Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP1_chr18_3491032_4460307	3741156	CCACCATC others(65): Show CCACCATCACCACCACATCACCACCACCACCACCACCACCACCAAATCAC CACCACCACCACCACATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02970.hp1 NA21309.hp1 HG01106.hp1 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0027 a0001c0002t0008 a0001c0001t0003 a0001c0001t0027 a0001c0002t0008	a0001c0001t0003g0059 a0001c0001t0027g0024 a0001c0002t0008g0037 a0001c0001t0003g0059 a0001c0001t0027g0024 a0001c0002t0008g0037	3	80	0.0375	-72	c.135 others(91): Show c.1350+1107_1350+1178delATGGTGATGTGGTGGTGGTGGTGGTG ATTTGGTGGTGGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(65): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	80	0.0125	-72	c.958 others(91): Show c.958-18929_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1060291	CCCCTCCC others(65): Show CCCCTCCCAAGGCGGGCTCCCTCTGGAGGCCCTGAGGGCGTTGGTCCCTC CGCTGAGTGCTTGTGGATAGATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01361.hp2 others(6): Show HG00639.hp2 HG01071.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG02071.hp1 HG02074.hp2 HG03710.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0010 others(3): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0004 a0003c0005	a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 others(6): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0003t0014 a0001c0010t0025 a0002c0001t0011 a0002c0004t0026 a0003c0005t0004	a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 others(6): Show a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0014g0020 a0001c0010t0025g0012 a0002c0001t0011g0001 a0002c0004t0026g0016 a0003c0005t0004g0037	9	40	0.2250	-72	c.73+ others(91): Show c.73+152380_73+152451delAGTGCTTGTGGATAGATACCCTCCCA AGGCGGGCTCCCTCTGGAGGCCCTGAGGGCGTTGGTCCCTCCGCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31421890	TATATATA others(65): Show TATATATATATACACACACACACACATATATATATATATATATACACACA CACATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01192.hp1 others(43): Show HG00609.hp1 HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp1 HG02683.hp2 HG02735.hp1 HG02922.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03710.hp1 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19012.hp1 NA19043.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0016 a0018 a0019 a0021 a0025 a0027 a0029 a0033 a0034 a0036	a0001c0001 a0001c0002 a0002c0012 others(26): Show a0001c0001 a0001c0002 a0002c0012 a0002c0016 a0002c0020 a0003c0003 a0003c0008 a0003c0014 a0004c0004 a0004c0011 a0004c0055 a0005c0007 a0005c0053 a0006c0006 a0006c0032 a0007c0018 a0007c0019 a0008c0010 a0010c0031 a0016c0028 a0018c0061 a0019c0033 a0021c0035 a0025c0039 a0027c0058 a0029c0044 a0033c0050 a0034c0030 a0036c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0002c0012t0002 a0002c0016t0009 a0002c0020t0028 a0002c0020t0030 a0003c0003t0002 a0003c0008t0015 a0003c0014t0001 a0003c0014t0010 a0004c0004t0001 a0004c0004t0002 a0004c0011t0001 a0004c0055t0001 a0005c0007t0002 a0005c0053t0004 a0006c0006t0001 a0006c0006t0008 a0006c0032t0003 a0007c0018t0001 a0007c0019t0001 a0008c0010t0001 a0010c0031t0001 a0016c0028t0005 a0018c0061t0001 a0019c0033t0001 a0021c0035t0001 a0025c0039t0003 a0027c0058t0019 a0029c0044t0014 a0033c0050t0001 a0034c0030t0003 a0036c0021t0017	a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0002g0024 others(43): Show a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0016g0038 a0001c0002t0001g0051 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0016t0009g0014 a0002c0020t0028g0010 a0002c0020t0030g0125 a0003c0003t0002g0043 a0003c0008t0015g0123 a0003c0014t0001g0059 a0003c0014t0010g0015 a0004c0004t0001g0087 a0004c0004t0002g0086 a0004c0011t0001g0034 a0004c0011t0001g0085 a0004c0055t0001g0007 a0005c0007t0002g0093 a0005c0053t0004g0103 a0006c0006t0001g0001 a0006c0006t0001g0047 a0006c0006t0008g0031 