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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EPHB1_chr3_134790260_135265467	135183016	TTTTCTTT others(27): Show TTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp1 HG02723.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0010 a0001c0007 a0001c0010	a0001c0007t0007 a0001c0010t0008 a0001c0007t0007 a0001c0010t0008	a0001c0007t0007g0029 a0001c0010t0008g0105 a0001c0007t0007g0029 a0001c0010t0008g0105	2	119	0.0168	-34	c.188 others(53): Show c.1882+3042_1882+3075delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01516.hp2 others(2): Show HG01070.hp1 HG01071.hp1 HG01516.hp2 HG01517.hp1 HG03669.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0042 a0006c0006t0004g0044 a0006c0006t0004g0308 a0006c0006t0004g0042 a0006c0006t0004g0044 a0006c0006t0004g0308	5	41	0.1220	-34	c.-37 others(43): Show c.-379_-346delACACACACACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772808	GATATATA others(27): Show GATATATATATATATATATATATATATACACATAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	38	0.0263	-34	c.556 others(53): Show c.556+15183_556+15216delATATGTGTATATATATATATATATAT ATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015041	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG01891.hp2 others(1): Show HG01069.hp1 HG01192.hp1 HG01891.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0026 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0026 a0001c0001t0030	a0001c0001t0005g0035 a0001c0001t0008g0013 a0001c0001t0026g0052 others(1): Show a0001c0001t0005g0035 a0001c0001t0008g0013 a0001c0001t0026g0052 a0001c0001t0030g0056	4	37	0.1081	-34	c.235 others(53): Show c.235-67459_235-67426delATATATATATATATATATATATATAT ATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212446578	CATATATA others(27): Show CATATATATATATGTATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	18	0.0556	-34	c.82+ others(51): Show c.82+91837_82+91870delATATATATATATATATATATACATATAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0017 a0002c0007t0020 a0002c0002t0017 a0002c0007t0020	a0002c0002t0017g0077 a0002c0007t0020g0071 a0002c0002t0017g0077 a0002c0007t0020g0071	2	35	0.0571	-34	c.235 others(53): Show c.2351+6877_2351+6910delCACACACACACACACACACACACACA CACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418565	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02602.hp1 NA18949.hp1 others(1): Show HG01891.hp2 HG02602.hp1 NA18949.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0001c0001t0030 a0001c0001t0067 others(1): Show a0001c0001t0025 a0001c0001t0030 a0001c0001t0067 a0002c0002t0040	a0001c0001t0025g0061 a0001c0001t0030g0159 a0001c0001t0067g0132 others(1): Show a0001c0001t0025g0061 a0001c0001t0030g0159 a0001c0001t0067g0132 a0002c0002t0040g0070	4	152	0.0263	-34	c.302 others(55): Show c.3024+10344_3024+10377delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720209	TTCTTCTT others(27): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	71	0.0141	-34	c.271 others(55): Show c.2712+14528_2712+14561delGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56311231	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG02040.hp2 others(4): Show HG00741.hp2 HG01069.hp2 HG02040.hp2 HG02965.hp1 HG03831.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0060 a0001c0001t0002g0005 a0001c0001t0002g0032 others(4): Show a0001c0001t0001g0060 a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0073 a0001c0001t0003g0068 a0001c0001t0005g0053 a0001c0001t0009g0072	7	40	0.1750	-34	c.658 others(53): Show c.658-14830_658-14797delTATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56311233	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	64	0.0156	-34	c.658 others(53): Show c.658-14832_658-14799delTATATATATATAGAGAGAGAGAGAGA GAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC8_chr5_60861454_60950070	60904628	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0256 a0001c0001t0059g0256	1	207	0.0048	-34	c.481 others(49): Show c.481+130_481+163delTATATATATATATATATATATATATATACA CACA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(27): Show CTATATATATATATATATATATATATATGTATATA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	332	0.0030	-34	c.58+ others(49): Show c.58+8725_58+8758delATATATATGTATATATATATATATATATAT ATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073482	ATATGTAT others(27): Show ATATGTATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02257.hp1 NA19054.hp2 HG02080.hp2 HG02257.