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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Select column to sort.

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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
UEVLD_chr11_18524609_18593734	18575883	TGTCAACA others(23): Show TGTCAACACCTACCTCCACTACGCCCCCTCA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	400	0.0025	-30	c.128 others(45): Show c.128-501_128-472delTGAGGGGGCGTAGTGGAGGTAGGTGTTGAC	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	2/11			chr11	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02145.hp1 others(10): Show HG00673.hp1 HG02040.hp1 HG02145.hp1 HG02559.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03540.hp1 NA18947.hp1 NA18968.hp2 NA18970.hp1 NA19060.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0059	a0001c0001t0004g0271 a0001c0001t0004g0292 a0001c0001t0004g0293 others(10): Show a0001c0001t0004g0271 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0015g0189 a0001c0001t0015g0355 a0001c0001t0019g0175 a0001c0001t0059g0190	13	424	0.0307	-30	c.99- others(45): Show c.99-2677_99-2648delATATATATATATATATATATATATATATAT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGDH_chr4_39493755_39532439	39531983	ACCCAGGC others(23): Show ACCCAGGCTGGAATGCATTGGCATGAACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	416	0.0024	-30	c.-47 others(41): Show c.-4738_-4709delCGTGTTCATGCCAATGCATTCCAGCCTGGG	UGDH	ENSG00000109814.12	transcript	ENST00000316423.11	protein_coding		4545		chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18947.hp2 HG01070.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0286 a0001c0001t0001g0218 a0001c0001t0001g0286	2	318	0.0063	-30	c.149 others(49): Show c.1497+1353_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK2_chr17_19765830_19872936	19831261	GATTCACT others(23): Show GATTCACTCACCTCCCACCAAGCCCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0164 a0006c0013t0001g0164	1	288	0.0035	-30	c.788 others(47): Show c.788-5105_788-5076delGGGGAGGGGCTTGGTGGGAGGTGAGTGA AT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	10/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41300837	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0016 a0004c0004t0002g0016	1	72	0.0139	-30	c.367 others(51): Show c.3679-51293_3679-51264delTATATATATATATATATATATATA TATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41602251	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0024 a0020c0023t0001g0024	1	72	0.0139	-30	c.312 others(51): Show c.3120+13388_3120+13417delCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02615.hp1 HG02809.hp2 others(1): Show HG00280.hp1 HG02615.hp1 HG02809.hp2 HG03540.hp1	a0003 a0024 a0102 a0003 a0024 a0102	a0003c0050 a0024c0031 a0102c0146 a0003c0050 a0024c0031 a0102c0146	a0003c0050t0001 a0024c0031t0006 a0102c0146t0001 a0003c0050t0001 a0024c0031t0006 a0102c0146t0001	a0003c0050t0001g0079 a0024c0031t0006g0077 a0024c0031t0006g0078 others(1): Show a0003c0050t0001g0079 a0024c0031t0006g0077 a0024c0031t0006g0078 a0102c0146t0001g0076	4	400	0.0100	-30	c.319 others(45): Show c.319+791_319+820delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42137829	GATGTGCA others(23): Show GATGTGCATGTCCTGCCTTGCCATCCATGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(63): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01123.hp1 HG01123.hp2 HG01346.hp1 HG01884.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 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03209.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19007.