a0006c0032t0003g0077 a0007c0018t0001g0068 a0007c0018t0001g0099 a0007c0019t0001g0052 a0007c0019t0001g0061 a0008c0010t0001g0042 a0010c0031t0001g0096 a0016c0028t0005g0028 a0018c0061t0001g0003 a0019c0033t0001g0089 a0021c0035t0001g0106 a0025c0039t0003g0075 a0027c0058t0019g0116 a0029c0044t0014g0094 a0033c0050t0001g0119 a0034c0030t0003g0029 a0036c0021t0017g0009	46	126	0.3651	-72	c.908 others(93): Show c.9084+22519_9084+22590delGTGTATATATATATATATATGTGT GTGTGTATATATATATATATATATGTGTGTGTGTGTGTATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009707	TATATGTG others(65): Show TATATGTGTATATGTGTGTATATGTGTATATACACACATATGTGTATATG TGTGTATATGTGTATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02486.hp1 HG00280.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0026 a0003c0003t0001 a0001c0001t0026 a0003c0003t0001	a0001c0001t0026g0039 a0003c0003t0001g0050 a0001c0001t0026g0039 a0003c0003t0001g0050	2	126	0.0159	-72	c.93+ others(89): Show c.93+10360_93+10431delGTGTGTATATACACATATACACACATAT ACACATATGTGTGTATATACACATATACACACATATACACATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55155115	TGGGTCTG others(65): Show TGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGCCTGGACTTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	398	0.0050	-72	c.38 others(83): Show c.3875_*3946delTGAAGTCCAGGCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAGTCCCCAGCCCCTCCTCCCTCAGACCC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3549		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55155837	AGGGTCTG others(65): Show AGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAG GAGGGGCTGGGGACTGGACTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	398	0.0050	-72	c.31 others(83): Show c.3153_*3224delAGGAGTCCAGTCCCCAGCCCCTCCTCCCTGAGAC CCTGAAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		2827		chr19	TogoVar
DNAH6_chr2_84511498_84824589	84611138	TAACAGTG others(65): Show TAACAGTGATTGTCTAAAAGCAGAGGGAATGCATGATTTTCTTCTTCCAG TCTTCTATATTTACTACATATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp2 others(43): Show HG00099.hp1 HG00140.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01934.hp2 HG01952.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA19077.hp1 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0013 a0014 a0018 a0020 a0021	a0001c0005 a0001c0010 a0001c0022 others(16): Show a0001c0005 a0001c0010 a0001c0022 a0001c0024 a0001c0026 a0001c0028 a0002c0004 a0003c0002 a0003c0040 a0004c0007 a0004c0008 a0006c0012 a0008c0011 a0013c0025 a0013c0027 a0014c0017 a0018c0023 a0020c0041 a0021c0044	a0001c0005t0001 a0001c0010t0001 a0001c0022t0001 others(16): Show a0001c0005t0001 a0001c0010t0001 a0001c0022t0001 a0001c0024t0001 a0001c0026t0001 a0001c0028t0001 a0002c0004t0001 a0003c0002t0001 a0003c0040t0001 a0004c0007t0001 a0004c0008t0001 a0006c0012t0001 a0008c0011t0001 a0013c0025t0001 a0013c0027t0001 a0014c0017t0001 a0018c0023t0001 a0020c0041t0001 a0021c0044t0001	a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 others(43): Show a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0029 a0001c0010t0001g0020 a0001c0010t0001g0025 a0001c0010t0001g0026 a0001c0022t0001g0002 a0001c0024t0001g0030 a0001c0026t0001g0015 a0001c0028t0001g0017 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0027 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0004 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0009 a0003c0040t0001g0070 a0004c0007t0001g0106 a0004c0007t0001g0108 a0004c0007t0001g0109 a0004c0007t0001g0114 a0004c0008t0001g0110 a0004c0008t0001g0111 a0004c0008t0001g0112 a0004c0008t0001g0113 a0006c0012t0001g0021 a0006c0012t0001g0022 a0008c0011t0001g0048 a0008c0011t0001g0064 a0008c0011t0001g0072 a0013c0025t0001g0028 a0013c0027t0001g0016 a0014c0017t0001g0115 a0014c0017t0001g0116 a0018c0023t0001g0010 a0020c0041t0001g0065 a0021c0044t0001g0107	46	116	0.3966	-72	c.329 others(89): Show c.3295-535_3295-464delAACAGTGATTGTCTAAAAGCAGAGGGAA TGCATGATTTTCTTCTTCCAGTCTTCTATATTTACTACATATGC	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	21/76			chr2	TogoVar
