Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBE2U_chr1_64198623_64272368	64239122	A A	AGAAGGAA others(39): Show AGAAGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02698.hp2 NA19011.hp2 HG00438.hp2 HG02698.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0253 a0001c0001t0002g0260 a0001c0001t0001g0043 a0001c0001t0002g0253 a0001c0001t0002g0260	3	330	0.0091	46	c.596 others(63): Show c.596-2526_596-2525insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGGAAGAGGAAG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBR1_chr15_42937897_43111038	43005362	A A	ATCTGGGA others(39): Show ATCTGGGAGGGAGGTGAGGGGCAGCCCCCGCCTGGCCAGCCGCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0003 a0015c0012t0003	a0015c0012t0003g0254 a0015c0012t0003g0254	1	276	0.0036	46	c.341 others(65): Show c.3416-1433_3416-1432insGGGGGCGGCTGGCCAGGCGGGGGCTG CCCCTCACCTCCCTCCCAGA	UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	30/46			chr15	TogoVar
UBR1_chr15_42937897_43111038	43005378	A A	AGGGGCAG others(39): Show AGGGGCAGCCCCCGCCTGGCCAGCCGCCCCCTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(214): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0006 others(19): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0025 a0002c0003 a0003c0004 a0004c0010 a0005c0005 a0007c0008 a0008c0011 a0009c0024 a0010c0022 a0011c0020 a0012c0014 a0013c0013 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0006t0004 a0001c0009t0008 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0025t0003 a0002c0003t0001 a0003c0004t0003 a0004c0010t0003 a0005c0005t0003 a0007c0008t0001 a0008c0011t0001 a0009c0024t0003 a0010c0022t0001 a0011c0020t0001 a0012c0014t0001 a0013c0013t0009 a0014c0023t0013	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(214): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0263 a0001c0001t0004g0127 a0001c0001t0004g0136 a0001c0001t0004g0147 a0001c0001t0004g0161 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0187 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0056 a0001c0001t0005g0079 a0001c0001t0006g0046 a0001c0001t0006g0048 a0001c0001t0006g0072 a0001c0001t0007g0270 a0001c0001t0007g0272 a0001c0001t0011g0050 a0001c0001t0012g0030 a0001c0001t0014g0069 a0001c0001t0015g0007 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0006t0004g0135 a0001c0006t0004g0137 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0015t0001g0139 a0001c0016t0001g0114 a0001c0017t0001g0116 a0001c0018t0001g0028 a0001c0019t0003g0113 a0001c0025t0003g0236 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0125 a0002c0003t0001g0146 a0003c0004t0003g0227 a0003c0004t0003g0228 a0003c0004t0003g0253 a0004c0010t0003g0261 a0004c0010t0003g0262 a0005c0005t0003g0266 a0005c0005t0003g0267 a0007c0008t0001g0189 a0007c0008t0001g0194 a0008c0011t0001g0275 a0008c0011t0001g0276 a0009c0024t0003g0260 a0010c0022t0001g0169 a0011c0020t0001g0026 a0012c0014t0001g0089 a0013c0013t0009g0117 a0014c0023t0013g0103	217	276	0.7862	46	c.341 others(65): Show c.3416-1449_3416-1448insCCACCTCCCTCCCGGAGGGGGCGGCT GGCCAGGCGGGGGCTGCCCC	UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	30/46			chr15	TogoVar
UBR1_chr15_42937897_43111038	43005391	G G	GCCTGGCC others(39): Show GCCTGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0112 a0001c0021t0003g0112	1	276	0.0036	46	c.341 others(65): Show c.3416-1462_3416-1461insTGGGGGCTGCCCCCCACCTCCCTCCC GGAGGGGGCGGCTGGCCAGG	UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	30/46			chr15	TogoVar
UBR2_chr6_42559029_42698505	42614332	A A	ATGTGTAT others(39): Show ATGTGTATGTATATATGTGTATGTGTGTATGTATGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	342	0.0029	46	c.986 others(61): Show c.986-730_986-729insATATATGTGTATGTGTGTATGTATGTGTGT ATATATGTGTGTATGT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	8/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169831107	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	324	0.0031	46	c.545 others(63): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATATATATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATACAT others(39): Show ATATACATATATATATATATATATATATGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02572.hp1 others(1): Show HG02145.hp1 HG02258.hp2 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0016 a0001c0003t0005 a0001c0003t0016	a0001c0003t0005g0247 a0001c0003t0005g0251 a0001c0003t0016g0248 others(1): Show a0001c0003t0005g0247 a0001c0003t0005g0251 a0001c0003t0016g0248 a0001c0003t0016g0250	4	324	0.0124	46	c.103 others(63): Show c.1039-606_1039-605insCATATATATATATATATATATATGTGTA TATATATATATGTGTATA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02155.hp2 HG02976.hp1 others(5): Show HG01358.hp2 HG02155.hp2 HG02976.hp1 NA18942.hp1 NA18952.hp2 NA18995.hp2 NA19056.