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	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
UBR2_chr6_42559029_42698505	42571101	AAAGCATC others(29): Show AAAGCATCCATGCTAGCCTGTAGTCCCAGCTACTTGG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	340	0.0029	-36	c.79- others(51): Show c.79-2632_79-2597delAAGCATCCATGCTAGCCTGTAGTCCCAGCT ACTTGG		UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	1/46						chr6	TogoVar
UBR4_chr1_19069510_19215266	19143247	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19012.hp2 NA19054.hp2 NA19004.hp1 NA19012.hp2 NA19054.hp2	a0001 a0030 a0001 a0030	a0001c0001 a0001c0026 a0030c0028 a0001c0001 a0001c0026 a0030c0028	a0001c0001t0001 a0001c0026t0001 a0030c0028t0001 a0001c0001t0001 a0001c0026t0001 a0030c0028t0001	a0001c0001t0001g0160 a0001c0026t0001g0257 a0030c0028t0001g0225 a0001c0001t0001g0160 a0001c0026t0001g0257 a0030c0028t0001g0225	3	319	0.0094	-36	c.817 others(53): Show c.8179+697_8179+732delTCTTTCTTTCTTTCTTTCTTTCTTCCTT CCTTCCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
UBR4_chr1_19069510_19215266	19143251	GAAGGAAG others(29): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG02083.hp1 others(1): Show HG00323.hp1 HG00639.hp1 HG02083.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0239 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0239 a0001c0001t0001g0240	4	258	0.0155	-36	c.817 others(53): Show c.8179+693_8179+728delTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTTCCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
UBR4_chr1_19069510_19215266	19143259	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01167.hp1 others(27): Show HG00741.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 NA18522.hp2 NA19043.hp1 NA20752.hp2	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0016 a0018	a0001c0001 a0004c0004 a0004c0022 others(3): Show a0001c0001 a0004c0004 a0004c0022 a0009c0014 a0016c0036 a0018c0025	a0001c0001t0001 a0004c0004t0001 a0004c0022t0001 others(3): Show a0001c0001t0001 a0004c0004t0001 a0004c0022t0001 a0009c0014t0002 a0016c0036t0001 a0018c0025t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 others(26): Show a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0303 a0004c0004t0001g0004 a0004c0004t0001g0123 a0004c0004t0001g0124 a0004c0004t0001g0125 a0004c0004t0001g0126 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0022t0001g0139 a0004c0022t0001g0140 a0009c0014t0002g0006 a0009c0014t0002g0007 a0016c0036t0001g0290 a0018c0025t0001g0296	30	214	0.1402	-36	c.817 others(53): Show c.8179+685_8179+720delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105						chr1	TogoVar
UBXN11_chr1_26277282_26311636	26282338	GCCGGGAC others(29): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01891.hp2 HG02257.hp1 others(6): Show HG00639.hp2 HG01891.hp2 HG02257.hp1 HG02615.hp2 HG02723.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0005 a0007 a0005 a0007	a0005c0006 a0007c0011 a0005c0006 a0007c0011	a0005c0006t0001 a0007c0011t0001 a0005c0006t0001 a0007c0011t0001	a0005c0006t0001g0016 a0005c0006t0001g0116 a0005c0006t0001g0117 others(4): Show a0005c0006t0001g0016 a0005c0006t0001g0116 a0005c0006t0001g0117 a0005c0006t0001g0118 a0005c0006t0001g0119 a0007c0011t0001g0054 a0007c0011t0001g0055	9	366	0.0246	-36	c.148 others(45): Show c.1488_1523delTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	p.Pro others(13): Show p.Pro497_Gly508del	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1603/1660	1488/1563	496/520			chr1	TogoVar
