Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EML1_chr14_99788413_99947060	99919398	CCACACAC others(25): Show CCACACACACACATACGCATGCACACAGACACA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp2 HG01168.hp2 HG01175.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0101 a0002c0001t0002g0143 a0002c0001t0002g0101 a0002c0001t0002g0143	2	279	0.0072	-32	c.182 others(51): Show c.1821-1378_1821-1347delTACGCATGCACACAGACACACACACA CACACA		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML5_chr14_88607431_88797953	88796649	GTTATATG others(25): Show GTTATATGTTATATATTATATATATTATGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	294	0.0034	-32	c.-41 others(43): Show c.-4178_-4147delTATACATAATATATATAATATATAACATATAA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3697		chr14	TogoVar
EML5_chr14_88607431_88797953	88796778	TATTATAT others(25): Show TATTATATGTTATATATATTATATATTATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0045 a0001c0001t0003g0046	2	329	0.0061	-32	c.-43 others(43): Show c.-4307_-4276delGTATATAATATATAATATATATAACATATAAT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3826		chr14	TogoVar
EML6_chr2_54718662_54977025	54907930	AGATAGAT others(25): Show AGATAGATAGATAGATAAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0148 a0001c0003t0002g0148	1	223	0.0045	-32	c.341 others(51): Show c.3410-3023_3410-2992delGATAGATAGATAGATAAGATAGATAG ATAGAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
EML6_chr2_54718662_54977025	54907934	AGATAGAT others(25): Show AGATAGATAGATAAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0075 a0001c0002t0004g0075	1	247	0.0040	-32	c.341 others(51): Show c.3410-3019_3410-2988delGATAGATAGATAAGATAGATAGATAG ATAGAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(35): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01168.hp2 HG01515.hp1 HG01517.hp2 HG02074.hp2 HG02080.hp1 HG02257.hp1 HG02257.hp2 HG02523.hp2 HG02683.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp2 NA18939.hp1 NA18943.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18982.hp2 NA18994.hp2 NA18999.hp2 NA19010.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001 a0001c0004t0003 a0001c0004t0017 a0002c0005t0003	a0001c0001t0001g0317 a0001c0001t0002g0001 a0001c0001t0002g0085 others(35): Show a0001c0001t0001g0317 a0001c0001t0002g0001 a0001c0001t0002g0085 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0209 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0003g0088 a0001c0001t0003g0186 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0005g0086 a0001c0001t0005g0212 a0001c0001t0005g0219 a0001c0001t0008g0190 a0001c0001t0008g0232 a0001c0003t0001g0246 a0001c0004t0003g0001 a0001c0004t0003g0187 a0001c0004t0017g0001 a0002c0005t0003g0202	38	140	0.2714	-32	c.115 others(51): Show c.1154-1509_1154-1478delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76494706	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	358	0.0028	-32	c.115 others(51): Show c.1154-1507_1154-1476delTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTC		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAH_chr1_225481829_225658123	225623671	CGCCTCCT others(25): Show CGCCTCCTGGGTTCACACCATTCTCCTGCCTCA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01243.hp2 others(13): Show HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01258.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp1 HG03579.hp2 HG04228.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0048 a0001c0001t0058 a0001c0001t0071 a0001c0001t0072 a0001c0001t0076 a0001c0001t0077 a0001c0001t0089 a0002c0002t0008 a0003c0004t0008	a0001c0001t0001g0275 a0001c0001t0003g0168 a0001c0001t0005g0299 others(13): Show a0001c0001t0001g0275 a0001c0001t0003g0168 a0001c0001t0005g0299 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0300 a0001c0001t0048g0060 a0001c0001t0058g0086 a0001c0001t0071g0226 a0001c0001t0072g0225 a0001c0001t0076g0085 a0001c0001t0077g0084 a0001c0001t0089g0151 a0002c0002t0008g0276 a0003c0004t0008g0298	16	306	0.0523	-32	c.5+2 others(47): Show c.5+28983_5+29014delTGAGGCAGGAGAATGGTGTGAACCCAGGAG GC		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13						chr1	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	2	0.5000	-32	c.594 others(49): Show c.594+1767_594+1798delTATATATATATATATATATATATATATA TATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENOSF1_chr18_665318_717630	667280	GGATGGTG others(25): Show GGATGGTGATGGAGATGGTGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	263	0.0038	-32	c.69 others(43): Show c.6993_*7024delTCACCATCACCATCACCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3037		chr18	TogoVar