DNAJC5_chr20_63890126_63941011	63936912	TGCGTCTC others(65): Show TGCGTCTCTCCCCATTTCCATCCTCTGCTTCCATAGCTTTAAACTCTGTC TACCACTGTCAGGTCCAGTAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	372	0.0027	-72	c.53 others(83): Show c.5345_*5416delGCGTCTCTCCCCATTTCCATCCTCTGCTTCCATA GCTTTAAACTCTGTCTACCACTGTCAGGTCCAGTAAGA	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding		902		chr20	TogoVar
DNM1L_chr12_32674301_32750650	32717356	AGTATATA others(65): Show AGTATATATAATATATATACTATATATAATATATAGTATATATAATATAT AATATATATTTTAAATATATACT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	230	0.0044	-72	c.620 others(89): Show c.620-1286_620-1215delGTATATATAATATATATACTATATATAA TATATAGTATATATAATATATAATATATATTTTAAATATATACT	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19			chr12	TogoVar
DNMT1_chr19_10128346_10199953	10182391	ATGTGTAT others(65): Show ATGTGTATATATATACATATATATGTGTATATATATGTGTGTATATATAT ACATATATATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18955.hp2 HG01934.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0356 a0001c0002t0001g0182 a0001c0001t0001g0356 a0001c0002t0001g0182	2	386	0.0052	-72	c.81- others(85): Show c.81-386_81-315delCATATATATACACATATATATGTATATATATA CACACATATATATACACATATATATGTATATATATACACA	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DOCK10_chr2_224760090_225047468	225035565	TATATATA others(65): Show TATATATATATATATATATATATAACACTGAATCAGTGTTAATTGTGTGT TGTATTAGTCAGTGCGGGCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG03225.hp1 others(2): Show HG02145.hp1 HG02647.hp1 HG03225.hp1 HG03471.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 others(2): Show a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0003t0001g0057 a0002c0003t0001g0060	5	172	0.0291	-72	c.123 others(89): Show c.123+6615_123+6686delGGCAGCCCGCACTGACTAATACAACACA CAATTAACACTGATTCAGTGTTATATATATATATATATATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK8_chr9_209865_470255	403892	CTATATAT others(65): Show CTATATATATATATATATATATATACATATATATATATGTGTATATATAT ATGTGTATATATATATATGTATA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0016 a0016	a0016c0100 a0016c0100	a0016c0100t0004 a0016c0100t0004	a0016c0100t0004g0054 a0016c0100t0004g0054	1	256	0.0039	-72	c.323 others(90): Show c.3235-1014_3235-943delATATATATATATACATATATATATATG TGTATATATATATGTGTATATATATATATGTATATATATATATAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403922	ATATATAT others(65): Show ATATATATGTGTATATATATATGTGTATATATATATATGTATATATATAT ATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0108 a0007c0108	a0007c0108t0012 a0007c0108t0012	a0007c0108t0012g0229 a0007c0108t0012g0229	1	256	0.0039	-72	c.323 others(89): Show c.3235-988_3235-917delGTGTATATATATATGTGTATATATATAT ATGTATATATATATATATGTGTATATATATATATGTGTATATAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOT1L_chr19_2158933_2237578	2200932	ATCCTCCC others(65): Show ATCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCTCATT CCTCGTCGTCCCCTCATTCCTCG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0029 a0010c0031t0029	a0010c0031t0029g0127 a0010c0031t0029g0127	1	378	0.0027	-72	c.707 others(89): Show c.707+1038_707+1109delTCATTCCTCGTCGTCCCCTCATTCCTCG TCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPH1_chr17_2025153_2048898	2035430	AGAGGGCC others(65): Show AGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGC CCTGCCTGTGGTGGGGAGGGGGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(97): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01361.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02698.hp1 HG02976.