UCN3_chr10_5359966_5379692	5361396	TCAGGCAA others(29): Show TCAGGCAAAGCAAACTTTATGAGAAGTATTATTTAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	466	0.0021	-36	c.-38 others(47): Show c.-3840_-3805delCAGGCAAAGCAAACTTTATGAGAAGTATTATTTA GG		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding					3569		chr10	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	151	0.0066	-36	c.99- others(51): Show c.99-2683_99-2648delATATATATATATATATATATATATATATAT ATATAT		UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02109.hp1 others(8): Show HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG03130.hp1 NA18979.hp2 NA18991.hp1 NA19004.hp2 NA19007.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0105 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0001g0255 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0003t0001g0015	11	14	0.7857	-36	c.149 others(55): Show c.1497+1347_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176984299	CCCCGTCT others(29): Show CCCCGTCTGGGAAATGGGGAGTGCCTCTGCCCGGCCG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0327 a0003c0004t0004g0327	1	328	0.0030	-36	c.-8- others(51): Show c.-8-1712_-8-1677delCGGCCGGGCAGAGGCACTCCCCATTTCCCA GACGGG		UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14						chr5	TogoVar
UMODL1_chr21_42066317_42147996	42131417	GGCCATGA others(29): Show GGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01123.hp2 others(6): Show HG00741.hp2 HG01074.hp1 HG01123.hp2 HG01496.hp1 HG01981.hp2 HG02071.hp1 NA18951.hp2 NA18975.hp1 NA19011.hp2	a0001 a0017 a0063 a0001 a0017 a0063	a0001c0020 a0017c0011 a0063c0093 a0001c0020 a0017c0011 a0063c0093	a0001c0020t0001 a0017c0011t0002 a0017c0011t0015 others(1): Show a0001c0020t0001 a0017c0011t0002 a0017c0011t0015 a0063c0093t0001	a0001c0020t0001g0029 a0001c0020t0001g0056 a0001c0020t0001g0059 others(6): Show a0001c0020t0001g0029 a0001c0020t0001g0056 a0001c0020t0001g0059 a0001c0020t0001g0069 a0017c0011t0002g0245 a0017c0011t0002g0246 a0017c0011t0002g0264 a0017c0011t0015g0342 a0063c0093t0001g0289	9	398	0.0226	-36	c.377 others(55): Show c.3775+1692_3775+1727delAGCCATGAAGCTGGGGAACAGGAGGA GGGAGGTCTC		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35328634	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG02055.hp1 others(8): Show HG00099.hp1 HG00140.hp2 HG02055.hp1 HG02717.hp1 HG02976.hp2 HG03139.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 NA19043.hp2	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0032	a0003c0002 a0005c0006 a0007c0009 others(1): Show a0003c0002 a0005c0006 a0007c0009 a0032c0027	a0003c0002t0001 a0005c0006t0001 a0007c0009t0001 others(1): Show a0003c0002t0001 a0005c0006t0001 a0007c0009t0001 a0032c0027t0001	a0003c0002t0001g0060 a0003c0002t0001g0119 a0003c0002t0001g0147 others(8): Show a0003c0002t0001g0060 a0003c0002t0001g0119 a0003c0002t0001g0147 a0003c0002t0001g0149 a0003c0002t0001g0180 a0005c0006t0001g0156 a0005c0006t0001g0158 a0007c0009t0001g0185 a0007c0009t0001g0188 a0007c0009t0001g0189 a0032c0027t0001g0222	11	222	0.0495	-36	c.941 others(57): Show c.9414+14656_9414+14691delTTCCTTCCTTCCTTCCTTCCTCCC TCCCTTCCTTCC		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54510480	TTCAGCTA others(29): Show TTCAGCTAATTAAAACAGAATCTTTGGGGGATACATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02109.hp1 others(9): Show HG01243.hp1 HG01255.hp2 HG02109.