ENOSF1_chr18_665318_717630	667440	GGTGATGG others(25): Show GGTGATGGTGATGGTGATGATGGAGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	409	0.0024	-32	c.68 others(43): Show c.6833_*6864delATCACCATCTCCATCATCACCATCACCATCAC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2877		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	138	0.0072	-32	c.161 others(53): Show c.1612-11122_1612-11091delATATATATATATATATATATATAT ATATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247853	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	186	0.0054	-32	c.161 others(53): Show c.1612-11147_1612-11116delAATATATATATATATATATATATA TATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247855	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG06807.hp2 HG01516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0067 a0001c0001t0005g0145 a0001c0001t0003g0067 a0001c0001t0005g0145	2	186	0.0108	-32	c.161 others(53): Show c.1612-11149_1612-11118delAAAATATATATATATATATATATA TATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43518562	ACCTACAG others(25): Show ACCTACAGTGATATTAGAAAGGTGACCAGATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp2 HG01109.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0110 a0001c0001t0014g0117 a0001c0001t0014g0110 a0001c0001t0014g0117	2	186	0.0108	-32	c.-21 others(53): Show c.-218-34442_-218-34411delAAATCTGGTCACCTTTCTAATATC ACTGTAGG		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG03139.hp2 others(8): Show HG00621.hp1 HG01243.hp2 HG03139.hp2 HG04204.hp2 NA18959.hp2 NA18970.hp2 NA18977.hp2 NA18985.hp1 NA19043.hp1 NA19063.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0022 a0001c0002t0029 a0001c0009t0001	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(8): Show a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0004g0003 a0001c0001t0015g0004 a0001c0001t0022g0005 a0001c0002t0029g0002 a0001c0009t0001g0133	11	51	0.2157	-32	c.-42 others(43): Show c.-4248_-4217delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3612		chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790600	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0162	1	186	0.0054	-32	c.-42 others(43): Show c.-4265_-4234delCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3629		chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811356	ATATATCT others(25): Show ATATATCTATATCTATATCTATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG02922.hp2 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0064 a0002c0002t0013 a0002c0002t0064	a0002c0002t0013g0215 a0002c0002t0064g0214 a0002c0002t0013g0215 a0002c0002t0064g0214	2	288	0.0069	-32	c.240 others(49): Show c.240+3105_240+3136delATCTATATCTATATCTATATCTATATCT ATAT		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678930	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp2 HG02630.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0078 a0001c0002t0002g0075 a0001c0002t0001g0078 a0001c0002t0002g0075	2	271	0.0074	-32	c.101 others(50): Show c.1011+994_1011+1025delTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678938	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02258.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0010 a0001c0002t0002g0047 a0001c0002t0001g0010 a0001c0002t0002g0047	2	271	0.0074	-32	c.101 others(51): Show c.1011+1002_1011+1033delTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184113899	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	89	0.0112	-32	c.856 others(49): Show c.856-1122_856-1091delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7						chr4	TogoVar
ENTREP2_chr15_29115252_29575979	29219610	CATAAATA others(25): Show CATAAATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0045 a0001c0008t0036g0045	1	95	0.0105	-32	c.388 others(51): Show c.388-23078_388-23047delATATATATATATATATATATATATAT ATTTAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444154	CAGAAAGA others(25): Show CAGAAAGAAAGACAGACAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0002 a0008c0025t0002	a0008c0025t0002g0090 a0008c0025t0002g0090	1	116	0.0086	-32	c.220 others(51): Show c.220-62355_220-62324delCTTTCTTTCTTTCTTTGTCTGTCTTT CTTTCT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10						chr15	TogoVar