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0007 a0008 a0009 a0010 a0011 a0012 a0018 a0026 a0027 a0028 a0031 a0034 a0035 a0050 a0060 a0063 a0072 a0073 a0074 a0088 a0092 a0094 a0096 a0100 a0111 a0117 a0121 a0125	a0001c0001 a0001c0008 a0001c0182 others(37): Show a0001c0001 a0001c0008 a0001c0182 a0002c0004 a0002c0005 a0002c0023 a0003c0003 a0003c0045 a0007c0011 a0007c0043 a0008c0026 a0009c0027 a0010c0015 a0010c0142 a0011c0152 a0011c0189 a0012c0054 a0018c0192 a0026c0108 a0027c0061 a0027c0194 a0028c0022 a0031c0028 a0034c0059 a0035c0035 a0050c0143 a0060c0169 a0063c0067 a0072c0074 a0073c0071 a0074c0070 a0088c0112 a0092c0096 a0094c0092 a0096c0095 a0100c0100 a0111c0188 a0117c0136 a0121c0193 a0125c0144	a0001c0001t0003 a0001c0008t0003 a0001c0182t0003 others(38): Show a0001c0001t0003 a0001c0008t0003 a0001c0182t0003 a0002c0004t0003 a0002c0005t0003 a0002c0023t0003 a0003c0003t0003 a0003c0003t0027 a0003c0045t0003 a0007c0011t0003 a0007c0043t0017 a0008c0026t0003 a0009c0027t0003 a0010c0015t0003 a0010c0142t0003 a0011c0152t0003 a0011c0189t0003 a0012c0054t0003 a0018c0192t0003 a0026c0108t0026 a0027c0061t0003 a0027c0194t0003 a0028c0022t0003 a0031c0028t0003 a0034c0059t0003 a0035c0035t0003 a0050c0143t0003 a0060c0169t0003 a0063c0067t0003 a0072c0074t0003 a0073c0071t0003 a0074c0070t0003 a0088c0112t0003 a0092c0096t0003 a0094c0092t0003 a0096c0095t0003 a0100c0100t0003 a0111c0188t0003 a0117c0136t0003 a0121c0193t0003 a0125c0144t0025	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 others(62): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0110 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0220 a0001c0001t0003g0311 a0001c0001t0003g0334 a0001c0001t0003g0356 a0001c0001t0003g0395 a0001c0008t0003g0283 a0001c0182t0003g0197 a0002c0004t0003g0136 a0002c0004t0003g0146 a0002c0005t0003g0384 a0002c0023t0003g0048 a0003c0003t0003g0141 a0003c0003t0027g0025 a0003c0045t0003g0351 a0007c0011t0003g0302 a0007c0011t0003g0339 a0007c0043t0017g0317 a0007c0043t0017g0332 a0008c0026t0003g0245 a0008c0026t0003g0310 a0008c0026t0003g0328 a0009c0027t0003g0175 a0010c0015t0003g0097 a0010c0015t0003g0100 a0010c0142t0003g0258 a0011c0152t0003g0212 a0011c0189t0003g0186 a0012c0054t0003g0256 a0018c0192t0003g0158 a0026c0108t0026g0306 a0027c0061t0003g0352 a0027c0194t0003g0183 a0028c0022t0003g0189 a0028c0022t0003g0190 a0028c0022t0003g0191 a0028c0022t0003g0224 a0031c0028t0003g0298 a0034c0059t0003g0322 a0034c0059t0003g0325 a0035c0035t0003g0065 a0050c0143t0003g0024 a0060c0169t0003g0026 a0063c0067t0003g0357 a0072c0074t0003g0313 a0073c0071t0003g0358 a0074c0070t0003g0242 a0088c0112t0003g0238 a0092c0096t0003g0293 a0094c0092t0003g0331 a0096c0095t0003g0350 a0100c0100t0003g0130 a0111c0188t0003g0205 a0117c0136t0003g0213 a0121c0193t0003g0361 a0125c0144t0025g0156	66	400	0.1650	-30	c.21 others(45): Show c.21+189_*21+218delATGTGCATGTCCTGCCTTGCCATCCATGGT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/22			chr21	TogoVar
UNC13A_chr19_17596336_17693354	17629892	TCAACTCC others(23): Show TCAACTCCAATCTCAATTTAAACCCTAACCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG01070.hp1 others(45): Show HG00423.hp2 HG00741.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18964.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19012.hp1 NA19043.hp2 NA19063.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0002 a0001c0004 a0001c0007 others(11): Show a0001c0002 a0001c0004 a0001c0007 a0001c0020 a0001c0024 a0001c0042 a0001c0054 a0001c0066 a0002c0005 a0002c0009 a0002c0033 a0004c0048 a0009c0043 a0010c0035	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(24): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0019 a0001c0002t0020 a0001c0002t0039 a0001c0004t0001 a0001c0004t0009 a0001c0004t0041 a0001c0007t0001 a0001c0007t0005 a0001c0007t0025 a0001c0020t0001 a0001c0020t0005 a0001c0024t0019 a0001c0042t0001 a0001c0054t0009 a0001c0066t0019 a0002c0005t0001 a0002c0009t0005 a0002c0009t0043 a0002c0033t0030 a0004c0048t0005 a0009c0043t0001 a0010c0035t0001	a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0157 others(45): Show a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0157 a0001c0002t0001g0178 a0001c0002t0001g0193 a0001c0002t0001g0229 a0001c0002t0001g0265 a0001c0002t0001g0308 a0001c0002t0005g0121 a0001c0002t0007g0013 a0001c0002t0009g0176 a0001c0002t0012g0018 a0001c0002t0012g0076 a0001c0002t0012g0294 a0001c0002t0012g0304 a0001c0002t0019g0092 a0001c0002t0020g0025 a0001c0002t0039g0234 a0001c0004t0001g0010 a0001c0004t0001g0114 a0001c0004t0001g0137 