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
DLGAP1_chr18_3491032_4460307	3728322	ATATATAC others(38): Show ATATATACATGTTTCATATGCACGCATTGTCATATATAGCCCACGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0034 a0001c0002t0024g0034	1	80	0.0125	-45	c.159 others(62): Show c.1591+768_1591+812delCCGTGGGCTATATATGACAATGCGTGCA TATGAAACATGTATATA		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12						chr18	TogoVar
DLGAP2_chr8_732628_1713476	802065	CCCTCCTG others(38): Show CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02258.hp2 HG02818.hp2 others(3): Show HG02074.hp1 HG02258.hp2 HG02818.hp2 HG02976.hp2 HG03710.hp2 NA18906.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0009 a0006c0011	a0001c0002t0001 a0001c0002t0010 a0001c0003t0006 others(3): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0006 a0002c0001t0020 a0002c0009t0021 a0006c0011t0016	a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 others(3): Show a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 a0002c0001t0020g0024 a0002c0009t0021g0014 a0006c0011t0016g0029	6	40	0.1500	-45	c.18+ others(62): Show c.18+64281_18+64325delACACACCTCCTGGGCCCTCCGTCCTCAC GGCCTGGGGAATGGTCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1215405	AGGGTGCA others(38): Show AGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02818.hp2 HG02976.hp1 others(2): Show HG02071.hp1 HG02818.hp2 HG02976.hp1 HG03486.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 others(1): Show a0001c0002 a0002c0001 a0002c0004 a0002c0009	a0001c0002t0006 a0002c0001t0002 a0002c0001t0005 others(2): Show a0001c0002t0006 a0002c0001t0002 a0002c0001t0005 a0002c0004t0026 a0002c0009t0021	a0001c0002t0006g0011 a0002c0001t0002g0032 a0002c0001t0005g0035 others(2): Show a0001c0002t0006g0011 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0004t0026g0016 a0002c0009t0021g0014	5	40	0.1250	-45	c.74- others(62): Show c.74-43099_74-43055delGGATGGGTTCATTTGGGTGCATCACCTG GAGACGTCCAGGTACCT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1405924	CCTCCTTG others(38): Show CCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03486.hp2 HG01361.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0023 a0001c0012t0012 a0001c0002t0023 a0001c0012t0012	a0001c0002t0023g0005 a0001c0012t0012g0006 a0001c0002t0023g0005 a0001c0012t0012g0006	2	40	0.0500	-45	c.107 others(64): Show c.107-95395_107-95351delTCCTTGTCCTCCGGAGTCGTGTATTG AGTGCTTACTGAGCGCCAC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMPK_chr19_45764717_45787490	45770204	CCAGCAGC others(38): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(93): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp2 NA18947.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0007 a0001c0010 others(3): Show a0001c0001 a0001c0007 a0001c0010 a0001c0017 a0007c0013 a0010c0019	a0001c0001t0001 a0001c0001t0040 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0040 a0001c0007t0001 a0001c0010t0001 a0001c0017t0001 a0007c0013t0001 a0010c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0074 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0040g0149 a0001c0007t0001g0046 a0001c0007t0001g0160 a0001c0010t0001g0145 a0001c0010t0001g0164 a0001c0017t0001g0159 a0007c0013t0001g0146 a0010c0019t0001g0161	96	416	0.2308	-45	c.23 others(54): Show c.239_*283delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTG		DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15				239		chr19	TogoVar
DNAAF5_chr7_721699_791475	756074	CGGTGCAG others(38): Show CGGTGCAGAGGGGCTGGTGTGTGTGTGATCCACTGTGGAATCCCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	378	0.0027	-45	c.125 others(62): Show c.1258-677_1258-633delACTGTGGAATCCCATGGTGCAGAGGGGC TGGTGTGTGTGTGATCC		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH14_chr1_224924675_225404286	225403850	GGATCCCC others(38): Show GGATCCCCCTGCTCCCCCAGTTCCCCCAGCTCCCCCAGCTTCCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 NA20752.hp1 NA20805.hp2 HG01515.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149	3	240	0.0125	-45	c.45 others(56): Show c.4582_*4626delGATCCCCCTGCTCCCCCAGTTCCCCCAGCTCCCC CAGCTTCCCAA		DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding					4565		chr1	TogoVar
