Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

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
EMP2_chr16_10523422_10585598	10532740	ATTTTTTT others(13): Show ATTTTTTTTTTCTTTTTTCTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0127 a0001c0006t0108 a0001c0001t0127 a0001c0006t0108	a0001c0001t0127g0036 a0001c0006t0108g0014 a0001c0001t0127g0036 a0001c0006t0108g0014	2	402	0.0050	-20	c.14 others(29): Show c.145_*164delAAGAAAAAAGAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	5/5	145		chr16	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG03017.hp1 others(2): Show HG01884.hp2 HG02486.hp1 HG03017.hp1 HG03225.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0022	5	376	0.0133	-20	c.39 others(31): Show c.3947_*3966delTCTTTCTTTCTTTCTTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01192.hp2 others(33): Show HG00597.hp2 HG00609.hp2 HG01192.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03490.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18956.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp2 NA18997.hp2 NA19001.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19084.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0335 others(33): Show a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0351 a0001c0001t0002g0105 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0256 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0357 a0001c0001t0003g0185 a0001c0001t0004g0095 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0011g0094 a0001c0001t0016g0091	36	360	0.1000	-20	c.115 others(39): Show c.1154-1497_1154-1478delCCTTCCTTCCTTCCTTCCTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAH_chr1_225481829_225658123	225520914	AAGGGAGG others(13): Show AAGGGAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp2 NA19064.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0211 a0001c0001t0016g0028 a0001c0001t0001g0211 a0001c0001t0016g0028	2	308	0.0065	-20	c.435 others(37): Show c.435-1369_435-1350delCCCTCCCTCCCTTCCTCCCT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225520922	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(47): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp1 HG02300.hp1 HG02615.hp1 HG02647.hp1 HG02735.hp1 HG02886.hp1 HG03516.hp1 HG03688.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18957.hp1 NA18963.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18992.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19055.hp1 NA19060.hp2 NA19066.hp2 NA19076.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0012	a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 others(20): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0047 a0001c0001t0057 a0001c0001t0073 a0001c0001t0074 a0001c0001t0100 a0001c0001t0112 a0001c0001t0113 a0001c0003t0014 a0002c0002t0004 a0002c0002t0017 a0002c0002t0056 a0003c0004t0004 a0005c0012t0013	a0001c0001t0004g0015 a0001c0001t0004g0245 a0001c0001t0004g0249 others(47): Show a0001c0001t0004g0015 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0264 a0001c0001t0004g0277 a0001c0001t0009g0009 a0001c0001t0009g0032 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0244 a0001c0001t0009g0261 a0001c0001t0013g0033 a0001c0001t0013g0038 a0001c0001t0013g0042 a0001c0001t0013g0056 a0001c0001t0017g0196 a0001c0001t0017g0259 a0001c0001t0017g0262 a0001c0001t0023g0047 a0001c0001t0023g0142 a0001c0001t0023g0290 a0001c0001t0025g0035 a0001c0001t0025g0041 a0001c0001t0025g0043 a0001c0001t0033g0254 a0001c0001t0033g0286 a0001c0001t0034g0247 a0001c0001t0034g0248 a0001c0001t0035g0036 a0001c0001t0035g0037 a0001c0001t0041g0021 a0001c0001t0041g0166 a0001c0001t0047g0263 a0001c0001t0057g0044 a0001c0001t0073g0045 a0001c0001t0074g0057 a0001c0001t0100g0046 a0001c0001t0112g0304 a0001c0001t0113g0305 a0001c0003t0014g0025 a0002c0002t0004g0256 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0017g0291 a0002c0002t0056g0242 a0003c0004t0004g0258 a0005c0012t0013g0034	50	308	0.1623	-20	c.435 others(37): Show c.435-1377_435-1358delCCCTCCCTCCCTCCCTCCCT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13			chr1	TogoVar