a0001c0004t0001g0149 a0001c0004t0001g0191 a0001c0004t0001g0218 a0001c0004t0001g0238 a0001c0004t0009g0186 a0001c0004t0041g0112 a0001c0007t0001g0042 a0001c0007t0001g0048 a0001c0007t0005g0173 a0001c0007t0025g0320 a0001c0020t0001g0005 a0001c0020t0005g0077 a0001c0024t0019g0100 a0001c0042t0001g0226 a0001c0054t0009g0293 a0001c0066t0019g0054 a0002c0005t0001g0141 a0002c0005t0001g0288 a0002c0009t0005g0006 a0002c0009t0005g0007 a0002c0009t0005g0008 a0002c0009t0005g0182 a0002c0009t0043g0225 a0002c0033t0030g0142 a0004c0048t0005g0177 a0009c0043t0001g0204 a0010c0035t0001g0002	48	320	0.1500	-30	c.366 others(47): Show c.3669+223_3669+252delGGGTTAGGGTTTAAATTGAGATTGGAGT TG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	30/43			chr19	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01884.hp1 others(20): Show HG00735.hp1 HG01243.hp1 HG01884.hp1 HG01943.hp1 HG02055.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG03017.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp2 NA18939.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18979.hp1 NA18989.hp2 NA18993.hp2 NA19081.hp2 NA19090.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0040 a0002c0017 a0002c0019 a0005c0011 a0011c0039 a0013c0030	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(17): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0018 a0001c0001t0025 a0001c0002t0002 a0001c0002t0020 a0001c0002t0024 a0001c0003t0009 a0001c0003t0010 a0001c0004t0052 a0001c0005t0003 a0001c0007t0012 a0001c0014t0002 a0001c0040t0026 a0002c0017t0007 a0002c0019t0031 a0005c0011t0003 a0011c0039t0001 a0013c0030t0014	a0001c0001t0002g0074 a0001c0001t0002g0141 a0001c0001t0006g0124 others(20): Show a0001c0001t0002g0074 a0001c0001t0002g0141 a0001c0001t0006g0124 a0001c0001t0011g0069 a0001c0001t0011g0077 a0001c0001t0018g0033 a0001c0001t0025g0004 a0001c0002t0002g0082 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0024g0138 a0001c0003t0009g0110 a0001c0003t0010g0023 a0001c0004t0052g0036 a0001c0005t0003g0066 a0001c0007t0012g0154 a0001c0014t0002g0087 a0001c0040t0026g0027 a0002c0017t0007g0049 a0002c0019t0031g0071 a0005c0011t0003g0078 a0011c0039t0001g0037 a0013c0030t0014g0083	23	158	0.1456	-30	c.307 others(51): Show c.3071+29048_3071+29077delATATATATATATATATATATATAT ATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176859091	AGCTGCTA others(23): Show AGCTGCTAGAATGTCCTTGCTAGAGGGCATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp1 HG03486.hp1 others(2): Show HG01891.hp2 HG03041.hp1 HG03486.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0010 a0001c0001t0003g0009 a0001c0001t0003g0011 others(2): Show a0001c0001t0002g0010 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0080 a0001c0001t0003g0081	5	268	0.0187	-30	c.71- others(45): Show c.71-3520_71-3491delTCCTTGCTAGAGGGCATGGCTGCTAGAATG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859104	TCCTTGCT others(23): Show TCCTTGCTAGAGGGCATGGCTGCTAGAATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG02055.hp2 others(19): Show HG00099.hp2 HG01109.hp2 HG02055.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp1 HG02630.hp1 HG02683.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03209.hp2 HG03704.hp1 HG04199.hp2 NA18906.hp2 NA18954.hp2 NA18982.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19063.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0005t0002 a0001c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0036 others(19): Show a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0002g0248 a0001c0001t0014g0061 a0001c0001t0015g0041 a0001c0001t0016g0161 a0001c0005t0002g0235 a0001c0005t0002g0241 a0001c0007t0001g0135	22	268	0.0821	-30	c.71- others(45): Show c.71-3503_71-3474delGGCTGCTAGAATGCCCTTGCTAGAGGGCAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859121	GGCTGCTA others(23): Show GGCTGCTAGAATGCCCTTGCTAGAGGGCATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG02622.