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0001g0078 a0001c0001t0002g0239 a0001c0001t0002g0250	3	402	0.0075	-34	c.58+ others(49): Show c.58+8759_58+8792delGTATATATATATATATATATATATATATAT GTAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45570876	TCCATATG others(27): Show TCCATATGGCATTCACTCCATTGCAGCTGCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(44): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG01071.hp1 HG01255.hp2 HG01433.hp2 HG01975.hp2 HG02015.hp2 HG02080.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18973.hp2 NA18977.hp2 NA18984.hp1 NA18988.hp2 NA19003.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0013 a0016 a0017 a0019 a0021 a0023 a0026	a0002c0002 a0003c0003 a0003c0042 others(15): Show a0002c0002 a0003c0003 a0003c0042 a0004c0004 a0005c0005 a0005c0032 a0007c0007 a0008c0010 a0009c0011 a0012c0024 a0012c0033 a0013c0014 a0016c0022 a0017c0018 a0019c0023 a0021c0037 a0023c0046 a0026c0034	a0002c0002t0001 a0003c0003t0001 a0003c0042t0002 others(17): Show a0002c0002t0001 a0003c0003t0001 a0003c0042t0002 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0005 a0005c0032t0002 a0007c0007t0001 a0008c0010t0002 a0009c0011t0001 a0012c0024t0001 a0012c0033t0002 a0013c0014t0002 a0016c0022t0001 a0017c0018t0001 a0019c0023t0001 a0021c0037t0002 a0023c0046t0002 a0026c0034t0001	a0002c0002t0001g0144 a0003c0003t0001g0180 a0003c0042t0002g0291 others(40): Show a0002c0002t0001g0144 a0003c0003t0001g0180 a0003c0042t0002g0291 a0004c0004t0001g0014 a0004c0004t0001g0090 a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0001g0211 a0004c0004t0001g0228 a0004c0004t0001g0237 a0004c0004t0001g0252 a0004c0004t0001g0263 a0004c0004t0001g0273 a0004c0004t0001g0305 a0004c0004t0002g0126 a0004c0004t0002g0212 a0004c0004t0002g0282 a0005c0005t0001g0110 a0005c0005t0001g0124 a0005c0005t0001g0125 a0005c0005t0005g0127 a0005c0032t0002g0288 a0007c0007t0001g0123 a0007c0007t0001g0162 a0008c0010t0002g0012 a0008c0010t0002g0209 a0008c0010t0002g0231 a0009c0011t0001g0283 a0009c0011t0001g0289 a0009c0011t0001g0295 a0012c0024t0001g0286 a0012c0033t0002g0042 a0013c0014t0002g0018 a0013c0014t0002g0258 a0016c0022t0001g0232 a0017c0018t0001g0020 a0019c0023t0001g0207 a0021c0037t0002g0294 a0023c0046t0002g0213 a0026c0034t0001g0094	47	324	0.1451	-34	c.105 others(53): Show c.1051-2459_1051-2426delCACCTGCAGCTGCAATGGAGTGAATG CCATATGG	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	8/14			chr13	TogoVar
ERO1B_chr1_236210101_236286958	236250572	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(113): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0009	a0001c0001 a0003c0004 a0006c0012 others(2): Show a0001c0001 a0003c0004 a0006c0012 a0008c0011 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0003c0004t0013 a0003c0004t0025 a0003c0004t0029 a0003c0004t0042 a0003c0004t0043 a0006c0012t0001 a0008c0011t0071 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0068 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0183 a0001c0001t0002g0307 a0001c0001t0002g0320 a0001c0001t0003g0044 a0001c0001t0005g0087 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0008g0016 a0001c0001t0008g0039 a0001c0001t0009g0018 a0001c0001t0009g0019 a0001c0001t0017g0080 a0001c0001t0017g0083 a0001c0001t0017g0084 a0001c0001t0019g0359 a0001c0001t0020g0046 a0001c0001t0020g0090 a0001c0001t0021g0026 a0001c0001t0022g0005 a0001c0001t0022g0056 a0001c0001t0031g0128 a0001c0001t0031g0133 a0001c0001t0032g0129 a0001c0001t0032g0136 a0001c0001t0034g0045 a0001c0001t0036g0036 a0001c0001t0036g0060 a0001c0001t0048g0118 a0001c0001t0055g0015 a0001c0001t0056g0077 a0001c0001t0058g0095 a0001c0001t0059g0096 a0003c0004t0013g0116 a0003c0004t0013g0124 a0003c0004t0013g0125 a0003c0004t0013g0194 a0003c0004t0025g0022 a0003c0004t0025g0024 a0003c0004t0025g0025 a0003c0004t0029g0006 a0003c0004t0042g0123 a0003c0004t0043g0126 a0006c0012t0001g0091 a0008c0011t0071g0023 a0009c0010t0001g0220	116	225	0.5156	-34	c.349 others(49): Show c.349-639_349-606delATATATATATATATATATATATATATATAT ATAT	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	4/15			chr1	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0135 a0004c0004t0004g0135	1	71	0.0141	-34	c.17 others(45): Show c.1735_*1768delTATATATATATATATATATATATATATATATATA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		912		chr7	TogoVar
ESCO2_chr8_27769554_27810316	27802623	AAAAAAAA others(27): Show AAAAAAAAATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18975.hp2 NA19067.hp2 others(2): Show NA18955.hp1 NA18975.hp2 NA19067.hp2 NA19077.hp1 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0021 a0003c0003t0008g0060 a0003c0003t0008g0061 a0003c0003t0008g0021 a0003c0003t0008g0060 a0003c0003t0008g0061	5	371	0.0135	-34	c.167 others(51): Show c.1674-681_1674-648delAAAAAAATATATATATATATATATATAT ATATTA	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76458449	CACACACA others(27): Show CACACACACACACACACACACAAACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02165.hp2 others(1): Show HG01256.hp1 HG01258.hp1 HG02165.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0166 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0166 a0001c0001t0017g0024	4	316	0.0127	-34	c.461 others(51): Show c.461-4095_461-4062delACACACACACACACACACACAAACACAC ACACAT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6			chr14	TogoVar