ENDOU_chr12_47704734_47730490	47706893	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0052 a0001c0014t0001g0109 a0001c0001t0001g0052 a0001c0014t0001g0109	2	422	0.0047	-20	c.38 others(31): Show c.3889_*3908delCACACACACACACACACACA	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding		2840		chr12	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(35): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01169.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02258.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp2 HG04115.hp1 HG04184.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18969.hp2 NA18991.hp1 NA19030.hp1 NA19058.hp1 NA19067.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0029 others(24): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0006g0027 a0001c0001t0006g0068 a0001c0001t0006g0070	38	384	0.0990	-20	c.594 others(37): Show c.594+1779_594+1798delTATATATATATATATATATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	667458	GATGGAGA others(13): Show GATGGAGATGGTGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA21309.hp2 HG03139.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0225 a0001c0001t0006g0207 a0001c0001t0006g0225	2	418	0.0048	-20	c.68 others(31): Show c.6827_*6846delATCACCATCACCATCTCCAT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2859		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0070 a0002c0004t0015g0070	1	188	0.0053	-20	c.161 others(41): Show c.1612-11110_1612-11091delATATATATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417228	CGGGAGAC others(13): Show CGGGAGACGGGAGACGGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp1 HG01981.hp2 others(4): Show HG00639.hp1 HG01975.hp1 HG01981.hp2 HG02647.hp1 HG02897.hp1 HG03209.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0036 a0001c0003t0037 a0001c0005t0005	a0001c0001t0005g0155 a0001c0001t0008g0017 a0001c0002t0001g0066 others(4): Show a0001c0001t0005g0155 a0001c0001t0008g0017 a0001c0002t0001g0066 a0001c0002t0036g0164 a0001c0003t0037g0136 a0001c0005t0005g0137 a0001c0005t0005g0138	7	188	0.0372	-20	c.-74 others(37): Show c.-74-4260_-74-4241delTCTCCCGTCTCCCGTCTCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA18944.hp1 NA19056.hp2 others(1): Show HG02897.hp1 NA18944.hp1 NA19056.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0027 a0001c0002t0001 a0001c0002t0012 a0001c0002t0027	a0001c0002t0001g0028 a0001c0002t0001g0066 a0001c0002t0012g0034 others(1): Show a0001c0002t0001g0028 a0001c0002t0001g0066 a0001c0002t0012g0034 a0001c0002t0027g0121	4	188	0.0213	-20	c.-42 others(31): Show c.-4236_-4217delTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENOX2_chrX_130617325_130908209	130617502	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02698.hp1 HG03225.hp1 others(5): Show HG02040.hp1 HG02698.hp1 HG03225.hp1 NA18747.hp1 NA18959.hp1 NA18989.hp1 NA19072.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 a0001c0001t0001 a0001c0001t0004 a0004c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0004g0148 a0004c0004t0001g0088	8	154	0.0520	-20	c.77 others(31): Show c.7792_*7811delGAAAGAAAGAAAGAAAGAAA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding		4822		chrX	TogoVar
ENPP2_chr8_119552086_119643839	119613931	TCACCCTA others(13): Show TCACCCTACTGTATAATAGAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	340	0.0029	-20	c.777 others(37): Show c.777+2314_777+2333delTTCTATTATACAGTAGGGTG	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	8/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131678907	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0106 a0001c0002t0002g0079 a0001c0002t0002g0106	2	278	0.0072	-20	c.101 others(39): Show c.1011+1002_1011+1021delTTTCTTTCTTTCTTTCTTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678942	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	278	0.0036	-20	c.101 others(39): Show c.1011+1006_1011+1025delTTTCTTTCTTTCTTTCCTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679069	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0094 a0011c0015t0001g0094	1	278	0.0036	-20	c.101 others(39): Show c.1011+1130_1011+1149delTTTCTTTCTTTCTTTCTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24			chr6	TogoVar
ENPP6_chr4_184083706_184222873	184119312	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0167 a0001c0003t0014g0167	1	320	0.0031	-20	c.534 others(37): Show c.534-1432_534-1413delACACACACACACACACACAC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131185	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0308 a0002c0001t0020g0308	1	320	0.0031	-20	c.422 others(37): Show c.422-6933_422-6914delAGAAGAAAGAAAGAAAGAAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02071.hp1 HG02109.hp1 others(18): Show HG00741.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 NA18522.hp1 NA18974.hp2 NA18980.hp1 NA19005.