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	268	0.0075	-30	c.71- others(45): Show c.71-3495_71-3466delGAATGCCCTTGCTAGAGGGCATAGCTGCTA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859129	GAATGCCC others(23): Show GAATGCCCTTGCTAGAGGGCATAGCTGCTAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp2 HG02559.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0255 a0001c0001t0001g0032 a0001c0001t0001g0255	2	268	0.0075	-30	c.71- others(45): Show c.71-3490_71-3461delCCCTTGCTAGAGGGCATAGCTGCTACAATG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859271	AGCTGCTA others(23): Show AGCTGCTACAATGTCCTTGCTAGAGGGCATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp1 others(101): Show HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02970.hp2 HG03017.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18954.hp1 NA18963.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19030.hp1 NA19057.hp1 NA19074.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0004t0002 a0001c0009t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0002g0121 a0001c0001t0002g0140 a0001c0001t0002g0200 a0001c0001t0008g0046 a0001c0001t0009g0043 a0001c0001t0017g0007 a0001c0004t0002g0078 a0001c0009t0001g0176 a0003c0003t0001g0082 a0003c0003t0001g0084	104	268	0.3881	-30	c.71- others(45): Show c.71-3345_71-3316delCAATGTCCTTGCTAGAGGGCATGGCTGCTA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859284	TCCTTGCT others(23): Show TCCTTGCTAGAGGGCATGGCTGCTAGAATGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01515.hp2 HG01517.hp1 others(2): Show HG01069.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0151 a0001c0001t0001g0203	5	268	0.0187	-30	c.71- others(45): Show c.71-3323_71-3294delGGCTGCTAGAATGCCCTTGCTAGAGGGCAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859497	CCCTTGCT others(23): Show CCCTTGCTAGAGGGCATAGCTGCTAGAATGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02615.hp1 others(13): Show HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0094 a0001c0001t0003g0092 a0001c0001t0003g0093 others(13): Show a0001c0001t0001g0094 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0005g0008 a0001c0001t0005g0013 a0001c0001t0005g0023 a0001c0001t0005g0249 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0243 a0001c0001t0013g0095	16	268	0.0597	-30	c.71- others(45): Show c.71-3080_71-3051delAGCTGCTAGAATGTCCTTGCTAGAGGGCAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859647	CCCTTGCT others(23): Show CCCTTGCTAGAGGGCATAGCTGCTAGAATGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02615.hp1 others(13): Show HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0094 a0001c0001t0003g0092 a0001c0001t0003g0093 others(13): Show a0001c0001t0001g0094 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0005g0008 a0001c0001t0005g0013 a0001c0001t0005g0023 a0001c0001t0005g0249 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0243 a0001c0001t0013g0095	16	268	0.0597	-30	c.71- others(45): Show c.71-2917_71-2888delTCCTTGCTAGAGGGCATAGCTGCTAGAATG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5D_chr8_35230475_35801540	35271278	TGTGTGTA others(23): Show TGTGTGTATGTATATGTATACACACATGCAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	64	0.0156	-30	c.103 others(49): Show c.103+35407_103+35436delTATACACACATGCACGTGTGTATGTA TATG	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35271308	CGTGTGTA others(23): Show CGTGTGTATGTATATGCATACACACGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03453.hp1 HG03471.hp2 HG02615.hp1 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0003t0003g0022 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0003t0003g0022	3	64	0.0469	-30	c.103 others(49): Show c.103+35451_103+35480delTGTGTGTATGTATATGCATACACACG TGCA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35271338	TGTGTGTA others(23): Show TGTGTGTATGTATATGCATACACACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02965.hp2 others(2): Show HG02630.hp1 HG02717.