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0002 a0001c0002t0007 a0001c0021t0002 a0001c0002t0002 a0001c0002t0007 a0001c0021t0002	a0001c0002t0002g0136 a0001c0002t0002g0144 a0001c0002t0002g0146 others(5): Show a0001c0002t0002g0136 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0007g0131 a0001c0021t0002g0157	8	324	0.0247	46	c.103 others(63): Show c.1039-601_1039-600insATATATATATATATATATATGTGTGTAT ATATATATGTATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATGTGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	324	0.0031	46	c.103 others(63): Show c.1039-601_1039-600insATATATATATATATATATGTGTGTGTAT ATATATATGTATATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATGT others(39): Show ATATATGTGTGTATATATATATGTATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp1 HG02055.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0172 a0001c0002t0002g0173	2	324	0.0062	46	c.103 others(63): Show c.1039-605_1039-604insGTGTGTATATATATATGTATATATGTGT GTATATATATATGTATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890557	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0277 a0001c0007t0007g0277	1	324	0.0031	46	c.103 others(63): Show c.1039-601_1039-600insATATATATATATATATATATATGTGTAT ATATATATATGTATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAAATGGA others(39): Show AAAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	328	0.0031	46	c.62+ others(63): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCATTT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UCN3_chr10_5359966_5379692	5370189	A A	ATGCGTGT others(39): Show ATGCGTGTGTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0243 a0002c0001t0002g0243	1	468	0.0021	46	c.-6- others(61): Show c.-6-3515_-6-3514insGCGTGTGTGTATGCGTGTGTATATGCGTGT GTATGTGCGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370842	T T	TGTGTATA others(39): Show TGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0187 a0002c0001t0001g0188	2	468	0.0043	46	c.-6- others(61): Show c.-6-2869_-6-2868insATATGCGTGTGTATATGCGTGTGTATATGC GTGTGTATATGCGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370896	C C	CGTGTGTG others(39): Show CGTGTGTGTGTGTGTATGTGTGTGTGTATGTGCGTGTGTGTATGCGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03139.hp2 HG02559.hp1 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0006 a0002c0001t0001 a0002c0001t0006	a0002c0001t0001g0173 a0002c0001t0006g0175 a0002c0001t0001g0173 a0002c0001t0006g0175	2	468	0.0043	46	c.-6- others(61): Show c.-6-2813_-6-2812insGTGTGTGTATGTGTGTGTGTATGTGCGTGT GTGTATGCGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UEVLD_chr11_18524609_18593734	18560090	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	400	0.0025	46	c.613 others(63): Show c.613-1806_613-1761dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560138	C C	CACACACA others(39): Show CACACACACACACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	400	0.0025	46	c.613 others(63): Show c.613-1809_613-1808insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01074.hp2 others(9): Show HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG02132.hp1 HG04115.hp2 NA18747.hp1 NA18984.hp2 NA19005.hp1 NA19083.hp1 NA19088.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0023 a0001c0001 a0001c0003 a0011c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0059 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0059 a0001c0003t0002 a0001c0003t0007 a0001c0003t0044 a0011c0023t0002	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 others(9): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0004g0030 a0001c0001t0004g0103 a0001c0001t0059g0014 a0001c0003t0002g0165 a0001c0003t0002g0192 a0001c0003t0002g0203 a0001c0003t0007g0222 a0001c0003t0044g0202 a0011c0023t0002g0221	12	332	0.0361	46	c.522 others(61): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATATATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(39): Show GATATATATATATATATATATGATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA19006.hp1 NA19075.hp1 NA18612.hp2 NA19006.