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0006 others(6): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0017 a0001c0027 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0017t0001 a0001c0027t0002 a0002c0001t0001 a0002c0001t0002 a0003c0005t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0009 others(15): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0098 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0003t0001g0068 a0001c0003t0002g0001 a0001c0006t0002g0242 a0001c0007t0001g0066 a0001c0008t0001g0014 a0001c0017t0001g0070 a0001c0027t0002g0197 a0002c0001t0001g0115 a0002c0001t0001g0127 a0002c0001t0002g0119 a0003c0005t0001g0050 a0003c0005t0001g0161	21	430	0.0488	-20	c.44 others(31): Show c.4419_*4438delAAAAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39762438	ATCTCACT others(13): Show ATCTCACTGTGTCACCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0009 a0004c0009t0001g0153 a0001c0001t0001g0009 a0004c0009t0001g0153	2	218	0.0092	-20	c.121 others(39): Show c.1219+2765_1219+2784delGCCTGGGTGACACAGTGAGA	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	6/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39871172	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	218	0.0046	-20	c.350 others(37): Show c.350-9185_350-9166delATTTATTTATTTATTTATTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	2/6			chr22	TogoVar
ENTPD7_chr10_99654509_99716241	99700394	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(160): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(3): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0002c0002 a0002c0008	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(14): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0037 a0001c0003t0001 a0001c0011t0003 a0001c0013t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0013 a0002c0002t0025 a0002c0002t0031 a0002c0002t0034 a0002c0008t0003	a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0016 others(128): Show a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0218 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0332 a0001c0001t0003g0337 a0001c0001t0007g0009 a0001c0001t0007g0242 a0001c0001t0007g0275 a0001c0001t0007g0283 a0001c0001t0007g0287 a0001c0001t0007g0289 a0001c0001t0011g0015 a0001c0001t0011g0237 a0001c0001t0011g0270 a0001c0001t0018g0285 a0001c0001t0018g0286 a0001c0001t0019g0260 a0001c0001t0024g0268 a0001c0001t0037g0280 a0001c0003t0001g0162 a0001c0011t0003g0265 a0001c0013t0003g0016 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0006g0001 a0002c0002t0006g0108 a0002c0002t0006g0109 a0002c0002t0006g0110 a0002c0002t0006g0114 a0002c0002t0006g0116 a0002c0002t0013g0140 a0002c0002t0013g0147 a0002c0002t0025g0115 a0002c0002t0031g0152 a0002c0002t0034g0003 a0002c0008t0003g0281	163	408	0.3995	-20	c.133 others(37): Show c.1336-559_1336-540delATGTGTGTGTGTGTGTGTGT	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01109.hp1 others(8): Show HG00423.hp1 HG00423.hp2 HG01109.hp1 HG01261.hp1 HG02818.hp2 HG03130.hp2 HG06807.hp1 NA18983.hp1 NA19043.hp2 NA19065.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0004 a0003c0006 a0003c0014 a0004c0017 a0004c0032 a0005c0035	a0001c0001t0045 a0001c0002t0043 a0001c0008t0007 others(7): Show a0001c0001t0045 a0001c0002t0043 a0001c0008t0007 a0002c0003t0034 a0002c0004t0003 a0003c0006t0002 a0003c0014t0002 a0004c0017t0014 a0004c0032t0014 a0005c0035t0019	a0001c0001t0045g0034 a0001c0002t0043g0113 a0001c0008t0007g0039 others(8): Show a0001c0001t0045g0034 a0001c0002t0043g0113 a0001c0008t0007g0039 a0002c0003t0034g0059 a0002c0004t0003g0052 a0002c0004t0003g0101 a0003c0006t0002g0065 a0003c0014t0002g0103 a0004c0017t0014g0013 a0004c0032t0014g0021 a0005c0035t0019g0006	11	125	0.0880	-20	c.277 others(39): Show c.277-54206_277-54187delAAAAAAAAAAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29402302	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0111 a0002c0004t0003g0111	1	125	0.0080	-20	c.220 others(39): Show c.220-20491_220-20472delTATACACACACACACACACA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444170	CAAAGAAA others(13): Show CAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19009.hp1 HG02965.hp1 NA19009.hp1	a0004 a0006 a0004 a0006	a0004c0020 a0006c0037 a0004c0020 a0006c0037	a0004c0020t0033 a0006c0037t0018 a0004c0020t0033 a0006c0037t0018	a0004c0020t0033g0071 a0006c0037t0018g0004 a0004c0020t0033g0071 a0006c0037t0018g0004	2	125	0.0160	-20	c.220 others(39): Show c.220-62359_220-62340delCTTTCTTTCTTTCTTTCTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
EOGT_chr3_68970225_69018684	69016261	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA19080.hp1 NA18961.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0360 a0001c0002t0001g0001 a0001c0002t0001g0360	2	444	0.0045	-20	c.-30 others(31): Show c.-3063_-3044delTACACACACACACACACACA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2578		chr3	TogoVar
EOLA1_chrX_149536012_149553331	149540050	GCCCCTCC others(13): Show GCCCCTCCCTGCCCCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0021 a0002c0004t0013g0021	2	315	0.0064	-20	c.-15 others(31): Show c.-1522_-1503delCCCCTCCCTGCCCCGCCCCT	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding		961		chrX	TogoVar