ESYT2_chr7_158725997_158834509	158814313	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0179 a0003c0003t0007g0179	1	368	0.0027	-34	c.330 others(53): Show c.330+14742_330+14775delCATATATATATATATATATATATATA TATATATA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETHE1_chr19_43501719_43532201	43502440	TTCTTTTT others(27): Show TTCTTTTTCTTTCTTATCTTTTTTTTTTTTTTGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	406	0.0025	-34	c.43 others(45): Show c.4376_*4409delGACAAAAAAAAAAAAAAGATAAGAAAGAAAAAGA	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding		4278		chr19	TogoVar
ETV6_chr12_11644674_11900377	11893813	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01070.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0044 a0001c0002t0018g0058 a0001c0002t0018g0044 a0001c0002t0018g0058	2	260	0.0077	-34	c.27 others(45): Show c.2769_*2802delTATATATATATATATATATATATATATACACACA	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	8/8	2769	INFO_REALIGN_3_PRIME	chr12	TogoVar
EVI5_chr1_92503696_92790108	92513533	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02486.hp1 others(7): Show HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0023 others(2): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0023 a0001c0001t0026 a0001c0001t0036	a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0009g0009 others(7): Show a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0014g0003 a0001c0001t0014g0004 a0001c0001t0023g0053 a0001c0001t0023g0054 a0001c0001t0026g0006 a0001c0001t0036g0013	10	166	0.0602	-34	c.89 others(42): Show c.89_*122delCATATATATATATATATATATATATATATATATA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20	89		chr1	TogoVar
EXOC4_chr7_133248078_134070761	133823861	ATATATAT others(27): Show ATATATATATATTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03704.hp1 HG04184.hp1 HG01346.hp2 HG03704.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0031 a0001c0004t0001g0090 a0001c0004t0002g0030 a0001c0001t0001g0031 a0001c0004t0001g0090 a0001c0004t0002g0030	3	98	0.0306	-34	c.173 others(53): Show c.1734+6329_1734+6362delTATATATATATATATATATATTTTAT ATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133823879	TATATATA others(27): Show TATATATATATATATTTTATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	100	0.0100	-34	c.173 others(53): Show c.1734+6336_1734+6369delATATATATATATATTTTATATATATA TATATAAA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17			chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857148	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01071.hp2 others(16): Show HG00323.hp2 HG00738.hp1 HG01071.hp2 HG01192.hp2 HG01261.hp2 HG01943.hp2 HG02071.hp2 HG02080.hp2 HG02622.hp2 HG02976.hp2 HG03516.hp2 HG03704.hp1 HG04184.hp1 NA18906.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19065.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0004t0001 a0001c0004t0002 a0001c0006t0010 a0001c0007t0008	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0031 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0002g0003 a0001c0001t0003g0032 a0001c0001t0003g0070 a0001c0001t0003g0095 a0001c0001t0009g0001 a0001c0001t0017g0094 a0001c0004t0001g0010 a0001c0004t0001g0017 a0001c0004t0001g0041 a0001c0004t0001g0072 a0001c0004t0002g0029 a0001c0004t0002g0030 a0001c0006t0010g0035 a0001c0007t0008g0081	19	59	0.3220	-34	c.173 others(55): Show c.1735-38431_1735-38398delATATATATATATATATATATATAT ATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857291	ATATATAC others(27): Show ATATATACACGTATATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0024 a0001c0005t0012g0024	1	100	0.0100	-34	c.173 others(55): Show c.1735-38301_1735-38268delCACGTATATATATATATATATATA CACGTATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857301	GTATATAT others(27): Show GTATATATATATATATATATACACGTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	88	0.0114	-34	c.173 others(55): Show c.1735-38277_1735-38244delCACGTATATATATATATATATATA TATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72631445	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 HG01261.hp2 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0086 a0001c0003t0001g0082 a0001c0003t0001g0086	2	96	0.0208	-34	c.670 others(53): Show c.670-55811_670-55778delCTCTCTCTCTCTCTCTCTATATATAT ATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631447	TATATATA others(27): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG02965.hp2 others(1): Show HG00735.hp1 HG01256.hp2 HG02965.