0001c0001t0001g0080 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0003g0097 a0001c0001t0003g0118 a0001c0001t0004g0035 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0116 a0001c0001t0007g0134 a0001c0001t0007g0157 a0001c0001t0008g0025 a0001c0001t0017g0075 a0001c0001t0022g0005 a0001c0001t0034g0148 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0029g0002	28	188	0.1489	18	c.-21 others(39): Show c.-219+15783_-219+15784insTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43719302	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02647.hp2 NA18944.hp1 HG00609.hp1 HG02647.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0027 a0001c0001t0002 a0001c0001t0009 a0001c0002t0027	a0001c0001t0002g0031 a0001c0001t0009g0019 a0001c0002t0027g0121 a0001c0001t0002g0031 a0001c0001t0009g0019 a0001c0002t0027g0121	3	188	0.0160	18	c.-28 others(39): Show c.-284-51776_-284-51759dupGTGTGTGTGTGTGTGTGT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(11): Show ATATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp2 HG03453.hp1 others(4): Show HG01975.hp2 HG01978.hp2 HG03453.hp1 NA18522.hp2 NA18953.hp2 NA18993.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0054 a0002c0002t0002 a0002c0004t0023	a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0002g0097 others(4): Show a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0002g0097 a0001c0001t0012g0270 a0001c0001t0054g0268 a0002c0002t0002g0269 a0002c0004t0023g0098	7	292	0.0240	18	c.240 others(35): Show c.240+3143_240+3160dupCTATATCTATATCTATAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131877866	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	292	0.0034	18	c.189 others(35): Show c.1894-675_1894-674insAAAATATATATATATATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP2_chr8_119552086_119643839	119554357	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	340	0.0029	18	c.31 others(29): Show c.3163_*3164insAAAAAAAAAAAAAAAAAA	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding		2728		chr8	TogoVar
ENPP2_chr8_119552086_119643839	119573408	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	340	0.0029	18	c.178 others(37): Show c.1781-2585_1781-2568dupTTTTTTTTTTTTTTTTTT	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	19/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131646274	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	278	0.0036	18	c.155 others(35): Show c.155-3735_155-3718dupGTGTGTGTGTGTGTGTGT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131699235	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02148.hp1 HG03239.hp2 others(19): Show HG00423.hp1 HG02148.hp1 HG03239.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18970.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19006.hp2 NA19057.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0042 others(19): Show a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0134 a0001c0002t0001g0246 a0001c0002t0001g0261 a0001c0010t0001g0057 a0001c0010t0001g0068	22	278	0.0791	18	c.141 others(37): Show c.1412+5615_1412+5632dupAAAAAAAAAAAAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131724226	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG03130.hp1 HG02055.hp1 HG02886.hp1 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0001 a0006c0009t0001 a0001c0002t0001 a0006c0009t0001	a0001c0002t0001g0175 a0006c0009t0001g0066 a0006c0009t0001g0193 a0001c0002t0001g0175 a0006c0009t0001g0066 a0006c0009t0001g0193	3	278	0.0108	18	c.179 others(35): Show c.1798+148_1798+149insAAAAAAAAAAAAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTHD1_chr22_39738044_39898760	39757576	C C	CTGAGGCA others(11): Show CTGAGGCAGGAGAATCACT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	218	0.0046	18	c.121 others(37): Show c.1219+7629_1219+7646dupAGTGATTCTCCTGCCTCA	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	6/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19077.hp1 NA19089.hp1 NA19010.hp2 NA19077.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0172	3	218	0.0138	18	c.833 others(33): Show c.833-428_833-411dupTTTTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39784543	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	218	0.0046	18	c.833 others(37): Show c.833-18952_833-18935dupGTGTGTGTGTGTGTGTGT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39814295	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	218	0.0046	18	c.832 others(35): Show c.832+6697_832+6698insTTTTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01192.hp2 others(7): Show HG00642.hp2 HG01071.hp1 HG01192.hp2 HG02135.hp1 HG03491.hp2 NA18945.hp2 NA18970.hp1 NA18977.hp1 NA19058.