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0002 a0002c0002t0017	a0002c0002t0002g0001 a0002c0002t0002g0150 a0002c0002t0017g0134 a0002c0002t0002g0001 a0002c0002t0002g0150 a0002c0002t0017g0134	3	280	0.0107	46	c.-12 others(57): Show c.-1223_-1222insATATATATATATATATATATGATATATATATATA TATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(39): Show GATATATATATATATATATGATATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA19067.hp2 NA19077.hp2 HG02083.hp2 NA19067.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0151 a0002c0002t0002g0001 a0002c0002t0002g0151	3	280	0.0107	46	c.-12 others(57): Show c.-1223_-1222insATATATATATATATATATGATATATATATATATA TATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UMODL1_chr21_42066317_42147996	42140300	C C	CGTCCCAG others(39): Show CGTCCCAGGTCACGTGGCTAGGAGGTCCAGGGCAAGAAGGGATAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(58): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01123.hp1 HG01123.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19007.hp1 NA19012.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0007 a0008 a0009 a0010 a0011 a0012 a0018 a0026 a0027 a0028 a0031 a0034 a0045 a0050 a0063 a0072 a0073 a0074 a0088 a0092 a0094 a0096 a0100 a0111 a0117 a0121	a0001c0001 a0001c0008 a0001c0182 others(33): Show a0001c0001 a0001c0008 a0001c0182 a0002c0004 a0002c0023 a0003c0003 a0003c0045 a0007c0011 a0008c0026 a0009c0027 a0010c0015 a0010c0142 a0011c0152 a0011c0189 a0012c0054 a0018c0192 a0026c0108 a0027c0061 a0027c0194 a0028c0022 a0031c0028 a0034c0059 a0045c0047 a0050c0143 a0063c0067 a0072c0074 a0073c0071 a0074c0070 a0088c0112 a0092c0096 a0094c0092 a0096c0095 a0100c0100 a0111c0188 a0117c0136 a0121c0193	a0001c0001t0003 a0001c0008t0003 a0001c0182t0003 others(34): Show a0001c0001t0003 a0001c0008t0003 a0001c0182t0003 a0002c0004t0003 a0002c0023t0003 a0003c0003t0003 a0003c0003t0027 a0003c0045t0003 a0007c0011t0003 a0008c0026t0003 a0009c0027t0003 a0010c0015t0003 a0010c0142t0003 a0011c0152t0003 a0011c0189t0003 a0012c0054t0003 a0018c0192t0003 a0026c0108t0026 a0027c0061t0003 a0027c0194t0003 a0028c0022t0003 a0031c0028t0003 a0034c0059t0003 a0045c0047t0016 a0050c0143t0003 a0063c0067t0003 a0072c0074t0003 a0073c0071t0003 a0074c0070t0003 a0088c0112t0003 a0092c0096t0003 a0094c0092t0003 a0096c0095t0003 a0100c0100t0003 a0111c0188t0003 a0117c0136t0003 a0121c0193t0003	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 others(57): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0110 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0220 a0001c0001t0003g0311 a0001c0001t0003g0334 a0001c0001t0003g0356 a0001c0001t0003g0395 a0001c0008t0003g0283 a0001c0182t0003g0197 a0002c0004t0003g0136 a0002c0004t0003g0146 a0002c0023t0003g0048 a0003c0003t0003g0141 a0003c0003t0027g0025 a0003c0045t0003g0351 a0007c0011t0003g0302 a0007c0011t0003g0339 a0008c0026t0003g0245 a0008c0026t0003g0310 a0008c0026t0003g0328 a0009c0027t0003g0175 a0010c0015t0003g0097 a0010c0015t0003g0100 a0010c0142t0003g0258 a0011c0152t0003g0212 a0011c0189t0003g0186 a0012c0054t0003g0256 a0018c0192t0003g0158 a0026c0108t0026g0306 a0027c0061t0003g0352 a0027c0194t0003g0183 a0028c0022t0003g0189 a0028c0022t0003g0190 a0028c0022t0003g0191 a0028c0022t0003g0224 a0031c0028t0003g0298 a0034c0059t0003g0322 a0034c0059t0003g0325 a0045c0047t0016g0297 a0050c0143t0003g0024 a0063c0067t0003g0357 a0072c0074t0003g0313 a0073c0071t0003g0358 a0074c0070t0003g0242 a0088c0112t0003g0238 a0092c0096t0003g0293 a0094c0092t0003g0331 a0096c0095t0003g0350 a0100c0100t0003g0130 a0111c0188t0003g0205 a0117c0136t0003g0213 a0121c0193t0003g0361	61	400	0.1525	46	c.22 others(63): Show c.22-1762_*22-1717dupAGAAGGGATAGGTGTCCCAGGTCACGTG GCTAGGAGGTCCAGGGCA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0135 a0001c0007t0016g0135	1	158	0.0063	46	c.493 others(67): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(39): Show AATATATATATATATATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01981.hp2 others(4): Show HG00735.hp2 HG01346.hp1 HG01981.hp2 HG03654.hp1 NA18954.hp2 NA18969.