EP300_chr22_41087592_41185077	41167578	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	287	0.0035	-32	c.387 others(49): Show c.3875-869_3875-838delGTGTGTATATATATATATATATATATAT ATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	185	0.0054	-32	c.387 others(49): Show c.3875-844_3875-813delTATATATATATATATATATATATATATA TATA		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EPB41L2_chr6_130834347_131068245	130954138	CGCCTCCC others(25): Show CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0131 a0001c0009t0001g0131	1	354	0.0028	-32	c.705 others(47): Show c.705+935_705+966delTGAGGCAGGAGAATGGCGTGAACCCGGGAG GC		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19						chr6	TogoVar
EPCAM_chr2_47364311_47392020	47365478	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0310	1	403	0.0025	-32	c.-40 others(43): Show c.-4027_-3996delTATATATATATATATATATATATATATATATA		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3832		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365506	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02129.hp1 HG02135.hp1 others(11): Show HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 NA18949.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA19003.hp2 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19079.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0168 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0363	14	441	0.0317	-32	c.-39 others(43): Show c.-3999_-3968delTATATATATATATATATATATATATATATTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3804		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365508	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(61): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01106.hp1 HG01515.hp2 HG01975.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG03490.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18973.hp2 NA18974.hp2 NA18982.hp2 NA18987.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0026 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0234 a0001c0001t0001g0316 a0001c0001t0001g0326 a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0001t0002g0159 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0241	64	438	0.1461	-32	c.-39 others(43): Show c.-3997_-3966delTATATATATATATATATATATATATATTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3802		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365510	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01891.hp2 others(1): Show HG00099.hp1 HG00733.hp2 HG01891.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0327 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0327	4	408	0.0098	-32	c.-39 others(43): Show c.-3995_-3964delTATATATATATATATATATATATATTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3800		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp2 HG02258.hp1 others(2): Show HG01346.hp1 HG01433.hp2 HG02258.hp1 HG04184.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0001g0321 a0001c0001t0001g0325 others(1): Show a0001c0001t0001g0201 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0002g0038	5	414	0.0121	-32	c.-39 others(43): Show c.-3993_-3962delTATATATATATATATATATATATTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3798		chr2	TogoVar
EPHA10_chr1_37710976_37770120	37753647	CGGGAGCA others(25): Show CGGGAGCAGGGGCGAGCGGGAGCAGGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(231): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0013 a0016 a0017 a0021 a0024 a0025 a0026 a0029 a0030	a0001c0001 a0001c0005 a0001c0006 others(27): Show a0001c0001 a0001c0005 a0001c0006 a0001c0020 a0001c0033 a0001c0037 a0001c0040 a0001c0042 a0002c0002 a0002c0007 a0002c0011 a0002c0015 a0003c0004 a0003c0008 a0003c0024 a0003c0025 a0004c0003 a0005c0009 a0006c0010 a0009c0017 a0012c0021 a0013c0019 a0016c0043 a0017c0023 a0021c0045 a0024c0049 a0025c0035 a0026c0034 a0029c0022 a0030c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0005t0004 a0001c0005t0011 a0001c0005t0015 a0001c0006t0002 a0001c0006t0007 a0001c0006t0009 a0001c0020t0002 a0001c0033t0002 a0001c0037t0004 a0001c0040t0011 a0001c0042t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0018 a0002c0007t0004 a0002c0011t0001 a0002c0011t0002 a0002c0011t0009 a0002c0015t0007 a0003c0004t0008 a0003c0008t0006 a0003c0024t0006 a0003c0025t0006 a0004c0003t0003 a0004c0003t0016 a0005c0009t0003 a0006c0010t0002 a0009c0017t0003 a0012c0021t0002 a0013c0019t0002 a0016c0043t0003 a0017c0023t0006 a0021c0045t0003 a0024c0049t0020 a0025c0035t0001 