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0033 a0001c0001t0004 a0001c0001t0016 a0001c0001t0033	a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0191 others(5): Show a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0016g0193 a0001c0001t0033g0192	10	340	0.0294	18	c.16+ others(33): Show c.16+1758_16+1775dupAAAAAAAAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95856651	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0022 a0001c0001t0060g0022	1	340	0.0029	18	c.107 others(37): Show c.1075-3814_1075-3797dupTATATATATATATATATA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95856671	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp2 HG01516.hp2 others(4): Show HG01109.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0017 a0001c0001t0011g0018 others(2): Show a0001c0001t0011g0001 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0011g0020 a0001c0001t0011g0021	7	340	0.0206	18	c.107 others(37): Show c.1075-3797_1075-3796insTATATATATATATATACA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD4_chr8_23424162_23462647	23425049	A A	AGTATTCC others(11): Show AGTATTCCATGGCAGTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01978.hp1 HG00738.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0005 a0001c0004t0006g0005	2	412	0.0049	18	c.78 others(29): Show c.7876_*7877insAATACTGCCATGGAATAC	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		4112		chr8	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01071.hp2 others(18): Show HG00323.hp2 HG00423.hp2 HG01071.hp2 HG01952.hp1 HG02004.hp1 HG02083.hp2 HG02148.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG03516.hp1 HG03669.hp1 HG06807.hp1 NA18950.hp1 NA18988.hp1 NA18994.hp1 NA18999.hp2 NA19003.hp1 NA19072.hp2 NA19076.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0019 a0001c0001t0036 others(5): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0101 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0019g0040 a0001c0001t0036g0121 a0001c0001t0037g0113 a0001c0001t0038g0117 a0001c0001t0040g0096 a0001c0001t0041g0158 a0002c0002t0003g0003	21	412	0.0510	18	c.57 others(29): Show c.5784_*5801dupTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD5_chr14_73958230_74024288	73995585	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0311 a0001c0002t0002g0311	1	380	0.0026	18	c.-70 others(35): Show c.-70-7431_-70-7414dupATTATTATTATTATTATT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD5_chr14_73958230_74024288	74005364	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	380	0.0026	18	c.-71 others(35): Show c.-71+5726_-71+5727insTTTTTTTTTTTTTTTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD8_chr9_137429364_137446357	137440650	C C	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0009 a0012	a0001c0001 a0001c0007 a0001c0010 others(7): Show a0001c0001 a0001c0007 a0001c0010 a0001c0013 a0001c0019 a0001c0020 a0003c0003 a0005c0008 a0009c0012 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0007t0009 a0001c0010t0002 a0001c0013t0002 a0001c0019t0002 a0001c0020t0002 a0003c0003t0002 a0003c0003t0012 a0005c0008t0001 a0009c0012t0004 a0012c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 others(57): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0003g0133 a0001c0001t0004g0012 a0001c0001t0005g0073 a0001c0001t0005g0154 a0001c0001t0007g0131 a0001c0001t0007g0141 a0001c0001t0011g0134 a0001c0007t0009g0136 a0001c0010t0002g0030 a0001c0013t0002g0071 a0001c0019t0002g0078 a0001c0020t0002g0074 a0003c0003t0002g0028 a0003c0003t0002g0066 a0003c0003t0012g0075 a0005c0008t0001g0042 a0009c0012t0004g0132 a0012c0016t0001g0143	168	392	0.4286	18	c.-21 others(33): Show c.-21+618_-21+635dupCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440816	G G	GCCCCCAG others(11): Show GCCCCCAGACCAGGACAGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	392	0.0026	18	c.-21 others(33): Show c.-21+469_-21+470insGCTGTCCTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440835	C C	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01993.hp2 others(29): Show HG00280.hp2 HG00544.hp1 HG01993.hp2 HG02027.hp2 HG02132.hp1 HG02132.hp2 HG02622.hp1 HG02717.hp2 HG02965.hp2 HG03453.hp2 HG03669.hp1 HG03831.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA19002.hp2 NA19003.hp2 NA19057.hp1 NA19064.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0009 a0001c0001 a0003c0003 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0003c0003t0012 a0006c0009t0006	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0056 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0003c0003t0002g0069 a0003c0003t0012g0075 a0006c0009t0006g0026	32	392	0.0816	18	c.-21 others(33): Show c.-21+433_-21+450dupCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440873	C C	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0051 a0001c0005t0003g0051	1	392	0.0026	18	c.-21 others(33): Show c.-21+395_-21+412dupCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441146	C C	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0052 a0004c0004t0002g0053 a0004c0004t0002g0052 a0004c0004t0002g0053	2	392	0.0051	18	c.