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0039 a0001c0001 a0001c0002 a0010c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0025 a0001c0002t0001 a0010c0039t0001	a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0102 others(9): Show a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0011g0077 a0001c0001t0018g0033 a0001c0001t0025g0003 a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0010c0039t0001g0037	12	156	0.0769	-36	c.538 others(55): Show c.5380-1268_5380-1233delCTAATTAAAACAGAATCTTTGGGGGA TACATCTCAG		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	23/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805961	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	260	0.0038	-36	c.-47 others(47): Show c.-4789_-4754delGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGA AG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding					4597		chr5	TogoVar
UNC5D_chr8_35230475_35801540	35756558	AAAAAAAA others(29): Show AAAAAAAAAAGAAAAAAAGAAAGTCAAGCATAGTAGT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0048 a0001c0003t0005g0048	1	64	0.0156	-36	c.216 others(55): Show c.2164-2759_2164-2724delAAAAAAAGAAAAAAAGAAAGTCAAGC ATAGTAGTAA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC80_chr2_209766832_210004296	209844472	TTTCTTTC others(29): Show TTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	152	0.0066	-36	c.345 others(55): Show c.3454+2030_3454+2065delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167295465	CTCCTCGC others(29): Show CTCCTCGCCTCCCTCGTGAACCTCGCCTCCCTCGTGA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp1 HG03831.hp2 HG02698.hp1 HG03017.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0030 a0001c0001 a0003c0003 a0003c0030	a0001c0001t0001 a0003c0003t0006 a0003c0030t0006 a0001c0001t0001 a0003c0003t0006 a0003c0030t0006	a0001c0001t0001g0210 a0003c0003t0006g0339 a0003c0030t0006g0346 a0001c0001t0001g0210 a0003c0003t0006g0339 a0003c0030t0006g0346	3	358	0.0084	-36	c.270 others(51): Show c.270-557_270-522delCCCTCGTGAACCTCGCCTCCCTCGTGATCC TCGCCT		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295501	ATCCTCGC others(29): Show ATCCTCGCCTGCCTCGTGCTCCTCGCCTGCCTCGTGC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0225 a0001c0036t0001g0225	1	308	0.0032	-36	c.270 others(51): Show c.270-521_270-486delGCCTCGTGCTCCTCGCCTGCCTCGTGCTCC TCGCCT		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295627	CTCCTCGC others(29): Show CTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG02896.hp1 others(1): Show HG02280.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0004c0019 a0009c0012 a0004c0004 a0004c0019 a0009c0012	a0004c0004t0003 a0004c0019t0001 a0009c0012t0003 a0004c0004t0003 a0004c0019t0001 a0009c0012t0003	a0004c0004t0003g0130 a0004c0019t0001g0129 a0004c0019t0001g0131 others(1): Show a0004c0004t0003g0130 a0004c0019t0001g0129 a0004c0019t0001g0131 a0009c0012t0003g0312	4	405	0.0099	-36	c.270 others(51): Show c.270-377_270-342delCCCTCGTGATCCTCGCCTGCCTCGTGCTCC TCGCCT		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295655	CCCTCGTG others(29): Show CCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02135.hp1 HG02155.hp1 others(1): Show HG00597.hp2 HG02135.hp1 HG02155.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 a0002c0002t0005g0331	4	402	0.0100	-36	c.270 others(51): Show c.270-369_270-334delATCCTCGCCTGCCTCGTGCTCCTCGCCTGC CTCGTG		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295691	GCCTCGTG others(29): Show GCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(80): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01099.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19075.