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0002t0024	a0001c0001t0002g0018 a0001c0001t0004g0024 a0001c0001t0004g0025 others(2): Show a0001c0001t0002g0018 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0025g0026 a0001c0002t0024g0027	5	64	0.0781	-30	c.103 others(49): Show c.103+35467_103+35496delCATACACACGTGCACGTGTGTATGTA TATG	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0027 a0001c0002t0024g0027	1	64	0.0156	-30	c.103 others(49): Show c.103+64578_103+64607delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512465	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0009	1	64	0.0156	-30	c.104 others(49): Show c.104-36812_104-36783delATATATATATATATATATATATATAT ATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93517117	AATAATTT others(23): Show AATAATTTTTTTTCTTTTCTTTCTAATTTGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0149 a0002c0010t0001g0149	1	193	0.0052	-30	c.899 others(47): Show c.899-6858_899-6829delAATTTTTTTTCTTTTCTTTCTAATTTGT AT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	7/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93615737	AAAAAAAA others(23): Show AAAAAAAAAGAAAAGAAGAAAAGAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG03139.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp2	a0001 a0011 a0001 a0011	a0001c0021 a0001c0041 a0011c0033 a0001c0021 a0001c0041 a0011c0033	a0001c0021t0001 a0001c0041t0001 a0011c0033t0001 a0001c0021t0001 a0001c0041t0001 a0011c0033t0001	a0001c0021t0001g0192 a0001c0041t0001g0014 a0011c0033t0001g0007 a0001c0021t0001g0192 a0001c0041t0001g0014 a0011c0033t0001g0007	3	193	0.0155	-30	c.410 others(49): Show c.4108-1377_4108-1348delAGAAAAGAAGAAAAGAAGAAAAGAAA AAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	28/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660541	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0011 a0011	a0011c0033 a0011c0033	a0011c0033t0001 a0011c0033t0001	a0011c0033t0001g0007 a0011c0033t0001g0007	1	193	0.0052	-30	c.685 others(49): Show c.6858+1282_6858+1311delATATATATATATATATATATATGTGT GTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209955692	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0050 a0004c0050	a0004c0050t0002 a0004c0050t0002	a0004c0050t0002g0127 a0004c0050t0002g0127	1	188	0.0053	-30	c.745 others(49): Show c.7457+1440_7457+1469delTATATATATATATATATATATATATA TATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955716	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0015 a0001c0021t0015	a0001c0021t0015g0094 a0001c0021t0015g0094	1	188	0.0053	-30	c.745 others(49): Show c.7457+1448_7457+1477delTATATATATATATATATATATACACA CACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955720	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19043.hp1 NA21309.hp1 HG02622.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0047 a0002c0055 a0016c0051 a0001c0047 a0002c0055 a0016c0051	a0001c0047t0002 a0002c0055t0001 a0016c0051t0001 a0001c0047t0002 a0002c0055t0001 a0016c0051t0001	a0001c0047t0002g0003 a0002c0055t0001g0009 a0016c0051t0001g0183 a0001c0047t0002g0003 a0002c0055t0001g0009 a0016c0051t0001g0183	3	188	0.0160	-30	c.745 others(49): Show c.7457+1452_7457+1481delTATATATATATATATATACACACACA CACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPF1_chr19_18826959_18873230	18829606	CATATATA others(23): Show CATATATATATATGTATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03704.hp1 HG02735.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	394	0.0051	-30	c.-26 others(41): Show c.-2603_-2574delATATATATATATGTATATATATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2352		chr19	TogoVar
UPK3BL2_chr7_102532919_102548696	102540856	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAGAAGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0105 a0001c0001t0019g0105	1	182	0.0055	-30	c.485 others(45): Show c.485+207_485+236delCCTTTTCTTCTTTTTTTTTTTTTTTTTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540876	AGAAGAAA others(23): Show AGAAGAAAAGGAAAAAAAAAAAAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp1 HG01928.hp1 HG02004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0010	2	182	0.0110	-30	c.485 others(45): Show c.485+187_485+216delCTTCTCTTTTTTTTTTTTTTCCTTTTCTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547740	GCCTGGGC others(23): Show GCCTGGGCAGCGAGAGTGAAACTCCATCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0005 a0002c0002t0012g0005	1	182	0.0055	-30	c.-41 others(41): Show c.-4134_-4105delTGAGATGGAGTTTCACTCTCGCTGCCCAGG	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4045		chr7	TogoVar