-21 others(33): Show c.-21+122_-21+139dupCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29218582	T T	TCACCAAA others(11): Show TCACCAAAACAGCATAATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	125	0.0080	18	c.388 others(37): Show c.388-22036_388-22019dupTATTATGCTGTTTTGGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29264154	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG02155.hp2 others(1): Show HG00741.hp1 HG01167.hp2 HG02155.hp2 NA19065.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0013t0024	a0001c0001t0001g0042 a0001c0001t0002g0099 a0001c0001t0004g0022 others(1): Show a0001c0001t0001g0042 a0001c0001t0002g0099 a0001c0001t0004g0022 a0004c0013t0024g0010	4	125	0.0320	18	c.277 others(37): Show c.277-11677_277-11676insTTTTTTTTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29356268	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0100 a0002c0005t0005g0100	1	125	0.0080	18	c.276 others(37): Show c.276+25489_276+25506dupTATATATATATATATATA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29371349	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp2 HG03098.hp1 others(1): Show HG02145.hp2 HG02965.hp2 HG03098.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0012 a0003c0014 a0001c0010 a0002c0012 a0003c0014	a0001c0010t0004 a0002c0012t0009 a0003c0014t0002 a0001c0010t0004 a0002c0012t0009 a0003c0014t0002	a0001c0010t0004g0018 a0002c0012t0009g0091 a0002c0012t0009g0092 others(1): Show a0001c0010t0004g0018 a0002c0012t0009g0091 a0002c0012t0009g0092 a0003c0014t0002g0103	4	125	0.0320	18	c.276 others(37): Show c.276+10408_276+10425dupGTGTGTGTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29377823	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0051 a0003c0014t0051	a0003c0014t0051g0124 a0003c0014t0051g0124	1	125	0.0080	18	c.276 others(35): Show c.276+3934_276+3951dupATTATTATTATTATTATT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402251	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01169.hp1 others(2): Show HG00099.hp1 HG01109.hp2 HG01169.hp1 HG02257.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0002t0043 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0043 a0001c0010t0001 a0002c0004t0003	a0001c0001t0001g0098 a0001c0002t0043g0113 a0001c0010t0001g0073 others(2): Show a0001c0001t0001g0098 a0001c0002t0043g0113 a0001c0010t0001g0073 a0001c0010t0001g0088 a0002c0004t0003g0119	5	125	0.0400	18	c.220 others(37): Show c.220-20421_220-20420insATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402265	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0006 a0005c0016t0006	a0005c0016t0006g0079 a0005c0016t0006g0079	1	125	0.0080	18	c.220 others(37): Show c.220-20435_220-20434insGTGTGTATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402265	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp1 HG03579.hp2 HG02976.hp1 HG03540.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0002c0012 a0003c0007 a0002c0005 a0002c0012 a0003c0007	a0002c0005t0005 a0002c0012t0009 a0003c0007t0002 a0002c0005t0005 a0002c0012t0009 a0003c0007t0002	a0002c0005t0005g0057 a0002c0012t0009g0061 a0003c0007t0002g0087 a0002c0005t0005g0057 a0002c0012t0009g0061 a0003c0007t0002g0087	3	125	0.0240	18	c.220 others(37): Show c.220-20435_220-20434insGTATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29566846	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02280.hp1 others(2): Show HG01891.hp2 HG02145.hp2 HG02280.hp1 HG03139.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0002c0004 others(1): Show a0001c0010 a0002c0003 a0002c0004 a0002c0005	a0001c0010t0004 a0002c0003t0013 a0002c0003t0021 others(2): Show a0001c0010t0004 a0002c0003t0013 a0002c0003t0021 a0002c0004t0037 a0002c0005t0026	a0001c0010t0004g0018 a0002c0003t0013g0017 a0002c0003t0021g0016 others(2): Show a0001c0010t0004g0018 a0002c0003t0013g0017 a0002c0003t0021g0016 a0002c0004t0037g0066 a0002c0005t0026g0011	5	125	0.0400	18	c.219 others(35): Show c.219+3641_219+3658dupGTGTGTGTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG02293.hp2 others(2): Show HG00741.hp1 HG01175.hp1 HG02293.hp2 HG03486.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0182 a0001c0001t0001g0210 a0001c0001t0001g0022 a0001c0001t0001g0182 a0001c0001t0001g0210	5	395	0.0127	18	c.622 others(33): Show c.622-786_622-785insTATATATATATATATACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTATGT others(11): Show GTGTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	395	0.0025	18	c.622 others(33): Show c.622-786_622-785insTATATATATATACATACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18944.hp1 NA18960.hp1 others(3): Show HG03942.hp1 NA18944.hp1 NA18960.hp1 NA18970.hp2 NA18988.