DNAH17_chr17_78418697_78582396	78541029	GTGGGTGG others(38): Show GTGGGTGGGTGAGCGGATGGGTGGGTGGCGTGGGTGGGTGAGCGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0061 a0061	a0061c0198 a0061c0198	a0061c0198t0008 a0061c0198t0008	a0061c0198t0008g0108 a0061c0198t0008g0108	1	252	0.0040	-45	c.253 others(64): Show c.2533-1194_2533-1150delTCCGCTCACCCACCCACGCCACCCAC CCATCCGCTCACCCACCCA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAH8_chr6_38710311_39035792	38874137	TTCTCTTT others(38): Show TTCTCTTTCTCCTTCCTTCCTTCCTCCTTCTCTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00733.hp1 others(26): Show HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01081.hp1 HG01496.hp2 HG01975.hp2 HG02040.hp2 HG02074.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03453.hp2 HG03688.hp1 HG04184.hp1 NA18942.hp1 NA18957.hp1 NA18964.hp1 NA18974.hp2 NA18979.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19077.hp1	a0001 a0003 a0005 others(10): Show a0001 a0003 a0005 a0007 a0008 a0010 a0011 a0015 a0042 a0050 a0060 a0077 a0079	a0001c0035 a0001c0040 a0003c0006 others(17): Show a0001c0035 a0001c0040 a0003c0006 a0003c0015 a0003c0089 a0005c0005 a0005c0023 a0005c0058 a0007c0012 a0008c0011 a0008c0018 a0008c0052 a0010c0009 a0011c0119 a0015c0093 a0042c0075 a0050c0110 a0060c0069 a0077c0057 a0079c0090	a0001c0035t0001 a0001c0040t0002 a0003c0006t0001 others(17): Show a0001c0035t0001 a0001c0040t0002 a0003c0006t0001 a0003c0015t0001 a0003c0089t0002 a0005c0005t0001 a0005c0023t0001 a0005c0058t0001 a0007c0012t0001 a0008c0011t0001 a0008c0018t0001 a0008c0052t0001 a0010c0009t0001 a0011c0119t0001 a0015c0093t0001 a0042c0075t0001 a0050c0110t0001 a0060c0069t0001 a0077c0057t0002 a0079c0090t0002	a0001c0035t0001g0166 a0001c0040t0002g0133 a0003c0006t0001g0095 others(26): Show a0001c0035t0001g0166 a0001c0040t0002g0133 a0003c0006t0001g0095 a0003c0015t0001g0273 a0003c0089t0002g0126 a0005c0005t0001g0032 a0005c0005t0001g0099 a0005c0005t0001g0102 a0005c0005t0001g0202 a0005c0023t0001g0213 a0005c0023t0001g0218 a0005c0058t0001g0165 a0007c0012t0001g0021 a0007c0012t0001g0180 a0007c0012t0001g0243 a0007c0012t0001g0255 a0008c0011t0001g0248 a0008c0018t0001g0038 a0008c0018t0001g0173 a0008c0052t0001g0004 a0010c0009t0001g0062 a0010c0009t0001g0281 a0011c0119t0001g0148 a0015c0093t0001g0011 a0042c0075t0001g0082 a0050c0110t0001g0006 a0060c0069t0001g0122 a0077c0057t0002g0266 a0079c0090t0002g0167	29	284	0.1021	-45	c.762 others(62): Show c.7620+767_7620+811delTTCTCCTTCCTTCCTTCCTCCTTCTCTC TTTCTTTCTTTCTCTCT		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92					INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAJB5_chr9_34984745_35003428	34987862	CATCCCTC others(38): Show CATCCCTCACCCTGCCTTCCTGCCCCTCCCCAGCCCTTCTTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA20905.hp2 HG03688.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0031 a0001c0001t0003g0022 a0001c0001t0003g0031	2	450	0.0044	-45	c.-21 others(56): Show c.-2101_-2057delATCCCTCACCCTGCCTTCCTGCCCCTCCCCAGCC CTTCTTTCCTT		DNAJB5	ENSG00000137094.16	transcript	ENST00000682809.1	protein_coding					1882		chr9	TogoVar
DNER_chr2_229352629_229719555	229554857	AAAGAGAA others(38): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0134 a0001c0007t0001g0134	1	176	0.0057	-45	c.848 others(62): Show c.848-7810_848-7766delCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTT		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12						chr2	TogoVar
DNM1L_chr12_32674301_32750650	32717383	AATATATA others(38): Show AATATATAGTATATATAATATATAATATATATTTTAAATATATACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01123.hp1 others(22): Show HG00140.hp1 HG00639.hp2 HG01123.hp1 HG01243.hp1 HG01516.hp2 HG02129.hp1 HG02258.hp1 HG02300.hp1 HG02615.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03834.hp1 HG06807.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18977.hp2 NA18985.hp2 NA18994.hp2 NA19004.hp1 NA19030.hp2 NA19063.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 others(1): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017	a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0020 others(21): Show a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0013g0045 a0001c0002t0013g0046 a0001c0002t0013g0047 a0001c0002t0016g0017 a0001c0002t0017g0024	25	230	0.1087	-45	c.620 others(62): Show c.620-1252_620-1208delGTATATATAATATATAATATATATTTTA AATATATACTATATATA		DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK3_chr3_50669927_51389198	50970846	AAGTTTCT others(38): Show AAGTTTCTGGGACTACAGGCACATACTACCACACTCATCTAATTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19043.hp1 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0182 a0001c0001t0001g0122 a0001c0001t0001g0182	2	212	0.0094	-45	c.315 others(64): Show c.315+36770_315+36814delAGTTTCTGGGACTACAGGCACATACT ACCACACTCATCTAATTTT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52						chr3	TogoVar