a0026c0034t0001 a0029c0022t0001 a0030c0047t0001	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 others(215): Show a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0297 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0004g0149 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0005t0004g0010 a0001c0005t0004g0011 a0001c0005t0004g0058 a0001c0005t0004g0102 a0001c0005t0004g0110 a0001c0005t0004g0132 a0001c0005t0004g0136 a0001c0005t0004g0139 a0001c0005t0004g0184 a0001c0005t0004g0298 a0001c0005t0011g0040 a0001c0005t0011g0041 a0001c0005t0015g0037 a0001c0005t0015g0039 a0001c0006t0002g0046 a0001c0006t0002g0047 a0001c0006t0007g0177 a0001c0006t0007g0178 a0001c0006t0007g0179 a0001c0006t0007g0180 a0001c0006t0007g0181 a0001c0006t0007g0182 a0001c0006t0007g0183 a0001c0006t0007g0201 a0001c0006t0009g0207 a0001c0020t0002g0171 a0001c0020t0002g0172 a0001c0033t0002g0281 a0001c0037t0004g0130 a0001c0040t0011g0049 a0001c0042t0001g0206 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0125 a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0234 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0002t0001g0282 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0002g0001 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0270 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0018g0255 a0002c0007t0004g0249 a0002c0007t0004g0260 a0002c0007t0004g0292 a0002c0011t0001g0034 a0002c0011t0002g0020 a0002c0011t0009g0021 a0002c0011t0009g0022 a0002c0011t0009g0023 a0002c0011t0009g0035 a0002c0015t0007g0043 a0002c0015t0007g0231 a0002c0015t0007g0232 a0003c0004t0008g0322 a0003c0008t0006g0309 a0003c0008t0006g0310 a0003c0024t0006g0354 a0003c0025t0006g0352 a0004c0003t0003g0036 a0004c0003t0003g0038 a0004c0003t0003g0187 a0004c0003t0003g0189 a0004c0003t0003g0191 a0004c0003t0003g0192 a0004c0003t0003g0196 a0004c0003t0003g0197 a0004c0003t0003g0200 a0004c0003t0003g0203 a0004c0003t0003g0204 a0004c0003t0003g0208 a0004c0003t0003g0212 a0004c0003t0003g0214 a0004c0003t0003g0215 a0004c0003t0003g0299 a0004c0003t0016g0045 a0005c0009t0003g0050 a0005c0009t0003g0100 a0005c0009t0003g0145 a0005c0009t0003g0161 a0005c0009t0003g0193 a0006c0010t0002g0111 a0006c0010t0002g0129 a0006c0010t0002g0133 a0006c0010t0002g0147 a0006c0010t0002g0148 a0009c0017t0003g0224 a0009c0017t0003g0236 a0009c0017t0003g0237 a0012c0021t0002g0107 a0012c0021t0002g0108 a0013c0019t0002g0289 a0013c0019t0002g0290 a0016c0043t0003g0211 a0017c0023t0006g0353 a0021c0045t0003g0123 a0024c0049t0020g0307 a0025c0035t0001g0209 a0026c0034t0001g0051 a0029c0022t0001g0124 a0030c0047t0001g0306	234	380	0.6158	-32	c.100 others(49): Show c.1007-453_1007-422delACTCACCCCTGCTCCCGCTCGCCCCTGC TCCC		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	4/16						chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136660	AGAAAAGA others(25): Show AGAAAAGAAGAAAAGAAGAAGAAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02135.hp2 HG02257.hp1 others(7): Show HG01891.hp2 HG02135.hp2 HG02257.hp1 HG02723.hp2 HG03098.hp2 HG03486.hp1 NA18954.hp2 NA18974.hp1 NA19030.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0001c0018 others(1): Show a0001c0003 a0001c0004 a0001c0018 a0004c0011	a0001c0003t0001 a0001c0004t0001 a0001c0018t0002 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0018t0002 a0004c0011t0001	a0001c0003t0001g0007 a0001c0003t0001g0041 a0001c0003t0001g0042 others(5): Show a0001c0003t0001g0007 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0193 a0001c0004t0001g0009 a0001c0004t0001g0205 a0001c0018t0002g0043 a0004c0011t0001g0209	10	310	0.0323	-32	c.131 others(49): Show c.1313-922_1313-891delCTCTTCTTCTTTCTTCTTCTTTTCTTCT TTTC		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136692	GGAAGAAG others(25): Show GGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0014 a0002c0008t0003g0014	1	276	0.0036	-32	c.131 others(49): Show c.1313-954_1313-923delTTCTTCTTCTTTTCTTCTTCTTCTTCTT CTTC		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA4_chr2_221413027_221577304	221470578	TCTGCTTT others(25): Show TCTGCTTTTCCCTAAAGTATCACTTTAGGGAAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(74): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01361.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19063.hp1 NA19078.hp2 NA19081.