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0017 a0001c0005 a0002c0002 a0002c0017	a0001c0005t0001 a0001c0005t0039 a0002c0002t0002 others(2): Show a0001c0005t0001 a0001c0005t0039 a0002c0002t0002 a0002c0002t0005 a0002c0017t0002	a0001c0005t0001g0087 a0001c0005t0039g0204 a0002c0002t0002g0017 others(4): Show a0001c0005t0001g0087 a0001c0005t0039g0204 a0002c0002t0002g0017 a0002c0002t0002g0137 a0002c0002t0002g0150 a0002c0002t0005g0094 a0002c0017t0002g0034	7	204	0.0343	46	c.595 others(63): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT TTATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UPF1_chr19_18826959_18873230	18829608	T T	TATATATA others(39): Show TATATATATGTATATATATATACATATATATATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18991.hp2 HG02132.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0223 a0001c0001t0001g0004 a0001c0001t0001g0223	2	394	0.0051	46	c.-26 others(57): Show c.-2602_-2601insATATATATGTATATATATATACATATATATATGT ATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2350		chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102646940	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp2 NA18966.hp1 others(1): Show NA18945.hp1 NA18945.hp2 NA18966.hp1 NA18968.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0008 a0005c0006t0001 a0001c0001t0001 a0001c0001t0008 a0005c0006t0001	a0001c0001t0001g0076 a0001c0001t0008g0101 a0005c0006t0001g0015 a0001c0001t0001g0076 a0001c0001t0008g0101 a0005c0006t0001g0015	4	140	0.0286	46	c.-42 others(57): Show c.-4200_-4199insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4150		chr7	TogoVar
URAD_chr13_27972717_27993693	27991283	A A	ATAGGTAT others(39): Show ATAGGTATAGGTATAGTTATATGTATATGTATAGGTGTAGGTGTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG02723.hp2 others(9): Show HG01496.hp1 HG02258.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0052 a0001c0001t0002g0053 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0138	12	428	0.0280	46	c.-26 others(57): Show c.-2647_-2646insCCTACACCTACACCTATACATATACATATAACTA TACCTATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2591		chr13	TogoVar
URB1_chr21_32306018_32398012	32332517	A A	AAAGACAA others(39): Show AAAGACAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01175.hp2 others(9): Show HG01071.hp1 HG01123.hp1 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01934.hp1 HG02109.hp1 HG02559.hp1 HG02738.hp2 NA18980.hp1 NA19084.hp2	a0001 a0015 a0021 a0001 a0015 a0021	a0001c0001 a0001c0002 a0001c0056 others(2): Show a0001c0001 a0001c0002 a0001c0056 a0015c0035 a0021c0047	a0001c0001t0001 a0001c0002t0003 a0001c0056t0017 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0056t0017 a0015c0035t0012 a0021c0047t0017	a0001c0001t0001g0005 a0001c0001t0001g0123 a0001c0001t0001g0136 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0180 a0001c0002t0003g0188 a0001c0056t0017g0070 a0015c0035t0012g0098 a0021c0047t0017g0091	12	338	0.0355	46	c.496 others(63): Show c.4960+799_4960+800insGTTTTTTTAACTTGAGTTTGGGGATTTT TTTTTTTTTTTTTGTCTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03471.hp1 HG03491.hp2 others(2): Show HG01099.hp2 HG03471.hp1 HG03491.hp2 NA18963.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0004 others(1): Show a0001c0002 a0001c0009 a0002c0004 a0002c0005	a0001c0002t0003 a0001c0009t0013 a0002c0004t0002 others(2): Show a0001c0002t0003 a0001c0009t0013 a0002c0004t0002 a0002c0004t0007 a0002c0005t0002	a0001c0002t0003g0278 a0001c0009t0013g0086 a0002c0004t0002g0293 others(2): Show a0001c0002t0003g0278 a0001c0009t0013g0086 a0002c0004t0002g0293 a0002c0004t0007g0287 a0002c0005t0002g0254	5	338	0.0148	46	c.496 others(63): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332523	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAAAGAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00673.hp1 others(45): Show HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01123.hp2 HG01168.hp1 HG01496.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18984.hp1 NA19004.hp1 NA19007.hp2 NA19030.hp1 NA19068.hp2 NA19079.