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0005g0096 a0001c0001t0005g0112 a0001c0001t0010g0022 a0002c0003t0001g0059 a0002c0003t0001g0076	100	392	0.2551	-72	c.279 others(87): Show c.279-538_279-467delAGGGCCCTGCCTGTGGTGGGGAGGTAGTGG GGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP10_chr2_114437641_115850780	115439134	AAGCACAG others(65): Show AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGA ATAGTGGCTAAGATGGTCATGGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02922.hp1 others(2): Show HG02145.hp1 HG02280.hp2 HG02922.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0003c0003t0003	a0001c0002t0001g0038 a0002c0001t0001g0020 a0002c0001t0001g0023 others(2): Show a0001c0002t0001g0038 a0002c0001t0001g0020 a0002c0001t0001g0023 a0002c0001t0002g0051 a0003c0003t0003g0001	5	56	0.0893	-72	c.272 others(91): Show c.272-60272_272-60201delATGGGAGCACAGTGTGGAATAGTGGC TAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTC	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC7_chr16_57689806_57736805	57729518	ATGGATGG others(65): Show ATGGATGGATGGATGGGTGAGTGAGTGGGTGGGTGGATGGATGAGTGGGT GGGTGGATGGATGAGTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0008 a0019c0026t0008	a0019c0026t0008g0117 a0019c0026t0008g0117	1	388	0.0026	-72	c.239 others(90): Show c.2391+986_2391+1057delGTGGATGGATGAGTGGGTGGGTGGATG GATGGATGGGTGAGTGAGTGGGTGGGTGGATGGATGAGTGGGTGG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP26_chr8_33586330_33605023	33598374	AGCAGGGT others(65): Show AGCAGGGTTGGAGTGTTTTGTCTGTGTGTGTCTTGAGGGGAGGGTGACAG AGGTGGATGGTGGGGGAATTGAC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03239.hp2 HG02735.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0123 a0001c0001t0001g0124	2	420	0.0048	-72	c.-76 others(87): Show c.-76-855_-76-784delGTCAATTCCCCCACCATCCACCTCTGTCAC CCTCCCCTCAAGACACACACAGACAAAACACTCCAACCCTGC	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137818862	GCGCCGTG others(65): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	170	0.0059	-72	c.354 others(89): Show c.3540+725_3540+796delCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819242	GCGCCGTG others(65): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	170	0.0059	-72	c.354 others(91): Show c.3540+1105_3540+1176delCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3316036	ATCACCAC others(65): Show ATCACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCC CATACACACCCCCACCACCATCC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	250	0.0040	-72	c.259 others(91): Show c.259+21909_259+21980delGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELL2_chr5_95880098_95966851	95927452	CACACACA others(65): Show CACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	314	0.0032	-72	c.196 others(89): Show c.196-7979_196-7908delATGTCTATATACACACGTGTGTGTATGT CTATATACACACGTGTGTGTATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EML5_chr14_88607431_88797953	88796281	ATATTATA others(65): Show ATATTATATGTTATATATATTATATATATATTATATGTTATATATATTAT ATATATATTATATGTTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	332	0.0030	-72	c.-38 others(83): Show c.-3850_-3779delAATATATAACATATAATATATATATAATATATAT AACATATAATATATATATAATATATATAACATATAATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3329		chr14	TogoVar
ENOSF1_chr18_665318_717630	666888	GGGAGATG others(65): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01891.hp1 HG02451.hp1 others(5): Show HG00558.hp1 HG01891.hp1 HG02451.hp1 HG02572.hp2 HG02647.hp1 HG03130.hp2 HG03579.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0004 a0001c0001t0002 a0001c0006t0004	a0001c0001t0002g0001 a0001c0001t0002g0043 a0001c0006t0004g0002 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0043 a0001c0006t0004g0002 a0001c0006t0004g0148 a0001c0006t0004g0235 a0001c0006t0004g0237	8	418	0.0191	-72	c.73 others(83): Show c.7345_*7416delATCTCCATCACCATCACCATCTCCATCACCATCA CCATCTCCATCACCATCACCATCTCCATCACCATCTCC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3429		chr18	TogoVar