UPP2_chr2_158096876_158141154	158104979	AGAGAAGG others(23): Show AGAGAAGGGAAGGGAAGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0002g0202 a0001c0001t0001g0023 a0001c0001t0002g0202	3	342	0.0088	-30	c.63- others(45): Show c.63-1118_63-1089delAGAAGGGAAGGGAAGGGAGGGGAGGGGAGG	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01256.hp2 HG02055.hp1 others(24): Show HG01167.hp2 HG01256.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0144 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0144 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0002c0003t0001g0002 a0002c0003t0001g0038 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0146	27	362	0.0746	-30	c.333 others(45): Show c.333-820_333-791delATATATATATATATATATATATATATATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
URAD_chr13_27972717_27993693	27987286	GAGGCAGC others(23): Show GAGGCAGCCTGGTCTCTGTGAAGCTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	428	0.0023	-30	c.175 others(47): Show c.175+1147_175+1176delACACACAGCTTCACAGAGACCAGGCTGC CT	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding	1/1			chr13	TogoVar
URAD_chr13_27972717_27993693	27991262	TGTATAGG others(23): Show TGTATAGGTGTAGGTATATGTATATATATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp2 others(86): Show HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG04228.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18952.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19076.hp1 NA19077.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0008 a0002c0002 a0003c0003 a0005c0008	a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0005c0008t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0014 others(24): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0004g0124 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0021 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0119 a0003c0003t0001g0132 a0005c0008t0001g0129	89	428	0.2079	-30	c.-26 others(41): Show c.-2655_-2626delCTATATATATACATATACCTACACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2570		chr13	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 NA18963.hp1 others(5): Show HG03491.hp1 HG03492.hp1 NA18963.hp1 NA18987.hp1 NA18999.hp1 NA19067.hp2 NA19070.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 others(5): Show a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322	8	328	0.0244	-30	c.117 others(47): Show c.117+1500_117+1529delTATATATATATATATATATATATATATA TA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp2 HG01081.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0046 a0001c0001t0005g0047	2	328	0.0061	-30	c.153 others(43): Show c.153-75_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URM1_chr9_128366374_128397016	128384498	CCAGCTTC others(23): Show CCAGCTTCTGATGGGAAGATACGGGATGCCA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0095 a0001c0001t0022g0095	1	344	0.0029	-30	c.107 others(47): Show c.107-3314_107-3285delCTTCTGATGGGAAGATACGGGATGCCAC AG	URM1	ENSG00000167118.11	transcript	ENST00000372853.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
USHBP1_chr19_17244171_17269745	17256953	CTGAGGTG others(23): Show CTGAGGTGGGAGGATTGCTTGAAGCCAGAAG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0013 a0013	a0013c0035 a0013c0035	a0013c0035t0002 a0013c0035t0002	a0013c0035t0002g0114 a0013c0035t0002g0114	1	412	0.0024	-30	c.122 others(47): Show c.1221-263_1221-234delCTTCTGGCTTCAAGCAATCCTCCCACCT CA	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding	8/12			chr19	TogoVar