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0014 a0025 a0028 a0029	a0001c0013 a0003c0003 a0004c0007 others(7): Show a0001c0013 a0003c0003 a0004c0007 a0004c0016 a0004c0045 a0014c0025 a0014c0026 a0025c0044 a0028c0032 a0029c0028	a0001c0013t0006 a0003c0003t0004 a0003c0003t0009 others(13): Show a0001c0013t0006 a0003c0003t0004 a0003c0003t0009 a0003c0003t0015 a0003c0003t0026 a0003c0003t0042 a0003c0003t0044 a0004c0007t0005 a0004c0016t0005 a0004c0016t0040 a0004c0045t0019 a0014c0025t0019 a0014c0026t0019 a0025c0044t0005 a0028c0032t0004 a0029c0028t0015	a0001c0013t0006g0308 a0001c0013t0006g0309 a0001c0013t0006g0310 others(42): Show a0001c0013t0006g0308 a0001c0013t0006g0309 a0001c0013t0006g0310 a0003c0003t0004g0002 a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0019 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0029 a0003c0003t0004g0035 a0003c0003t0004g0036 a0003c0003t0004g0037 a0003c0003t0004g0038 a0003c0003t0004g0041 a0003c0003t0004g0049 a0003c0003t0004g0050 a0003c0003t0004g0051 a0003c0003t0009g0003 a0003c0003t0009g0026 a0003c0003t0009g0027 a0003c0003t0009g0030 a0003c0003t0009g0033 a0003c0003t0015g0022 a0003c0003t0015g0054 a0003c0003t0026g0031 a0003c0003t0026g0032 a0003c0003t0042g0048 a0003c0003t0044g0040 a0004c0007t0005g0008 a0004c0007t0005g0210 a0004c0007t0005g0211 a0004c0007t0005g0295 a0004c0007t0005g0296 a0004c0007t0005g0297 a0004c0007t0005g0298 a0004c0016t0005g0103 a0004c0016t0005g0135 a0004c0016t0040g0120 a0004c0045t0019g0083 a0014c0025t0019g0066 a0014c0026t0019g0065 a0025c0044t0005g0209 a0028c0032t0004g0023 a0029c0028t0015g0053	48	338	0.1420	46	c.496 others(63): Show c.4960+748_4960+793dupGTCTTTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332524	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAAAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0039 a0003c0003t0004g0039	1	338	0.0030	46	c.496 others(63): Show c.4960+792_4960+793insGTCTTTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USP12_chr13_27061156_27176811	27063854	A A	AGGGAGAG others(39): Show AGGGAGAGGGAAGGAGGGAAGGAGGAAGGAAGGAAGGGGGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	167	0.0060	46	c.54 others(57): Show c.5428_*5429insCTCCCCTCCCCCTTCCTTCCTTCCTCCTTCCCTC CTTCCCTCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2301		chr13	TogoVar
USP40_chr2_233470526_233571782	233494962	A A	ATATATAT others(39): Show ATATATATATATTTATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	324	0.0031	46	c.279 others(65): Show c.2791-1412_2791-1411insAATATATATATATATATATATATATA TATATATAAATATATATATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	AGATATAT others(39): Show AGATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0320 a0001c0004t0005g0320	1	380	0.0026	46	c.-94 others(63): Show c.-941-410_-941-409insGATATATATATATATATATATATGTGTG TGTGTGTGTGTGTGTGTG	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18			chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(39): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01257.hp2 HG01884.hp1 others(2): Show HG01106.hp2 HG01257.hp2 HG01884.hp1 HG02602.hp1 NA20805.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0019 a0001c0006t0005g0211 a0001c0006t0005g0212 others(1): Show a0001c0006t0005g0019 a0001c0006t0005g0211 a0001c0006t0005g0212 a0001c0006t0005g0213	5	380	0.0132	46	c.-94 others(63): Show c.-941-409_-941-408insATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	338	0.0030	46	c.271 others(63): Show c.2719-628_2719-627insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	293	0.0034	46	c.96+ others(61): Show c.96+1961_96+1962insACACACACACACACACACACACACTCTCTC TCTCTCTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTRN_chr6_144280335_144858034	144360032	T T	TTTCCCTT others(39): Show TTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG03516.hp1 HG03098.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0005 a0001c0006t0003 a0001c0006t0005	a0001c0006t0003g0124 a0001c0006t0005g0123 a0001c0006t0005g0125 a0001c0006t0003g0124 a0001c0006t0005g0123 a0001c0006t0005g0125	3	128	0.0234	46	c.80- others(63): Show c.80-43066_80-43065insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UVSSA_chr4_1342208_1393049	1372861	T T	TGCACTCA others(39): Show TGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03669.hp1 NA19012.hp2 others(1): Show HG02135.hp2 HG03669.hp1 NA19012.hp2 NA19067.