ENOSF1_chr18_665318_717630	666909	TGATGGTG others(65): Show TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGAGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0006 a0001c0006t0004g0006	1	418	0.0024	-72	c.73 others(83): Show c.7324_*7395delTCCATCTCCATCACCATCTCCATCTCCATCACCA TCACCATCTCCATCACCATCACCATCTCCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3408		chr18	TogoVar
ENOSF1_chr18_665318_717630	666951	TGATGGAG others(65): Show TGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0105 a0001c0001t0034g0105	1	418	0.0024	-72	c.72 others(83): Show c.7282_*7353delTCCATCTCCATCACCATCACCATCTCCATCACCA TCACCATCTCCATCTCCATCACCATCTCCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3366		chr18	TogoVar
ENOSF1_chr18_665318_717630	666987	TGATGGTG others(65): Show TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAG ATGGTGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0178 a0002c0002t0005g0179 a0002c0002t0005g0178 a0002c0002t0005g0179	2	418	0.0048	-72	c.72 others(83): Show c.7246_*7317delTCCATCTCCATCACCATCACCATCTCCATCACCA TCTCCATCTCCATCACCATCACCATCTCCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3330		chr18	TogoVar
ENOSF1_chr18_665318_717630	712356	GTACCATG others(65): Show GTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCC GCGCTTACCATGGCGTCCGCGCT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04199.hp2 HG03654.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0342 a0001c0003t0001g0341 a0001c0001t0001g0342 a0001c0003t0001g0341	2	418	0.0048	-72	c.84+ others(84): Show c.84+76_84+147delAGCGCGGACGCCATGGTAAGCGCGGACGCCATG GTAAGCGCGGACGCCATGGTAAGCGCGGACGCCATGGTA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOX1_chr13_43208130_43791972	43226941	TGAGCAGT others(65): Show TGAGCAGTCTTAAGTAAACTACCCCAGGCAAATAAATAACAATATTTTTC ATATTTAATATTCCCCCTGGCCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	188	0.0053	-72	c.171 others(91): Show c.1715-2875_1715-2804delTGGCCAGGGGGAATATTAAATATGAA AAATATTGTTATTTATTTGCCTGGGGTAGTTTACTTAAGACTGCTC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	15/16			chr13	TogoVar
ENPP4_chr6_46124989_46151688	46143812	AATAAGAT others(65): Show AATAAGATAACGCTGACCATAGTAAAATTGTTAGTAAATCATTAGGTAAC ATCTTGTGGTAGGAAATCATTAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0006 a0002c0002t0022g0006	1	426	0.0024	-72	c.17 others(81): Show c.173_*244delATAAGATAACGCTGACCATAGTAAAATTGTTAGTAA ATCATTAGGTAACATCTTGTGGTAGGAAATCATTAG	ENPP4	ENSG00000001561.7	transcript	ENST00000321037.5	protein_coding	4/4	173		chr6	TogoVar
ENTPD8_chr9_137429364_137446357	137440009	CCCCCCCC others(65): Show CCCCCCCCAGACCAGGAGAGCCCCCCAGACCAGGACACCCCCTCAGACAG AACAGTCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0044 a0001c0001t0001g0160 a0001c0001t0008g0045 a0001c0001t0001g0044 a0001c0001t0001g0160 a0001c0001t0008g0045	5	392	0.0128	-72	c.-21 others(89): Show c.-21+1205_-21+1276delCTGTCCTGGTCTGGGGGACTGTTCTGTC TGAGGGGGTGTCCTGGTCTGGGGGGCTCTCCTGGTCTGGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440523	CCCCCAGA others(65): Show CCCCCAGACCAGGACAGCCCCCCCCAGACCAGGAGAGCCCCCCAGACCAG GACACCCCCTCAGACAGAACAGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	392	0.0026	-72	c.-21 others(87): Show c.-21+691_-21+762delACTGTTCTGTCTGAGGGGGTGTCCTGGTCT GGGGGGCTCTCCTGGTCTGGGGGGGGCTGTCCTGGTCTGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