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0049 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0019 a0001c0004t0035 a0001c0006t0003 a0001c0009t0002 a0002c0011t0026	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0027 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0126 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0269 a0001c0001t0003g0287 a0001c0001t0004g0058 a0001c0001t0004g0075 a0001c0001t0004g0155 a0001c0001t0005g0015 a0001c0001t0005g0023 a0001c0001t0005g0039 a0001c0001t0005g0054 a0001c0001t0006g0029 a0001c0001t0006g0252 a0001c0001t0012g0274 a0001c0001t0014g0187 a0001c0001t0017g0104 a0001c0001t0017g0105 a0001c0001t0036g0113 a0001c0001t0037g0099 a0001c0001t0038g0103 a0001c0001t0044g0231 a0001c0001t0049g0227 a0001c0002t0004g0101 a0001c0002t0004g0232 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0003g0057 a0001c0003t0003g0114 a0001c0003t0003g0290 a0001c0004t0019g0235 a0001c0004t0019g0236 a0001c0004t0035g0107 a0001c0006t0003g0117 a0001c0009t0002g0097 a0002c0011t0026g0102	77	292	0.2637	-32	c.131 others(53): Show c.1318+11742_1318+11773delGTTCCCTAAAGTGATACTTTAGGG AAAAGCAG		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	5/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65348749	ATATATAT others(25): Show ATATATATATGTGTATATATATGTGTGTGCATG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0133 a0001c0003t0003g0133	1	232	0.0043	-32	c.244 others(49): Show c.2446-578_2446-547delCATGCACACACATATATATACACATATA TATA		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	13/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65465528	AAAAGAAA others(25): Show AAAAGAAAGGAAAGGAAGGAAAGGAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	214	0.0047	-32	c.140 others(53): Show c.1402+24817_1402+24848delCCTTTCCTTCCTTTCCTTCCTTTC CTTTCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574647	TATATACA others(25): Show TATATACACATATATATATACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	232	0.0043	-32	c.910 others(51): Show c.910+26962_910+26993delGTATATATATGTGTATATATATATGT GTATAT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574679	CATATATA others(25): Show CATATATATACATATATATACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03704.hp1 HG02615.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0039 a0001c0001t0032 a0001c0002t0039	a0001c0001t0032g0004 a0001c0002t0039g0015 a0001c0001t0032g0004 a0001c0002t0039g0015	2	120	0.0167	-32	c.910 others(51): Show c.910+26930_910+26961delATGTATATATATGTATATATATGTAT ATATAT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576050	GAAAGAAA others(25): Show GAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0003 a0001c0001t0033g0003	1	231	0.0043	-32	c.910 others(51): Show c.910+25559_910+25590delTTTTCTTTTCTTTTCTTTTCTTTTCT TTCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97328012	TGTGTATA others(25): Show TGTGTATATATGTATATGTGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0005 a0001c0005t0004 a0001c0002t0005 a0001c0005t0004	a0001c0002t0005g0055 a0001c0005t0004g0046 a0001c0002t0005g0055 a0001c0005t0004g0046	2	80	0.0250	-32	c.160 others(53): Show c.1607-77137_1607-77106delGTGTATATATGTATATGTGTATAT ATACACAC		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17						chr3	TogoVar
EPHA8_chr1_22558489_22608595	22599641	GGGAGGGA others(25): Show GGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01074.hp2 others(33): Show HG00642.hp2 HG00733.hp1 HG01074.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG02027.hp2 HG02615.hp1 HG02683.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18950.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18979.hp1 NA18992.hp1 NA19007.hp1 NA19012.hp1 NA19064.hp1 NA19085.hp1 NA19088.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0015	a0001c0002 a0002c0003 a0002c0004 others(5): Show a0001c0002 a0002c0003 a0002c0004 a0002c0037 a0002c0040 a0002c0043 a0011c0036 a0015c0023	a0001c0002t0002 a0001c0002t0039 a0001c0002t0040 others(11): Show a0001c0002t0002 a0001c0002t0039 a0001c0002t0040 a0002c0003t0002 a0002c0003t0023 a0002c0003t0043 a0002c0004t0009 a0002c0004t0030 a0002c0004t0041 a0002c0037t0002 a0002c0040t0009 a0002c0043t0002 a0011c0036t0002 a0015c0023t0002	a0001c0002t0002g0016 a0001c0002t0039g0293 a0001c0002t0040g0065 others(29): Show a0001c0002t0002g0016 a0001c0002t0039g0293 a0001c0002t0040g0065 a0002c0003t0002g0002 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0082 a0002c0003t0002g0084 a0002c0003t0002g0087 a0002c0003t0002g0088 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0003t0002g0095 a0002c0003t0002g0096 a0002c0003t0002g0097 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0023g0092 