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0044 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0044 a0001c0001t0003g0056	4	96	0.0417	-34	c.670 others(53): Show c.670-55813_670-55780delCTCTCTCTCTCTCTCTCTCTATATAT ATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631451	TATATATA others(27): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG02818.hp1 others(1): Show HG00323.hp1 HG00642.hp2 HG02818.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0058 a0001c0001t0007g0036 a0001c0001t0011g0037 others(1): Show a0001c0001t0001g0058 a0001c0001t0007g0036 a0001c0001t0011g0037 a0001c0001t0012g0027	4	94	0.0426	-34	c.670 others(53): Show c.670-55817_670-55784delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631453	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp1 HG02257.hp1 HG01123.hp2 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0032 a0001c0001t0003g0057 a0001c0001t0008g0012 a0001c0001t0002g0032 a0001c0001t0003g0057 a0001c0001t0008g0012	3	89	0.0337	-34	c.670 others(53): Show c.670-55819_670-55786delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631455	TATATATA others(27): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03041.hp2 NA19030.hp2 others(2): Show HG01169.hp2 HG03041.hp2 NA19030.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0008t0016	a0001c0001t0002g0030 a0001c0001t0002g0054 a0001c0001t0007g0046 others(2): Show a0001c0001t0002g0030 a0001c0001t0002g0054 a0001c0001t0007g0046 a0001c0001t0012g0050 a0001c0008t0016g0033	5	95	0.0526	-34	c.670 others(53): Show c.670-55821_670-55788delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631457	TATATAGA others(27): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	98	0.0102	-34	c.670 others(53): Show c.670-55823_670-55790delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00738.hp1 others(26): Show HG00438.hp2 HG00544.hp2 HG00738.hp1 HG01168.hp2 HG01433.hp2 HG01884.hp1 HG02071.hp2 HG02280.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp2 HG04115.hp1 NA18954.hp1 NA18956.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0005g0046 a0001c0001t0006g0012 a0001c0001t0009g0037 a0001c0001t0009g0092	29	163	0.1779	-34	c.-36 others(45): Show c.-3636_-3603delACACACACACACACACACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38492771	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG03098.hp2 NA18951.hp1 others(6): Show HG00609.hp2 HG03098.hp2 NA18951.hp1 NA18960.hp1 NA18966.hp2 NA18973.hp2 NA19080.hp2 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0119 others(4): Show a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0119 a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0015g0177	9	410	0.0220	-34	c.-35 others(45): Show c.-3596_-3563delACACACACACACACACACACACACACACACACAT	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3568		chr3	TogoVar
EXPH5_chr11_108500435_108598768	108573164	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0033 a0033	a0033c0027 a0033c0027	a0033c0027t0041 a0033c0027t0041	a0033c0027t0041g0116 a0033c0027t0041g0116	1	312	0.0032	-34	c.119 others(53): Show c.119+20220_119+20253delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	118073614	GGAAGAGA others(27): Show GGAAGAGAAGAGAAGAGAAAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0092 a0001c0001t0015g0091 a0001c0001t0006g0092 a0001c0001t0015g0091	2	182	0.0110	-34	c.962 others(53): Show c.962+36437_962+36470delTCTTCTCTTCTCTTCTTTCTCTTCTC TTCTCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113681	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0094 a0001c0003t0046g0094	1	184	0.0054	-34	c.-26 others(45): Show c.-2669_-2636delTATATATATATATATATATAGAGAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1856		chr8	TogoVar
EYS_chr6_63714980_65712226	64151311	GTATATTT others(27): Show GTATATTTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0015 a0011c0010t0001g0015	1	22	0.0455	-34	c.642 others(55): Show c.6425-69343_6425-69310delTATATATATATATATATATATATA TATAAATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803572	TATATATA others(27): Show TATATATATACATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	297	0.0034	-34	c.13- others(51): Show c.13-14235_13-14202delGTATATATATATATATATATATATGTAT ATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F10_chr13_113117799_113154529	113154178	GGGAGGAG others(27): Show GGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG00099.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0117 a0001c0001t0001g0123	2	409	0.0049	-34	c.46 others(45): Show c.4662_*4695delGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4650		chr13	TogoVar