EPS8L2_chr11_701231_732727	712377	GGTCCAAG others(65): Show GGTCCAAGCCTGGGTGCGAGCTGGGCTCCCGGTTGTCGTCCAAGCCTGGG TGCGAGCTGGGCTCCCGGTTGTC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp2 HG02698.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0025 a0001c0001t0016 a0001c0001t0025	a0001c0001t0016g0243 a0001c0001t0025g0087 a0001c0001t0016g0243 a0001c0001t0025g0087	2	406	0.0049	-72	c.165 others(89): Show c.165+1954_165+2025delCCCGGTTGTCGTCCAAGCCTGGGTGCGA GCTGGGCTCCCGGTTGTCGTCCAAGCCTGGGTGCGAGCTGGGCT	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERFL_chr19_41902704_41933449	41914816	CCGTGTCT others(65): Show CCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTCCACCAT CTCTGTCTCTCCCTCCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	330	0.0030	-72	c.-13 others(89): Show c.-13-1956_-13-1885delATGGAGGGGAGGGAGAGACAGAGATGGT GGAGGGGGGGAGAGACAGAGACGGTGGAAAGGGGGGGAGACACG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC3_chr20_35537078_35562634	35539213	TATATATA others(65): Show TATATATATAACAGTTTATATATATAATATATATAACAGTTTATATATAT ATATATAACAGTTTATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG00738.hp2 others(64): Show HG00140.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02630.hp1 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18969.hp2 NA18978.hp1 NA18979.hp2 NA18988.hp1 NA19000.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19072.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0218 a0001c0005t0001g0197	67	364	0.1841	-72	c.-28 others(83): Show c.-2884_-2813delATATATATAACAGTTTATATATATAATATATATA ACAGTTTATATATATATATATAACAGTTTATATATATA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2864		chr20	TogoVar
ERICH1_chr8_659200_736224	700067	TCACAGGC others(65): Show TCACAGGCGCACAGACCCGCACACGCGCACAGACCCGCACACGCGCACAC ACCCTCACAGGCGCACAGACCCG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0363 a0001c0001t0002g0363	1	378	0.0027	-72	c.170 others(89): Show c.170-7527_170-7456delCGGGTCTGTGCGCCTGTGAGGGTGTGTG CGCGTGTGCGGGTCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073444	ATATATAT others(65): Show ATATATATATATATATGTATATATATATATATATATATATATGTATATAT ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	442	0.0023	-72	c.58+ others(87): Show c.58+8733_58+8804delGTATATATATATATATATATATATATGTAT ATATATATATATATATATATATATATGTATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EYS_chr6_63714980_65712226	65317813	CCTTCCTT others(65): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0010 a0010	a0010c0003 a0010c0003	a0010c0003t0001 a0010c0003t0001	a0010c0003t0001g0016 a0010c0003t0001g0016	1	24	0.0417	-72	c.176 others(93): Show c.1766+17095_1766+17166delAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803534	TATATATA others(65): Show TATATATATATGTATATATATATATATATATATATATATATATATATACA TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	312	0.0032	-72	c.13- others(89): Show c.13-14235_13-14164delGTATATATATATATATATATATATGTAT ATATATATATATATATATATATATATATATATACATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
EZR_chr6_158760748_158824368	158803564	TATATATA others(65): Show TATATATATATATATATACATATATATATATATATATATATACATATATA TATATATATATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp2 NA19064.hp2 HG00099.hp2 HG02451.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0011g0298 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0011g0298	3	312	0.0096	-72	c.13- others(89): Show c.13-14265_13-14194delGTATGTATATGTATATATATATATATAT ATGTATATATATATATATATATATATGTATATATATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAF1_chr1_50432028_50965267	50819706	TATATATA others(65): Show TATATATATACGTATATATATATACATATATATACATATATATATACATA TATATATACGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	190	0.0053	-72	c.115 others(91): Show c.115-18101_115-18030delGTATATATATATACGTATATATATAT GTATATATATATGTATATATATGTATATATATATACGTATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAM174B_chr15_92612448_92660775	92631197	ATATTACA others(65): Show ATATTACATATATTATATATTATATTATATATAATATATTATATATTATA TTATATATAATATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	394	0.0025	-72	c.345 others(87): Show c.345-924_345-853delAATATATAATATATTATATATAATATAATA TATAATATATTATATATAATATAATATATAATATATGTAATA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM174B_chr15_92612448_92660775	92631299	TATAATAT others(65): Show TATAATATATTATATATAATATTATATATAATATATTATATATTATATAT AATATATTATATATTATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	394	0.0025	-72	c.345 others(88): Show c.345-1026_345-955delTATAATATAATATATAATATATTATATAT AATATATAATATATTATATATAATATTATATATAATATATTAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM47C_chrX_37003366_37016664	37006708	GAGGAGCC others(65): Show GAGGAGCCACAGGGAAGAGAGGCATTGATCATGCCTTATTTACAAGGAGG AACTAGGGTATACCTGCTAGTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	308	0.0033	-72	c.