a0002c0003t0023g0093 a0002c0003t0043g0183 a0002c0004t0009g0187 a0002c0004t0009g0213 a0002c0004t0030g0245 a0002c0004t0041g0175 a0002c0037t0002g0083 a0002c0040t0009g0035 a0002c0043t0002g0291 a0011c0036t0002g0076 a0015c0023t0002g0016	36	339	0.1062	-32	c.238 others(49): Show c.2388+641_2388+672delAAAGGAGGGAGGGAGGAAGGAGGGAAGG AAGG		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPM2A_chr6_145620305_145740520	145735359	GCCGCGGT others(25): Show GCCGCGGTGCCGGCCGGCCTCAGGCGGACGGCA	G G	frameshift_variant frameshift_variant	HIGH	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0015 a0006c0006t0015	a0006c0006t0015g0058 a0006c0006t0015g0058	1	318	0.0031	-32	c.108 others(39): Show c.108_139delTGCCGTCCGCCTGAGGCCGGCCGGCACCGCGG	p.Ala others(4): Show p.Ala37fs	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/4	161/3129	108/996	36/331			chr6	TogoVar
EPRS1_chr1_219963600_220051505	220020824	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	23	0.0435	-32	c.111 others(49): Show c.1116-635_1116-604delTATATATATATATATATATATATATATA TATA		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31						chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55071312	ACTGGTAT others(25): Show ACTGGTATTTGGGAGGCATTTGCTGTGGGTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	338	0.0030	-32	c.-46 others(43): Show c.-4644_-4613delCTGGTATTTGGGAGGCATTTGCTGTGGGTTAC		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding					4556		chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55088480	CACTCTTT others(25): Show CACTCTTTGTTCTGGGAGATGGCAGCCAACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	338	0.0030	-32	c.86 others(41): Show c.867_*898delACTCTTTGTTCTGGGAGATGGCAGCCAACTGA		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding					558		chr19	TogoVar
EPX_chr17_58187726_58210174	58203890	CCACTGCA others(25): Show CCACTGCACTCCAGCCTGGGCGACAGAGCGAGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG01243.hp2 HG02630.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0005 a0019c0037 a0001c0001 a0002c0005 a0019c0037	a0001c0001t0001 a0002c0005t0002 a0019c0037t0001 a0001c0001t0001 a0002c0005t0002 a0019c0037t0001	a0001c0001t0001g0036 a0002c0005t0002g0053 a0002c0005t0002g0054 others(1): Show a0001c0001t0001g0036 a0002c0005t0002g0053 a0002c0005t0002g0054 a0019c0037t0001g0128	5	402	0.0124	-32	c.194 others(49): Show c.1947-330_1947-299delACTGCACTCCAGCCTGGGCGACAGAGCG AGAC		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01168.hp2 others(7): Show HG00280.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01934.hp2 HG02109.hp2 HG02257.hp1 HG04199.hp1 NA18973.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0006c0034 others(1): Show a0001c0001 a0006c0006 a0006c0034 a0006c0036	a0001c0001t0001 a0006c0006t0004 a0006c0006t0011 others(2): Show a0001c0001t0001 a0006c0006t0004 a0006c0006t0011 a0006c0034t0008 a0006c0036t0004	a0001c0001t0001g0125 a0006c0006t0004g0021 a0006c0006t0004g0304 others(5): Show a0001c0001t0001g0125 a0006c0006t0004g0021 a0006c0006t0004g0304 a0006c0006t0004g0309 a0006c0006t0004g0313 a0006c0006t0011g0043 a0006c0034t0008g0310 a0006c0036t0004g0312	10	46	0.2174	-32	c.-37 others(41): Show c.-377_-346delACACACACACACACACACACACACACACACAC		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772808	GATATATA others(25): Show GATATATATATATATATATATATATATACACAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp2 NA19030.hp2 others(1): Show HG03471.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0024 a0001c0001t0026 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001	a0001c0001t0003g0049 a0001c0001t0024g0038 a0001c0001t0026g0052 others(1): Show a0001c0001t0003g0049 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0002t0001g0036	4	41	0.0976	-32	c.556 others(51): Show c.556+15185_556+15216delATGTGTATATATATATATATATATAT ATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773598	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp2 NA18522.hp1 others(1): Show HG02145.hp2 HG02965.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 a0001c0001t0029	a0001c0001t0004g0011 a0001c0001t0011g0042 a0001c0001t0027g0055 others(1): Show a0001c0001t0004g0011 a0001c0001t0011g0042 a0001c0001t0027g0055 a0001c0001t0029g0054	4	29	0.1379	-32	c.556 others(51): Show c.556+14395_556+14426delTATATATATATATATATATATATATA TATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar

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