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0011 a0012 a0014	a0001c0001 a0001c0013 a0001c0023 others(10): Show a0001c0001 a0001c0013 a0001c0023 a0002c0002 a0003c0003 a0005c0010 a0005c0016 a0006c0005 a0007c0006 a0009c0012 a0011c0040 a0012c0015 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0013t0001 a0001c0023t0001 a0002c0002t0004 a0002c0002t0005 a0003c0003t0003 a0003c0003t0006 a0005c0010t0001 a0005c0010t0004 a0005c0010t0005 a0005c0016t0004 a0006c0005t0006 a0006c0005t0009 a0007c0006t0002 a0009c0012t0003 a0011c0040t0003 a0012c0015t0001 a0014c0021t0004	a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0048 others(70): Show a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0257 a0001c0001t0002g0273 a0001c0001t0002g0283 a0001c0001t0004g0064 a0001c0001t0004g0256 a0001c0001t0004g0329 a0001c0013t0001g0319 a0001c0013t0001g0320 a0001c0023t0001g0004 a0002c0002t0004g0015 a0002c0002t0004g0016 a0002c0002t0004g0205 a0002c0002t0004g0206 a0002c0002t0004g0230 a0002c0002t0004g0262 a0002c0002t0004g0264 a0002c0002t0004g0265 a0002c0002t0004g0266 a0002c0002t0005g0233 a0002c0002t0005g0275 a0002c0002t0005g0282 a0003c0003t0003g0207 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0237 a0003c0003t0003g0249 a0003c0003t0006g0238 a0003c0003t0006g0274 a0005c0010t0001g0047 a0005c0010t0004g0047 a0005c0010t0004g0235 a0005c0010t0004g0246 a0005c0010t0004g0253 a0005c0010t0004g0267 a0005c0010t0004g0276 a0005c0010t0004g0317 a0005c0010t0005g0254 a0005c0016t0004g0271 a0006c0005t0006g0252 a0006c0005t0006g0268 a0006c0005t0006g0272 a0006c0005t0009g0247 a0007c0006t0002g0045 a0009c0012t0003g0251 a0011c0040t0003g0260 a0012c0015t0001g0004 a0014c0021t0004g0239 a0014c0021t0004g0240	83	361	0.2299	-36	c.270 others(51): Show c.270-309_270-274delGCCTTCCTCGTGCTCCTCGCCTCCCTCGTG CTCCTC		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNKL_chr16_1358205_1419704	1413117	AGCCTGTA others(29): Show AGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0295	1	320	0.0031	-36	c.287 others(51): Show c.287+693_287+728delCCCTTCTCAGCCTCCCAAGTAGCTGGGACT ACAGGC		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	2/14						chr16	TogoVar
URAD_chr13_27972717_27993693	27991154	TGTATATG others(29): Show TGTATATGTATAGGTGTAGGTGTAGGTATATGTATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA18950.hp2 NA18995.hp1 others(1): Show HG02083.hp2 NA18950.hp2 NA18995.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027	4	419	0.0095	-36	c.-25 others(47): Show c.-2553_-2518delCTATACATATACCTACACCTACACCTATACATAT AC		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2462		chr13	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG02622.hp2 others(2): Show HG01255.hp1 HG01891.hp2 HG02622.hp2 HG02647.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0015 a0002c0002t0001 a0001c0001t0001 a0001c0001t0015 a0002c0002t0001	a0001c0001t0001g0076 a0001c0001t0015g0007 a0002c0002t0001g0008 others(2): Show a0001c0001t0001g0076 a0001c0001t0015g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010	5	42	0.1190	-36	c.117 others(53): Show c.117+1494_117+1529delTATATATATATATATATATATATATATA TATATATA		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
USF2_chr19_35263962_35284821	35271413	TTCACACT others(29): Show TTCACACTCCCATACGGATTGCCTGCCCCACTTGAAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	424	0.0024	-36	c.727 others(51): Show c.727+273_727+308delTCACACTCCCATACGGATTGCCTGCCCCAC TTGAAA		USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding	7/9						chr19	TogoVar
USF2_chr19_35263962_35284821	35278914	GCCCTAAG others(29): Show GCCCTAAGGCTCCTGGTCCCCTCGCCCCCCAGAGTAA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0108 a0002c0003t0003g0108	1	424	0.0024	-36	c.823 others(46): Show c.823-31_827delCCCTAAGGCTCCTGGTCCCCTCGCCCCCCAGAGTA A	p.Ser others(5): Show p.Ser275fs	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding	9/10		823/1041	275/346			chr19	TogoVar