DOCK3_chr3_50669927_51389198	51041178	ATATATAT others(38): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	212	0.0047	-45	c.316 others(64): Show c.316-23268_316-23224delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOP1B_chr21_36151824_36299274	36257771	GAGATGTA others(38): Show GAGATGTAGGTAGGTAGGTAGGTAGATGTAGGGTAGGTATGTAGAT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0228 a0002c0004t0001g0228	1	292	0.0034	-45	c.526 others(64): Show c.5260-2885_5260-2841delGTAGATGTAGGGTAGGTATGTAGATA GATGTAGGTAGGTAGGTAG		DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	23/36					INFO_REALIGN_3_PRIME	chr21	TogoVar
DPP6_chr7_154047398_154899285	154431442	CTTTCTTT others(38): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp2 others(13): Show HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01071.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG03453.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0017 a0001c0024 a0001c0027 a0002c0002 a0002c0005 a0002c0008 a0002c0009 a0002c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0003t0007 a0001c0006t0002 a0001c0011t0003 a0001c0017t0020 a0001c0024t0028 a0001c0027t0027 a0002c0002t0022 a0002c0002t0029 a0002c0005t0015 a0002c0005t0024 a0002c0008t0006 a0002c0009t0004 a0002c0013t0018	a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(13): Show a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0011t0003g0012 a0001c0017t0020g0033 a0001c0024t0028g0003 a0001c0027t0027g0007 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0008t0006g0034 a0002c0009t0004g0004 a0002c0013t0018g0026	16	38	0.4211	-45	c.244 others(64): Show c.244-14749_244-14705delTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTT		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154778833	TGTACAAC others(38): Show TGTACAACCTCCACCACCACCACCTCCACAACCTTTACAACTTCCA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0030 a0002c0002t0022g0030	1	38	0.0263	-45	c.113 others(64): Show c.1136+5892_1136+5936delGTACAACCTCCACCACCACCACCTCC ACAACCTTTACAACTTCCA		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25						chr7	TogoVar
DPYD_chr1_97072743_97926034	97323550	CATATATG others(38): Show CATATATGTGTATATATACACGTATATATACATATCATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03491.hp1 NA19030.hp2 HG02886.hp1 HG03491.hp1 NA19030.hp2	a0007 a0011 a0007 a0011	a0007c0008 a0011c0011 a0007c0008 a0011c0011	a0007c0008t0001 a0007c0008t0002 a0011c0011t0004 a0007c0008t0001 a0007c0008t0002 a0011c0011t0004	a0007c0008t0001g0040 a0007c0008t0002g0038 a0011c0011t0004g0049 a0007c0008t0001g0040 a0007c0008t0002g0038 a0011c0011t0004g0049	3	52	0.0577	-45	c.205 others(66): Show c.2059-17298_2059-17254delATGTATATATGATATGTATATATA CGTGTATATATACACATATAT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22						chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132187339	CGGCCCTG others(38): Show CGGCCCTGCCCGGCCCTGCCGGGCCCTGCCGGGCCCTGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18906.hp2 HG00735.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0198 a0001c0001t0008g0199 a0001c0001t0002g0198 a0001c0001t0008g0199	2	418	0.0048	-45	c.39+ others(58): Show c.39+238_39+282delGGCCCTGCCCGGCCCTGCCGGGCCCTGCCGGG CCCTGCCCGGCCT		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13						chr10	TogoVar
DSCAML1_chr11_117422772_117802216	117486307	AGTGGATG others(38): Show AGTGGATGTGAAAGTAGCGGATGTGAAAATGGCGGATGTGATAATG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0087 a0001c0018t0002g0087	1	194	0.0052	-45	c.236 others(64): Show c.2360-4190_2360-4146delCATTATCACATCCGCCATTTTCACAT CCGCTACTTTCACATCCAC		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117486360	TGAAAGTG others(38): Show TGAAAGTGGCTGATGTGAAAATGGCGGATGTGAAAGTGGCGGATGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp1 NA18522.hp2 HG02451.hp1 HG03098.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0001c0023 a0002c0062 a0001c0011 a0001c0023 a0002c0062	a0001c0011t0004 a0001c0023t0001 a0002c0062t0002 a0001c0011t0004 a0001c0023t0001 a0002c0062t0002	a0001c0011t0004g0064 a0001c0023t0001g0062 a0002c0062t0002g0193 a0001c0011t0004g0064 a0001c0023t0001g0062 a0002c0062t0002g0193	3	194	0.0155	-45	c.236 others(64): Show c.2360-4243_2360-4199delCCATCCGCCACTTTCACATCCGCCAT TTTCACATCAGCCACTTTC		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117577437	TTTCCTTC others(38): Show TTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG02056.hp2 others(20): Show HG00621.hp2 HG00738.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA18964.hp1 NA18989.