-17 others(83): Show c.-1702_-1631delAGGAGCCACAGGGAAGAGAGGCATTGATCATGCC TTATTTACAAGGAGGAACTAGGGTATACCTGCTAGTAA	FAM47C	ENSG00000198173.5	transcript	ENST00000358047.5	protein_coding		1657		chrX	TogoVar
FAN1_chr15_30898915_30948108	30929792	AATATAAT others(65): Show AATATAATATATAAAATATATAATATATTATATCATATATAATATAATAT ATAAAATATATATCATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03942.hp1 HG00140.hp2 HG03942.hp1	a0001 a0007 a0001 a0007	a0001c0014 a0007c0013 a0001c0014 a0007c0013	a0001c0014t0002 a0007c0013t0002 a0001c0014t0002 a0007c0013t0002	a0001c0014t0002g0193 a0007c0013t0002g0192 a0001c0014t0002g0193 a0007c0013t0002g0192	2	303	0.0066	-72	c.278 others(89): Show c.2787+401_2787+472delATATATAAAATATATAATATATTATATC ATATATAATATAATATATAAAATATATATCATATATAATATATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FGD6_chr12_95071749_95222467	95148769	ACATATAT others(65): Show ACATATATTATATATTATATAATACATAGCATATGTTATATTACATATAT TATATATATTATATAATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02055.hp2 others(13): Show HG00735.hp2 HG01243.hp2 HG02055.hp2 HG02280.hp1 HG02622.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG04184.hp1 NA18945.hp2 NA18960.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0011 a0002c0019	a0001c0001t0005 a0002c0002t0003 a0002c0005t0005 others(4): Show a0001c0001t0005 a0002c0002t0003 a0002c0005t0005 a0002c0005t0008 a0002c0005t0037 a0002c0011t0017 a0002c0019t0068	a0001c0001t0005g0194 a0002c0002t0003g0239 a0002c0002t0003g0245 others(13): Show a0001c0001t0005g0194 a0002c0002t0003g0239 a0002c0002t0003g0245 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0271 a0002c0005t0005g0254 a0002c0005t0008g0253 a0002c0005t0008g0256 a0002c0005t0008g0257 a0002c0005t0008g0258 a0002c0005t0037g0364 a0002c0011t0017g0192 a0002c0011t0017g0249 a0002c0011t0017g0250 a0002c0019t0068g0313	16	384	0.0417	-72	c.268 others(91): Show c.2685+3970_2685+4041delCTATATATTATATAATATATATAATA TATGTAATATAACATATGCTATGTATTATATAATATATAATATATG	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95149199	ATAATATT others(65): Show ATAATATTATATATTATATAATATATAGCATATATATTATATAATATATA GCATATATATTATATATTATATT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03041.hp2 HG02683.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0061 a0001c0001t0005 a0001c0001t0061	a0001c0001t0005g0297 a0001c0001t0061g0305 a0001c0001t0005g0297 a0001c0001t0061g0305	2	384	0.0052	-72	c.268 others(91): Show c.2685+3540_2685+3611delAATATAATATATAATATATATGCTAT ATATTATATAATATATATGCTATATATTATATAATATATAATATTA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGF21_chr19_48750524_48763330	48761254	CAGAGAGA others(65): Show CAGAGAGAGGGAGACAGAGACCCAGAGAGAGAGGGCAACAGAGACCCAGA GAGAGAGGGGGACAGAGACCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	456	0.0022	-72	c.30 others(83): Show c.3035_*3106delAGAGAGAGGGAGACAGAGACCCAGAGAGAGAGGG CAACAGAGACCCAGAGAGAGAGGGGGACAGAGACCCAG	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		2925		chr19	TogoVar
FGF3_chr11_69804968_69824416	69813576	ATGGATGG others(65): Show ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGGTGGATGGAT GGATGGATGGATGGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	422	0.0024	-72	c.324 others(89): Show c.324+2672_324+2743delCCCATCCACCCATCCATCCATCCATCCA TCCACCCATCCATCCATCCATCCACCCACCCATCTATCCATCCA	FGF3	ENSG00000186895.4	transcript	ENST00000334134.4	protein_coding	2/2			chr11	TogoVar

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