USH2A_chr1_215617891_216428448	216377779	AAAAGAAA others(29): Show AAAAGAAAGAAAGAGAAGGAAAGAAATAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20129.hp2 NA19043.hp1 NA20129.hp2	a0062 a0067 a0062 a0067	a0062c0042 a0067c0024 a0062c0042 a0067c0024	a0062c0042t0001 a0067c0024t0005 a0062c0042t0001 a0067c0024t0005	a0062c0042t0001g0031 a0067c0024t0005g0040 a0062c0042t0001g0031 a0067c0024t0005g0040	2	49	0.0408	-36	c.652 others(55): Show c.652-12730_652-12695delCTTTCTTTTTATTTCTTTCCTTCTCT TTCTTTCTTT		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71						chr1	TogoVar
USP13_chr3_179648040_179794401	179750302	GTGTATAT others(29): Show GTGTATATATATATATATATGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0192 a0001c0001t0017g0192	1	284	0.0035	-36	c.171 others(55): Show c.1710-1981_1710-1946delGTATATATATATATATATGTGTGTAT ATATATATAT		USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
USP17L27_chr4_9339148_9350740	9347897	CAAGTTTT others(29): Show CAAGTTTTTTGTTTCGTGTTTTCTTAAACTGCCGTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0001 a0003c0057t0001	a0003c0057t0001g0000 a0003c0057t0001g0000	1	90	0.0111	-36	c.21 others(47): Show c.2158_*2193delAAGTTTTTTGTTTCGTGTTTTCTTAAACTGCCGT CG		USP17L27	ENSG00000235780.3	transcript	ENST00000515574.1	protein_coding					2158		chr4	TogoVar
USP3_chr15_63499593_63599633	63547725	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0143 a0001c0001t0023g0143	1	232	0.0043	-36	c.285 others(53): Show c.285-5970_285-5935delGGAGGGAGGGAGGGAGGGAGAGAGAGAG AGAGAGAG		USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP3_chr15_63499593_63599633	63581345	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	37	0.0270	-36	c.109 others(55): Show c.1097-6940_1097-6905delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT		USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP40_chr2_233470526_233571782	233494920	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	298	0.0034	-36	c.279 others(55): Show c.2791-1405_2791-1370delAATATATATATATATATATATATATA TATATATATA		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31						chr2	TogoVar
USP50_chr15_50495562_50551666	50509798	ATAGACAA others(29): Show ATAGACAAATATCTGGAGAATAAGTTACCAAAATGAC	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	382	0.0026	-36	c.937 others(53): Show c.937-8997_937-8962delGTCATTTTGGTAACTTATTCTCCAGATA TTTGTCTA		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6						chr15	TogoVar
USP8_chr15_50419405_50519421	50509798	ATAGACAA others(29): Show ATAGACAAATATCTGGAGAATAAGTTACCAAAATGAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0151 a0002c0003t0151	a0002c0003t0151g0090 a0002c0003t0151g0090	1	380	0.0026	-36	c.10 others(49): Show c.10712_*10747delAGACAAATATCTGGAGAATAAGTTACCAAAAT GACT		USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	20/20				10712	INFO_REALIGN_3_PRIME	chr15	TogoVar
VASP_chr19_45502479_45531983	45529980	TGCCAAAG others(29): Show TGCCAAAGCCTCCCAAAGTGCTGGGACTGCAGGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	404	0.0025	-36	c.38 others(47): Show c.3804_*3839delGCCAAAGCCTCCCAAAGTGCTGGGACTGCAGGTG TG		VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding					2998		chr19	TogoVar
VCL_chr10_73993116_74125169	74123656	CCTACATT others(29): Show CCTACATTGATAACTAAGTAACTTTGTTAGCGGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0220 a0001c0008t0001g0220	1	262	0.0038	-36	c.54 others(47): Show c.5488_*5523delCTACATTGATAACTAAGTAACTTTGTTAGCGGTG TG		VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding					3488		chr10	TogoVar