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0009 others(15): Show a0001c0005 a0001c0007 a0001c0009 a0001c0013 a0001c0014 a0001c0018 a0001c0024 a0001c0026 a0001c0027 a0001c0039 a0002c0001 a0002c0002 a0002c0006 a0002c0010 a0002c0032 a0002c0059 a0002c0064 a0002c0065	a0001c0005t0001 a0001c0007t0001 a0001c0009t0002 others(16): Show a0001c0005t0001 a0001c0007t0001 a0001c0009t0002 a0001c0013t0001 a0001c0014t0003 a0001c0018t0001 a0001c0018t0002 a0001c0024t0003 a0001c0026t0001 a0001c0027t0001 a0001c0039t0001 a0002c0001t0002 a0002c0002t0003 a0002c0006t0001 a0002c0010t0004 a0002c0032t0003 a0002c0059t0003 a0002c0064t0002 a0002c0065t0003	a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0007t0001g0111 others(20): Show a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0007t0001g0111 a0001c0007t0001g0112 a0001c0009t0002g0019 a0001c0013t0001g0071 a0001c0014t0003g0095 a0001c0018t0001g0098 a0001c0018t0002g0134 a0001c0024t0003g0073 a0001c0026t0001g0003 a0001c0027t0001g0122 a0001c0039t0001g0155 a0002c0001t0002g0175 a0002c0002t0003g0013 a0002c0002t0003g0159 a0002c0002t0003g0194 a0002c0006t0001g0164 a0002c0010t0004g0116 a0002c0032t0003g0001 a0002c0059t0003g0035 a0002c0064t0002g0117 a0002c0065t0003g0153	23	194	0.1186	-45	c.512 others(64): Show c.512-44960_512-44916delGGAAGGAAGGAAGGAAGGAAGGAAAG GAAGGAAGGAAGGAAGGAA		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSG3_chr18_31442741_31483702	31457540	TTTCTTTC others(38): Show TTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02647.hp2 HG02818.hp2 others(1): Show HG01175.hp2 HG02647.hp2 HG02818.hp2 HG03209.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0011 a0008c0012 a0001c0003 a0001c0011 a0008c0012	a0001c0003t0028 a0001c0011t0030 a0008c0012t0027 a0001c0003t0028 a0001c0011t0030 a0008c0012t0027	a0001c0003t0028g0201 a0001c0003t0028g0203 a0001c0011t0030g0243 others(1): Show a0001c0003t0028g0201 a0001c0003t0028g0203 a0001c0011t0030g0243 a0008c0012t0027g0204	4	346	0.0116	-45	c.216 others(60): Show c.216+425_216+469delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCT		DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr18	TogoVar
DSPP_chr4_87603529_87621873	87615783	GATAGCAG others(38): Show GATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01928.hp1 HG01928.hp1	a0034 a0034	a0034c0054 a0034c0054	a0034c0054t0001 a0034c0054t0001	a0034c0054t0001g0026 a0034c0054t0001g0026	1	450	0.0022	-45	c.313 others(54): Show c.3138_3182delCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAG TGACAGCAG	p.Asp others(15): Show p.Asp1047_Ser1061del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3258/4331	3138/3906	1046/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTD1_chr20_18583054_18771644	18708228	TATTTTAT others(38): Show TATTTTATATATATATAATATATATTATATATATATTTTATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	398	0.0025	-45	c.478 others(64): Show c.478-35871_478-35827delATTTTATATATATATAATATATATTA TATATATATTTTATATATA		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5						chr20	TogoVar
DTHD1_chr4_36276616_36352511	36332187	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00735.hp2 others(33): Show HG00140.hp1 HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp1 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01981.hp1 HG02004.hp2 HG02080.hp1 HG02129.hp1 HG02273.hp1 HG02523.hp2 HG03017.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp2 NA18945.hp1 NA18952.hp1 NA18993.hp2 NA19000.hp1 NA19066.hp2 NA19080.hp1 NA19086.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0012 a0014 a0019	a0001c0002 a0001c0004 a0001c0033 others(5): Show a0001c0002 a0001c0004 a0001c0033 a0002c0003 a0007c0013 a0012c0032 a0014c0042 a0019c0046	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(11): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0002t0025 a0001c0004t0003 a0001c0004t0013 a0001c0004t0016 a0001c0033t0009 a0002c0003t0006 a0007c0013t0006 a0012c0032t0009 a0014c0042t0001 a0019c0046t0013	a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0206 others(33): Show a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0206 a0001c0002t0005g0029 a0001c0002t0005g0071 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0218 a0001c0002t0005g0242 a0001c0002t0006g0036 a0001c0002t0006g0141 a0001c0002t0006g0147 a0001c0002t0006g0162 a0001c0002t0006g0164 a0001c0002t0006g0168 a0001c0002t0006g0169 a0001c0002t0015g0165 a0001c0002t0025g0198 a0001c0004t0003g0023 a0001c0004t0003g0262 a0001c0004t0003g0284 a0001c0004t0003g0285 a0001c0004t0013g0022 a0001c0004t0013g0274 a0001c0004t0013g0275 a0001c0004t0013g0276 a0001c0004t0013g0277 a0001c0004t0013g0278 a0001c0004t0013g0279 a0001c0004t0016g0280 a0001c0033t0009g0144 a0002c0003t0006g0238 a0007c0013t0006g0235 a0012c0032t0009g0167 a0014c0042t0001g0233 a0019c0046t0013g0282	36	308	0.1169	-45	c.234 others(64): Show c.2341-6897_2341-6853delAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAA		DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