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0160 a0001c0001t0001g0217 a0001c0001t0001g0014 a0001c0001t0001g0160 a0001c0001t0001g0217	6	395	0.0152	18	c.622 others(33): Show c.622-786_622-785insTATATATATATATACACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	395	0.0025	18	c.622 others(33): Show c.622-818_622-817insAAAATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109347520	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18954.hp2 NA18952.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	428	0.0047	18	c.40 others(29): Show c.4039_*4040insACACACACACACACACAC	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		1567		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(11): Show GATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	428	0.0023	18	c.59 others(29): Show c.5915_*5916insATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
EOGT_chr3_68970225_69018684	68976641	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01261.hp2 HG02145.hp2 others(13): Show HG00438.hp1 HG01261.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG03669.hp2 NA18948.hp2 NA18949.hp1 NA18993.hp2 NA18998.hp1 NA19001.hp1 NA19065.hp2 NA19079.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005	a0001c0001t0006 a0001c0001t0040 a0001c0002t0006 others(4): Show a0001c0001t0006 a0001c0001t0040 a0001c0002t0006 a0001c0003t0006 a0001c0004t0035 a0001c0009t0006 a0002c0005t0006	a0001c0001t0006g0015 a0001c0001t0006g0096 a0001c0001t0006g0172 others(11): Show a0001c0001t0006g0015 a0001c0001t0006g0096 a0001c0001t0006g0172 a0001c0001t0040g0208 a0001c0002t0006g0021 a0001c0002t0006g0285 a0001c0002t0006g0300 a0001c0002t0006g0306 a0001c0003t0006g0054 a0001c0003t0006g0125 a0001c0004t0035g0114 a0001c0004t0035g0115 a0001c0009t0006g0373 a0002c0005t0006g0248	16	444	0.0360	18	c.95 others(27): Show c.959_*976dupACACACACACACACACAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	18/18	976		chr3	TogoVar
EOGT_chr3_68970225_69018684	69016256	G G	GGTTTGTG others(11): Show GGTTTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG03017.hp2 HG04204.hp1 others(2): Show HG01069.hp1 HG03017.hp2 HG04204.hp1 NA18951.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0002t0001 a0001c0002t0004 a0001c0002t0018	a0001c0002t0001g0028 a0001c0002t0001g0308 a0001c0002t0001g0340 others(2): Show a0001c0002t0001g0028 a0001c0002t0001g0308 a0001c0002t0001g0340 a0001c0002t0004g0307 a0001c0002t0018g0344	5	444	0.0113	18	c.-30 others(29): Show c.-3039_-3038insACACACACACACACAAAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2573		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711284	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02523.hp2 HG02559.hp2 others(6): Show HG00544.hp2 HG02523.hp2 HG02559.hp2 NA18971.hp1 NA18978.hp1 NA19005.hp1 NA19011.hp1 NA19079.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0010g0067 a0002c0002t0002g0008 a0002c0002t0003g0039	9	400	0.0225	18	c.57 others(29): Show c.5785_*5786insTATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4668		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(11): Show ATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0014 a0003c0004t0003g0014	1	400	0.0025	18	c.57 others(29): Show c.5753_*5754insAATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41091488	C C	CCTTAAAA others(11): Show CCTTAAAATCCTCCCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0135 a0001c0005t0016g0135	1	300	0.0033	18	c.-15 others(29): Show c.-1517_-1516insCTTAAAATCCTCCCCACT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding		1103		chr22	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG02602.hp2 others(4): Show HG01175.hp2 HG01346.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02965.hp1 HG03710.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0003 a0007c0012 a0001c0002 a0002c0003 a0007c0012	a0001c0002t0013 a0001c0002t0014 a0001c0002t0032 others(2): Show a0001c0002t0013 a0001c0002t0014 a0001c0002t0032 a0002c0003t0001 a0007c0012t0018	a0001c0002t0013g0166 a0001c0002t0014g0167 a0001c0002t0032g0101 others(4): Show a0001c0002t0013g0166 a0001c0002t0014g0167 a0001c0002t0032g0101 a0002c0003t0001g0161 a0002c0003t0001g0163 a0002c0003t0001g0172 a0007c0012t0018g0143	7	300	0.0233	18	c.314 others(35): Show c.3143-613_3143-596dupTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0161	1	300	0.0033	18	c.387 others(35): Show c.3875-864_3875-863insGTATATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0173 a0002c0003t0001g0173	1	300	0.0033	18	c.387 others(35): Show c.3875-864_3875-863insGTGTATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03098.hp1 HG02738.hp2 HG03098.hp1	a0001 a0006 a0001 a0006	a0001c0049 a0006c0020 a0001c0049 a0006c0020	a0001c0049t0001 a0006c0020t0002 a0001c0049t0001 a0006c0020t0002	a0001c0049t0001g0198 a0006c0020t0002g0027 a0001c0049t0001g0198 a0006c0020t0002g0027	2	208	0.0096	18	c.902 others(37): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar

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