VCX3A_chrX_6528618_6540118	6533489	ACACCACC others(29): Show ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02300.hp2 others(8): Show HG01074.hp1 HG01884.hp2 HG02300.hp2 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG04199.hp1 NA18522.hp1	a0001 a0002 a0010 others(2): Show a0001 a0002 a0010 a0013 a0014	a0001c0001 a0002c0003 a0010c0025 others(2): Show a0001c0001 a0002c0003 a0010c0025 a0013c0017 a0014c0029	a0001c0001t0004 a0001c0001t0007 a0002c0003t0004 others(3): Show a0001c0001t0004 a0001c0001t0007 a0002c0003t0004 a0010c0025t0004 a0013c0017t0004 a0014c0029t0004	a0001c0001t0004g0004 a0001c0001t0007g0024 a0002c0003t0004g0009 others(4): Show a0001c0001t0004g0004 a0001c0001t0007g0024 a0002c0003t0004g0009 a0002c0003t0004g0010 a0010c0025t0004g0027 a0013c0017t0004g0028 a0014c0029t0004g0029	11	70	0.1571	-36	c.22 others(45): Show c.220_*255delGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					128		chrX	TogoVar
VDR_chr12_47836537_47909994	47859840	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19063.hp1 NA18983.hp2 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0013 a0002c0002t0005g0136 a0002c0002t0005g0013 a0002c0002t0005g0136	2	346	0.0058	-36	c.278 others(53): Show c.278-2188_278-2153delAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGG		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VEGFC_chr4_176678538_176797922	176797807	CTTTAGTT others(29): Show CTTTAGTTTGGGGAGCCAAGGGCATGAGGTACACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	222	0.0045	-36	c.-55 others(47): Show c.-5532_-5497delTTTGTGTACCTCATGCCCTTGGCTCCCCAAACTA AA		VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding					4886		chr4	TogoVar
VEPH1_chr3_157254742_157508416	157272240	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(72): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp1 HG02300.hp2 HG02970.hp1 HG03239.hp1 HG03490.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04228.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18966.hp1 NA18972.hp2 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0013 a0014 a0016	a0001c0010 a0002c0003 a0003c0002 others(5): Show a0001c0010 a0002c0003 a0003c0002 a0003c0015 a0004c0012 a0013c0017 a0014c0022 a0016c0026	a0001c0010t0002 a0002c0003t0002 a0003c0002t0001 others(6): Show a0001c0010t0002 a0002c0003t0002 a0003c0002t0001 a0003c0002t0005 a0003c0015t0002 a0004c0012t0002 a0013c0017t0002 a0014c0022t0002 a0016c0026t0002	a0001c0010t0002g0111 a0001c0010t0002g0153 a0001c0010t0002g0205 others(72): Show a0001c0010t0002g0111 a0001c0010t0002g0153 a0001c0010t0002g0205 a0001c0010t0002g0206 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0029 a0002c0003t0002g0031 a0002c0003t0002g0033 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0100 a0002c0003t0002g0101 a0002c0003t0002g0120 a0002c0003t0002g0126 a0002c0003t0002g0135 a0002c0003t0002g0139 a0002c0003t0002g0146 a0002c0003t0002g0151 a0002c0003t0002g0155 a0002c0003t0002g0173 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0188 a0002c0003t0002g0197 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0218 a0002c0003t0002g0233 a0002c0003t0002g0239 a0002c0003t0002g0249 a0002c0003t0002g0255 a0002c0003t0002g0258 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0289 a0002c0003t0002g0292 a0002c0003t0002g0294 a0002c0003t0002g0295 a0003c0002t0001g0288 a0003c0002t0005g0052 a0003c0002t0005g0065 a0003c0002t0005g0068 a0003c0002t0005g0069 a0003c0002t0005g0134 a0003c0002t0005g0230 a0003c0002t0005g0240 a0003c0015t0002g0028 a0003c0015t0002g0217 a0004c0012t0002g0140 a0004c0012t0002g0181 a0004c0012t0002g0291 a0013c0017t0002g0014 a0014c0022t0002g0163 a0016c0026t0002g0074	75	99	0.7576	-36	c.212 others(55): Show c.2129-6614_2129-6579delGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG		VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	12/13						chr3	TogoVar