DUT_chr15_48326429_48348373	48330409	CTTAGTAC others(38): Show CTTAGTACAAGCAAGGAATCAAATAGTATGTCTCTCATGTGAACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00673.hp1 others(45): Show HG00323.hp2 HG00408.hp1 HG00673.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01975.hp2 HG01981.hp2 HG02071.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02735.hp2 HG02897.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18966.hp2 NA18968.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA18995.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19075.hp1 NA19080.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0007c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0004c0007t0001 a0007c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0062 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0003g0001 a0001c0002t0002g0019 a0001c0002t0002g0030 a0004c0007t0001g0008 a0007c0004t0001g0001	48	388	0.1237	-45	c.-11 others(56): Show c.-1106_-1062delTTAGTACAAGCAAGGAATCAAATAGTATGTCTCT CATGTGAACAT		DUT	ENSG00000128951.14	transcript	ENST00000331200.8	protein_coding					1019		chr15	TogoVar
DZIP1_chr13_95573202_95649706	95643211	CGGGGAAT others(38): Show CGGGGAATTCCTGCTTGGACCAGACATCAGGAATTTTTTTTTCTTT	C C	splice_region_variant splice_region_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0011 a0001c0001t0038g0011	1	382	0.0026	-45	c.-42 others(54): Show c.-426_-382delAAAGAAAAAAAAATTCCTGATGTCTGGTCCAAGCAG GAATTCCCC		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	3/23						chr13	TogoVar
ECHS1_chr10_133357485_133378354	133377838	GAGCCAGC others(38): Show GAGCCAGCGGCTCTGCTTCAGGCCCAAGAGCAGGGAGTAAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0160 a0003c0004t0002g0160	1	354	0.0028	-45	c.-45 others(56): Show c.-4550_-4506delTCTCTCTTACTCCCTGCTCTTGGGCCTGAAGCAG AGCCGCTGGCT		ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding					4485		chr10	TogoVar
EDA_chrX_69611113_70044472	69612261	GTTTTATT others(38): Show GTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0100 a0001c0001t0022g0100	1	226	0.0044	-45	c.-40 others(56): Show c.-4047_-4003delTTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding					3851		chrX	TogoVar
EEPD1_chr7_36148254_36306538	36271839	CTATTCTA others(38): Show CTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp2 others(12): Show HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01168.hp1 HG01516.hp1 HG01943.hp1 HG02451.hp2 HG03516.hp1 HG04199.hp1 NA19005.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0002 a0001c0001 a0001c0010 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0033 a0001c0001t0042 a0001c0010t0025 a0003c0002t0062	a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0184 others(12): Show a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0088 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0330 a0001c0001t0005g0038 a0001c0001t0009g0331 a0001c0001t0033g0065 a0001c0001t0042g0037 a0001c0010t0025g0060 a0003c0002t0062g0244	15	346	0.0434	-45	c.931 others(62): Show c.931-9260_931-9216delTATTCTATTCTATTCTATTCTATTCTAT TGTATTCTATTCTATTC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3L_chr22_37844419_37894407	37891039	ATTCTCCT others(38): Show ATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(82): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02148.hp2 HG02300.hp1 HG02647.hp2 HG02683.hp1 HG02895.hp1 HG03017.hp1 HG03239.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0001c0006 others(2): Show a0001c0002 a0001c0003 a0001c0006 a0003c0008 a0004c0005	a0001c0002t0002 a0001c0003t0002 a0001c0006t0002 others(2): Show a0001c0002t0002 a0001c0003t0002 a0001c0006t0002 a0003c0008t0002 a0004c0005t0002	a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0015 others(79): Show a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0003t0002g0004 a0001c0003t0002g0044 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0294 a0001c0006t0002g0015 a0003c0008t0002g0055 a0004c0005t0002g0229	85	318	0.2673	-45	c.25 others(56): Show c.2576_*2620delTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGGCACCAT		EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding					1633		chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20816322	GCGGGGGG others(38): Show GCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(61): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00673.