EOMES_chr3_27710953_27727323	27722866	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-20	c.-59 others(29): Show c.-592_-573delAAAAAAAAAAAAAAAAAAAA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		544		chr3	TogoVar
EP300_chr22_41087592_41185077	41167580	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02895.hp1 others(2): Show HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0003 a0001c0004t0004	a0001c0004t0003g0005 a0001c0004t0003g0009 a0001c0004t0003g0012 others(2): Show a0001c0004t0003g0005 a0001c0004t0003g0009 a0001c0004t0003g0012 a0001c0004t0004g0013 a0001c0004t0004g0016	5	300	0.0167	-20	c.387 others(37): Show c.3875-867_3875-848delGTGTATATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG02735.hp1 HG00323.hp1 HG00733.hp2 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0027 a0002c0003 a0002c0027	a0002c0003t0013 a0002c0027t0001 a0002c0003t0013 a0002c0027t0001	a0002c0003t0013g0136 a0002c0003t0013g0174 a0002c0027t0001g0179 a0002c0003t0013g0136 a0002c0003t0013g0174 a0002c0027t0001g0179	3	300	0.0100	-20	c.387 others(37): Show c.3875-832_3875-813delTATATATATATATATATATA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167814	GTTTTTTT others(13): Show GTTTTTTTTTTTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0083 a0001c0002t0065g0083	1	300	0.0033	-20	c.387 others(37): Show c.3875-623_3875-604delGTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EPB41L1_chr20_36149740_36237799	36188625	CACACACA others(13): Show CACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG03486.hp2 HG02717.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0130	3	236	0.0127	-20	c.102 others(37): Show c.1026+128_1026+147delCACACACACACACACAGAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36213591	TTTTAGTA others(13): Show TTTTAGTAACACGTGTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG01943.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0189 a0001c0001t0001g0022 a0001c0001t0001g0189	2	236	0.0085	-20	c.218 others(37): Show c.2185-763_2185-744delTAGTAACACGTGTTTCTGTT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36234156	ATATATAT others(13): Show ATATATATATGTACATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	236	0.0042	-20	c.48 others(31): Show c.4817_*4836delTATATATATGTACATATATG	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		1358		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130855154	GCCTGGCC others(13): Show GCCTGGCCAACATGGCGAAAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp2 others(171): Show HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0017 a0003c0004 a0004c0008 a0005c0006 a0007c0016 a0010c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0009t0001 a0001c0017t0002 a0003c0004t0001 a0004c0008t0007 a0005c0006t0001 a0007c0016t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0033 others(171): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0011g0288 a0001c0001t0013g0129 a0001c0002t0001g0069 a0001c0002t0001g0096 a0001c0002t0001g0247 a0001c0002t0002g0007 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0130 a0001c0002t0002g0138 a0001c0002t0002g0173 a0001c0002t0002g0195 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0007g0074 a0001c0002t0007g0238 a0001c0009t0001g0131 a0001c0017t0002g0059 a0003c0004t0001g0262 a0004c0008t0007g0075 a0004c0008t0007g0076 a0005c0006t0001g0156 a0005c0006t0001g0167 a0007c0016t0001g0286 a0010c0014t0001g0135	174	356	0.4888	-20	c.5+ others(35): Show c.5+2957_*5+2976delGTTTCGCCATGTTGGCCAGG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131016477	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0327 a0001c0001t0002g0328 a0001c0001t0001g0327 a0001c0001t0002g0328	2	356	0.0056	-20	c.-15 others(39): Show c.-15+46658_-15+46677delGTGTGTGTGTGTGTGTGTGT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	222	0.0045	-20	c.34 others(31): Show c.3471_*3490delTTTTTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112345778	TATACACA others(13): Show TATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0155 a0002c0003t0001g0155	1	228	0.0044	-20	c.100 others(39): Show c.100-38308_100-38289delGTGTGTGTGTGTGTGTGTAT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408699	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG03471.hp1 others(1): Show HG02055.hp2 HG03209.hp1 HG03471.hp1 NA18747.