VEPH1_chr3_157254742_157508416	157378306	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02040.hp2 HG02056.hp1 others(7): Show HG00423.hp1 HG02040.hp2 HG02056.hp1 HG02155.hp1 NA18939.hp2 NA18966.hp1 NA19002.hp2 NA19012.hp1 NA19079.hp2 NA19087.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0003c0015 a0004c0012 a0003c0002 a0003c0015 a0004c0012	a0003c0002t0001 a0003c0002t0005 a0003c0015t0002 others(1): Show a0003c0002t0001 a0003c0002t0005 a0003c0015t0002 a0004c0012t0002	a0003c0002t0001g0288 a0003c0002t0005g0052 a0003c0002t0005g0065 others(7): Show a0003c0002t0001g0288 a0003c0002t0005g0052 a0003c0002t0005g0065 a0003c0002t0005g0068 a0003c0002t0005g0069 a0003c0002t0005g0134 a0003c0002t0005g0230 a0003c0002t0005g0240 a0003c0015t0002g0028 a0004c0012t0002g0291	10	15	0.6667	-36	c.112 others(55): Show c.1127+2814_1127+2849delTATATATATATATATATATATATATA TATATATATA		VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	7/13						chr3	TogoVar
VGLL3_chr3_86932973_86996149	86966771	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01257.hp1 others(8): Show HG00408.hp2 HG00438.hp2 HG01257.hp1 HG01346.hp2 HG02015.hp2 HG04204.hp2 NA18972.hp2 NA18994.hp2 NA18995.hp2 NA19057.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0026 a0001c0001t0058	a0001c0001t0001g0251 a0001c0001t0008g0189 a0001c0001t0008g0218 others(8): Show a0001c0001t0001g0251 a0001c0001t0008g0189 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0280 a0001c0001t0026g0023 a0001c0001t0058g0349	11	287	0.0383	-36	c.937 others(53): Show c.937+1783_937+1818delTATATATATATATATATATATATATATA TATATACA		VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	3/3						chr3	TogoVar
VGLL3_chr3_86932973_86996149	86966773	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	142	0.0070	-36	c.937 others(53): Show c.937+1781_937+1816delTATATATATATATATATATATATATATA TATATATA		VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	3/3						chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573280	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01081.hp2 others(7): Show HG00140.hp1 HG00621.hp2 HG01081.hp2 HG01255.hp1 HG02965.hp2 HG03710.hp2 HG04199.hp1 NA18950.hp2 NA18970.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0011t0002 a0002c0003t0001	a0001c0001t0001g0085 a0001c0001t0001g0155 a0001c0001t0002g0324 others(7): Show a0001c0001t0001g0085 a0001c0001t0001g0155 a0001c0001t0002g0324 a0001c0001t0004g0380 a0001c0002t0002g0239 a0001c0011t0002g0347 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0069 a0002c0003t0001g0075	10	386	0.0259	-36	c.273 others(53): Show c.273-8297_273-8262delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4						chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573308	GAAGGAAG others(29): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00544.hp1 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0003 a0001c0002t0002g0221 a0001c0001t0002g0003 a0001c0002t0002g0221	2	357	0.0056	-36	c.273 others(53): Show c.273-8325_273-8290delTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTTCCTT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4						chr3	TogoVar
VIL1_chr2_218414123_218458295	218415943	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp2 HG02523.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0142 a0001c0001t0015g0137 a0001c0001t0001g0142 a0001c0001t0015g0137	2	324	0.0062	-36	c.-32 others(47): Show c.-3236_-3201delTCTCTCTCTCTCTCTCTCTCTATATATATATATA TA		VIL1	ENSG00000127831.11	transcript	ENST00000248444.10	protein_coding					3179		chr2	TogoVar