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA19000.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19077.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0012 others(1): Show a0001 a0005 a0012 a0013	a0001c0001 a0005c0007 a0012c0008 others(1): Show a0001c0001 a0005c0007 a0012c0008 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0005c0007t0003 a0012c0008t0003 a0013c0013t0003	a0001c0001t0001g0114 a0001c0001t0001g0199 a0001c0001t0001g0227 others(61): Show a0001c0001t0001g0114 a0001c0001t0001g0199 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0035 a0001c0001t0022g0299 a0001c0001t0027g0307 a0005c0007t0003g0265 a0012c0008t0003g0264 a0013c0013t0003g0028	64	312	0.2051	-45	c.451 others(64): Show c.4515+1025_4515+1069delACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCCCCCCCCCG		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36						chr1	TogoVar
EIPR1_chr2_3183970_3382818	3304492	GTCCCATC others(38): Show GTCCCATCAGTTCAGCCCTCCACTCCCGTCCAGTTCAACCCTCCAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0027 a0001c0001t0004g0026 a0001c0001t0002g0027 a0001c0001t0004g0026	2	250	0.0080	-45	c.259 others(64): Show c.259+33480_259+33524delTTGGAGGGTTGAACTGGACGGGAGTG GAGGGCTGAACTGATGGGA		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELK4_chr1_205602943_205637011	205631509	CCGGCCCC others(38): Show CCGGCCCCGGCCCCCGCCCCCACTTCCTGTTGTGCCGCGCGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp2 HG02071.hp1 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0077 a0001c0002t0002 a0001c0002t0077	a0001c0002t0002g0260 a0001c0002t0077g0259 a0001c0002t0002g0260 a0001c0002t0077g0259	2	424	0.0047	-45	c.-10 others(59): Show c.-10+78_-10+122delAGGGGCGCGCGGCACAACAGGAAGTGGGGGC GGGGGCCGGGGCCG		ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/4						chr1	TogoVar
ELOVL5_chr6_53262404_53353950	53306314	GGAGAGGG others(38): Show GGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	320	0.0031	-45	c.-8- others(62): Show c.-8-10652_-8-10608delTCTCCCCTCTCCCTCTCCCCTCTCCCCT CTCCCCTCTCCCCTCTC		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306342	GGAGAGGG others(38): Show GGAGAGGGAGAGGGGAGAGAGAGAGGGGAGAGGGAGAGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0303 a0001c0001t0006g0303	1	320	0.0031	-45	c.-8- others(62): Show c.-8-10680_-8-10636delTCTCTCCCCTCTCCCTCTCCCCTCTCTC TCTCCCCTCTCCCTCTC		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60819059	GGGAGGGG others(38): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0163 a0001c0001t0025g0163	1	258	0.0039	-45	c.-85 others(64): Show c.-85-19874_-85-19830delTCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819069	GGGAGGGG others(38): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0130 a0001c0001t0020g0130	1	258	0.0039	-45	c.-85 others(64): Show c.-85-19884_-85-19840delTCTCCTCTCCTCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819089	GGGAGGGG others(38): Show GGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01099.hp2 others(11): Show HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01346.hp2 HG01952.hp1 HG02027.hp1 HG02257.hp2 HG02683.hp1 HG02717.hp1 HG03490.hp1 HG03704.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0022	a0001c0001t0001g0101 a0001c0001t0005g0008 a0001c0001t0005g0011 others(10): Show a0001c0001t0001g0101 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0007g0001 a0001c0001t0007g0033 a0001c0001t0014g0024 a0001c0001t0022g0174	14	258	0.0543	-45	c.-85 others(64): Show c.-85-19904_-85-19860delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCCCCTCC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
EML5_chr14_88607431_88797953	88796326	ATTATATA others(38): Show ATTATATATATATTATATGTTATATATTTTATATATATATTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG03209.hp1 others(1): Show HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0013 a0001c0010t0013 a0001c0003t0013 a0001c0010t0013	a0001c0003t0013g0298 a0001c0003t0013g0299 a0001c0003t0013g0300 others(1): Show a0001c0003t0013g0298 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0010t0013g0301	4	332	0.0121	-45	c.-38 others(56): Show c.-3868_-3824delCATATAATATATATATAAAATATATAACATATAA TATATATATAA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3374		chr14	TogoVar