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0009 a0001c0001 a0001c0002 a0008c0009	a0001c0001t0051 a0001c0002t0022 a0008c0009t0010 a0001c0001t0051 a0001c0002t0022 a0008c0009t0010	a0001c0001t0051g0226 a0001c0002t0022g0109 a0008c0009t0010g0049 others(1): Show a0001c0001t0051g0226 a0001c0002t0022g0109 a0008c0009t0010g0049 a0008c0009t0010g0050	4	228	0.0175	-20	c.99+ others(37): Show c.99+10222_99+10241delCTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109176040	TCACACAC others(13): Show TCACACACACGCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0035 a0002c0005t0035	a0002c0005t0035g0301 a0002c0005t0035g0301	1	318	0.0031	-20	c.263 others(37): Show c.2633+491_2633+510delTGTGTGTGTGCGTGTGTGTG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109184090	GTGAAGTC others(13): Show GTGAAGTCTTGGGGTACATTC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG02647.hp1 others(2): Show HG01433.hp1 HG01496.hp1 HG02647.hp1 HG03209.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0005 a0001c0001 a0001c0018 a0002c0005	a0001c0001t0026 a0001c0018t0053 a0002c0005t0051 others(1): Show a0001c0001t0026 a0001c0018t0053 a0002c0005t0051 a0002c0005t0064	a0001c0001t0026g0005 a0001c0001t0026g0006 a0001c0018t0053g0130 others(2): Show a0001c0001t0026g0005 a0001c0001t0026g0006 a0001c0018t0053g0130 a0002c0005t0051g0160 a0002c0005t0064g0245	5	318	0.0157	-20	c.241 others(39): Show c.2419-1313_2419-1294delGAATGTACCCCAAGACTTCA	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	23/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109276154	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0005 a0001c0012t0020 a0001c0010t0005 a0001c0012t0020	a0001c0010t0005g0197 a0001c0012t0020g0308 a0001c0010t0005g0197 a0001c0012t0020g0308	2	318	0.0063	-20	c.411 others(37): Show c.411+3643_411+3662delGTGTGTGTGTGTGTGTGTGT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	2/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109281710	AAATAAAT others(13): Show AAATAAATAAATAAATTAATT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0254 a0001c0002t0063g0254	1	318	0.0031	-20	c.307 others(37): Show c.307-1809_307-1790delAATTAATTTATTTATTTATT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG01928.hp2 others(5): Show HG00544.hp1 HG00741.hp1 HG01928.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA19000.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0078 a0001c0001t0003g0083 a0002c0002t0001g0149 others(5): Show a0001c0001t0003g0078 a0001c0001t0003g0083 a0002c0002t0001g0149 a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0222 a0002c0002t0001g0239	8	278	0.0288	-20	c.286 others(37): Show c.286-4030_286-4011delAAAAAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	29051088	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0142	1	312	0.0032	-20	c.163 others(39): Show c.1637-2006_1637-1987delTTTTTTTTTTTTTTTTTTTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32301038	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19060.hp1 HG02145.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0006 a0001c0002t0002 a0001c0004t0006	a0001c0002t0002g0244 a0001c0004t0006g0221 a0001c0002t0002g0244 a0001c0004t0006g0221	2	318	0.0063	-20	c.313 others(37): Show c.313+4714_313+4733delGATAGATAGATAGATAGATA	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	2/13			chr10	TogoVar
EPC2_chr2_148639751_148792569	148733479	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	308	0.0033	-20	c.314 others(39): Show c.314-10126_314-10107delTTTTTTTTTTTTTTTTTTTT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365516	ATATATAT others(13): Show ATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01993.hp1 HG02027.hp1 others(3): Show HG01515.hp1 HG01993.hp1 HG02027.hp1 HG03669.hp1 NA18906.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0208 a0001c0001t0001g0245 a0002c0002t0001g0040	6	450	0.0133	-20	c.-39 others(31): Show c.-3989_-3970delTATATATATATATATATATT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3794		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365520	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0001g0066 a0001c0001t0001g0097	2	450	0.0044	-20	c.-39 others(31): Show c.-3985_-3966delTATATATATATATATTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3790		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47369450	GCCCTCCC others(13): Show GCCCTCCCGCGAGTCCCGGGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02622.hp1 others(11): Show HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0003g0048 a0001c0001t0003g0343 a0001c0001t0003g0344 others(9): Show a0001c0001t0003g0048 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0004g0047 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0350 a0001c0001t0012g0349	14	450	0.0311	-20	c.-45 others(27): Show c.-45_-26delAGTCCCGGGCCCCTCCCGCG	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	1/9	26	INFO_REALIGN_3_PRIME	chr2	TogoVar

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