VIRMA_chr8_94482689_94558469	94550176	TAAGCATT others(29): Show TAAGCATTCAATAAATGTTAAACAATGCTTACTGCCC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0295 a0001c0007t0001g0295	1	344	0.0029	-36	c.63+ others(51): Show c.63+3173_63+3208delGGGCAGTAAGCATTGTTTAACATTTATTGA ATGCTT		VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding	1/23						chr8	TogoVar
VKORC1_chr16_31085854_31099797	31086799	CAGGGCAG others(29): Show CAGGGCAGCCACCCCCACCTCTTCGGCCCCAGGGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	308	0.0032	-36	c.42 others(47): Show c.4299_*4334delCAGCCCTGGGGCCGAAGAGGTGGGGGTGGCTGCC CT		VKORC1	ENSG00000167397.15	transcript	ENST00000394975.3	protein_coding					4054		chr16	TogoVar
VN1R4_chr19_53261676_53272723	53270701	GGGGAGAG others(29): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02922.hp1 NA18968.hp1 HG02647.hp1 HG02922.hp1 NA18968.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0012 a0001c0001 a0002c0002 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0009c0012t0001 a0001c0001t0001 a0002c0002t0001 a0009c0012t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0009c0012t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000 a0009c0012t0001g0000	3	76	0.0395	-36	c.-30 others(47): Show c.-3072_-3037delTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CC		VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding					2979		chr19	TogoVar
VPS13B_chr8_99008274_99882580	99730660	TCTCCTGA others(29): Show TCTCCTGAAAGGTACCTGTAGGTACAGGTACAGGTAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp2 others(6): Show HG01106.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02273.hp2 HG02300.hp1 HG03139.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0023 a0001c0002 a0002c0003 a0004c0023	a0001c0002t0001 a0001c0002t0002 a0002c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0003 a0004c0023t0005	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0030 a0001c0002t0002g0001 a0002c0003t0003g0058 a0004c0023t0005g0106	9	132	0.0682	-36	c.705 others(55): Show c.7050+9694_7050+9729delAGGTACCTGTAGGTACAGGTACAGGT ACCTCCTGAA		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	39/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS8_chr3_184807166_185057604	184998479	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01358.hp1 others(17): Show HG00639.hp2 HG00735.hp2 HG01358.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0004 a0003c0012 others(5): Show a0001c0001 a0003c0004 a0003c0012 a0003c0016 a0004c0006 a0004c0008 a0006c0007 a0006c0034	a0001c0001t0002 a0003c0004t0001 a0003c0012t0001 others(5): Show a0001c0001t0002 a0003c0004t0001 a0003c0012t0001 a0003c0016t0001 a0004c0006t0007 a0004c0008t0003 a0006c0007t0001 a0006c0034t0001	a0001c0001t0002g0102 a0001c0001t0002g0137 a0001c0001t0002g0263 others(17): Show a0001c0001t0002g0102 a0001c0001t0002g0137 a0001c0001t0002g0263 a0003c0004t0001g0064 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0012t0001g0001 a0003c0012t0001g0002 a0003c0012t0001g0003 a0003c0012t0001g0052 a0003c0016t0001g0032 a0003c0016t0001g0041 a0004c0006t0007g0020 a0004c0006t0007g0021 a0004c0008t0003g0063 a0006c0007t0001g0035 a0006c0007t0001g0036 a0006c0007t0001g0038 a0006c0007t0001g0068 a0006c0034t0001g0039	20	22	0.9091	-36	c.383 others(55): Show c.3837-1192_3837-1157delTATATATATATATATATATATATATA TATATATATA		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	44/47					INFO_REALIGN_3_PRIME	chr3	TogoVar

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