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0023 a0003c0002t0002g0170 a0003c0002t0002g0214 a0003c0002t0002g0023 a0003c0002t0002g0170 a0003c0002t0002g0214	4	400	0.0100	46	c.128 others(65): Show c.1289-2460_1289-2459insAGGGCACTCACCTCCCGCGTCTCAGG GCACTCACCTCCCGCGTCTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAMP1_chr12_6457237_6475677	6465357	A A	AGTATATA others(39): Show AGTATATATATATATACATGTATATATATGTATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	446	0.0022	46	c.289 others(61): Show c.289-417_289-416insATGTATATATATATATACATATATATACAT GTATATATATATATAC	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAMP3_chr1_7766296_7786432	7782299	C C	CCGCGGCA others(39): Show CCGCGGCAGGCGCCTCTCATCTCAGGTTGAAATCCGCCTTCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02895.hp1 others(2): Show HG02055.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017	a0001c0001t0009g0013 a0001c0001t0011g0013 a0001c0001t0017g0013 a0001c0001t0009g0013 a0001c0001t0011g0013 a0001c0001t0017g0013	5	446	0.0112	46	c.26 others(57): Show c.2654_*2655insCGCGGCAGGCGCCTCTCATCTCAGGTTGAAATCC GCCTTCCCCACT	VAMP3	ENSG00000049245.13	transcript	ENST00000054666.11	protein_coding		868		chr1	TogoVar
VAV1_chr19_6767708_6862361	6814674	T T	TCCTTCCT others(39): Show TCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	306	0.0033	46	c.205 others(63): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26			chr19	TogoVar
VAV1_chr19_6767708_6862361	6816536	G G	GACACACA others(39): Show GACACACACACATGCAGATACACACAGACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01167.hp1 others(1): Show HG00733.hp1 HG01123.hp2 HG01167.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0260	4	306	0.0131	46	c.205 others(63): Show c.205-4155_205-4154insTGCAGATACACACAGACACACACACACA CACACACACACACACACA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827300	G G	GGCATCGC others(39): Show GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0001 a0001c0006t0009g0001	1	200	0.0050	46	c.449 others(63): Show c.449+6971_449+6972insGTGCTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGCTGGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827444	G G	GGCATCGC others(39): Show GGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0035 a0001c0006t0002g0035	1	200	0.0050	46	c.449 others(63): Show c.449+6827_449+6828insGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGCTGGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827604	C C	CCGCTGCG others(39): Show CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0153 a0002c0001t0001g0153	1	200	0.0050	46	c.449 others(63): Show c.449+6667_449+6668insAGCTGGCGATGCCCGTGCTCAGTGGTCA GCCCCAGTGGGCGCAGCG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827636	G G	GGCATCGC others(39): Show GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0018 a0001c0002t0017g0018	1	200	0.0050	46	c.449 others(63): Show c.449+6635_449+6636insGTGCTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGCTGGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828068	G G	GGCATCGC others(39): Show GGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0035 a0001c0006t0002g0035	1	200	0.0050	46	c.449 others(63): Show c.449+6203_449+6204insGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGCTGGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCL_chr10_73993116_74125169	74018179	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATAAATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	264	0.0038	46	c.168 others(65): Show c.168+19827_168+19828insTATATATATATATATATAAATACATA TATATATATATATATATATA	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX3B_chrX_8459830_8471510	8467308	A A	AGGAAGAG others(39): Show AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	271	0.0037	46	c.92 others(55): Show c.925_*926insGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAG GTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		799		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237109	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	328	0.0031	46	c.375 others(59): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGA AGAGAGAGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar

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