EML6_chr2_54718662_54977025	54956237	GTTTGTTT others(38): Show GTTTGTTTGCACTTCTCCCATGACTGGTGAGCTGGAATCTCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0027 a0001c0030 a0001c0031 a0001c0035 a0001c0037 a0001c0038 a0002c0008 a0002c0029 a0003c0013 a0004c0036 a0005c0023 a0006c0034 a0007c0032 a0008c0025 a0009c0033 a0010c0018 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(96): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0034 a0001c0001t0036 a0001c0001t0042 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0041 a0001c0002t0044 a0001c0002t0046 a0001c0002t0049 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0027 a0001c0003t0035 a0001c0003t0054 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0010 a0001c0004t0017 a0001c0004t0024 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0007 a0001c0005t0008 a0001c0005t0016 a0001c0005t0040 a0001c0006t0003 a0001c0006t0018 a0001c0006t0025 a0001c0006t0051 a0001c0007t0006 a0001c0007t0017 a0001c0007t0029 a0001c0007t0052 a0001c0009t0005 a0001c0009t0008 a0001c0010t0001 a0001c0010t0050 a0001c0011t0012 a0001c0011t0031 a0001c0012t0001 a0001c0012t0045 a0001c0014t0003 a0001c0015t0001 a0001c0015t0043 a0001c0016t0001 a0001c0019t0001 a0001c0020t0002 a0001c0021t0037 a0001c0022t0057 a0001c0024t0026 a0001c0027t0039 a0001c0030t0001 a0001c0031t0038 a0001c0035t0047 a0001c0037t0006 a0001c0038t0015 a0002c0008t0012 a0002c0008t0022 a0002c0029t0012 a0003c0013t0005 a0004c0036t0012 a0005c0023t0017 a0006c0034t0001 a0007c0032t0053 a0008c0025t0003 a0009c0033t0006 a0010c0018t0033 a0011c0017t0001	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0063 others(244): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0189 a0001c0001t0003g0096 a0001c0001t0003g0105 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0004g0029 a0001c0001t0004g0242 a0001c0001t0004g0259 a0001c0001t0005g0012 a0001c0001t0005g0033 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0070 a0001c0001t0005g0078 a0001c0001t0005g0215 a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0007g0026 a0001c0001t0007g0180 a0001c0001t0007g0199 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0008g0112 a0001c0001t0008g0123 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0059 a0001c0001t0014g0170 a0001c0001t0016g0031 a0001c0001t0018g0037 a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0019g0169 a0001c0001t0021g0044 a0001c0001t0021g0045 a0001c0001t0028g0184 a0001c0001t0034g0146 a0001c0001t0036g0174 a0001c0001t0042g0198 a0001c0001t0048g0069 a0001c0001t0055g0251 a0001c0001t0056g0258 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0041 a0001c0002t0001g0072 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0003g0125 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0005g0230 a0001c0002t0006g0003 a0001c0002t0006g0004 a0001c0002t0006g0006 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0055 a0001c0002t0006g0077 a0001c0002t0006g0161 a0001c0002t0006g0263 a0001c0002t0010g0010 a0001c0002t0010g0025 a0001c0002t0010g0054 a0001c0002t0010g0056 a0001c0002t0010g0071 a0001c0002t0011g0108 a0001c0002t0011g0264 a0001c0002t0013g0016 a0001c0002t0013g0022 a0001c0002t0013g0023 a0001c0002t0013g0024 a0001c0002t0015g0126 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0020g0164 a0001c0002t0023g0127 a0001c0002t0023g0142 a0001c0002t0024g0073 a0001c0002t0041g0095 a0001c0002t0044g0210 a0001c0002t0046g0051 a0001c0002t0049g0087 a0001c0003t0001g0252 a0001c0003t0001g0261 a0001c0003t0002g0062 a0001c0003t0002g0148 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0176 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0204 a0001c0003t0002g0240 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0009g0097 a0001c0003t0009g0100 a0001c0003t0009g0107 a0001c0003t0009g0111 a0001c0003t0009g0122 a0001c0003t0009g0132 a0001c0003t0009g0144 a0001c0003t0011g0115 a0001c0003t0015g0109 a0001c0003t0027g0149 a0001c0003t0035g0173 a0001c0003t0054g0166 a0001c0004t0001g0015 a0001c0004t0001g0052 a0001c0004t0001g0079 a0001c0004t0001g0081 a0001c0004t0001g0083 a0001c0004t0001g0088 a0001c0004t0001g0090 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0221 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0121 a0001c0004t0006g0086 a0001c0004t0006g0089 a0001c0004t0010g0060 a0001c0004t0017g0084 a0001c0004t0024g0050 a0001c0005t0001g0200 a0001c0005t0001g0206 a0001c0005t0001g0228 a0001c0005t0003g0116 a0001c0005t0003g0117 a0001c0005t0003g0130 a0001c0005t0005g0222 a0001c0005t0007g0002 a0001c0005t0007g0046 a0001c0005t0007g0047 a0001c0005t0007g0049 a0001c0005t0007g0185 a0001c0005t0007g0191 a0001c0005t0007g0201 a0001c0005t0008g0098 a0001c0005t0008g0099 