USO1_chr4_75719577_75819286	75750707	TCTCTTGA others(23): Show TCTCTTGACTTTGTGATCCACCCACCTCGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(79): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp1 NA18941.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19081.hp1 NA19084.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0011 a0001c0012 others(2): Show a0001c0001 a0001c0011 a0001c0012 a0001c0018 a0008c0019	a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 a0001c0018t0001 a0008c0019t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(79): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0217 a0001c0011t0001g0103 a0001c0012t0001g0054 a0001c0018t0001g0141 a0008c0019t0001g0059	82	288	0.2847	-30	c.67- others(45): Show c.67-1662_67-1633delTTGACTTTGTGATCCACCCACCTCGACCTC	USO1	ENSG00000138768.15	transcript	ENST00000514213.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP10_chr16_84695000_84784922	84697661	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0381 a0003c0003t0001g0381	1	430	0.0023	-30	c.-24 others(41): Show c.-2429_-2400delTATATATATATATATATATATATATATATA	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2338		chr16	TogoVar
USP13_chr3_179648040_179794401	179750302	GTGTATAT others(23): Show GTGTATATATATATATATATGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02280.hp1 others(11): Show HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0002t0004 a0001c0002t0005	a0001c0001t0005g0017 a0001c0001t0005g0202 a0001c0001t0005g0232 others(11): Show a0001c0001t0005g0017 a0001c0001t0005g0202 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0263 a0001c0001t0005g0298 a0001c0001t0006g0241 a0001c0001t0006g0288 a0001c0001t0018g0191 a0001c0002t0004g0172 a0001c0002t0004g0270 a0001c0002t0005g0136 a0001c0002t0005g0170	14	300	0.0467	-30	c.171 others(49): Show c.1710-1981_1710-1952delGTATATATATATATATATGTGTGTAT ATAT	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP15_chr12_62255404_62421389	62332813	GAATTCCA others(23): Show GAATTCCAAATTGATGACTGAAACACTATAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01106.hp2 others(15): Show HG00558.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG02683.hp1 HG03017.hp2 HG03225.hp2 HG03669.hp1 HG04184.hp2 NA18948.hp1 NA18952.hp1 NA18981.hp1 NA19002.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0023 a0001c0002t0028 a0001c0002t0005 a0001c0002t0023 a0001c0002t0028	a0001c0002t0005g0019 a0001c0002t0005g0021 a0001c0002t0005g0303 others(12): Show a0001c0002t0005g0019 a0001c0002t0005g0021 a0001c0002t0005g0303 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0005g0311 a0001c0002t0005g0312 a0001c0002t0005g0313 a0001c0002t0023g0020 a0001c0002t0028g0091	18	348	0.0517	-30	c.683 others(47): Show c.683+6882_683+6911delATTCCAAATTGATGACTGAAACACTATA AA	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP32_chr17_60172327_60397133	60264500	GCAAGATC others(23): Show GCAAGATCCTGTCTCCAAAAAAACAAACAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	152	0.0066	-30	c.990 others(45): Show c.990+882_990+911delTCTGTTTGTTTTTTTGGAGACAGGATCTTG	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	9/33			chr17	TogoVar
USP34_chr2_61182463_61476087	61387665	GCACACAT others(23): Show GCACACATGTAAAAATATATTTTTACATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	312	0.0032	-30	c.754 others(47): Show c.754-4359_754-4330delTATATGTAAAAATATATTTTTACATGTG TG	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	5/79			chr2	TogoVar
USP40_chr2_233470526_233571782	233494926	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	324	0.0031	-30	c.279 others(49): Show c.2791-1405_2791-1376delAATATATATATATATATATATATATA TATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP42_chr7_6099949_6166564	6135650	TCAAAAAA others(23): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20129.hp2 HG00639.hp2 NA20129.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0161 a0003c0002t0001g0166 a0003c0002t0001g0161 a0003c0002t0001g0166	2	394	0.0051	-30	c.443 others(45): Show c.443-181_443-152delAAAAAAAAAAAAAAAAAAGAACAAAAAAAA	USP42	ENSG00000106346.12	transcript	ENST00000306177.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar

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