F13A1_chr6_6139084_6325662	6316078	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG01496.hp1 others(3): Show HG01168.hp1 HG01255.hp1 HG01496.hp1 HG01943.hp1 HG02293.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0024 a0001c0001 a0002c0002 a0003c0024	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0024t0002	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0002g0050 a0002c0002t0001g0109 a0003c0024t0002g0071	6	34	0.1765	-34	c.130 others(51): Show c.130+2423_130+2456delATATATATATATATATATATATATATAT ATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F7_chr13_113100791_113125685	113107254	GGGAGTGT others(27): Show GGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02109.hp1 others(16): Show HG01069.hp1 HG01071.hp1 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA18964.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0010	a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0201 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0150 a0001c0001t0005g0013 a0001c0001t0005g0069 a0001c0003t0010g0042	19	398	0.0477	-34	c.64+ others(49): Show c.64+1383_64+1416delAGGAGTGTGGGTGTCCCGGGGGCGTGGGTG TCCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107346	TGGGTGTC others(27): Show TGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02132.hp1 HG02145.hp2 others(4): Show HG02129.hp2 HG02132.hp1 HG02145.hp2 NA18942.hp1 NA18945.hp2 NA18965.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0043 a0001c0001t0001g0151 a0001c0001t0001g0158 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0004g0194	7	395	0.0177	-34	c.64+ others(49): Show c.64+1470_64+1503delAGGCGAGGGTGTCCCGGGAGTGTGGGTGTC CCGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107633	TGTGGGTG others(27): Show TGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0015 a0002c0010t0015	a0002c0010t0015g0084 a0002c0010t0015g0084	1	396	0.0025	-34	c.64+ others(49): Show c.64+1762_64+1795delCGTGGGTGTCCCGGGGGCGTGGGTGTCCCG GGAG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAF1_chr1_50432028_50965267	50746266	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0133 a0001c0001t0019g0133	1	185	0.0054	-34	c.368 others(51): Show c.368-1525_368-1492delAAAAAAAATATATATATATATATATATA TATATA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50819706	TATATATA others(27): Show TATATATATACGTATATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0078 a0001c0001t0022g0078	1	187	0.0053	-34	c.115 others(53): Show c.115-18063_115-18030delGTATATATATGTATATATATATACGT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50819744	TATATATA others(27): Show TATATATACATATATATATACGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02818.hp2 others(2): Show HG02257.hp1 HG02486.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0054 a0001c0001t0007g0070 a0001c0001t0007g0074 others(2): Show a0001c0001t0007g0054 a0001c0001t0007g0070 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0003t0007g0072	5	188	0.0266	-34	c.115 others(53): Show c.115-18101_115-18068delGTATATATATATACGTATATATATAT GTATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50819754	TATATATA others(27): Show TATATATATACGTATATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02886.hp2 HG01175.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0071 a0001c0001t0028g0073 a0001c0001t0007g0071 a0001c0001t0028g0073	2	182	0.0110	-34	c.115 others(53): Show c.115-18111_115-18078delGTATATATATGTATATATATATACGT ATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAF2_chr5_176443385_176515074	176451809	TACACACA others(27): Show TACACACATATATATATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(20): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG01109.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02572.hp1 HG02809.hp1 NA18940.hp1 NA18947.hp1 NA18953.hp1 NA18960.hp1 NA18965.hp1 NA18975.hp1 NA18984.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0005g0027 others(20): Show a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0005g0027 a0001c0001t0005g0244 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0282 a0001c0001t0005g0362 a0001c0001t0005g0363 a0001c0001t0005g0364 a0001c0001t0005g0365	23	369	0.0623	-34	c.63+ others(49): Show c.63+3345_63+3378delCATATATATATATACATATATATATATACA CACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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