a0001c0005t0008g0120 a0001c0005t0016g0082 a0001c0005t0016g0085 a0001c0005t0040g0094 a0001c0006t0003g0134 a0001c0006t0018g0039 a0001c0006t0018g0040 a0001c0006t0025g0212 a0001c0006t0025g0213 a0001c0006t0051g0038 a0001c0007t0006g0080 a0001c0007t0017g0172 a0001c0007t0029g0103 a0001c0007t0052g0001 a0001c0009t0005g0205 a0001c0009t0008g0106 a0001c0009t0008g0133 a0001c0010t0001g0237 a0001c0010t0050g0226 a0001c0011t0012g0011 a0001c0011t0031g0104 a0001c0012t0001g0027 a0001c0012t0045g0233 a0001c0014t0003g0124 a0001c0014t0003g0128 a0001c0015t0001g0030 a0001c0015t0043g0018 a0001c0016t0001g0091 a0001c0019t0001g0053 a0001c0020t0002g0250 a0001c0021t0037g0014 a0001c0022t0057g0262 a0001c0024t0026g0171 a0001c0027t0039g0216 a0001c0030t0001g0057 a0001c0031t0038g0074 a0001c0035t0047g0032 a0001c0037t0006g0007 a0001c0038t0015g0113 a0002c0008t0012g0058 a0002c0008t0022g0101 a0002c0008t0022g0102 a0002c0029t0012g0232 a0003c0013t0005g0035 a0003c0013t0005g0036 a0004c0036t0012g0013 a0005c0023t0017g0160 a0006c0034t0001g0208 a0007c0032t0053g0165 a0008c0025t0003g0110 a0009c0033t0006g0005 a0010c0018t0033g0129 a0011c0017t0001g0224	247	264	0.9356	-45	c.448 others(64): Show c.4487-1507_4487-1463delTTTGTTTGCACTTCTCCCATGACTGG TGAGCTGGAATCTCTTTCC		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
ENOSF1_chr18_665318_717630	667208	GTGATGGA others(38): Show GTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0011 a0004c0008t0004g0011	2	418	0.0048	-45	c.70 others(56): Show c.7052_*7096delTCACCATCACCATCTCCATCTCCATCACCATCAC CATCTCCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3109		chr18	TogoVar
ENOSF1_chr18_665318_717630	667411	GTGATGGT others(38): Show GTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA20129.hp1 NA20905.hp1 HG01433.hp1 NA20129.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0091 a0002c0002t0005g0132 a0002c0002t0005g0256 a0002c0002t0005g0091 a0002c0002t0005g0132 a0002c0002t0005g0256	3	418	0.0072	-45	c.68 others(56): Show c.6849_*6893delTCACCATCACCATCACCATCACCATCTCCATCAC CATCACCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2906		chr18	TogoVar
ENOSF1_chr18_665318_717630	667418	TGATGGTG others(38): Show TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	418	0.0024	-45	c.68 others(56): Show c.6842_*6886delTCCATCATCACCATCACCATCACCATCACCATCT CCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2899		chr18	TogoVar
ENOSF1_chr18_665318_717630	667430	AGATGGTG others(38): Show AGATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02698.hp2 NA18985.hp1 HG02451.hp2 HG02698.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0282 a0001c0001t0002g0088 a0001c0001t0002g0229 a0001c0001t0001g0282 a0001c0001t0002g0088 a0001c0001t0002g0229	3	418	0.0072	-45	c.68 others(56): Show c.6830_*6874delACCATCACCATCTCCATCATCACCATCACCATCA CCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2887		chr18	TogoVar
ENOSF1_chr18_665318_717630	667454	TGATGATG others(38): Show TGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA20300.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0226 a0001c0001t0006g0107 a0001c0001t0006g0226	2	418	0.0048	-45	c.68 others(56): Show c.6806_*6850delTCCATCACCATCACCATCACCATCACCATCACCA TCTCCATCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2863		chr18	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(38): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 NA19010.hp1 HG02922.hp1 HG03130.hp2 NA19010.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0004c0007 a0006c0010 a0002c0003 a0004c0007 a0006c0010	a0002c0003t0003 a0004c0007t0005 a0006c0010t0005 a0002c0003t0003 a0004c0007t0005 a0006c0010t0005	a0002c0003t0003g0026 a0004c0007t0005g0004 a0006c0010t0005g0002 a0002c0003t0003g0026 a0004c0007t0005g0004 a0006c0010t0005g0002	3	200	0.0150	-45	c.814 others(62): Show c.814+1222_814+1266delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566912	AGGAGAAG others(38): Show AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03704.hp2 HG02896.hp2 HG02897.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0285 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0004g0285 a0001c0001t0011g0240 a0001c0001t0011g0241	3	294	0.0102	-45	c.159 others(62): Show c.159+1761_159+1805delCCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65576034	GAAAGAAA others(38): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0155 a0001c0001t0026g0155	1	234	0.0043	-45	c.910 others(64): Show c.910+25562_910+25606delTCTTTTCTTTTCTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar

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